hu1EF4CF - GET-Evidence variant report

Variant report for hu1EF4CF

Log file: 




VariantClinical
Importance
ImpactAllele
freq
Summary
1HABP2-G534EModerateLikelyLikely pathogenic

Unknown, Heterozygous
0.0280721Known as the "Marburg I" polymorphism, this variant is associated with increased risk of coronary heart disease (CHD) in individuals with elevated cholesterol, triglyceride, and fibrinogen levels (5-fold risk of a CHD event, compared to 2-fold risk increase in people with the same risk factors but do not have this variant). In individuals without these elevated levels, however, carriers of the variant do not appear to have any increased risk of CHD.1
2OPTN-M98KModerateUncertainUncertain pathogenic

Unknown, Heterozygous
0.0613497This variant was initially reported to be a risk factor for glaucoma, but subsequent reports have failed to find a statistically significant association. It may have a modifier effect, with carriers of the variant having lower intraocular pressure on average -- pressures that might be considered normal in other individuals would be abnormally high for carriers of this variant.1
3HFE-C282YLowWell-establishedWell-established pathogenic

Recessive, Carrier (Heterozygous)
0.0494516This variant is associated with hereditary haemochromatosis, 80% of patients with that disease are homozygous for this variant. However, the penetrance is low, in Beutler et al. they note that only 1 of their 158 homozygotes met criteria for diagnosis with the condition.1
4COL4A1-Q1334HLowLikelyLikely pathogenic

Dominant, Homozygous
0.324689This common variant has been associated with arterial stiffness and, in Japanese, a small increased risk of myocardial infarction (MI, a.k.a. heart attack). This last observation supported a dominant effect for this variant and, assuming a lifetime risk of 15% for MI, we estimate carriers have an additional risk of 0.5-3%.1
5MTRR-I49MLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.451199This common variant (HapMap allele frequency of 31.3%) in a protein involved in folate (B9) and cobalamin (B12) metabolism and is often reported as "MTRR I22M" (an alternative transcript position). Mothers homozygous for this variant are associated with having around a increased chance of a child with Down syndrome (risk of 0.4%, average risk in population is 0.25%). Notably, age plays a far larger role in the rate of Down syndrome (risk is 4.5% for a mother 45-years-of-age), and it is unknown how this variant may combine with the effect of age. There are conflicting reports associating this variant with incidence of neural tube defects, possibly when combined with MTHFR A222V.1
6AMPD1-Q12XLowLikelyLikely pathogenic

Recessive, Carrier (Heterozygous)
0.0930643Causes Adenosine Deaminase Deficiency in a recessive manner. Most of the time individuals do not report symptoms, but when symptoms do exist they to be post-exercise symptoms of muscle weakness, muscle pain, and getting tired more quickly.1
7rs5186LowLikelyLikely pathogenic

Unknown, Heterozygous
0.214878This common noncoding genetic variant has an allele frequency of ~30% and is associated with an increased risk of hypertension. If ~25% of non-carriers have hypertension, Bonnardeaux et al's data predict ~4% increased risk of hypertension per copy of this variant. This SNP is in the 3' noncoding region of the AGTR1 transcript (angiotensin II type 1 receptor), also known as AT2R1 or AT1R, which is a target of hypertension drugs.1
8APOA5-S19WLowLikelyLikely pathogenic

Unknown, Heterozygous
0.0646151This variant, also known as APOA5*3, is associated with higher plasma triglyceride concentrations but no significant correlation with coronary artery disease itself has been found.1
9RNASEL-R462QLowUncertainUncertain pathogenic

Complex/Other, Heterozygous
0.278026Associated with increased risk of prostate cancer in individuals who already have a family history of prostate cancer, but studies have been unable to replicate this finding in sporadic (non-familial) prostate cancer cases.1
10TP53-P72RLowUncertainUncertain pathogenic

Unknown, Homozygous
0.627743This is a common variant was first reported as a polymorphism. It has since had mixed associations with cancer: Storey et al. conclude a 7x *increased* risk of HPV cancer for homozygotes vs hets, but Jones et al. find a 1.98x *decreased* risk for colorectal cancer. This variant may have significant impact on particular cancers, but it is unclear what effect it has on the overall burden of cancer.1
11SP110-L425SLowUncertainUncertain pathogenic

Unknown, Heterozygous
0.863357This variant is associated with a slightly increased risk of tuberculosis. It is unclear whether it is itself causal, or in linkage disequilibrium with some other causal variant that has a stronger effect.1
12H6PD-R453QLowUncertainUncertain pathogenic

Recessive, Carrier (Heterozygous)
0.308886This common variant may have a small pathogenic effect by contributing to cortisone reductase deficiency (a rare abnormality) when homozygous and combined with a serious pathogenic variant. The same authors have tested and ruled out a contribution to polycystic ovary syndrome (similar phenotype, more common disease).1
13rs1544410LowUncertainUncertain pharmacogenetic

Unknown, Heterozygous
0.351562rs1544410 is a Vitamin D Receptor (VDR) single nucleotide polymorphism. It is unlikely that it has functional significance because it is located in an intron (Liu et. al.), but it is in strong linkage disequilibrium with rs731236 (Dvornyk et al), which is located in an exon. 1
14FUT2-W154XModerateWell-establishedWell-established protective

Recessive, Homozygous
0.490519This recessive protective variant confers resistance to norovirus (which causes stomach flu). 20% of Caucasians and Africans are homozygous for this variant and are "non-secretors": they do not express ABO blood type antigens in their saliva or mucosal surfaces. Most strains of norovirus bind to these antigens in the gut, and so this non-secretor status confers almost total resistantance to most types of norovirus. There are notable exceptions, some strains of norovirus bind a different target and are equally infectious for secretors and non-secretors.1
15CFB-R32QModerateLikelyLikely protective

Dominant, Heterozygous
0.117188This variant is associated with a significant protective effect -- individuals with this variant are about half as likely to have age-related macular degeneration. Appears to be an additive effect, with homozygotes having a stronger protective effect.1
16PRNP-M129VLowWell-establishedWell-established protective

Complex/Other, Heterozygous
0.339561This variant is associated with some protective effects for prion disease -- individuals homozygous for this variant are less susceptible to Creutzfeldt-Jakob, and Papua New Guinea individuals heterozygotes at this site are less susceptible to kuru. 1
17KCNJ11-K23ELowLikelyLikely protective

Unknown, Homozygous
0.738148This variant is associated with decreased risk of type 2 diabetes. It is unclear whether this variant has additive effects, or acts in a dominant or recessive manner. Assuming diabetes has a lifetime risk of 36%, we estimate a decreased risk of around 1-2% per copy of this variant.1
18TYR-R402QLowWell-establishedWell-established benign

Complex/Other, Heterozygous
0.204964This is a frequent pigmentation polymorphism in Europeans that affects function of the Tyrosinase gene. It is associated with blue instead of green eyes and sun sensitivity. For the most part this variant is benign, but many individuals with ocular albinism (which affects only the eyes) carry this variant along with another more severe variant in the same gene.1
19CACNA1S-L458HLowLikelyLikely benign

Unknown, Heterozygous
0.27282Common polymorphism1
20NEFL-S472ShiftLowLikelyLikely benign

Unknown, Homozygous
Although a frameshift in this gene would be predicted to cause Charcot-Marie Neuropathy, this particular position appears to reflect a single base insertion error/mutation in the reference genome (in other words, normal individuals are always homozygous for a deletion at this position relative to reference). See chr8:24,811,060-24,811,080 annotations on UCSC.1
21FBN2-S2580LLowUncertainUncertain benign

Dominant, Homozygous
0.0779885Probably benign -- initially associated with congenital contractual arachnodactyly, but later reports classify it as a nonpathogenic polymorphism.1
22KEL-T193MLowUncertainUncertain benign

Dominant, Heterozygous
0.0320692This variant is also known as Kell or K1 or K (capitalized) in the Kell antigen system. K1-negative mothers (carrying no copies of this variant) carrying K1-positive fetuses (heterozygous or homozygous) are at risk for hemolytic disease of the newborn. About 9% of caucasians carry one or two copies of K1.1
23NOTCH3-H1133QLowUncertainUncertain benign

Unknown, Heterozygous
0.0131995Probably benign.1
24DYNC2H1-Q304LLowUncertainUncertain benign

Unknown, Heterozygous
0.0484135Presumed benign.1
25APOB-Y1422CLowUncertainUncertain benign

Unknown, Homozygous
0.999628This position is almost certainly an error in the HG18 reference sequence. 1
26AMPD1-P48LLowUncertainUncertain benign

Unknown, Heterozygous
0.0940695Probably benign, ancestral to15173240 pathogenic Q12X mutation.1
27MED25-A335VLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
Proposed by Leal et al 2009 to cause recessive Charcot-Marie-Tooth disorder in an extended Costa Rican family. (Reported via OMIM to ClinVar, see: http://www.ncbi.nlm.nih.gov/clinvar/RCV000001387/) According to ExAC allele frequency data, we would expect 1 in 25,000 to 30,000 people to be homozygous for this variant. Charcot-Marie-Tooth type 2 has a prevalence of 1 in 10,000. If this hypothesis were true, homozygosity this variant alone would theoretically account for more than a third of cases. As such we would expect strong evidence in literature for an effect, but we have only a single report of a family (where linkage can confound analysis) and no other reports.1
28RP1-N985YLowUncertainUncertain benign

Unknown, Heterozygous
0.348671Probably benign. One report linked this variant to high triglycerides, but a later paper found a nearby SNP with similar association and suggests that both findings are caused by linkage to an undiscovered causal variant.1
29SLC45A2-L374FLowUncertainUncertain benign

Unknown, Homozygous
0.691764Pigmentation allele for non-black hair, and consequently, possible increased susceptibility to malignant melanoma.1
30TAS2R38-A49PLowUncertainUncertain benign

Unknown, Homozygous
0.431121This variant is strongly associated with causing the "taster" phenotype of phenylthiocarbamine (PTC) in a dominant manner.1
31TAS2R38-I296VLowUncertainUncertain benign

Unknown, Homozygous
0.463376This variant is associated with "taster" status of PTC, along with 49P and 262A. Due to linkage disequilibrium, the independent effects of positions 296 and 262 is unclear. The presence of 49P confers taster status in a dominant fashion, but in the absence of 49P, the presence of 262A/296V is still positively associated with tasting PTC.1
32PCSK9-G670ELowUncertainUncertain benign

Unknown, Homozygous
0.888269This variant is likely benign. 1
33TYR-S192YLowUncertainUncertain benign

Unknown, Heterozygous
0.270682This variant is reported to affect skin pigmentation. It is associated with lighter skin in South Asians (OR 4-5) and with a lack of freckles in Europeans (OR 1.3).1
34KRT85-R78HLowUncertainUncertain benign

Recessive, Carrier (Heterozygous)
0.042466Presumed benign. Although this variant was implicated in causing ectodermal dysplasia in a recessive manner in two Pakistani families (one of which was large and consanguineous), GET-Evidence reports that the variant has been seen in 5 out of 114 random control chromosomes. This strongly contradicts a severe pathogenic effect.1
35SPTA1-A970DLowUncertainUncertain benign

Unknown, Heterozygous
0.0373134This variant, also called alpha-IIa, has been seen frequently in individuals with recessive Hereditary spherocytosis. This appears to be the result of linkage to alpha-LEPRA (a C>T substitution at position -99 of intron 30); A970D is later reported as functionally neutral.1
VariantPrioritization scoreAllele
freq
Num of
articles
Zygosity and Prioritization Score Reasons

Exome coverage: 30897625 / 33282720 = 92.83%

GeneChromosomeCoverageMissingLengthMissing regions
1AGRN10.101010101010155186138955553-955753, 957581-957651, 957657-957842, 970657-970704, 976045-976260, 976553-976777, 976858-976997, 977009, 977025-977082, 977336-977437, 977457-977469, 977476, 977479-977489, 977496-977500, 977515-977542, 978619-978722, 978740-978781, 978795-978796, 978804-978821, 978918-979112, 979203-979268, 979275-979307, 979313-979325, 979345-979403, 979489-979637, 979714-979819, 980541-980631, 980638-980657, 980739-980753, 980777-980835, 980868-980892, 981125, 981129-981133, 981158-981170, 981180-981182, 981193-981256, 981348-981424, 981442-981468, 981540-981567, 981581-981620, 981633-981645, 981777-981793, 981800-982047, 982079, 982082-982097, 982106-982115, 982200-982201, 982203-982223, 982228, 982245-982337, 982726-982834, 982953-983062, 983156-983275, 983392-983745, 984247-984439, 984616-984831, 984946-985023, 985038-985123, 985131-985175, 985283-985417, 985613-985667, 985679-985709, 985807-985904, 985913-985952, 985959-985971, 986106-986170, 986198-986217, 986633-986743, 986833-987025, 987108-987195, 989133-989162, 989182-989282, 989286, 989297, 989307-989328, 989338-989339, 989351-989357, 989828-989845, 989852-989908, 989915-989931, 990204-990224, 990229-990268, 990291-990313, 990326-990360
2GABRD10.23399558498896104113591950863-1950930, 1956381-1956382, 1956416-1956493, 1956774, 1956793-1956832, 1956960-1956975, 1956987-1957090, 1957101-1957154, 1957165-1957170, 1959016-1959037, 1959068-1959098, 1959594-1959635, 1959677, 1959703-1959731, 1960550-1960705, 1960990-1961098, 1961123-1961163, 1961173-1961189, 1961422-1961498, 1961520-1961595, 1961604-1961612, 1961635-1961665, 1961685-1961715
3PEX1010.619775739041793739812337205-2337212, 2337237-2337245, 2337272-2337273, 2337923-2337996, 2338243-2338244, 2338248-2338254, 2338293, 2338304-2338309, 2339891-2339900, 2339931, 2339976-2339991, 2340003-2340060, 2340103, 2340110-2340111, 2340143-2340189, 2340200, 2340212-2340213, 2340267-2340270, 2340272, 2340275-2340282, 2341863, 2343830-2343941
4NPHP410.8070544265358682642815923950-5923957, 5923960, 5923991, 5924451-5924455, 5924505-5924507, 5924553-5924559, 5924563, 5925182-5925197, 5925258-5925273, 5925315, 5926504, 5926507-5926508, 5927132, 5934549-5934552, 5934574, 5934642-5934660, 5934685-5934717, 5934946-5934991, 5935033-5935081, 5935112, 5935132-5935141, 5935147-5935160, 5947357-5947371, 5947417-5947429, 5947458-5947472, 5947483-5947521, 5950930-5950971, 5950980-5950991, 5950994-5951006, 6021854-6021870, 6021877-6021894, 6021974-6021978, 6027359-6027383, 6027391-6027423, 6029147-6029155, 6029194-6029201, 6029206, 6029209, 6029216-6029287, 6029302-6029319, 6038330-6038473, 6046215-6046233, 6046236-6046246, 6046255-6046266, 6046292, 6046307-6046349
5ESPN10.50721247563353126425656485016-6485309, 6488286-6488337, 6488372-6488401, 6488426-6488446, 6488453-6488479, 6500352-6500404, 6500412-6500489, 6500500, 6500697-6500868, 6500994-6500997, 6501012-6501022, 6501031-6501032, 6501035, 6501059-6501065, 6501097-6501103, 6504732-6504738, 6505726-6505757, 6505776-6505798, 6505813-6505861, 6505872-6505903, 6505913-6505937, 6505977, 6508709-6508733, 6508760-6508766, 6508828-6508858, 6508882-6508888, 6508922-6508928, 6508975-6508992, 6509021-6509036, 6509052-6509106, 6509139, 6509142, 6511703-6511709, 6511754, 6511910, 6511936-6511959, 6511972, 6511975, 6511982, 6511996-6511999, 6512042-6512097, 6512103-6512133, 6520062-6520063, 6520077-6520093, 6520096, 6520125-6520144
6PLEKHG510.7563499529633177731896527627, 6527630, 6527906-6527912, 6527919, 6527960-6527984, 6528060, 6528107, 6528157, 6528187-6528198, 6528240-6528263, 6528266-6528267, 6528299-6528301, 6528315-6528317, 6528324-6528325, 6528525, 6528532, 6528589, 6529102, 6529116-6529158, 6529183-6529188, 6529206, 6529209, 6529247-6529261, 6529409-6529423, 6529688-6529717, 6530334-6530342, 6530566-6530593, 6530801-6530810, 6530819-6530850, 6530862-6530864, 6530899, 6530934-6530944, 6531066, 6531069, 6531073-6531106, 6531114, 6531129, 6531133-6531141, 6531582-6531618, 6531646-6531662, 6531832, 6532613-6532658, 6533407-6533415, 6534094-6534142, 6534156-6534214, 6534511-6534542, 6534553-6534587, 6534600-6534606, 6534631-6534646, 6535107-6535114, 6535127, 6535136-6535179, 6535534, 6535543-6535582, 6536056, 6537634, 6537686-6537697, 6556555, 6556565-6556574, 6556624-6556629, 6557380-6557383
7PEX1410.85361552028219166113410535043-10535052, 10683107-10683113, 10683120, 10684426-10684461, 10684486-10684494, 10689589, 10689684-10689700, 10689789-10689790, 10689804-10689805, 10689809, 10689813-10689818, 10689850-10689871, 10689966-10689988, 10690016-10690044
8TARDBP10.9887550200803214124511080533-11080539, 11082356-11082362
9MASP210.70208636584182614206111094885-11094899, 11097750-11097786, 11097824-11097849, 11097865, 11097868, 11102932-11102986, 11103024-11103079, 11103396-11103420, 11103433-11103465, 11103472-11103476, 11103509-11103516, 11103536-11103573, 11105465-11105538, 11105557, 11105575, 11105581-11105596, 11106631-11106633, 11106636-11106647, 11106667, 11106696-11106697, 11106701-11106702, 11106748, 11106777-11106790, 11106954-11106997, 11107003-11107068, 11107075-11107094, 11107109-11107121, 11107138-11107176, 11107260-11107264
10MTHFR10.92947742262811139197111853984-11853993, 11854050-11854056, 11854104-11854111, 11854415, 11854491-11854504, 11854550-11854552, 11854810-11854828, 11854887-11854903, 11855224-11855231, 11861324-11861341, 11861381-11861383, 11862959-11862988, 11863095
11PLOD110.92078754578755173218411994872-11994874, 11994877, 12010491-12010499, 12012769-12012792, 12023662, 12023674-12023683, 12024232-12024234, 12024701-12024702, 12024720-12024735, 12024767-12024778, 12024825-12024842, 12026318-12026335, 12026366, 12027073-12027075, 12027135, 12030804-12030852, 12034784-12034785
12MFN210.996481970096758227412066623-12066630
13CLCNKA10.76647286821705482206416349189, 16351272-16351282, 16353232-16353245, 16353806, 16353893-16353915, 16354333, 16354391-16354397, 16354545-16354548, 16355302, 16355668-16355672, 16355735-16355749, 16355787-16355794, 16356276, 16356468-16356470, 16356475-16356481, 16356501, 16356518-16356566, 16356977-16356995, 16357000, 16357030-16357120, 16357133, 16357146-16357156, 16358205-16358236, 16358279-16358302, 16358315, 16358327-16358338, 16358698-16358761, 16358782-16358786, 16358938-16358966, 16358992, 16358998-16359021, 16359674, 16359677-16359682, 16359730-16359733, 16360106-16360108, 16360147
14CLCNKB10.65649224806202709206416371033-16371052, 16372078-16372097, 16372138-16372149, 16373044-16373054, 16374482, 16374838-16374859, 16374889-16374905, 16375063-16375064, 16375068-16375071, 16375615-16375634, 16376310-16376319, 16376362, 16376368, 16376384, 16376395, 16377024-16377050, 16377370-16377374, 16377431-16377439, 16377468-16377508, 16377973-16378000, 16378008, 16378032-16378040, 16378231-16378293, 16378311-16378315, 16378693-16378713, 16378725, 16378733-16378809, 16378828-16378866, 16378881-16378906, 16380145-16380197, 16380203-16380205, 16380213-16380260, 16381990-16382011, 16382170-16382205, 16382231-16382253, 16382933-16382952, 16383002-16383003, 16383364-16383370
15ATP13A210.87552921253175441354317312716, 17312762-17312766, 17312992-17313016, 17313050, 17313313-17313320, 17313598-17313624, 17313654, 17313673-17313713, 17314830-17314866, 17314881-17314891, 17314910, 17314942-17314967, 17316418-17316430, 17318286, 17319008-17319014, 17320273-17320289, 17322471-17322489, 17322519-17322526, 17322566-17322568, 17322572-17322589, 17322607, 17322629, 17322888-17322895, 17322912-17322947, 17322964, 17322975-17322978, 17323515-17323534, 17323538-17323555, 17323563, 17323579-17323585, 17323604-17323627, 17323640-17323656, 17326519, 17326776-17326796, 17327016-17327021, 17338229-17338233
16SDHB10.977461447212341984317371266-17371284
17ALDH4A110.9804964539007133169219208248, 19209774-19209778, 19209829, 19215925-19215948, 19216520, 19216523
18ALPL10.9885714285714318157521889743-21889749, 21890679-21890689
19HSPG210.9004250151791113121317622149828-22149835, 22149844, 22149847-22149849, 22149859-22149861, 22149887-22149893, 22149898, 22149908-22149930, 22149935, 22149940-22149945, 22149971-22149981, 22150114-22150163, 22150173-22150174, 22150178, 22150636-22150641, 22150823-22150862, 22151063-22151104, 22151250-22151259, 22154396-22154406, 22154601-22154644, 22154910-22154919, 22155343-22155382, 22155397-22155414, 22155461, 22155474, 22155501, 22155876-22155887, 22155927-22155930, 22155962-22155963, 22155974-22155975, 22155983-22155991, 22156080-22156097, 22156491-22156500, 22156561-22156584, 22157548-22157551, 22165326-22165328, 22165419-22165422, 22167616-22167621, 22167653-22167659, 22167662-22167663, 22168056-22168060, 22168066, 22168075-22168080, 22168101, 22168513-22168517, 22168552-22168584, 22168774, 22169361, 22169869, 22169886, 22169911-22169923, 22170745-22170788, 22172630-22172664, 22172726, 22172941-22172964, 22173882-22173890, 22173922-22173923, 22174182-22174205, 22174496, 22175142, 22175192, 22175233, 22175241, 22175386-22175403, 22175441-22175465, 22175477-22175506, 22175509, 22175515, 22176857-22176870, 22176905, 22176950-22176991, 22178106, 22178144-22178147, 22178338-22178354, 22178360, 22179309-22179311, 22179500-22179532, 22180690-22180692, 22180745-22180768, 22181125, 22181134-22181141, 22181199-22181236, 22181253-22181255, 22181417-22181452, 22181839-22181847, 22182030-22182033, 22182037-22182038, 22182040-22182062, 22183831, 22183839, 22186059-22186070, 22186134-22186168, 22186328-22186332, 22186340-22186341, 22186348-22186358, 22186437, 22186670-22186709, 22186727-22186728, 22188255, 22188541-22188548, 22190605-22190615, 22190628, 22190660, 22191336, 22191406-22191407, 22191445, 22191454, 22191457, 22192221-22192222, 22192252, 22198685, 22198693, 22198786, 22199134-22199158, 22199500-22199531, 22206881-22206889, 22206892-22206893, 22206942, 22207940, 22211096-22211099, 22211167, 22211558, 22211831-22211839, 22211883, 22211900-22211902, 22213732-22213736, 22216563, 22216920-22216925, 22217108, 22217127, 22263648-22263710
20WNT410.9214015151515283105622456181-22456186, 22469339-22469415
21GALE10.9894937917860611104724122652, 24122657-24122666
22HMGCL10.946830265848675297824134625, 24134628, 24134716-24134717, 24134721-24134722, 24134747-24134782, 24134806-24134813, 24151873, 24151893
23FUCA110.89364739471806149140124180869, 24180874-24180876, 24180880, 24180935-24180936, 24180992, 24181023, 24194388, 24194436, 24194468-24194510, 24194606-24194612, 24194623-24194650, 24194684-24194734, 24194768-24194776
24SEPN110.8705035971223216166826126722-26126904, 26135603-26135613, 26137971-26137973, 26138290-26138307, 26138368
25ZMPSTE2410.9929971988795510142840756550, 40756554, 40756558-40756565
26KCNQ410.8860153256705238208841249766-41249786, 41249795-41249801, 41249826-41249910, 41249912-41249914, 41249928-41249929, 41249937-41249953, 41249958, 41249979-41249994, 41250017-41250079, 41284241-41284246, 41284341-41284345, 41285065-41285068, 41285087, 41285090-41285096
27CLDN1910.99851851851852167543203982
28LEPRE110.9873360470375428221143212431, 43213942-43213960, 43232598-43232604, 43232620
29SLC2A110.994590939824218147943408987-43408991, 43424305-43424307
30EIF2B310.9852832965415720135945345597, 45345604, 45345661-45345678
31POMGNT110.9863842662632427198346661530, 46661536-46661547, 46661551, 46662403-46662406, 46662513-46662521
32STIL10.998448409619866386747748107, 47753223-47753227
33ORC110.9934261407579317258652840554-52840556, 52841188-52841200, 52841249
34DHCR2410.996131528046426155155340811, 55340884, 55352581, 55352599-55352601
35BSND10.99273104880582796355464943-55464949
36PCSK910.93746993746994130207955505553-55505555, 55517990-55517993, 55518342-55518344, 55521666-55521695, 55521732-55521754, 55521763-55521777, 55521829-55521846, 55523778-55523785, 55523876-55523880, 55524261-55524281
37ALG610.999346405228761153063876913
38ACADM10.996087636932715127876228441, 76228445-76228448
39ABCA410.998973907944887682294476443-94476449
40DPYD10.9961013645224212307897847998-97848007, 98144704, 98205978
41COL11A110.9987172439069175457103364305-103364311
42GSTM110.9726027397260318657110230517-110230531, 110230839, 110231901, 110233147
43VANGL110.9942857142857191575116228074-116228076, 116228103-116228108
44HSD3B210.9937444146559471119119965218-119965224
45NOTCH210.984627831715211147416120539665-120539723, 120539778-120539784, 120539913-120539939, 120548025, 120548055, 120572544-120572550, 120611960, 120611964, 120612000-120612009
46HFE210.99141295862607111281145414844-145414853, 145414856
47PRPF310.98538011695906302052150298218, 150315878-150315896, 150325383, 150325447-150325455
48FLG10.9192516001969598412186152276941, 152277312-152277318, 152277822-152277862, 152278146, 152278406-152278437, 152279369, 152279375-152279384, 152279406, 152279469, 152279565-152279567, 152279612, 152279991-152280010, 152280149-152280195, 152280407, 152280821-152280822, 152280943-152280968, 152281152, 152281330, 152281428-152281455, 152281461, 152281490-152281492, 152281544-152281562, 152281572-152281613, 152281684-152281698, 152281709, 152281763-152281769, 152281917-152281927, 152281964-152282033, 152282097-152282098, 152282101, 152282108, 152282111, 152282132-152282133, 152282242-152282252, 152282293-152282306, 152282357-152282395, 152282576-152282588, 152282767, 152282771-152282774, 152282846-152282847, 152282855-152282856, 152282891, 152283006-152283007, 152283254-152283282, 152283391, 152283500, 152283503-152283506, 152283528-152283552, 152283716-152283722, 152283730-152283778, 152283836, 152283927, 152284010, 152284021-152284022, 152284061-152284073, 152284208-152284209, 152284260-152284287, 152284333, 152284566-152284614, 152284846-152284848, 152285001, 152285033-152285072, 152285102-152285103, 152285147-152285179, 152285196-152285212, 152285278, 152285352-152285361, 152285618-152285624, 152285656-152285673, 152285733, 152285737-152285741, 152285857-152285875, 152285986, 152286006-152286040, 152286136, 152286182-152286191, 152286224, 152286244-152286249, 152286252, 152286302, 152286370-152286376, 152286432-152286435, 152286778-152286779, 152286876-152286896, 152286899, 152286962-152286967, 152287091-152287094, 152287205-152287208, 152287836-152287849, 152287906-152287909
49GBA10.97911445279866251197155184202-155184205, 155184364-155184384
50PKLR10.98550724637681251725155269917-155269928, 155269958-155269960, 155269989-155269992, 155271166-155271171
51LMNA10.98245614035088351995156108291-156108325
52SEMA4A10.98031496062992452286156131170-156131173, 156131243, 156131270-156131309
53NTRK110.98076118778754462391156830727-156830729, 156830794-156830798, 156830809-156830818, 156830850-156830877
54MPZ10.989703989703998777161279640-161279642, 161279672-161279676
55F510.98561797752809966675169510233, 169510325-169510383, 169510499-169510527, 169510647-169510653
56DARS210.99484004127967101938173802557-173802566
57SERPINC110.9985663082437321395173878919, 173879908
58LAMC210.9997208263539913582183205672
59HMCN110.99994085639934116908185984502
60CFH10.9997294372294413696196648823
61CFHR110.993957703927496993196797204, 196797238, 196797244, 196797292, 196797357, 196801005
62CACNA1S10.99786552828175125622201081316-201081323, 201081464-201081467
63PKP110.9972489683631462181201282647, 201282655-201282656, 201282660, 201282672, 201292210
64LAMB310.9980107985223173519209795917-209795923
65USH2A10.99987186879364215609216496847-216496848
66PSEN210.98515219005197201347227071588-227071607
67ADCK310.848765432098772941944227152778-227152781, 227152806-227152808, 227152818-227152827, 227152830-227152832, 227152856-227152886, 227153021-227153054, 227153077-227153083, 227153419-227153430, 227169760-227169789, 227169817-227169836, 227170402, 227170608, 227170675-227170722, 227171253-227171281, 227171299, 227171305-227171315, 227171810-227171816, 227171925, 227171934-227171936, 227172249, 227172253-227172259, 227172262, 227172337-227172356, 227172639, 227174431-227174438
68GJC210.09166666666666711991320228345460-228345471, 228345487-228345540, 228345557-228345566, 228345574, 228345590-228345624, 228345637-228345663, 228345670-228345677, 228345680-228345683, 228345700-228346161, 228346168-228346216, 228346225-228346576, 228346587-228346693, 228346702-228346779
69ACTA110.95943562610229461134229567468, 229567800-229567819, 229567849, 229567913, 229567917, 229567927-229567930, 229568043-229568049, 229568085-229568086, 229568131, 229568172, 229568323-229568329
70LYST10.99938628791864711406235933518-235933524
71NET1100.99832495812395317915454749, 5454753-5454754
72GATA3100.99850187265918213358100740-8100741
73OPTN100.994809688581319173413151247-13151251, 13151272-13151275
74PHYH100.99606686332354101713330455, 13342024-13342026
75CUBN100.99724061810155301087216979680, 16979683-16979690, 16979780-16979783, 17032445-17032448, 17146570-17146582
76PTF1A100.914893617021288498723481652-23481667, 23481741-23481743, 23481753-23481774, 23481819-23481827, 23481878-23481910, 23482148
77PDSS1100.998397435897442124826986713-26986714
78MASTL100.998103905953745263727450081, 27450084-27450086, 27470432
79RET100.9034379671151323334543572707-43572779, 43595922, 43595968, 43596000, 43596048-43596053, 43596112-43596136, 43598044, 43598050-43598052, 43600414-43600421, 43600448-43600459, 43600503-43600518, 43600581-43600583, 43600597-43600606, 43600610-43600619, 43601932-43601944, 43606773, 43606789, 43606842-43606845, 43606853-43606858, 43606905-43606913, 43607547-43607549, 43607596, 43609932-43609935, 43609942, 43609946, 43609957-43609958, 43609998-43610006, 43610061-43610062, 43610119, 43610142-43610165, 43613860-43613883, 43615000-43615007, 43615037-43615070, 43619242-43619245, 43619256
80ERCC6100.9959839357429718448250669480-50669486, 50740668, 50740787, 50740822-50740830
81CHAT100.996884735202497224750822455-50822460, 50822481
82EGR2100.996505939902175143164573312, 64573363, 64573471-64573473
83KIAA1279100.99892818863882186670760207, 70760264
84NODAL100.990421455938710104472201388-72201397
85PRF1100.999400479616311166872358283
86SLC29A3100.999299719887961142873122243
87CDH23100.96648766905333371005673437269, 73437430, 73437434-73437435, 73439160-73439168, 73439196-73439240, 73442268-73442270, 73442304-73442329, 73447412-73447421, 73447434-73447476, 73455234, 73455262-73455270, 73455273, 73455281-73455282, 73461788-73461796, 73461861, 73461877, 73461944-73461964, 73462329-73462345, 73462405-73462408, 73464728-73464735, 73464766-73464775, 73464854-73464857, 73464883-73464887, 73466778-73466781, 73468858-73468882, 73468888, 73468965-73468968, 73472476, 73472509, 73490274-73490276, 73490307, 73490310, 73499445-73499446, 73501628, 73537471-73537473, 73550152-73550163, 73550168-73550170, 73571152-73571158, 73571712-73571731, 73574839-73574851, 73574914, 73574917
88MAT1A100.9553872053872153118882034363-82034365, 82034926-82034931, 82036150, 82036155, 82036159-82036181, 82036242-82036260
89LDB3100.92261904761905169218488428449-88428501, 88428536-88428541, 88441410, 88441420-88441422, 88441434, 88441438-88441439, 88441445, 88441474-88441479, 88466288-88466292, 88466302-88466328, 88476194-88476196, 88476261, 88476265-88476268, 88476289, 88476292-88476295, 88476395-88476398, 88476404-88476405, 88476463-88476474, 88476483-88476515
90GLUD1100.92844364937388120167788827889, 88854082-88854092, 88854142-88854149, 88854366-88854368, 88854383-88854392, 88854401-88854431, 88854452-88854453, 88854458-88854483, 88854495, 88854500-88854526
91HPS1100.98243114909782372106100177343-100177349, 100177367, 100177372-100177394, 100177947-100177952
92HPS6100.908075601374572142328103825257-103825299, 103825347, 103825360, 103825376-103825385, 103825439-103825462, 103825482-103825506, 103825575-103825576, 103825598, 103825617, 103825658-103825659, 103825684-103825694, 103825726-103825759, 103825775-103825820, 103825843, 103826064, 103826460, 103826586-103826591, 103826728, 103827439-103827440, 103827451
93SUFU100.9938144329896991455104352406-104352414
94CYP17A1100.9967256057629351527104590641, 104592304-104592306, 104592358
95COL17A1100.99554962171785204494105816794-105816805, 105816811, 105816884, 105816887-105816890, 105816899, 105816916
96HABP2100.9946524064171191683115341863-115341871
97BAG3100.9982638888888931728121411365-121411367
98HTRA1100.880803880803881721443124221184-124221195, 124221198-124221233, 124221245, 124221248, 124221293-124221317, 124221329-124221387, 124221404, 124221438-124221441, 124221478, 124221485-124221486, 124221499-124221501, 124221506-124221510, 124221570-124221576, 124221631, 124266231-124266244
99HRAS110.35263157894737369570532658-532666, 532700-532751, 533453-533484, 533505-533514, 533542-533544, 533590-533597, 533610-533612, 533766-533830, 533839-533888, 533902-533944, 534212-534240, 534258-534322
100TALDO1110.708086785009862961014747488, 747499-747501, 747517-747520, 747549-747578, 755905-755913, 760149, 760155-760162, 760177, 763344-763370, 763383-763461, 763472, 763747-763778, 763827-763833, 763838-763841, 763866-763916, 763930, 763943-763944, 764291, 764320-764347, 764379, 764396-764399, 764839
101SLC25A22110.16975308641975807972791917-791961, 791973-792059, 792065-792068, 792142-792217, 792353-792458, 792553-792727, 792873-792944, 792952-792988, 793529-793543, 793556, 793559, 793583-793619, 794496-794513, 794781-794901, 794987-794989, 794998-795006
102PNPLA2110.382838283828389351515819723-819891, 821631-821638, 821642, 821683, 821695, 821713-821754, 821786-821796, 821958-821968, 821999, 822004, 822009, 822014-822023, 822420, 822467-822506, 822536-822581, 823527-823574, 823580-823587, 823697, 823728-823746, 823757-823778, 823787-823855, 823998-824041, 824064-824073, 824079-824080, 824085, 824093-824130, 824328-824329, 824339-824361, 824409-824420, 824424, 824429-824436, 824523-824557, 824561, 824578-824618, 824627-824631, 824640-824685, 824691-824740, 824751-824855
103CTSD110.3470540758676480912391774733-1774736, 1774742-1774900, 1775033-1775060, 1775072-1775090, 1775104-1775131, 1775224-1775246, 1775277-1775331, 1775337-1775368, 1776136-1776140, 1776163-1776193, 1776252, 1778554-1778613, 1778645, 1778648-1778658, 1778702-1778711, 1778742-1778786, 1780199-1780207, 1780223-1780317, 1780746-1780753, 1780784-1780787, 1780797, 1780807-1780825, 1780830, 1780850-1780853, 1782539-1782572, 1782591-1782597, 1782614, 1782617-1782623, 1782636-1782637, 1782645, 1782648-1782663, 1782679-1782698, 1785022-1785089
104TNNI2110.46083788706742965491861454-1861468, 1861633-1861674, 1861758-1861838, 1861840-1861886, 1862049-1862055, 1862059, 1862084-1862090, 1862261-1862281, 1862290-1862291, 1862294, 1862305-1862309, 1862312, 1862316-1862319, 1862333-1862336, 1862346-1862400, 1862764, 1862778-1862779
105TNNT3110.10424710424716967771944785-1944790, 1946329-1946346, 1947925-1947930, 1947939, 1950350-1950373, 1951040-1951058, 1953708-1953744, 1954951-1955067, 1955161-1955238, 1955562-1955675, 1955776-1955885, 1956059-1956121, 1956134, 1956144-1956149, 1958193-1958233, 1959668-1959722
106H19110.8898225957049511810712017110, 2017581, 2017769, 2017780, 2017816-2017822, 2017906, 2017984-2017999, 2018076-2018100, 2018168, 2018201-2018230, 2018271-2018299, 2018361-2018363, 2018379-2018380
107IGF2110.113924050632916307112154217-2154453, 2154747-2154758, 2154766-2154895, 2156604-2156676, 2156701-2156713, 2156727-2156728, 2156739-2156759, 2161365-2161385, 2161392-2161393, 2161399, 2161409-2161526
108TH110.0063492063492063156515752185463-2185622, 2186462-2186595, 2186898-2186993, 2187232-2187288, 2187710-2187779, 2187863-2187998, 2188117-2188262, 2188665-2188715, 2189096-2189163, 2189321-2189409, 2189721-2189895, 2190880-2191101, 2191920-2192000, 2192933-2193012
109KCNQ1110.7789266371245744920312466329-2466714, 2591885-2591926, 2593329, 2606536, 2608920-2608922, 2790111, 2790126-2790139, 2799254
110CDKN1C110.014721345951639379512905234-2905298, 2905313-2905364, 2905900-2906719
111SMPD1110.993670886075951218966411936-6411947
112SBF2110.99963963963964255509838469-9838470
113KCNJ11110.9906223358908811117317408792-17408799, 17409069, 17409596-17409597
114ABCC8110.9890434049726152474617415856-17415861, 17498202, 17498205-17498214, 17498263, 17498268-17498276, 17498286-17498310
115WT1110.88738738738739175155432417806, 32417809, 32417851, 32449511-32449522, 32456365-32456369, 32456380-32456384, 32456452-32456457, 32456481-32456484, 32456490, 32456502, 32456512, 32456588-32456590, 32456599, 32456615-32456659, 32456670-32456690, 32456717-32456748, 32456782-32456816
116ALX4110.997572815533983123644331279-44331281
117SLC35C1110.996212121212124105645827617-45827618, 45827624, 45827837
118PEX16110.80979827089337198104145931657-45931704, 45932483-45932491, 45935406-45935415, 45935452-45935453, 45935689-45935695, 45935750-45935752, 45935878-45935895, 45935943-45935975, 45935983-45935994, 45937046-45937048, 45937370-45937385, 45939028-45939029, 45939032-45939033, 45939044, 45939254-45939284, 45939317
119F2110.92616372391653138186946742083-46742084, 46742089-46742090, 46747487-46747517, 46747541-46747573, 46747637-46747650, 46748056-46748070, 46748093, 46748098-46748108, 46748171-46748176, 46750992-46751007, 46751073-46751079
120DDB2110.999221183800621128447238019
121MADD110.998786407766996494447306500-47306505
122MYBPC3110.85803921568627543382547354757-47354766, 47362794, 47363668, 47364644-47364645, 47364653, 47367802, 47367820-47367846, 47367860-47367900, 47368187-47368195, 47368976-47369001, 47369202, 47369411-47369438, 47370022-47370029, 47370036-47370065, 47370071-47370075, 47370078-47370086, 47370089, 47370092, 47371339-47371369, 47371437, 47371457, 47371573-47371608, 47371644-47371651, 47372053-47372068, 47372115, 47372118-47372148, 47372152, 47372163-47372166, 47372790-47372817, 47372840, 47372851-47372959, 47372986, 47372991-47373026, 47373029, 47373034, 47373044-47373056, 47374178-47374198
123SLC39A13110.9408602150537666111647431775, 47433897-47433941, 47435983-47435988, 47435992-47435997, 47436604-47436611
124RAPSN110.81436642453592230123947459526-47459531, 47459542-47459578, 47460292-47460303, 47460306, 47460317-47460334, 47460365-47460387, 47460403, 47460427, 47460457-47460482, 47463233-47463247, 47463409-47463421, 47463447, 47464208-47464214, 47464266-47464298, 47469485, 47470353-47470375, 47470464-47470475
125NDUFS3110.99622641509434379547600878, 47602422, 47602500
126SERPING1110.9900199600798415150357365750-57365764
127TMEM216110.935606060606061726461165315-61165318, 61165322-61165334
128BEST1110.998293515358363175861723274-61723275, 61723320
129ROM1110.997159090909093105662380754-62380755, 62381301
130BSCL2110.999280057595391138962472934
131SLC22A12110.59626955475331671166264359045-64359046, 64359088-64359089, 64359094-64359115, 64359142-64359152, 64359156, 64359164, 64359204-64359208, 64359286-64359290, 64359299-64359301, 64359318-64359322, 64359335, 64359353, 64359390-64359414, 64360262-64360265, 64360269, 64360274, 64360278-64360281, 64360300-64360303, 64360307, 64360325-64360343, 64360877-64360883, 64360902, 64360908-64360914, 64360972-64360992, 64361009-64361031, 64361107-64361121, 64361161-64361230, 64361253-64361275, 64365988-64366017, 64366092-64366095, 64366294-64366308, 64366314-64366352, 64366390, 64367148-64367179, 64367184-64367190, 64367207-64367303, 64367309-64367356, 64367844-64367869, 64367879-64367895, 64367914-64367947, 64368266, 64368270-64368289, 64368327, 64368332-64368336, 64368339, 64368343, 64368993-64368999
132PYGM110.79952550415184507252964514131-64514132, 64514265, 64514268, 64518804, 64520587-64520600, 64520603, 64521025-64521112, 64521368-64521389, 64521396-64521444, 64521451-64521497, 64521738-64521768, 64521787, 64521790-64521791, 64522255-64522261, 64522278, 64522288-64522308, 64522977-64522986, 64525257-64525294, 64525743-64525762, 64525765-64525770, 64525795-64525821, 64525909-64525914, 64525947-64525980, 64526132, 64526141-64526158, 64526164-64526168, 64526171-64526176, 64527128-64527131, 64527160, 64527166, 64527183-64527189, 64527224-64527229, 64527293-64527297, 64527307, 64527336, 64527341-64527361
133MEN1110.84307359307359290184864571820-64571823, 64571826-64571833, 64571843-64571846, 64571855-64571856, 64572018, 64572025-64572036, 64572041-64572043, 64572082-64572120, 64572247, 64572273, 64572531-64572558, 64572579-64572612, 64573133, 64573147, 64573192-64573194, 64573728-64573737, 64574493, 64575024-64575042, 64577175, 64577230-64577256, 64577352, 64577448-64577459, 64577487-64577493, 64577501-64577544, 64577549-64577574
134RNASEH2C110.939393939393943049565488106, 65488138-65488143, 65488170-65488172, 65488210-65488229
135EFEMP2110.9271771771771897133265635766-65635776, 65635994-65636005, 65637356, 65637617-65637627, 65637688-65637689, 65638644-65638659, 65639763-65639805, 65639817
136CST6110.99777777777778145065780410
137SPTBN2110.9875923602397989717366468022, 66468209, 66468307-66468323, 66468395-66468400, 66468469, 66468531, 66469138, 66472072-66472074, 66472219, 66472291, 66472614, 66472637-66472638, 66472895, 66473254, 66473296, 66475125, 66475128-66475129, 66475252-66475266, 66475274-66475281, 66475612-66475613, 66475621-66475626, 66475670-66475672, 66481108-66481113, 66481120, 66483308, 66483328, 66483331, 66483344-66483346
138PC110.74045801526718918353766616454-66616483, 66616535, 66616825-66616841, 66617124-66617130, 66617165, 66617252, 66617262, 66617266, 66617308, 66617311-66617313, 66617317-66617323, 66617436-66617475, 66617527-66617530, 66617537, 66617542, 66617548, 66617561-66617583, 66617693, 66617714-66617724, 66617790, 66617823-66617856, 66617892-66617894, 66618166, 66618169-66618170, 66618255-66618301, 66618307-66618308, 66618371-66618379, 66618532, 66618562-66618579, 66618731-66618750, 66619299, 66619390, 66619911-66619912, 66619924-66619927, 66619930-66619946, 66619952-66619957, 66619963-66619964, 66619967-66619969, 66619987-66620015, 66620036-66620076, 66620088-66620131, 66620218-66620239, 66620278-66620307, 66620735, 66620740-66620744, 66620747-66620751, 66620754, 66620757, 66620760, 66620833, 66620838-66620846, 66631251, 66631254, 66631285, 66631308-66631356, 66631395-66631427, 66633671-66633717, 66633740-66633752, 66633794-66633810, 66633818-66633820, 66637773-66637792, 66637796, 66637813, 66637847, 66638277, 66638311-66638316, 66638346-66638362, 66638526-66638533, 66638581-66638617, 66638636-66638668, 66638787-66638796, 66638802, 66638806, 66638841-66638845, 66638848-66638862, 66638888-66638889, 66638897-66638898, 66638905, 66638909-66638911, 66639185-66639239, 66639495-66639507, 66639518-66639520, 66639544
139CABP4110.7669082125603919382867222931-67222933, 67222942, 67222959-67222996, 67223074-67223099, 67223141, 67223152, 67223161, 67223166-67223170, 67223204-67223207, 67223224-67223225, 67223234-67223249, 67223659-67223663, 67223825, 67223882-67223913, 67225095, 67225895-67225916, 67225926-67225943, 67225957, 67225961-67225968, 67225983-67225989
140AIP110.3061430010070568999367254477, 67254564, 67254572-67254576, 67254597-67254643, 67256749-67256751, 67256760-67256863, 67256868, 67256874, 67256882-67256887, 67257509-67257677, 67257683-67257685, 67257787-67257928, 67258259-67258464
141NDUFS8110.7077409162717218563367799619-67799624, 67799656-67799662, 67799788-67799803, 67800390-67800402, 67800418-67800433, 67800448-67800449, 67800460-67800475, 67800578-67800594, 67800637-67800640, 67800642, 67800653-67800654, 67800688-67800689, 67803724-67803735, 67803751-67803752, 67803756, 67803763-67803774, 67803786, 67803929-67803959, 67803992-67803993, 67804023, 67804035-67804040, 67804045-67804059
142TCIRG1110.76133172884075595249367808744-67808767, 67808790-67808797, 67808823-67808824, 67808840, 67808853-67808855, 67809220-67809235, 67809247, 67810168-67810218, 67810261-67810278, 67810296-67810299, 67810305-67810321, 67810413-67810419, 67810445-67810448, 67810466-67810498, 67810842-67810849, 67810891-67810904, 67810929-67810936, 67811300-67811330, 67811349-67811355, 67811373, 67811653-67811673, 67811700-67811714, 67811725-67811767, 67811791-67811810, 67812430-67812432, 67812489-67812502, 67815235-67815240, 67816456-67816464, 67816548-67816564, 67816568-67816577, 67816590-67816593, 67816602-67816604, 67816637-67816638, 67816641-67816645, 67816702-67816731, 67817138-67817160, 67817209-67817214, 67817235-67817255, 67817532-67817533, 67817613-67817661, 67817690-67817710, 67817954-67817965, 67818092
143LRP5110.87355610561056613484868080183-68080273, 68125201-68125207, 68131215-68131229, 68131256, 68131294-68131298, 68131316, 68131358-68131362, 68131384-68131385, 68131393-68131407, 68133133-68133135, 68154174-68154180, 68171025-68171032, 68171093, 68174068-68174106, 68177516, 68177549, 68177596, 68179055, 68181353-68181378, 68181438-68181444, 68191117, 68191127-68191132, 68192588-68192592, 68192647-68192649, 68197140-68197147, 68201118-68201124, 68201165-68201167, 68201219-68201224, 68201250-68201259, 68201303-68201304, 68204410, 68204440-68204467, 68205949-68205979, 68206001, 68206021, 68206024-68206025, 68206055-68206057, 68206122-68206124, 68206128-68206131, 68206139-68206140, 68206146, 68207248-68207268, 68207298-68207384, 68213917-68213918, 68213959-68213981, 68216278-68216290, 68216306-68216339, 68216358-68216359, 68216406-68216409, 68216446-68216457, 68216488-68216537
144CPT1A110.998708010335923232268527732-68527734
145IGHMBP2110.96579476861167102298268671473-68671484, 68696744, 68696747-68696750, 68696758-68696762, 68696777, 68700892, 68701988, 68702858, 68704012, 68704076-68704089, 68704107, 68704231, 68704342, 68704488, 68704500-68704538, 68707025-68707027, 68707036-68707049, 68707052
146DHCR7110.9908963585434213142871146421-71146423, 71146531-71146533, 71146569, 71146573, 71146577, 71146691, 71148869-71148871
147MYO7A110.66892298435622201664876853867, 76858869-76858874, 76858905, 76867988-76868033, 76869394-76869396, 76873349, 76873374, 76873936, 76874017, 76877156, 76883794-76883809, 76883821-76883877, 76883883-76883931, 76885802-76885960, 76886418-76886510, 76888595-76888689, 76890091-76890175, 76890781-76890999, 76891420-76891527, 76892426-76892635, 76892997-76893200, 76893469-76893645, 76894113-76894202, 76895633-76895674, 76895701-76895759, 76900389-76900424, 76900449-76900453, 76900456-76900469, 76900481-76900483, 76900508-76900515, 76901081-76901184, 76901746-76901749, 76901784-76901902, 76901908-76901915, 76903096-76903187, 76903259-76903261, 76903297-76903303, 76903310-76903323, 76908546-76908557, 76909569-76909582, 76909637-76909639, 76909648-76909666, 76910594-76910598, 76910766, 76912682-76912683, 76918378, 76918386, 76918389
148FZD4110.9826517967781928161486666075-86666102
149DLAT110.9994855967078211944111896407
150DRD2110.99699699699741332113283278-113283281
151APOA1110.9029850746268778804116706545, 116706606-116706613, 116706654-116706656, 116706661-116706663, 116706741-116706759, 116706778-116706806, 116706813-116706816, 116706842-116706844, 116707729-116707736
152FXYD2110.9566210045662119438117693271, 117693289-117693306
153SLC37A4110.9981273408239721068118897774, 118897782
154DPAGT1110.9991850040749811227118972309
155TECTA110.9993812838360446465120989236, 120989338, 120989343, 120989348
156ROBO3110.99471280942081224161124735474-124735495
157WNK1120.98615190935795997149862733-862737, 862740-862741, 862747, 862753, 862837-862839, 862879-862910, 862986, 863144-863181, 863208, 863326-863328, 994395-994405, 994808
158CACNA2D4120.987697715289984234141904839-1904843, 1906584-1906592, 1906620-1906636, 1908843, 1909192, 1909195-1909201, 1909571-1909572
159CACNA1C120.997713763145861565612676848, 2690760, 2705118-2705122, 2705130, 2794934-2794940
160VWF120.9761904761904820184426125722-6125728, 6127532-6127538, 6127637-6127661, 6128064-6128087, 6128228-6128234, 6128300, 6128449-6128451, 6131926-6131932, 6131955-6131982, 6132003-6132033, 6166038-6166040, 6166045, 6166076, 6166107-6166144, 6166154-6166171
161TNFRSF1A120.97807017543863013686438592-6438621
162SCNN1A120.99862825788752321876457321-6457322, 6458512
163TPI1120.976187506976731-6976740, 6976765, 6976837-6976843
164ATN1120.99916036943745335737045892-7045894
165ABCC9120.999784946236561465022025622
166KRAS120.99473684210526357025380197-25380198, 25380207
167PKP2120.9864757358790834251433049448-33049453, 33049460, 33049463-33049489
168IRAK4120.9906001446131613138344166755-44166756, 44180483-44180493
169COL2A1120.9955197132616520446448373792-48373802, 48374355, 48377870-48377872, 48380219-48380221, 48383544-48383545
170MLL2120.947634525099318701661449424135, 49424142-49424161, 49425111, 49425121-49425136, 49425427-49425430, 49425651-49425653, 49425787-49425799, 49426042-49426047, 49426223-49426229, 49426477, 49426482-49426483, 49426503-49426526, 49426562-49426605, 49426623-49426624, 49426627-49426632, 49426644, 49426651-49426653, 49426658, 49426708-49426791, 49426843-49426849, 49426883-49426926, 49426944-49426957, 49427027-49427082, 49427089, 49427097-49427103, 49427109-49427123, 49427184-49427232, 49427247-49427290, 49427312-49427333, 49427596-49427602, 49427650-49427667, 49430908-49430910, 49431022-49431030, 49431206-49431233, 49431258-49431323, 49431338-49431387, 49431439-49431440, 49431483-49431499, 49431510-49431513, 49431522-49431527, 49431675-49431677, 49431707-49431721, 49431870-49431914, 49431933, 49431937-49431966, 49431972, 49431993, 49432497-49432542, 49433276, 49433317, 49433373-49433374, 49434062-49434071, 49434074, 49434107-49434110, 49435125
171DHH120.999160369437451119149488208
172TUBA1A120.958333333333331945649522445, 49522468, 49522572-49522588
173AQP2120.985294117647061281650344846-50344852, 50349341-50349345
174ACVRL1120.996693121693125151252308349-52308353
175KRT81120.9716732542819543151852681437, 52684021-52684047, 52684909-52684912, 52685180-52685183, 52685187-52685193
176KRT86120.9760438056125935146152695754, 52696907-52696933, 52699030-52699036
177KRT83120.9892037786774616148252715023-52715038
178KRT6B120.9598820058997168169552844240-52844268, 52845528-52845534, 52845598-52845604, 52845662-52845686
179KRT6C120.9911504424778815169552865918, 52865925, 52867190, 52867257-52867263, 52867324, 52867339-52867342
180KRT5120.999435984207561177352908890
181KRT4120.999439775910361178553201533
182AAAS120.9616087751371163164153702241-53702242, 53703049-53703052, 53703429-53703457, 53708152, 53708173-53708192, 53708604, 53708609-53708614
183RDH5120.99895506792059195756115605
184RPS26120.99137931034483334856435951-56435953
185MYO1A120.9942528735632218313257431755, 57431759-57431774, 57431828
186GNS120.999397227245331165965152978
187CEP290120.999327956989255744088462369, 88462372-88462375
188TMPO120.999040767386092208598925598-98925599
189SLC25A3120.999081726354451108998992448
190UNG120.9883227176220811942109535497-109535500, 109547646-109547652
191MMAB120.992031872509966753109998886-109998891
192TRPV4120.9927370030581192616110221444-110221446, 110230598, 110236600, 110236609-110236611, 110246259-110246269
193ATXN2120.8378995433796393942111908416-111908423, 112036588-112036838, 112036856-112037151, 112037196, 112037205-112037233, 112037248-112037249, 112037260-112037263, 112037271-112037318
194SDS120.9746707193515725987113830807, 113835090-113835098, 113835176-113835180, 113836376-113836378, 113837402-113837408
195ACADS120.98385794995964201239121175705, 121176369, 121176380, 121176679-121176685, 121177154-121177160, 121177227-121177229
196HNF1A120.97521097046414471896121416623-121416629, 121434346-121434364, 121437375-121437376, 121437382-121437383, 121438895-121438905, 121438921, 121438991-121438995
197HPD120.776649746192892641182122277857, 122277860, 122277915-122277944, 122284794-122284796, 122284806-122284812, 122285003, 122285013, 122285031-122285037, 122285061-122285099, 122286905, 122286918, 122286949-122286953, 122286960-122286971, 122287593-122287608, 122287622-122287673, 122287684, 122287694-122287696, 122292615-122292621, 122292658-122292682, 122294296-122294308, 122294489-122294494, 122294507, 122294519-122294525, 122295240-122295244, 122295268, 122295273, 122295276-122295280, 122295335, 122295673-122295679, 122295691, 122295706-122295708
198ATP6V0A2120.9996110462854912571124197194
199PUS1120.904984423676011221284132414277-132414290, 132414476-132414497, 132414510-132414528, 132414584, 132425970-132426016, 132426086-132426096, 132426159-132426161, 132426492-132426496
200SACS130.9999272197962211374023912864
201B3GALTL130.9766199064796335149731774223-31774227, 31774235, 31774253-31774281
202BRCA2130.99844008969484161025732903628-32903629, 32954269-32954282
203FREM2130.999684542586753951039261634-39261636
204SUCLA2130.997844827586213139248571072-48571074
205ZIC2130.858036272670422271599100634394-100634412, 100634444-100634451, 100634454-100634456, 100634513, 100634584-100634592, 100634597, 100634812, 100635008-100635013, 100635160, 100637315-100637318, 100637590, 100637670-100637690, 100637707-100637747, 100637764-100637775, 100637781, 100637785, 100637790, 100637802-100637808, 100637818-100637820, 100637835-100637889, 100637906-100637936
206COL4A1130.99241516966068385010110959319-110959356
207F7130.337078651685398851335113760156-113760219, 113765019, 113765037-113765094, 113765102-113765163, 113768083, 113768161-113768187, 113768207-113768214, 113768228-113768231, 113768253, 113768269-113768274, 113769974-113770099, 113770111-113770114, 113771128, 113771151-113771183, 113771827-113771837, 113771844, 113771848, 113771853, 113771857-113771859, 113771863, 113771866, 113771875-113771910, 113772736-113772755, 113772779-113772790, 113772806, 113772829-113772839, 113772850, 113772872-113773138, 113773153, 113773159, 113773185-113773273, 113773277-113773280, 113773296-113773322
208F10130.94819359236537761467113777170-113777239, 113803539, 113803558-113803559, 113803571-113803573
209GRK1130.97458628841608431692114321722-114321723, 114321919, 114322199-114322201, 114325863-114325888, 114426049, 114426053, 114426082, 114426088-114426090, 114436049-114436051, 114436056-114436057
210TEP1140.999746321664132788420844420, 20853231
211RPGRIP1140.9979279979288386121769158-21769164, 21769329
212PABPN1140.989142236699241092123790984-23790993
213MYH6140.9982817869415810582023858609, 23870150-23870151, 23871995-23872001
214MYH7140.9960399449035823580823886077-23886080, 23887420, 23887533, 23887538-23887554
215NRL140.924369747899165471424550549-24550558, 24550587-24550630
216TGM1140.9873675631621831245424723490, 24723493, 24724219, 24724305-24724315, 24725196-24725197, 24725241-24725246, 24728945-24728952, 24731448
217FOXG1140.84285714285714231147029236535-29236536, 29236624-29236626, 29236688-29236711, 29236724, 29236760-29236960
218COCH140.999395039322441165331344280
219NKX2-1140.995024875621896120636986711-36986715, 36986718
220C14orf104140.9900556881463825251450101094-50101100, 50101117, 50101221, 50101258, 50101261, 50101353, 50101370, 50101415-50101421, 50101590, 50101593, 50101596, 50101600-50101601
221GCH1140.976095617529881875355369066, 55369129-55369137, 55369234-55369240, 55369364
222SYNE2140.9982628836132362072464580240-64580274, 64685224
223ZFYVE26140.99881889763789762068241749-68241757
224VSX2140.9668508287292836108674706319-74706322, 74706458-74706481, 74706602-74706604, 74706627-74706631
225FLVCR2140.9784946236559134158176045362, 76045370, 76045432-76045434, 76045505-76045506, 76045616-76045628, 76045704-76045706, 76045737-76045747
226ESRRB140.990176817288815152776957890, 76957908-76957909, 76957912-76957915, 76964687-76964694
227POMT2140.9742565468264558225377745193, 77786777-77786780, 77786815-77786820, 77786823-77786825, 77786840, 77786846-77786851, 77786874-77786907, 77787001, 77787004, 77787007
228VIPAR140.998650472334682148277917546, 77917646
229AMN140.01321585903083713441362103389026-103389068, 103390048-103390166, 103390272-103390316, 103394763-103394850, 103395095-103395312, 103395458-103395470, 103395480, 103395490-103395595, 103395765-103395873, 103395992-103396074, 103396261-103396423, 103396502-103396664, 103396743-103396830, 103396913-103397017
230INF2140.1861333333333330523750105167703-105167992, 105168006-105168015, 105168020-105168021, 105168025-105168053, 105168071-105168093, 105169442-105169520, 105169531-105169548, 105169632-105169731, 105169751-105169791, 105170253-105170286, 105172372-105172412, 105172421-105172470, 105173255-105173288, 105173291, 105173302, 105173305-105173306, 105173318-105173321, 105173332, 105173336-105173368, 105173590-105173614, 105173623-105173648, 105173655-105173657, 105173660, 105173674-105173841, 105173856-105174339, 105174773-105174924, 105175008-105175032, 105175058-105175069, 105175618-105175626, 105175667-105175673, 105175702-105175703, 105175706, 105175957-105176042, 105176425-105176450, 105176458-105176479, 105176481-105176482, 105176492-105176525, 105177274, 105177300-105177314, 105177325-105177344, 105177416-105177523, 105177966-105177990, 105178007-105178036, 105178770-105178814, 105178828-105178857, 105178870-105178890, 105179165-105179322, 105179546, 105179567-105179568, 105179574-105179577, 105179597, 105179600-105179646, 105179782-105179943, 105180540-105180588, 105180594-105180618, 105180627-105180653, 105180670, 105180673, 105180680-105180741, 105180747-105180754, 105180772-105180776, 105180780-105180816, 105180841-105180847, 105180878, 105180892-105180898, 105180904-105180932, 105180953-105180991, 105180995, 105181009-105181193, 105181624, 105181636-105181654
231NIPA1150.803030303030319599023048839-23048845, 23049008, 23049035, 23049105, 23049109-23049113, 23049116, 23049128, 23086234-23086411
232IVD150.9914129586260711128140698022-40698024, 40698052-40698058, 40698139
233CHST14150.79929266136163227113140763413-40763430, 40763440, 40763447-40763492, 40763498-40763520, 40763524-40763595, 40763606, 40763609, 40763669, 40763672-40763674, 40763688-40763690, 40763769, 40763795-40763839, 40763877-40763885, 40764534-40764536
234STRC150.992304804804841532843910863-43910903
235SPG11150.9965902891434825733244858429, 44867129, 44912447, 44914515-44914536
236DUOX2150.997417688831512464745392417-45392419, 45398408, 45398459, 45398465-45398469, 45399052-45399053
237FBN1150.999883936861651861648791194
238CEP152150.998590130916417496549076221-49076227
239SCG3150.997157071783944140751980541-51980544
240TPM1150.99649122807018385563335060, 63335919, 63335996
241PPIB150.99846390168971165164455116
242CLN6150.974358974358972493668500484-68500501, 68500666, 68506709-68506710, 68521874, 68521905, 68521918
243HEXA150.998113207547173159072668066, 72668069-72668070
244BBS4150.999358974358971156073023775
245HCN4150.81229235880399678361273614879-73614896, 73615010-73615015, 73615026, 73615030, 73615041, 73615058, 73615073, 73615080-73615084, 73615104-73615132, 73615163-73615175, 73615297-73615298, 73615416-73615449, 73615500-73615503, 73615584, 73615587, 73615620, 73615719, 73615875, 73616135-73616141, 73616224-73616227, 73616517, 73616520-73616523, 73616594, 73617684, 73659848-73659861, 73659895-73659919, 73659949-73659957, 73659988-73660068, 73660075-73660077, 73660080, 73660086-73660093, 73660103, 73660114-73660253, 73660265, 73660285-73660316, 73660333-73660339, 73660342-73660343, 73660355-73660386, 73660414-73660461, 73660464-73660478, 73660482-73660528, 73660539-73660611
246PSTPIP1150.0287769784172661215125177310489-77310589, 77310798-77310872, 77317625-77317659, 77317839-77317945, 77320193-77320255, 77320895-77320993, 77321870-77321915, 77322843-77322922, 77323521-77323619, 77324639-77324735, 77325203-77325293, 77327849-77327904, 77328143-77328276, 77329386-77329517
247RPS17150.9828431372549740882823387-82823393
248RPS17150.97794117647059940883207730-83207736, 83208755-83208756
249POLG150.9862903225806551372089870167, 89872033-89872041, 89876824-89876864
250MESP2150.9363484087102276119490319682, 90319696, 90319763-90319774, 90319857-90319859, 90320135-90320146, 90320158, 90320161, 90320173, 90320250-90320280, 90320389-90320396, 90320401-90320405
251BLM150.9870709920075255425491303824-91303836, 91337397-91337411, 91337480-91337481, 91337486, 91337557-91337577, 91337587, 91354555, 91358359
252IGF1R150.9958576998050717410499192876-99192884, 99192892, 99192895, 99500666-99500671
253HBZ160.20979020979021339429202920-202979, 203891-203907, 203928-204095, 204271-204319, 204325-204331, 204342-204379
254HBM160.9178403755868535426216033-216034, 216040-216048, 216053, 216312-216319, 216326, 216338, 216406-216415, 216422, 216443-216444
255HBA2160.40559440559441255429222912-222977, 222991-223006, 223137-223160, 223172-223197, 223208-223260, 223272-223282, 223309-223312, 223471-223493, 223528-223529, 223544-223560, 223563-223574, 223578
256GNPTG160.711328976034862659181401967-1402018, 1402103-1402160, 1402240-1402307, 1411789-1411792, 1412039-1412050, 1412207, 1412246-1412290, 1412486, 1412529-1412535, 1412718-1412723, 1413027-1413030, 1413034-1413036, 1413045-1413048
257CLCN7160.25930521091811179124181496632-1496652, 1496663-1496718, 1497007-1497087, 1497393-1497569, 1497656-1497715, 1498356, 1498373-1498375, 1498379-1498419, 1498433-1498485, 1498682-1498725, 1498733-1498767, 1498967-1499094, 1499277-1499328, 1500498-1500667, 1501624-1501717, 1502756-1502894, 1503835-1503851, 1503869-1503895, 1504412-1504466, 1505141-1505148, 1505161-1505166, 1505172-1505251, 1505732-1505734, 1505745-1505757, 1505760-1505796, 1506114-1506120, 1506128-1506130, 1506146-1506147, 1506149, 1506158-1506207, 1507255-1507266, 1507700-1507706, 1509108-1509154, 1509160-1509188, 1510436, 1510443-1510457, 1510460-1510479, 1510496, 1510823-1510826, 1510852, 1510882-1510888, 1511406-1511442, 1511463-1511464, 1511467-1511471, 1515336-1515339, 1524835-1524853, 1524860-1524975
258IGFALS160.11594202898551170819321840601-1840696, 1840719, 1840729-1840783, 1840792-1840941, 1840948-1841109, 1841126-1841194, 1841205-1841674, 1841681-1841696, 1841719, 1841725, 1841728, 1841740-1842047, 1842057, 1842072-1842105, 1842108-1842200, 1842205-1842213, 1842239-1842337, 1842360-1842439, 1842449, 1842467-1842516, 1843643-1843653
259GFER160.135922330097095346182034220-2034477, 2034748-2034753, 2034774, 2034780-2034795, 2034798, 2034806-2034923, 2034936-2034937, 2035867-2035892, 2035901-2035957, 2035965-2035967, 2035984-2036029
260TSC2160.15634218289086457654242098622-2098690, 2098721-2098754, 2100401-2100431, 2100439-2100463, 2103343-2103355, 2103372-2103399, 2103408-2103453, 2104327, 2104330-2104331, 2104342-2104346, 2104363-2104371, 2104390, 2104396-2104406, 2104427-2104441, 2105436, 2105468-2105475, 2105480, 2106197-2106224, 2106235-2106245, 2106649-2106665, 2108758-2108852, 2108868-2108874, 2110671-2110691, 2110700-2110814, 2111872-2111947, 2111957-2112009, 2112498-2112500, 2112522-2112568, 2112576, 2112582-2112599, 2112973-2113037, 2113048-2113054, 2114327-2114330, 2114346, 2114349, 2114355-2114428, 2115536, 2115571-2115572, 2115575-2115636, 2120457-2120526, 2120537-2120579, 2121511-2121570, 2121596-2121617, 2121785-2121935, 2122242-2122266, 2122284, 2122289-2122293, 2122301, 2122329, 2122340-2122364, 2122872-2122984, 2124201-2124259, 2124265-2124390, 2125800-2125893, 2126069-2126157, 2126492-2126586, 2127599-2127727, 2129033-2129197, 2129277-2129429, 2129558-2129670, 2130166-2130378, 2131596-2131799, 2132437-2132505, 2133696-2133817, 2134229-2134716, 2134952-2135027, 2135231-2135323, 2136194-2136380, 2136733-2136872, 2137864-2137942, 2138049-2138140, 2138228-2138326, 2138447-2138611
261PKD1160.001626394052044612891129122139728-2140195, 2140286-2140591, 2140675-2140809, 2140885-2141175, 2141424-2141598, 2141782-2141907, 2142048-2142189, 2142481-2142593, 2142955-2143094, 2143545-2143739, 2143812-2143875, 2143882-2144014, 2144093-2144211, 2147149-2147242, 2147320-2147504, 2147738-2147781, 2147869-2147985, 2149645-2149771, 2149862-2150072, 2150167-2150310, 2150397-2150567, 2152062-2152257, 2152382-2152634, 2152815-2152971, 2153267-2153896, 2154499-2154643, 2155323-2155475, 2155866-2156025, 2156092-2156305, 2156399-2156678, 2156806-2156949, 2157884-2158033, 2158253-2161872, 2162341-2162474, 2162789-2162964, 2163162-2163293, 2164171-2164926, 2165379-2165626, 2165993-2166119, 2166530-2166645, 2166834-2167054, 2167490-2167673, 2167792-2168463, 2168677-2168846, 2169115-2169186, 2169308-2169379, 2185482-2185690
262ABCA3160.79550342130987104651152326687-2326724, 2326731-2326737, 2327606, 2327656-2327662, 2328012, 2328017-2328018, 2328042-2328070, 2328333, 2328379-2328409, 2328977-2328983, 2328993, 2329011, 2329065, 2329086, 2331036-2331037, 2331087, 2331096, 2331129-2331178, 2331197-2331222, 2331382-2331383, 2331393, 2331412-2331472, 2331494-2331510, 2333187-2333228, 2333248, 2333272, 2333285, 2333294, 2333298, 2333302-2333310, 2333318-2333359, 2334310, 2334331, 2334334-2334336, 2334352, 2334393, 2334813, 2334942-2334944, 2334951-2334953, 2334961-2334999, 2335453-2335476, 2335510-2335580, 2336807, 2336812, 2336819, 2336822-2336824, 2336896-2336932, 2336962-2336968, 2338067, 2338081-2338096, 2338135-2338141, 2338204, 2338281, 2338305-2338330, 2339435, 2339506-2339524, 2339533-2339535, 2339562, 2342141-2342162, 2342198-2342239, 2345610-2345647, 2345726-2345740, 2347339-2347356, 2347371, 2347375, 2347378-2347390, 2347394-2347407, 2347430-2347444, 2347540, 2347773-2347808, 2347820-2347855, 2347866-2347867, 2347872, 2347894, 2348431, 2348461-2348467, 2348499-2348502, 2348506-2348508, 2349432, 2349458-2349479, 2349529-2349530, 2350006-2350029, 2350059-2350065, 2350102-2350103, 2354050-2354056, 2354096, 2354099-2354113, 2358619, 2367754-2367760, 2369594, 2369645-2369666, 2374486-2374487
263MEFV160.978260869565225123463293288, 3293293-3293296, 3293354-3293359, 3293626-3293638, 3293888, 3304456-3304457, 3304460, 3304496-3304499, 3306335-3306347, 3306395, 3306421-3306425
264SLX4160.9673024523160818055053632377-3632381, 3632384-3632387, 3632463, 3632507-3632517, 3632527-3632530, 3633170-3633176, 3633305-3633309, 3633312, 3633318, 3639273-3639281, 3639447-3639459, 3639490, 3639642, 3639654, 3639795-3639804, 3639831-3639834, 3639843-3639845, 3639976, 3639979, 3639983, 3641301, 3642760, 3642800-3642826, 3642841-3642844, 3642858-3642866, 3644467, 3646277-3646287, 3647806-3647819, 3647880-3647892, 3647895, 3651015-3651023, 3652142, 3656590-3656593
265CREBBP160.946923181880238973293777723, 3777728-3777737, 3777793-3777798, 3778133-3778164, 3778243-3778247, 3778396, 3778400-3778412, 3778440-3778442, 3778448-3778470, 3778668, 3778701-3778716, 3778759, 3778763-3778793, 3778841-3778846, 3778850, 3778889-3778908, 3778950-3779016, 3779044-3779072, 3779119-3779169, 3779186-3779192, 3779362-3779369, 3779440-3779453, 3779463-3779498, 3779706-3779709, 3779712, 3779717-3779718
266GLIS2160.13079365079365136915754382292-4382308, 4382365-4382385, 4382415-4382453, 4383348-4383365, 4383394, 4383397-4383399, 4383408, 4383417-4383464, 4383478-4383520, 4384802-4384838, 4384847-4384978, 4385061-4385082, 4385101-4385104, 4385110-4385194, 4385276-4385300, 4385315-4385394, 4386726-4387289, 4387297-4387525
267ALG1160.7512544802867434713955121863, 5121871-5121874, 5121902, 5125514, 5125524, 5127447-5127449, 5127520-5127525, 5127969-5127991, 5128758-5128762, 5128775-5128795, 5128807-5128874, 5129093, 5130947-5131008, 5131016-5131057, 5132633-5132656, 5133728-5133758, 5134813-5134836, 5134854-5134882
268ABAT160.99733865602129415038860109-8860111, 8868876
269MYH11160.9905723905723956594015826485-15826488, 15829235, 15839074-15839075, 15844007, 15844053, 15844060-15844061, 15850204-15850225, 15850334-15850350, 15851695-15851697, 15851700, 15851714, 15851717
270ABCC6160.738253546099291181451216244033-16244043, 16244083-16244098, 16244479-16244482, 16244545-16244549, 16248857, 16253339-16253361, 16253390-16253397, 16253427-16253440, 16255305-16255310, 16255314-16255316, 16255319-16255321, 16255342-16255377, 16255406-16255414, 16255420-16255421, 16256868-16256903, 16256936-16257049, 16259480-16259790, 16263503-16263677, 16263691-16263710, 16267141-16267209, 16267215-16267261, 16269768-16269779, 16269799-16269843, 16271321-16271347, 16271357, 16271375-16271382, 16271406-16271483, 16272657-16272664, 16272669-16272670, 16272673, 16272709, 16272749, 16272768-16272771, 16276291-16276297, 16276346-16276349, 16276424-16276433, 16276787, 16278835-16278838, 16278864-16278868, 16280981-16280985, 16280998-16281007, 16282693, 16282699-16282700, 16291971, 16291976-16291986, 16295927-16295929, 16313509-16313515, 16315540-16315546, 16317275, 16317280
271OTOA160.997660818713458342021747697, 21763370-21763376
272OTOA160.9929718875502799622579498-22579504
273SCNN1B160.996359854394187192323391915, 23391918, 23392054-23392058
274COG7160.9883268482490327231323400317-23400340, 23403703, 23403708, 23404660
275CLN3160.91875474563402107131728493464, 28493475-28493477, 28495327-28495333, 28497705-28497720, 28499007-28499011, 28499014-28499016, 28499062, 28499912-28499963, 28500611-28500624, 28500703-28500707
276TUFM160.997807017543863136828857334, 28857378-28857379
277ATP2A1160.9880239520958136300628895896-28895902, 28895906-28895907, 28895975-28895976, 28898746, 28898791, 28898874-28898887, 28898930-28898933, 28911991, 28912159-28912160, 28912224-28912225
278CD19160.997007779772595167128950280-28950284
279PHKG2160.9721539721539734122130760142-30760166, 30760176-30760179, 30760208-30760212
280VKORC1160.99186991869919449231102622-31102623, 31102652, 31105957
281FUS160.9424414927261291158131191542, 31193913-31193919, 31195230-31195241, 31195268-31195292, 31195616-31195618, 31195675-31195683, 31195693-31195698, 31196399-31196426
282SLC5A2160.9757305596830149201931494522, 31494527-31494534, 31494537-31494546, 31498656-31498662, 31499471-31499473, 31500071-31500082, 31500227-31500228, 31500285-31500287, 31501740-31501742
283NOD2160.998719180275384312350733454, 50733817, 50745471-50745472
284SALL1160.999245283018873397551175656-51175658
285RPGRIP1L160.999493414387032394853672312, 53672320
286MMP2160.9919314170448816198355513392-55513396, 55513456-55513466
287BBS2160.997691597414595216656519587-56519591
288SLC12A3160.93954089880375187309356899212-56899213, 56899218-56899230, 56901032, 56912015, 56913481, 56913484-56913494, 56913542-56913558, 56914056-56914058, 56920276, 56920292-56920298, 56920329-56920336, 56920878-56920902, 56920929-56920940, 56921837-56921843, 56921866-56921943
289GPR56160.9912790697674418206457689354-57689356, 57689360, 57691301, 57691312, 57693377-57693383, 57695637-57695639, 57695700, 57695750
290CNGB1160.9898828541001138375657996879-57996902, 58001085-58001090, 58001112-58001119
291TK2160.985930735930741392466583901-66583905, 66583956-66583960, 66584012-66584014
292HSD11B2160.78407224958949263121867465152-67465348, 67465355-67465399, 67469596, 67470009-67470021, 67470026, 67470528-67470529, 67470662, 67470681, 67470725-67470726
293LCAT160.5124716553288645132367973841-67973857, 67973865-67973873, 67973876-67973877, 67973909-67973925, 67973940, 67973944, 67973947-67974009, 67974020-67974138, 67974160-67974163, 67974166-67974168, 67974180-67974225, 67974241, 67974287-67974297, 67974309, 67974313, 67974324, 67976266-67976271, 67976320-67976321, 67976364, 67976399-67976490, 67976574-67976625, 67976635-67976662, 67976779-67976791, 67976804-67976821, 67976834, 67976844-67976864, 67976959-67976993, 67977024, 67977042-67977079, 67977087, 67977855, 67977868-67977881, 67977899-67977901, 67977954-67977966, 67977976, 67977989-67977991, 67977994, 67978002-67978004
294CDH3160.9827309236947843249068718693-68718699, 68721470, 68721515, 68721529, 68721532-68721533, 68721578-68721580, 68721592-68721612, 68725761-68725764, 68725772-68725773, 68725783
295CDH1160.999622499056251264968845743
296COG8160.78031538879826404183969364742-69364757, 69364764-69364765, 69364778-69364864, 69364900-69364901, 69364911-69364920, 69364926-69364936, 69364940, 69364943-69364961, 69366723-69366738, 69368488, 69368700, 69368812-69368818, 69369202-69369214, 69373079-69373090, 69373123-69373144, 69373180-69373189, 69373195-69373286, 69373299, 69373317-69373350, 69373366-69373412
297AARS160.9951840385276914290770292044-70292045, 70296257-70296258, 70296261-70296262, 70296265, 70298889-70298892, 70299556, 70303534, 70303537
298GCSH160.7854406130268211252281116494-81116500, 81129736-81129778, 81129804-81129823, 81129830-81129871
299GAN160.986064659977725179481348750-81348774
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404LDLR190.98245614035088528511240300, 11241957-11241959, 11242115
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464SPAST20.9692058346839557185132289020, 32289068-32289091, 32289222-32289225, 32289288-32289315
465CYP1B120.89460784313725172163238301540, 38301617-38301619, 38301622-38301624, 38301976, 38302004-38302047, 38302151-38302153, 38302205-38302224, 38302253, 38302256-38302262, 38302311-38302316, 38302320-38302338, 38302342-38302349, 38302400-38302404, 38302411-38302461
466SOS120.9975012493753110400239347532-39347541
467ABCG520.998977505112472195644058939-44058940
468ABCG820.91691394658754168202244099115-44099119, 44099122-44099140, 44099228-44099229, 44099239-44099245, 44099248-44099261, 44099363-44099397, 44099422-44099424, 44099428-44099445, 44100926-44100932, 44101032, 44101055, 44101088-44101095, 44101105, 44101122-44101123, 44102367-44102399, 44102438-44102444, 44102468-44102472
469EPCAM20.976719576719582294547596693, 47596697, 47601136-47601137, 47601146-47601150, 47606181-47606193
470MSH220.997860962566846280547630456-47630460, 47630494
471MSH620.97403869703649106408348010380-48010381, 48010384-48010387, 48010433-48010437, 48010442, 48010463-48010481, 48010488, 48010524-48010534, 48010547-48010555, 48010558, 48010562-48010597, 48010616-48010632
472LHCGR20.997142857142866210048982764-48982769
473EFEMP120.998650472334682148256144945, 56144978
474ATP6V1B120.998054474708173154271163085-71163086, 71163108
475DYSF20.97720125786164145636071778176, 71796960-71796964, 71797786-71797790, 71801339-71801341, 71801442-71801444, 71801453-71801464, 71825708-71825714, 71825719-71825732, 71825737-71825741, 71825745-71825747, 71825783-71825809, 71825819-71825828, 71827911-71827913, 71827923-71827929, 71827962-71827972, 71829906-71829920, 71839884, 71847722-71847732, 71847736-71847737
476SPR20.987277353689571078673114618-73114624, 73114800, 73114851-73114852
477ALMS120.9999200255918111250473828342
478MOGS20.93715194908512158251474688424-74688436, 74688814-74688823, 74689027-74689028, 74689760, 74689763-74689765, 74689852-74689858, 74689952, 74691638-74691682, 74691781, 74691785-74691790, 74692182-74692189, 74692202-74692223, 74692249, 74692262-74692264, 74692275, 74692279, 74692285-74692288, 74692315-74692326, 74692342-74692357, 74692361
479GGCX20.9934123847167315227785787987-85787995, 85788523-85788528
480SFTPB20.999127399650961114685895289
481EIF2AK320.9880632646971140335188926617, 88926667-88926671, 88926730-88926735, 88926765-88926792
482TMEM12720.948396094839613771796930876-96930878, 96931068-96931101
483ZAP7020.9940860215053811186098340548-98340550, 98340596-98340600, 98340845, 98349657-98349658
484RANBP220.952041343669254649675109347230-109347253, 109347929-109347930, 109352698-109352705, 109357110-109357116, 109365409-109365458, 109367755-109367775, 109368046-109368080, 109368104-109368111, 109370347-109370348, 109370360, 109370386-109370401, 109371632-109371633, 109374869, 109374925-109374955, 109378557, 109378568-109378604, 109382635-109382641, 109383051-109383058, 109383260-109383301, 109383318, 109383354-109383360, 109383605-109383641, 109383768-109383814, 109384393-109384435, 109384609-109384634
485MERTK20.99433333333333173000112656325-112656341
486GLI220.943499264860322694761121708950, 121708965-121708968, 121708982-121708993, 121712984-121712988, 121728145-121728148, 121728151-121728162, 121745989-121745996, 121746079-121746085, 121746153-121746190, 121746221-121746239, 121746246, 121746250-121746252, 121746406-121746409, 121746497-121746527, 121746547-121746553, 121746561-121746564, 121746617-121746628, 121746639, 121746660, 121746675-121746681, 121746739-121746749, 121747005-121747028, 121747086, 121747093, 121747097, 121747170-121747209, 121747507, 121747656-121747663, 121747909
487BIN120.95903479236813731782127806116-127806122, 127807998-127808002, 127808730-127808739, 127808786-127808803, 127809858-127809866, 127815104-127815108, 127815160-127815162, 127816601, 127828191-127828205
488PROC20.97979797979798281386128180493, 128180496, 128180684-128180709
489CFC120.71428571428571192672131279079, 131279611, 131279620-131279628, 131279669-131279675, 131279681-131279682, 131279688-131279689, 131279702-131279703, 131280363-131280392, 131280404-131280406, 131280443, 131280446, 131280454, 131280467-131280477, 131280742-131280750, 131280759, 131280777-131280818, 131280835, 131280848, 131285302-131285336, 131285352-131285382, 131285425
490RAB3GAP120.9993211133740722946135893468, 135893472
491LCT20.9996542185338925784136558251-136558252
492MCM620.9987834549878332466136633829-136633831
493NEB20.998297787123263419974152432666-152432690, 152432786, 152432796-152432797, 152432832-152432836, 152432840
494SCN2A20.9996676636756426018166237674, 166237678
495HOXD1320.92538759689922771032176957619-176957620, 176957647-176957649, 176957652-176957693, 176957725-176957726, 176957736-176957737, 176957740-176957741, 176957745-176957753, 176957786-176957788, 176957810-176957819, 176957828, 176957874
496DFNB5920.997167138810231059179319069-179319071
497TTN20.9991521027850985100248179439344, 179510661-179510663, 179542497-179542564, 179650758-179650770
498CERKL20.9993746091307111599182468696
499CASP820.9962894248608561617202149664-202149669
500BMPR220.9996791786974713117203378542
501ABCA1220.99833076527992137788215854098-215854104, 215854152-215854156, 215854162
502PNKD20.99050086355786111158219204545-219204555
503WNT10A20.96012759170654501254219745745-219745785, 219757563-219757566, 219757569-219757572, 219757865
504DES20.96744515215853461413220283200-220283227, 220283627-220283628, 220283700-220283715
505OBSL120.953083816552452675691220416280-220416305, 220416464-220416475, 220416835-220416876, 220416889-220416919, 220417258-220417285, 220417299-220417304, 220417418-220417419, 220417698-220417718, 220435575, 220435589-220435606, 220435668-220435671, 220435694-220435704, 220435730-220435757, 220435782-220435788, 220435833-220435835, 220435838-220435841, 220435932-220435954
506COL4A320.9986036305605475013228145271-228145277
507CHRND20.97168597168597441554233390938-233390947, 233396093, 233396259-233396283, 233396293, 233396310-233396313, 233398642, 233398738, 233398741
508COL6A320.99569960142647419534238244864-238244866, 238245089-238245126
509AGXT20.643765903307894201179241808283-241808447, 241808595-241808624, 241808634-241808640, 241808649-241808719, 241808732-241808747, 241810062, 241810088-241810101, 241810105, 241810115-241810125, 241810766-241810853, 241810860-241810866, 241814556-241814561, 241814609, 241816982, 241817041
510D2HGDH20.57279693486596691566242674641, 242674644, 242674678-242674681, 242674708, 242674718-242674723, 242674754-242674764, 242674767-242674772, 242674803-242674807, 242674810-242674820, 242674920-242674931, 242680456-242680493, 242689579-242689610, 242689645-242689679, 242689695, 242689704-242689709, 242690661-242690707, 242690714-242690739, 242690748-242690794, 242695270, 242695274-242695299, 242695322-242695323, 242695329, 242695332-242695345, 242695355-242695429, 242707125-242707384
511C20orf54200.99290780141844101410744353-744360, 744377, 744387
512AVP200.642424242424241774953063276, 3063288-3063293, 3063324-3063326, 3063331-3063339, 3063341-3063342, 3063354, 3063367, 3063369-3063443, 3063628-3063656, 3063678-3063697, 3063759, 3063764-3063792
513PANK2200.965557501459435917133869993-3869999, 3870048-3870065, 3870124-3870125, 3870265-3870296
514JAG1200.9753896636587490365710653422-10653470, 10653508, 10653512-10653522, 10653564-10653576, 10653585-10653587, 10654150-10654156, 10654166, 10654171-10654175
515SNTA1200.73122529644269408151831998042-31998045, 31998088-31998117, 32000102-32000129, 32000163-32000188, 32000215-32000232, 32000381-32000421, 32000453-32000457, 32000461-32000477, 32000482, 32000509-32000511, 32000513-32000532, 32000567-32000573, 32031121, 32031153-32031184, 32031194-32031254, 32031294-32031301, 32031321-32031426
516SAMHD1200.998936735778842188135579867-35579868
517HNF4A200.9670175438596547142543052725-43052732, 43052758, 43052761-43052788, 43052832-43052839, 43052879-43052880
518ADA200.9761904761904826109243254281-43254282, 43254286-43254287, 43255139, 43255150-43255153, 43257754-43257770
519CTSA200.995323981295937149744520238-44520243, 44523766
520SALL4200.9803921568627562316250401011-50401017, 50406850, 50407281, 50407390, 50408211-50408213, 50408336-50408367, 50418821-50418825, 50418828-50418830, 50418835-50418837, 50418844-50418846, 50418876-50418878
521PCK1200.9935794542536112186956137764-56137775
522GNAS200.917344173441736173857415182-57415241, 57415540
523GNAS200.90976236351959281311457428482, 57428921, 57429072-57429084, 57429095, 57429136-57429140, 57429210-57429223, 57429399-57429404, 57429423, 57429479-57429493, 57429562-57429579, 57429594-57429612, 57429637-57429666, 57429678-57429696, 57429753, 57429759-57429788, 57429797-57429800, 57429803, 57429992-57430011, 57430047-57430085, 57430096-57430107, 57430143, 57430263-57430287, 57430372-57430375, 57430384
524EDN3200.99442119944212471757875869, 57876592-57876594
525COL9A3200.54598540145985933205561448417-61448494, 61448919-61448987, 61449881, 61449888-61449905, 61450590-61450645, 61451281-61451314, 61452533-61452566, 61452859-61452872, 61453109-61453143, 61453149-61453158, 61453463-61453510, 61453943-61453984, 61455802-61455853, 61456320-61456373, 61457169-61457177, 61457189-61457222, 61457556-61457598, 61457608-61457609, 61458151-61458172, 61458599-61458601, 61458604, 61459297-61459320, 61460137-61460157, 61460275-61460328, 61460807-61460814, 61460821-61460823, 61460980-61461018, 61461118-61461135, 61461155-61461171, 61461721-61461723, 61461726-61461745, 61461750, 61461869-61461925, 61464381-61464385, 61467297, 61467597, 61467645, 61468571
526CHRNA4200.0355626326963911817188461978090-61978215, 61981005-61981786, 61981806-61981861, 61981879-61982139, 61982149-61982154, 61982158, 61982162-61982175, 61982183-61982265, 61982275-61982379, 61987327-61987436, 61987723-61987767, 61990900-61991051, 61992442-61992517
527KCNQ2200.27949599083621887261962037997-62038071, 62038082-62038465, 62038475-62038502, 62038513-62038728, 62039766-62039767, 62039789-62039794, 62039810-62039835, 62039840, 62039871-62039889, 62044852-62044882, 62044890-62044893, 62044906-62044934, 62045441-62045453, 62045492-62045532, 62046256-62046257, 62046266-62046288, 62046314-62046345, 62046355-62046359, 62046382-62046411, 62046420, 62046437, 62046446, 62046450, 62050972-62050986, 62051016, 62051020-62051021, 62059720-62059728, 62059750-62059788, 62065178, 62065196-62065200, 62065210, 62069988, 62069997-62070002, 62070036-62070053, 62070951, 62070962-62070971, 62070974-62070984, 62071004-62071061, 62073765-62073813, 62073846-62073869, 62073884, 62076012-62076042, 62076049-62076187, 62076591-62076665, 62076675-62076717, 62078100-62078177, 62078189-62078190, 62103521-62103816
528SOX18200.18961038961039936115562679519-62679596, 62679611-62679621, 62679721-62679785, 62679792, 62679795, 62679820-62679847, 62679860-62679866, 62679905-62679910, 62679921-62680064, 62680079-62680315, 62680512-62680869
529IFNGR2210.9349112426035566101434775850-34775915
530CLDN14210.931944444444444972037833277, 37833294-37833304, 37833307, 37833435-37833436, 37833581-37833605, 37833697, 37833844, 37833962, 37833978-37833980, 37833984-37833986
531TMPRSS3210.9772893772893831136543795970-43795977, 43805518-43805533, 43805541-43805547
532CBS210.88345410628019193165644474024-44474028, 44474067, 44474071, 44476923-44476938, 44476942-44476948, 44476979-44476997, 44478953-44479001, 44479043-44479061, 44479337-44479385, 44484017-44484023, 44488695-44488707, 44492152, 44492160, 44492165-44492169
533CSTB210.959595959595961229745196091, 45196095-45196105
534AIRE210.0836385836385841501163845705890-45706016, 45706440-45706527, 45706547-45706560, 45706576-45706601, 45706861-45706883, 45706896-45707016, 45707400-45707474, 45708228-45708279, 45708289, 45708292, 45708299, 45708302-45708310, 45708325-45708327, 45708335-45708341, 45709540-45709544, 45709576-45709685, 45709871-45709951, 45710978-45711093, 45712187-45712284, 45712876-45713058, 45713672-45713793, 45714284-45714386, 45716266-45716328, 45717539-45717610
535ITGB2210.71688311688312654231046306735-46306817, 46308609-46308631, 46308642-46308643, 46308656-46308699, 46308716-46308719, 46308733, 46308742-46308753, 46308766-46308787, 46308804-46308810, 46309191-46309211, 46309222-46309228, 46309252, 46309264, 46309268-46309276, 46309286, 46309301-46309339, 46309357-46309359, 46309371-46309381, 46309401, 46309893-46309940, 46309949-46309951, 46309994-46310021, 46310044-46310050, 46310121-46310122, 46311724-46311745, 46311754-46311801, 46311806-46311813, 46311846-46311850, 46311883-46311911, 46313330-46313333, 46313337, 46313359-46313407, 46313448-46313451, 46313454-46313456, 46320337-46320369, 46320382-46320387, 46326860-46326866, 46326910-46326932, 46326956-46326977, 46330252, 46330275-46330276, 46330281-46330287
536COL18A1210.316619183285853598526546875445-46875447, 46875466-46875483, 46875503-46875521, 46875541-46875557, 46875586-46875602, 46875665-46875684, 46875733-46875747, 46875773-46875811, 46875814, 46875827, 46875831-46875836, 46875846-46875902, 46875910-46875922, 46875942-46875969, 46875976-46875994, 46875997-46875999, 46876004, 46876046-46876087, 46876104-46876119, 46876128-46876130, 46876155, 46876159-46876183, 46876192-46876196, 46876221, 46876224-46876236, 46876244-46876309, 46876349-46876364, 46876401-46876428, 46876442-46876627, 46876636, 46876645-46876717, 46876730-46876736, 46876747-46876795, 46888156-46888251, 46888260-46888266, 46888339-46888342, 46888345-46888353, 46888358-46888360, 46888378-46888393, 46888396, 46888508-46888540, 46888572-46888583, 46888601-46888603, 46888622-46888676, 46888697-46888700, 46893809-46893824, 46893851, 46895416-46895449, 46896265-46896271, 46896305, 46896315-46896345, 46896350-46896359, 46896367-46896368, 46896382-46896394, 46897791-46897798, 46897871, 46898242-46898254, 46899825-46899878, 46899984-46900008, 46900030-46900060, 46900381-46900403, 46900411-46900413, 46900619-46900641, 46900702-46900742, 46906775-46906906, 46907361-46907373, 46907382-46907399, 46907401-46907417, 46908332-46908358, 46909400-46909435, 46910189-46910260, 46910750-46910785, 46911139-46911228, 46912449-46912478, 46912601-46912627, 46913077-46913139, 46913415-46913489, 46914459-46914485, 46914776-46914829, 46915272-46915346, 46916414-46916482, 46916967-46917006, 46917513-46917575, 46923925-46923968, 46924330-46924466, 46925048-46925192, 46925272-46925345, 46925752-46925879, 46927475-46927507, 46929270-46929470, 46929498-46929515, 46929978-46929996, 46930005-46930006, 46930017-46930083, 46930085-46930087, 46930101-46930105, 46930108-46930122, 46930132-46930175, 46931025-46931123, 46931131-46931140, 46932112-46932312
537COL6A1210.552964042759961380308747401765-47401861, 47402548-47402677, 47404183-47404383, 47406440-47406574, 47406577, 47406580-47406586, 47406858-47406876, 47406895-47406967, 47406977-47406986, 47407069-47407076, 47407079, 47407413-47407433, 47407524-47407568, 47408998-47409009, 47409027, 47409033-47409051, 47409522-47409566, 47409666-47409667, 47410172-47410198, 47410292-47410336, 47410687-47410739, 47410893-47410904, 47410952-47410955, 47411924-47411925, 47412085-47412116, 47412277-47412280, 47414096-47414140, 47417335-47417351, 47417361-47417371, 47417376-47417397, 47417614-47417615, 47417631-47417659, 47417669-47417676, 47418047-47418085, 47418338, 47418837-47418846, 47418852, 47418869-47418873, 47419067-47419099, 47419128-47419132, 47419571-47419606, 47420245, 47421208-47421214, 47421911-47421917, 47421944, 47421947-47421948, 47421952-47421954, 47421959, 47422165-47422181, 47422441-47422442, 47422529-47422535, 47423312-47423315, 47423425-47423431, 47423507-47423538, 47423636, 47423650-47423666, 47423785
538COL6A2210.258823529411762268306047531394-47531412, 47531416-47531425, 47531435-47531505, 47531893-47531955, 47531972-47532037, 47532053-47532058, 47532099-47532125, 47532160, 47532163-47532188, 47532191-47532202, 47532207, 47532210-47532211, 47532259-47532262, 47532266, 47532277, 47532281, 47532288, 47532305, 47532310, 47532342-47532357, 47532379, 47532417-47532423, 47532440, 47532718-47532719, 47533922, 47533942-47533987, 47535923-47535960, 47536312-47536317, 47536565, 47536568-47536591, 47536684-47536728, 47537314-47537340, 47537348-47537367, 47537788-47537824, 47537847-47537850, 47538528-47538529, 47538535-47538541, 47538552-47538583, 47538944-47539033, 47539702-47539764, 47540429-47540491, 47540975-47541037, 47541470-47541532, 47542022-47542072, 47542410-47542422, 47542429-47542445, 47542789-47542851, 47544614, 47544801-47544834, 47545180-47545225, 47545379-47545412, 47545420-47545450, 47545469-47545488, 47545514-47545515, 47545699-47545810, 47545817-47545845, 47545860-47545861, 47545865-47545867, 47545870-47545891, 47545916-47545925, 47545929-47545930, 47545933, 47545939-47546006, 47546011, 47546041-47546145, 47546417-47546455, 47551868-47552262, 47552273-47552466
539COL6A2210.02923976608187133234247552183-47552262, 47552273-47552524
540FTCD210.0104551045510451609162647556901-47556943, 47556951-47556987, 47557153-47557248, 47558422-47558560, 47558794-47558837, 47565331-47565492, 47565732-47565861, 47566180-47566241, 47570033-47570164, 47570302-47570393, 47570404-47570439, 47571472-47571651, 47571806-47571894, 47572821-47572949, 47574063-47574246, 47575384-47575437
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562ALG12220.83299250170416245146750297888, 50298000-50298012, 50298017, 50301378, 50301476, 50301514, 50301569-50301586, 50303543-50303547, 50303574-50303592, 50303618, 50303625, 50303629, 50303653-50303659, 50303672-50303682, 50303687-50303690, 50303730, 50304082-50304092, 50304117-50304122, 50304162-50304169, 50304177, 50304181-50304183, 50307033-50307036, 50307126-50307137, 50307161-50307164, 50307252-50307256, 50307272-50307321, 50307355-50307409
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580AMT30.9909240924092411121249457729, 49457734-49457738, 49458962, 49459593, 49459850, 49459882-49459883
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585TKT30.9583333333333378187253263311, 53263317, 53263426, 53265441, 53269107-53269141, 53269163, 53289852-53289854, 53289868-53289871, 53289894, 53289919-53289948
586FLNB30.9927007299270157780957994435-57994476, 57994559-57994570, 58134035, 58134038-58134039
587PDHB30.999074074074071108058416594
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646NHP250.99783549783551462177580733
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660HLA-DQB160.888040712468198878632629224-32629234, 32632575-32632650, 32632818
661COL11A260.9961619650738820521133139499-33139505, 33140132-33140136, 33140139-33140144, 33140408, 33141496
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673MYO660.997667185069989385876589586-76589594
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677PEX760.998971193415641972137143827
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679PARK260.9971387696709641398161771188-161771191
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684HOXA170.9761904761904824100827135089-27135111, 27135314
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686GHRHR70.999213836477991127231008490
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691EGFR70.9936691439581623363355086971-55086979, 55086992-55087004, 55220301
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762CEL90.770145310435935222271135937419-135937425, 135937454-135937455, 135939854-135939855, 135939858, 135941982, 135941988-135941990, 135946397-135946403, 135946449-135946451, 135946456-135946475, 135946513-135946547, 135946570-135946577, 135946598-135947023, 135947065, 135947085-135947089, 135947134
763SURF190.8327796234773151903136218782, 136218793-136218800, 136220634-136220636, 136221722-136221746, 136221775, 136221795, 136221802-136221812, 136223124-136223127, 136223133-136223175, 136223276-136223329
764ADAMTS1390.6066760037348316854284136287647-136287650, 136287653, 136289464-136289469, 136289582, 136290697, 136291066-136291068, 136291164-136291167, 136291330-136291359, 136291462, 136293754-136293891, 136295059-136295221, 136297716-136297735, 136297789-136297813, 136298504, 136298523-136298578, 136298594-136298649, 136298784-136298787, 136298802-136298824, 136301949-136301969, 136301997, 136302010, 136302029-136302032, 136302058-136302069, 136302873-136302876, 136302914-136302962, 136302970-136303017, 136303405-136303435, 136305494-136305521, 136305533-136305563, 136305583, 136305587, 136305627-136305646, 136307532-136307533, 136307562, 136307572-136307596, 136307612, 136307632, 136307635-136307650, 136307655, 136307738, 136307747-136307760, 136307764-136307766, 136307769-136307770, 136307809-136307852, 136308497, 136308552, 136308620-136308682, 136310024-136310063, 136310107-136310116, 136310133, 136310143-136310173, 136310820-136310842, 136310849-136310856, 136310873-136310909, 136310920-136310940, 136313720-136313721, 136313730-136313747, 136313759, 136313789-136313819, 136313829-136313849, 136314919, 136315043-136315048, 136319563, 136319572-136319604, 136319686, 136319689, 136319729-136319741, 136320470-136320472, 136320475-136320486, 136320494-136320503, 136320520, 136320526, 136320532-136320542, 136320547-136320553, 136320593-136320621, 136320656, 136320672-136320673, 136320725, 136321195-136321223, 136321234-136321260, 136321305-136321337, 136321715-136321733, 136321755-136321810, 136323054-136323093, 136323111-136323124, 136323165, 136323168-136323175, 136323199-136323202, 136324147-136324192, 136324216-136324279, 136324302
765DBH90.593851132686087531854136501524, 136501541-136501543, 136501554-136501592, 136501595, 136501629-136501633, 136501678, 136501703-136501740, 136501752-136501753, 136501758-136501760, 136501791, 136501796-136501797, 136501806, 136504968-136504975, 136504988, 136505000-136505038, 136505109-136505114, 136507369, 136507379, 136507424, 136507542, 136507547, 136508591-136508626, 136508664-136508672, 136508687, 136513029-136513073, 136513102-136513127, 136516756-136516891, 136517368-136517399, 136518062-136518076, 136518088-136518089, 136521645-136521772, 136522192-136522204, 136522222-136522254, 136522266-136522350, 136523443, 136523514-136523548
766SARDH90.675734494015238942757136529011-136529023, 136529045-136529081, 136529092, 136529108-136529116, 136529127-136529136, 136531857-136531992, 136535706-136535874, 136536657-136536819, 136550388-136550408, 136555502-136555521, 136555563-136555569, 136555597-136555621, 136559380-136559397, 136559433-136559449, 136559460, 136559471-136559493, 136568038-136568061, 136570077-136570096, 136573419, 136573463-136573484, 136573511, 136577765-136577794, 136577828-136577831, 136578204-136578214, 136578225-136578246, 136582476, 136582486, 136582572-136582577, 136584068, 136584086-136584130, 136584156-136584157, 136599067-136599070, 136599073, 136599259-136599279, 136599289-136599295
767COL5A190.6940366141018716885517137534034-137534142, 137582758-137582781, 137582791-137582925, 137591755-137591859, 137591872, 137591882-137591968, 137593017-137593179, 137620560-137620570, 137620630-137620634, 137620646, 137622193-137622227, 137623342, 137623354, 137623408, 137623445, 137623463-137623481, 137630324-137630325, 137630337-137630361, 137630598-137630599, 137630609-137630654, 137642388-137642402, 137642409-137642425, 137642428-137642431, 137642442-137642462, 137642638, 137642657-137642728, 137644435, 137644446-137644453, 137644459-137644491, 137645696-137645707, 137645716, 137645744-137645747, 137646119-137646138, 137646144-137646172, 137648611-137648646, 137650097-137650132, 137653771-137653782, 137653794-137653824, 137655539-137655583, 137657527, 137657556-137657559, 137657573, 137658321, 137658857, 137658875, 137659161, 137659178-137659195, 137660268-137660309, 137664636-137664637, 137664662-137664665, 137664669-137664671, 137664680, 137666705-137666708, 137666713, 137666747-137666758, 137671948-137671992, 137674513-137674523, 137674534-137674540, 137676836-137676885, 137676894, 137676898-137676933, 137677841-137677882, 137686954, 137688243-137688244, 137688252, 137688255-137688258, 137690297-137690307, 137693800-137693809, 137693823, 137693826, 137693839, 137693850, 137694805, 137694808-137694830, 137696844-137696867, 137696886, 137696893-137696899, 137696907, 137698063, 137698129, 137698139-137698142, 137701062-137701063, 137703422, 137703426, 137704540-137704550, 137705831, 137706676-137706678, 137706740-137706741, 137706748-137706750, 137707781-137707808, 137710502-137710510, 137710563-137710609, 137716683-137716689, 137726889-137726892, 137727039-137727050
768LHX390.504549214226635991209139089177-139089225, 139089254, 139089271-139089319, 139089325-139089331, 139089340-139089372, 139089434-139089488, 139089543-139089571, 139090498-139090544, 139090551-139090575, 139090607-139090613, 139090657, 139090660, 139090769-139090807, 139090817-139090826, 139090836-139090905, 139091530-139091531, 139091534-139091555, 139091583, 139091625-139091638, 139091663-139091701, 139091724-139091726, 139092441, 139092469-139092482, 139092573-139092574, 139094802, 139094809-139094885
769INPP5E90.3948320413436711711935139324815-139324823, 139325454-139325463, 139325498-139325510, 139325546-139325550, 139325554-139325561, 139326283-139326318, 139326325-139326326, 139326329, 139326338-139326341, 139326348-139326356, 139326364, 139326367-139326398, 139326408-139326417, 139326429, 139326975-139326980, 139326986-139326991, 139327003, 139327008-139327038, 139327487-139327488, 139327493-139327527, 139327607-139327611, 139327624, 139327627-139327642, 139327652-139327654, 139327666-139327687, 139327707-139327731, 139328489-139328514, 139328526-139328556, 139328570-139328579, 139328582, 139329193-139329278, 139329302-139329315, 139333060-139333080, 139333103-139333355, 139333367-139333389, 139333404-139333408, 139333414-139333442, 139333449-139333523, 139333539-139333652, 139333670-139333819, 139333833-139333871
770NOTCH190.04329681794470573367668139390523-139391060, 139391069-139391657, 139391672-139391704, 139391715-139392010, 139393351-139393375, 139393396-139393401, 139393415-139393428, 139393438, 139393565-139393661, 139393697-139393711, 139395004-139395299, 139396200-139396365, 139396467-139396540, 139396724-139396940, 139397634-139397737, 139397753-139397782, 139399125-139399556, 139399762-139399893, 139399901-139399993, 139399996-139399999, 139400008, 139400015-139400048, 139400058-139400110, 139400122-139400333, 139400979-139401037, 139401047, 139401062-139401091, 139401168-139401251, 139401268-139401339, 139401347-139401425, 139401760-139401783, 139401798-139401889, 139402407-139402591, 139402684-139402837, 139403322-139403523, 139404185-139404228, 139404232, 139404246-139404290, 139404301, 139404308-139404326, 139404329-139404331, 139404352-139404366, 139404373-139404411, 139405105-139405229, 139405238, 139405246-139405257, 139405604-139405723, 139407473-139407586, 139407844-139407989, 139408962-139409154, 139409742-139409852, 139409935-139410168, 139410433-139410546, 139411724-139411837, 139412204-139412389, 139412589-139412744, 139413043-139413276, 139413895-139414017, 139417302-139417640, 139418169-139418431, 139438476-139438554, 139440178-139440238
771AGPAT290.066905615292712781837139568204-139568379, 139569187-139569238, 139569256-139569259, 139571037-139571132, 139571413-139571427, 139571444-139571588, 139571875-139571911, 139571935-139572008, 139581628-139581809
772SLC34A390.2111111111111114201800140126155-140126177, 140126194-140126238, 140126530, 140126559-140126565, 140127027-140127039, 140127044-140127046, 140127048, 140127051, 140127054-140127057, 140127074-140127087, 140127095-140127155, 140127236-140127266, 140127282-140127302, 140127312-140127371, 140127467, 140127494-140127512, 140127541-140127545, 140127661-140127679, 140127686-140127769, 140127786, 140127789-140127791, 140127794-140127804, 140127827-140127844, 140127847-140127856, 140128085-140128101, 140128115-140128174, 140128315-140128393, 140128561-140128728, 140128868-140128924, 140128936-140128984, 140129059-140129109, 140129120-140129163, 140129174-140129183, 140130404-140130620, 140130642-140130804, 140130820-140130868
773EHMT190.800615858352587773897140513481-140513501, 140605419-140605482, 140611078-140611634, 140622846, 140622910-140622959, 140638507, 140669655-140669661, 140671253-140671279, 140672497-140672501, 140708938-140708945, 140728820-140728821, 140728939, 140728963-140728976, 140729306, 140729309, 140729349-140729365
774SHOXX0.47212741751991464879591633-591742, 591761-591909, 595353-595369, 595376-595561, 601739, 601775
775CSF2RAX0.4168582375478976113051401597-1401654, 1401666, 1404671-1404677, 1404701-1404713, 1404721-1404757, 1404770-1404805, 1407436, 1407506, 1407533-1407535, 1407676, 1407679-1407689, 1407701-1407702, 1407744, 1407758, 1407761-1407762, 1409230-1409256, 1409298-1409344, 1409361, 1413221-1413236, 1413258-1413354, 1414320-1414323, 1414346-1414349, 1419384-1419519, 1422154-1422231, 1422237-1422255, 1422816-1422912, 1424340, 1424352-1424409, 1424420
776SMSX0.982742960944619110121958951-21958969
777ARXX0.9721728833629447168925031567-25031570, 25031654-25031674, 25031777-25031779, 25031895-25031913
778RPGRX0.79271465741544717345938144822-38144832, 38144943, 38144951-38144952, 38145025-38145029, 38145119-38145122, 38145181-38145201, 38145210-38145217, 38145223-38145242, 38145278-38145739, 38145757-38145803, 38145808, 38145834-38145864, 38145894-38145895, 38145931-38145956, 38145971-38145988, 38146013-38146023, 38146047-38146057, 38146102, 38146107, 38146117, 38146122-38146129, 38146132, 38146312-38146329, 38146359-38146362, 38147125-38147126
779NYXX0.9744121715076137144641332810-41332819, 41333143, 41333146-41333148, 41333514-41333515, 41333950, 41333953-41333972
780FTSJ1X0.9989898989899199048341165
781PORCNX0.9819624819624825138648371017-48371041
782CACNA1FX0.998820357263237593449063070-49063076
783ARX0.9916757148027523276366765149-66765151, 66765155-66765167, 66765170, 66766303-66766307, 66766359
784MED12X0.9776553412917146653470360632-70360702, 70361080-70361154
785TAF1X0.9975360788454814568270586192-70586194, 70586214, 70586255-70586257, 70586293-70586297, 70586308, 70586311
786PCDH19X0.998790078644894330699663560-99663562, 99663573
787XIAPX0.9953145917001371494123019732-123019738
788ZIC3X0.99002849002849141404136651082-136651085, 136651125-136651133, 136651155
789SOX3X0.97017151379567401341139586046-139586052, 139586137-139586146, 139586177-139586186, 139586481-139586493
790FAM58AX0.9768707482993217735152858098-152858100, 152864470, 152864475-152864480, 152864483-152864489
791SLC6A8X0.800314465408813811908152954030-152954133, 152954139-152954239, 152954280-152954291, 152955939-152955961, 152958917-152958946, 152959470-152959472, 152959644-152959660, 152959687-152959711, 152959830, 152959835-152959836, 152959839, 152959842, 152959868-152959874, 152960199-152960204, 152960288-152960299, 152960529-152960557, 152960618-152960624
792ABCD1X0.847631814119753412238152990735-152990772, 152990780-152990805, 152990831-152990844, 152990890-152990919, 152990941, 152990947-152990948, 152990956, 152990961-152990972, 152990996-152991015, 152991027-152991049, 152991138-152991176, 152991244-152991248, 152991329-152991336, 152991382, 152991428-152991482, 152991602-152991608, 153001831-153001833, 153001861-153001863, 153002652-153002663, 153005652-153005654, 153008471, 153008474-153008476, 153008675, 153009100-153009105, 153009129-153009155
793L1CAMX0.99364069952305243774153132811-153132812, 153133314-153133323, 153135639, 153135883-153135889, 153136580, 153136585-153136587
794MECP2X0.9873079492318191497153363066-153363068, 153363093-153363108
795OPN1MWX0.99086757990868101095153453340, 153455595-153455601, 153458983-153458984
796OPN1MWX0.9917808219178191095153490458, 153492713-153492719, 153496101
797FLNAX0.8305639476334313467944153577361, 153577364-153577389, 153577394-153577396, 153577401, 153577759-153577763, 153577794-153577802, 153577827-153577843, 153577878-153577885, 153577909-153577929, 153578072-153578075, 153578166-153578174, 153578411-153578417, 153578463-153578472, 153578555-153578570, 153579290-153579301, 153580047-153580050, 153580337-153580338, 153580345-153580375, 153580759-153580763, 153580941, 153580946-153580947, 153581151, 153581200-153581202, 153581381-153581385, 153581517-153581523, 153581533-153581572, 153581688-153581691, 153581700, 153581706, 153581711, 153581714-153581743, 153581780-153581788, 153581947-153581965, 153582080-153582083, 153582285, 153582343-153582348, 153582366, 153582370-153582373, 153582563-153582568, 153582573, 153582576-153582577, 153582602-153582610, 153582636-153582659, 153582805-153582809, 153582984, 153583217-153583233, 153583317-153583345, 153583419-153583420, 153585815-153585825, 153585894-153585902, 153585917, 153585921, 153585928-153585932, 153585987-153585989, 153586567-153586590, 153586697-153586702, 153586706-153586723, 153586823-153586846, 153586923-153586936, 153587423-153587425, 153587639-153587662, 153587696-153587698, 153587723-153587761, 153587852-153587854, 153587912-153587938, 153587986-153587990, 153588100-153588114, 153588149-153588224, 153588381-153588432, 153588476-153588480, 153588518-153588524, 153588615-153588646, 153588763, 153588802-153588829, 153588857-153588873, 153588935-153588954, 153589721, 153589731, 153589739-153589740, 153589748-153589774, 153589784-153589787, 153589857-153589864, 153589895-153589909, 153590052-153590060, 153590659-153590664, 153590815-153590821, 153590923-153590932, 153592414-153592430, 153592483-153592500, 153592530-153592533, 153592924-153592929, 153592972-153592979, 153593015-153593022, 153593061-153593062, 153593231-153593233, 153593625-153593627, 153593822-153593854, 153594400-153594408, 153594414, 153594498-153594517, 153594691-153594697, 153594985-153594988, 153594991, 153595100-153595119, 153595765-153595770, 153596041, 153596044-153596045, 153596077-153596082, 153596212-153596235, 153596293, 153596352, 153599267-153599274, 153599372-153599443, 153599454-153599485, 153599541-153599557, 153599560, 153599593-153599613
798EMDX0.9137254901960866765153607872-153607875, 153607900-153607905, 153608071-153608100, 153608113, 153608123-153608128, 153608703-153608709, 153609142, 153609145, 153609366-153609368, 153609371, 153609415-153609420
799TAZX0.953105196451237789153640423-153640428, 153640438-153640452, 153640536-153640551
800G6PDX0.95543345543346731638153760233-153760234, 153760254, 153760289-153760305, 153762655-153762656, 153762660-153762663, 153763486-153763496, 153764171-153764191, 153775011-153775013, 153775021-153775027, 153775081-153775085
801IKBKGX0.98497267759563221464153780225-153780227, 153780282-153780291, 153788706-153788714
VariantPhase/
Zygosity
Allele freqImpactEvaluationSummary / Info
4FUT2-W154*homozygous0.491Recessive
protective
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
4FUT2-G258Shomozygous0.509Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.954 (probably damaging)
3COL4A1-Q1334Hhomozygous0.325Dominant
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.16 (benign), Testable gene in GeneTests with associated GeneReview
3COL4A1-T555Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2.5TG-S734Ahomozygous0.592Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2.5TG-Q870Hhet unknown0.003Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests
2.5TG-M1028Vhomozygous0.591Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
2.5TG-D1312Ghomozygous0.456Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2.5TG-D1838Nhomozygous0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
2.5TG-R1999Whomozygous0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
2.5TG-W2501Rhet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
2.5TG-R2530Qhet unknown0.572Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
2TP53-P72Rhomozygous0.628Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.127 (benign), Testable gene in GeneTests with associated GeneReview
2APOB-S4338Nhomozygous0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-R4270Thet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-I2313Vhet unknown0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-Y1422Chomozygous1.000Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2APOB-T98Ihet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-V474Ihomozygous0.817Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2PCSK9-G670Ehomozygous0.888Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
2KCNJ11-V337Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2KCNJ11-K23Ehomozygous0.738Unknown
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
2TAS2R38-I296Vhomozygous0.463Unknown
benign
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.984 (probably damaging)
2TAS2R38-A49Phomozygous0.431Unknown
benign
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
2HABP2-G534Ehet unknown0.028Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
2KEL-R281Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
2KEL-T193Mhet unknown0.032Dominant
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
1.5PRNP-M129Vhet unknown0.340Complex/Other
protective
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.628 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1.5AKAP10-I646Vhomozygous0.452Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5AKAP10-R249Hhomozygous0.446Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1.5OPTN-M98Khet unknown0.061Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests
1.5OPTN-K322Ehomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1.5APOA5-S19Whet unknown0.065Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.778 (possibly damaging)
1.5HNMT-T105Ihet unknown0.077Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.821 (possibly damaging)
1ARMS2-A69Shet unknown0.207Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1NR_027052-R29HhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027052-T53ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1GPHB5-F53Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1C14orf104-D768GhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1C14orf104-E62DhomozygousUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TREX1-A145Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
1TREX1-G151*het unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Nonsense mutation, Testable gene in GeneTests with associated GeneReview
1ZNF167-N494ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SYNE2-M1969Thet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging), Testable gene in GeneTests
1SYNE2-A2284Vhet unknown0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.289 (possibly damaging), Testable gene in GeneTests
1SYNE2-S2359Nhet unknown0.769Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests
1SYNE2-A2395Thet unknown0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1SYNE2-S2802Ghomozygous0.914Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
1SYNE2-I2942Vhet unknown0.723Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1SYNE2-N3130Shet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
1SYNE2-D3253Hhet unknown0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging), Testable gene in GeneTests
1SYNE2-H3309Rhet unknown0.742Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1SYNE2-N3982Hhet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.846 (possibly damaging), Testable gene in GeneTests
1SYNE2-P4912Ahet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
1SYNE2-L5186Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1C3-S1619Rhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.995 (probably damaging), Testable gene in GeneTests with associated GeneReview
1C14orf184-E123ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-T82ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1AX746903-Q107RRhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1AX746903-Q107RRhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1NR_027706-G126ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1KCP-K395Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KCP-H313Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
1KCP-H313Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
1KCP-A16ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1INSR-A2GhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1KRTAP7-1-I61Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-S51Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1KRTAP7-1-Y17ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NOD2-V955Ihomozygous0.068Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
1B3GNT6-L316ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1B3GNT6-L335ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CCDC135-D51Nhomozygous0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.927 (probably damaging)
1VDR-M1Thomozygous0.676Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1SEBOX-W10ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF204P-E93Qhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1ZNF204P-K6ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CNGA1-S3FhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1PIK3R6-L609ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1TMPO-Q599Ehet unknown0.071Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.878 (probably damaging), Testable gene in GeneTests with associated GeneReview
1KRT4-G160GAGGFGAGFGTGGFGhomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FAM58A-G4ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1HLA-DQA1-V17Mhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-D25Ghet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Y48Fhet unknown0.141Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-Q57Ehet unknown0.265Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-R64Khet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-QS152HAhet unknown0.116Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-A222Thet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1HLA-DQA1-M230Vhomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1TYR-S192Yhet unknown0.271Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.919 (probably damaging), Testable gene in GeneTests with associated GeneReview
1TYR-R402Qhet unknown0.205Complex/Other
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1KIAA1407-R374Whomozygous0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
1TRIM64-I58ThomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-V68LhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-R162ShomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1TRIM64-V238MhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-E242VhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q358RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1TRIM64-Q405RhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
1MTMR2-E502Qhet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MTMR2-K3Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1KRT10-H487Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1KRT10-H487Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
1KRT10-I101SFGGGSFGGGShomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1FANCE-R89Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests with associated GeneReview
1MTHFR-R594Qhet unknown0.040Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests
1MTHFR-E429Ahet unknown0.255Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.099 (benign), Testable gene in GeneTests
1MTHFR-A222Vhet unknown0.272Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.858 (probably damaging), Testable gene in GeneTests
1TCN2-I23Vhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
1TCN2-R259Phomozygous0.636Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1TCN2-S348Fhet unknown0.127Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1TCN2-L376Shet unknown0.035Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
1TCEAL6-Q175Shifthomozygous0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1PADI6-V343Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1DGKK-D1111Nhomozygous0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1DGKK-L1014ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ATP7A-V767Lhomozygous0.254Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ATP7A-E1350Khomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ZNF761-L47ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1ZNF761-I122Shet unknown0.686Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1ZNF761-V168Ihomozygous0.770Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1RNASEL-D541Ehomozygous0.475Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1RNASEL-R462Qhet unknown0.278Complex/Other
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.964 (probably damaging), Testable gene in GeneTests
1F5-M1764Vhet unknown0.291Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K925Ehet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-H865Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-K858Rhet unknown0.244Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1F5-Q534Rhomozygous0.978Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-M523Thet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-L425Shet unknown0.863Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-G299Rhet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1SP110-W112Rhet unknown0.917Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1BC112980-K147ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1SRPX-P225Shomozygous0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.903 (probably damaging)
1CYP1B1-N453Shomozygous0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.837 (possibly damaging), Testable gene in GeneTests with associated GeneReview
1CYP1B1-V432Lhomozygous0.445Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CYP1B1-A119Shet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1CNKSR1-P284Shifthomozygous0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CNKSR1-R615Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
1DBH-A318Shomozygous0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
1HSPG2-V3640Ihomozygous0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1HSPG2-N765Shomozygous0.933Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1HSPG2-M638Vhomozygous0.974Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
1HRNR-R664Qhomozygous0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-G427Dhomozygous0.480Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-Q376Rhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-H273Qhomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
1HRNR-M1ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1CXorf59-R424ShifthomozygousUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
1HADHB-T2TThomozygous0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
1OPHN1-V39Ihomozygous0.057Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests
1FRMD7-R468Hhomozygous0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1MFN2-G298Rhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
1ANO7-D70Nhomozygous0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
1PLEKHA2-P389Shifthomozygous0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1VSIG10L-Q860ShifthomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
1NEFL-S472ShifthomozygousUnknown
benign
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview
0.875MTRR-I49Mhet unknown0.451Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.875MTRR-S202Lhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.75ADD1-G460Whet unknown0.157Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.75ADD1-S617Chet unknown0.181Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-G1166Shet unknown0.734Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-Q979Rhomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-K575Ehomozygous0.986Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75CILP-I395Thet unknown0.632Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-R61Hhet unknown0.283Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75BANK1-K341Nhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.75BANK1-C650Rhet unknown0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.75AMPD1-P48Lhet unknown0.094Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.75AMPD1-Q12*het unknown0.093Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.75CST3-A25Thet unknown0.171Unknown
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-P40Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.968 (probably damaging)
0.5MAP2K3-R55Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MAP2K3-S68Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.029 (benign)
0.5MAP2K3-R94Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5MAP2K3-R96Whet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.5MAP2K3-Q102*het unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5MAP2K3-H203Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5MAP2K3-K205Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5MAP2K3-L215Whet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5MAP2K3-R293Hhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.338 (possibly damaging)
0.5MAP2K3-V339Mhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.815 (possibly damaging)
0.5HEXA-I436Vhomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5BBS4-I354Thomozygous0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R392Chet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S524SPhet unknown0.578Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-V671Ghomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-G1414Ahet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I1875Vhet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-I2070Thet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-S2111Rhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2284Phet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R2826Shet unknown0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-N2856Shet unknown0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALMS1-R4029Khet unknown0.540Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYH13-D1614Hhet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.899 (probably damaging)
0.5RAI1-P165Thet unknown0.339Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5SALL1-V1275Ihomozygous0.988Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNJ12-R118Hhet unknown0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KCNJ12-V297Ihet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.427 (possibly damaging)
0.5KCNJ12-M302Ihet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging)
0.5KCNJ12-E334Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KCNJ12-E378Khet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.314 (possibly damaging)
0.5RGPD4-Q1169Rhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5RGPD4-C1252Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TTL-A133Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LCT-N1639Shet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LCT-I362Vhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PALB2-P864Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PALB2-V78Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CETP-V422Ihomozygous0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CD2BP2-T88Shet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5UNC45B-V60Ihet unknown0.029Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5UNC45B-I852Nhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.992 (probably damaging)
0.5FANCI-A86Vhomozygous0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FANCI-C742Shomozygous0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ERCC4-R415Qhet unknown0.055Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5RPGRIP1L-D1264Nhet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RPGRIP1L-G1025Shet unknown0.112Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC7A6OS-Y220Chet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5SLC7A6OS-G45Dhomozygous0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK3-Q602Rhet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.866 (probably damaging)
0.5ALPK3-P1299Lhomozygous0.789Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIPL1-D90Hhomozygous0.165Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.029 (benign), Testable gene in GeneTests with associated GeneReview
0.5WHAMM-R686Hhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5WHAMM-H736Phet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.952 (probably damaging)
0.5NEB-I6534Vhomozygous0.422Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-A6277Phomozygous0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-T4980Ihet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-R4389Thomozygous0.648Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-D3655Ghet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-W3348Chomozygous0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K2613Nhomozygous0.351Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-V1491Mhomozygous0.660Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-Y1301Hhomozygous0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NEB-K1027Nhomozygous0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR_027336-V73Fhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5NR_027336-W23*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5FUK-F826Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FUK-S948Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FUK-H961Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5CYBA-Y72Hhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PNPO-R116Qhet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests
0.5PIGW-H235Qhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5FBN3-E2610Dhet unknown0.644Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-G2139Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBN3-P1958Hhomozygous0.337Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-N1869Khomozygous0.103Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FBN3-V1326Ihomozygous0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FBN3-R1083Whet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5FBN3-D662Nhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF480-C3Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ADAMTS10-H1101Qhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ZNF880-N106Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5ZNF880-N140NNhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5ZNF880-R198Shet unknown0.358Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-N202Hhet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF880-K471Rhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LMAN1-M410Lhomozygous0.102Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.5MYO5B-L1055LLhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MYO5B-T126Ahomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5LILRB3-R465Lhet unknown0.045Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5LILRB3-N290Hhet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LILRB3-N290Hhet unknown0.536Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5LILRB3-R175Ghomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ATP8B1-A1152Thomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALPK2-I2157Vhomozygous0.832Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-R1884Chet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.699 (possibly damaging)
0.5ALPK2-H1767Yhet unknown0.113Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5ALPK2-Q1579Rhet unknown0.099Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.183 (benign)
0.5ALPK2-F1389Delhet unknown0.094Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-H1174Phet unknown0.683Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5ALPK2-L1057Vhet unknown0.684Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.293 (possibly damaging)
0.5ALPK2-T891Ihomozygous0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK2-K2Thet unknown0.840Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF317-Q19Hhomozygous0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ZNF317-Q19Hhomozygous0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5TSPAN16-S233Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5TSPAN16-S233Chet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.617 (possibly damaging)
0.5FCGBP-A5017Vhet unknown0.207Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5FCGBP-D4906Hhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.932 (probably damaging)
0.5FCGBP-R4855Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FCGBP-G4465Shet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.949 (probably damaging)
0.5FCGBP-S4284Ahomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.02 (benign)
0.5FCGBP-N2089Dhet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FCGBP-S1961Phomozygous0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FCGBP-T1524Nhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.244 (possibly damaging)
0.5PRX-G1132Rhomozygous0.955Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-I921Mhet unknown0.364Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRX-V882Ahet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.014 (benign), Testable gene in GeneTests with associated GeneReview
0.5ZNF224-M118Vhomozygous0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF224-H162Lhomozygous0.879Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.262 (possibly damaging)
0.5ZNF224-K640Ehomozygous0.713Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EID2-E60Ahet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EID2-A6Thet unknown0.160Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-E346Ahet unknown0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-N192Khet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-V101Lhomozygous0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FPR1-I11Thomozygous0.773Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ZNF44-T268Ihet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.984 (probably damaging)
0.5ZNF44-R82Phet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.083 (benign)
0.5GCDH-A316Thet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC7A9-L223Mhomozygous0.327Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5SLC7A9-V142Ahomozygous0.355Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RYR1-G2060Chet unknown0.051Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.345 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5ASXL3-N954Shomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.5ASXL3-V1652Mhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ASXL3-M1708Vhomozygous0.586Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DSC1-M659Thet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5EPN3-R170Hhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.933 (probably damaging)
0.5EPN3-P544Thet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCC3-R1297Hhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5CEBPZ-V102Ihomozygous0.881Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CEBPZ-P15Shet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5KLK13-H109Yhet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.953 (probably damaging)
0.5NPEPPS-M241Thet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5NPEPPS-G322Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5NPEPPS-T475Ahet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5ANKRD53-R349Lhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.047 (benign)
0.5ANKRD53-M500Thet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SLC3A1-M618Ihomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5KRT39-R456Qhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.543 (possibly damaging)
0.5KRT39-L383Mhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5KRT39-T341Mhet unknown0.133Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.158 (benign)
0.5ABCG8-Y54Chet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests
0.5ABCG8-V632Ahomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALK-D1529Ehet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALK-I1461Vhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OTOF-R82Chomozygous0.365Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5ANKRD12-K906Rhomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.956 (probably damaging)
0.5ANKRD12-L998Shet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LAMA3-S2834Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DSC3-A28Dhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.067 (benign), Testable gene in GeneTests with associated GeneReview
0.5LAMA1-L2144Vhet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5LAMA1-K2002Ehomozygous0.657Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-I1659Vhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LAMA1-S1577Ahet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.397 (possibly damaging)
0.5LAMA1-M1340Vhet unknown0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.942 (probably damaging)
0.5LAMA1-N674Thet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.167 (benign)
0.5GALR2-W249Lhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5AP1S2-T35Ahet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AP1S2-R29Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SCN4A-S524Ghomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAI2-A558Thomozygous0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TPO-A373Shomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5TPO-S398Thomozygous0.785Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.988 (probably damaging), Testable gene in GeneTests
0.5TEP1-N307Khomozygous0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TEP1-S116Phomozygous0.385Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NR2E3-T318Shifthomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.5HSPA14-T104Nhet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5CUBN-L2879Ihet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-S2717Whomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-C2162Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-P1559Shomozygous0.743Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CUBN-F253Shomozygous0.703Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PTCHD3-*768Qhet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-I584Mhet unknown0.960Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-M521Thet unknown0.631Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTCHD3-D473Ghet unknown0.630Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.849 (possibly damaging)
0.5PTCHD3-C407Ghet unknown0.419Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5PTCHD3-S309Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5NRP1-F561Lhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5NRP1-V179Ahomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ADARB2-A626Thet unknown0.559Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5ADARB2-A44Thet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5OR2T11-Q309Rhomozygous0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5OR2T11-M203Rhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5OR2T11-C119Rhomozygous0.901Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5LBR-S154Nhomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OBSCN-A908Thomozygous0.372Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5OBSCN-H1158Lhet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.992 (probably damaging)
0.5OBSCN-G4039Rhet unknown0.363Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.932 (probably damaging)
0.5OBSCN-C4450Rhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.907 (probably damaging)
0.5OBSCN-H4489Qhet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.583 (possibly damaging)
0.5OBSCN-R4534Hhet unknown0.256Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.515 (possibly damaging)
0.5OBSCN-S4642Chomozygous0.747Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.058 (benign)
0.5OBSCN-G4666Shet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5OBSCN-D4962Ghomozygous0.740Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.467 (possibly damaging)
0.5PCNXL2-H1176Yhet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.955 (probably damaging)
0.5EDARADD-M9Ihomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CHAT-A120Thet unknown0.184Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.013 (benign), Testable gene in GeneTests with associated GeneReview
0.5CHAT-V461Mhomozygous0.961Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-S494Nhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-N1349Dhomozygous0.813Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-A1572Thomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-T1996Shet unknown0.414Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-E2041Khet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-V2280Ihet unknown0.033Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-R2355Qhet unknown0.255Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDH23-P2377Lhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MKI67-K3217Ehet unknown0.504Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.017 (benign)
0.5MKI67-P2608Lhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.995 (probably damaging)
0.5MKI67-N2363Shet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-G1226Vhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5MKI67-K1144Ehet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.129 (benign)
0.5MKI67-A872Vhet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-W238Rhet unknown0.275Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MKI67-R123Hhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5SMPD1-R3Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SMPD1-G508Rhomozygous0.200Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5INSC-D333Nhet unknown0.060Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.985 (probably damaging)
0.5ABCC8-A1369Shomozygous0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PRLHR-P305Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.725 (possibly damaging)
0.5PRLHR-I283Vhomozygous0.979Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5COL17A1-D1370Ghet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-M703Vhomozygous0.715Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL17A1-T210Mhomozygous0.580Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PDE6C-S270Thomozygous0.391Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PLCE1-R1575Phomozygous0.476Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-T1777Ihomozygous0.321Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PLCE1-H1927Rhomozygous0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5CYP2C9-I359Lhet unknown0.049Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.048 (benign)
0.5SCD-M224Lhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCC2-Y39Fhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5USH2A-I2106Thomozygous0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5USH2A-R1486Khet unknown0.607Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.063 (benign), Testable gene in GeneTests with associated GeneReview
0.5USH2A-A125Thomozygous0.719Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LAX1-P396Shet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5DPYD-R29Chet unknown0.714Complex/Other
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AGL-P1067Shet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.984 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DBT-S384Ghomozygous0.858Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-S1547Phomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-P1335Lhet unknown0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A1-K276Nhet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GBP2-S281Phet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5POMGNT1-M623Vhomozygous0.940Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CROCC-R7Ghomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CROCC-R623Phet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5CROCC-A631Vhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.092 (benign)
0.5CROCC-R841Whet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CROCC-T1072Mhet unknown0.059Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.994 (probably damaging)
0.5RNF186-P208Thet unknown0.021Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.852 (probably damaging)
0.5RNF186-A23Thet unknown0.232Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.385 (possibly damaging)
0.5ALPL-V522Ahet unknown0.075Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL9A2-V581Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.037 (benign), Testable gene in GeneTests with associated GeneReview
0.5COL9A2-Q326Rhet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-C108Yhomozygous0.788Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SEPN1-N467Khomozygous0.629Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KIAA1324-H55Yhet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KIAA1324-I86Vhomozygous0.995Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1324-T623Phomozygous0.634Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KIAA1324-L1009Phomozygous0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GNAT2-V124Mhet unknown0.004Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.016 (benign), Testable gene in GeneTests with associated GeneReview
0.5LAMC2-S733Thet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HMCN1-I2418Thomozygous0.525Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.468 (possibly damaging), Testable gene in GeneTests
0.5HMCN1-E2893Ghomozygous0.554Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.91 (probably damaging), Testable gene in GeneTests
0.5CFH-H402Yhomozygous0.626Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-R1658Hhet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-R1539Chet unknown0.089Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CACNA1S-L458Hhet unknown0.273Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CEP350-R892Thet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.987 (probably damaging)
0.5CEP350-E945Qhet unknown0.533Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.168 (benign)
0.5CEP350-T1446Ahet unknown0.077Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.197 (benign)
0.5NDUFS2-P352Ahet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests
0.5CHIA-N45Dhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHIA-D47Nhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.008 (benign)
0.5CHIA-R61Mhet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHIA-I339Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CHIA-F354Shomozygous0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.5CHIA-F377Lhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.956 (probably damaging)
0.5CHIA-V432Ghomozygous0.721Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PTPN22-W620Rhomozygous0.934Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TDRKH-G257Ahet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.937 (probably damaging)
0.5USP21-G321Dhet unknown0.042Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5CD244-G287Ahet unknown0.019Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5USH1C-E819Dhomozygous0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-G102Shomozygous0.369Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-F124Shomozygous0.799Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-A162Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLC6A5-G767Rhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CLN5-R2Chet unknown0.104Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLN5-N242Khet unknown0.010Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FIGN-P211Shet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging)
0.5JPH4-A502Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5PCK2-Q121Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SUCLA2-S199Thomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SGCG-N287Shomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MMAB-M239Khomozygous0.598Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MMAB-R19Qhomozygous0.283Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ACAD10-A911Vhet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ACAD10-VE996SQhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5CCDC60-I46Vhet unknown0.293Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.708 (possibly damaging)
0.5CCDC60-G398Dhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5SCARB1-G2Shet unknown0.081Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.937 (probably damaging)
0.5ZFYVE26-N1891Shomozygous0.942Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ZFYVE26-S1040Thet unknown0.031Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5ACOT4-R57Chet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.346 (possibly damaging)
0.5ACOT4-A187Dhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.5ACOT4-AY189QShet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5DUOX2-S1067Lhomozygous0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DUOX2-P138Lhomozygous0.741Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GATM-Q110Hhomozygous0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN1-C472Yhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ONECUT1-P75Ahet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.97 (probably damaging)
0.5STRC-Q84Rhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MGA-T716Shomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MGA-Y1453Chet unknown0.011Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5MGA-P1523Ahet unknown0.303Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.998 (probably damaging)
0.5MLH3-P844Lhet unknown0.443Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5MLH3-N826Dhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TSHR-E727Dhomozygous0.920Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GALC-T641Ahomozygous0.959Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GALC-I562Thet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.167 (benign), Testable gene in GeneTests with associated GeneReview
0.5TJP1-D1347Ahet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.998 (probably damaging)
0.5SPATA7-D2Nhomozygous0.290Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.665 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5UTP20-S502Chet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.973 (probably damaging)
0.5UTP20-R693Khet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5UTP20-L1882Qhomozygous0.991Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BEST3-Y43Hhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5GSTP1-I105Vhomozygous0.360Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5GSTP1-A114Vhet unknown0.062Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.018 (benign)
0.5IGHMBP2-L201Shomozygous0.777Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IGHMBP2-T879Khomozygous0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5RSF1-R1163Qhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5RSF1-S475Phomozygous0.175Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.125 (benign)
0.5USP35-V236Mhet unknown0.105Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5USP35-G636Ehet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5USP35-R816Hhet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5USP35-A876Phomozygous0.970Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SPTBN2-R1880Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPTBN2-RW939SGhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPTBN2-S825Ghomozygous0.987Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MUS81-R350Whet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.919 (probably damaging)
0.5PRR5L-A41Thet unknown0.818Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.96 (probably damaging)
0.5PRR5L-T139Ahet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.977 (probably damaging)
0.5PEX16-V116Ihomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGBL2-M671Ihomozygous0.570Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AGBL2-L480Phet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5SLC22A12-R173Khet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SLC22A12-VM185EThet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ROM1-L114Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Frameshift, Testable gene in GeneTests
0.5ROM1-G118Ahomozygous0.938Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.5TRPC6-A404Vhet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.937 (probably damaging), Testable gene in GeneTests
0.5ATM-S1691Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-D1853Nhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ATM-N1983Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TUBA1B-R264Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA1B-R264Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA1B-P263Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5TUBA1B-R229Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA1B-R229Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TUBA1B-R214Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5KRT83-H493Yhet unknown0.751Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-I279Mhet unknown0.409Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KRT83-C222*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.5KRT6B-Y497Chet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KRT6B-I365Vhet unknown0.301Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5KRT6B-N21Shet unknown0.535Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5STAT2-G825Chet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5LRRK2-R50Hhomozygous0.964Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-S1647Thet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LRRK2-M2397Thet unknown0.614Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SLCO1B3-S112Ahomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLCO1B3-M233Ihomozygous0.718Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.131 (benign)
0.5SLCO1B3-G256Ahet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.981 (probably damaging)
0.5SLCO1B3-I579Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SNX19-L878Rhomozygous0.809Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-N753Shet unknown0.633Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-L618Fhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SNX19-V361Lhomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5WNK1-T1056Phomozygous0.850Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5WNK1-C1506Shomozygous0.985Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DCP1B-N195Dhet unknown0.027Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging)
0.5CLECL1-S52Shifthet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5VWF-R1399Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-T1381Ahomozygous0.712Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-Q852Rhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H596Yhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VWF-H484Rhomozygous0.503Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.83 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5VWF-N318Khet unknown0.161Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.012 (benign), Testable gene in GeneTests with associated GeneReview
0.5FAM83E-P311Lhet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5FAM83E-T91Ahet unknown0.343Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5EVC-P157Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EVC-Y258Hhomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.985 (probably damaging), Testable gene in GeneTests
0.5HLA-H-V92Lhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-SP182WShet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-H-C238Shomozygous0.729Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GTF2H4-R337Qhet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5MICA-R29Phet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5MICA-G198Shet unknown0.258Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MICA-G318Shifthet unknown0.163Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5TNXB-Q3848Khet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R2597Qhet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-G2518Ehet unknown0.685Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-V2127Mhet unknown0.143Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-H1161Rhet unknown0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-S921Ahet unknown0.139Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-R511Hhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TNXB-A173Thet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NHLRC1-P111Lhet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.992 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5FLT4-R1321Qhet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5F12-A207Phomozygous0.976Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PROP1-N20Shomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GRM6-Q59Phomozygous0.616Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5MAML1-G97Rhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.403 (possibly damaging)
0.5HLA-DQB1-Q256Rhet unknown0.221Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-G157Shet unknown0.191Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-V148Ihet unknown0.180Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A70Vhet unknown0.246Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-Y62Hhomozygous0.274Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L58Ghet unknown0.132Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-F41Yhomozygous0.782Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-L28Shet unknown0.375Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-M24Ihet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HLA-DQB1-A6Shet unknown0.194Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL11A2-P894Lhet unknown0.096Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.996 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5LCA5-G656Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LCA5-L24Shomozygous0.839Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5AIM1-Q293Phomozygous0.243Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AIM1-E1196Ahomozygous0.930Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.015 (benign)
0.5AIM1-C1395Yhomozygous0.254Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.958 (probably damaging)
0.5ARMC2-T546Mhet unknown0.025Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging)
0.5EYA4-G277Shomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.697 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5PRIM2-E181Khet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-D204Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-S259Ghet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-L286Phet unknown0.441Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Y287Chet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-H289Rhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-N298Shifthet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.5PRIM2-G304*het unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5PRIM2-V310Ghet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-V310Ghet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-T323Ahet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Q325*het unknown0.492Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Nonsense mutation
0.5PRIM2-D342Ghet unknown0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-Y345Chet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-R349Chet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-G434Dhet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-H445Qhet unknown0.767Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PRIM2-S464Phet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5PKHD1-Q4048Rhet unknown0.524Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-Q3899Rhet unknown0.522Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-L1870Vhomozygous0.952Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-A1262Vhomozygous0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PKHD1-R760Chomozygous0.386Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TULP1-K261Nhomozygous0.844Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH8-G807Ehet unknown0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH8-T3707Mhet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.994 (probably damaging)
0.5TRERF1-D1187Nhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5CUL7-Q813Rhomozygous0.977Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NSD1-A691Thet unknown0.018Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5NSD1-S726Phet unknown0.129Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.92 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5NSD1-A1036Phet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.004 (benign), Testable gene in GeneTests with associated GeneReview
0.5NSD1-M2250Ihet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.168 (benign), Testable gene in GeneTests with associated GeneReview
0.5NSD1-M2261Thet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5MSX2-M129Thomozygous0.753Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AGA-T149Shomozygous0.923Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DNAH5-Q2463Rhet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-T558Ahomozygous0.330Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.791 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5DNAH5-G24Ehomozygous0.393Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH5-H12Qhomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IL7R-I66Thet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-V138Ihet unknown0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5IL7R-I356Vhet unknown0.294Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HEXB-L62Shomozygous0.968Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5DCHS2-S2117Ahet unknown0.008Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.963 (probably damaging)
0.5DCHS2-V2007Shifthet unknown0.016Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5DCHS2-N897Shomozygous0.891Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5DCHS2-P870Lhet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.003 (benign)
0.5DCHS2-S344Lhomozygous0.982Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DCHS2-H174Rhomozygous0.448Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.317 (possibly damaging)
0.5DCHS2-V153Ahomozygous0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.227 (possibly damaging)
0.5ALPK1-G565Dhomozygous0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK1-H642Rhomozygous0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK1-M732Ihomozygous0.655Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK1-M861Thomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ALPK1-R1084Qhet unknown0.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5ABCG2-Q141Khet unknown0.082Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.548 (possibly damaging)
0.5ADH1B-H48Rhomozygous0.963Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5HADH-L86Phomozygous0.847Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HADH-P215Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CFI-T300Ahomozygous0.965Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5AP3B1-V585Ehomozygous0.932Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-V720Ahet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-K1516Rhomozygous0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-R1826Hhomozygous0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5VCAN-F2301Yhomozygous0.496Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5VCAN-D2937Yhomozygous0.388Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.11 (benign), Testable gene in GeneTests with associated GeneReview
0.5SLC26A2-I574Thomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SCN1A-A1056Thomozygous0.724Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5NIPAL4-R213Ghomozygous0.449Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5GABRG2-I215Vhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GABRG2-G235Chet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ADRB2-G16Rhet unknown0.413Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5ADRB2-E27Qhet unknown0.661Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.5SPINK5-Q267Rhomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-A335Vhomozygous0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-S368Nhomozygous0.428Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-K420Ehomozygous0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SPINK5-R711Qhomozygous0.545Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GPR98-L1093Fhomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V1951Ihomozygous0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-N1985Dhet unknown0.192Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-P1987Lhet unknown0.302Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.366 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-L2004Fhet unknown0.234Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.841 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-Y2232Chet unknown0.316Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.989 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2345Shet unknown0.288Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-N2584Shomozygous0.735Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-S2764Lhet unknown0.047Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-G3248Dhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.961 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3471Khomozygous0.758Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E3867Khet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-P4811Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-E5344Ghomozygous0.937Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5427Mhomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GPR98-V5876Ihet unknown0.432Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.94 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5PCSK1-S690Thet unknown0.235Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.061 (benign), Testable gene in GeneTests
0.5PCSK1-Q665Ehet unknown0.247Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ERAP2-K392Nhomozygous0.542Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ERAP2-N501Shifthet unknown0.024Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5FBN2-S2580Lhomozygous0.078Dominant
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-V965Ihomozygous0.665Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FBN2-P326Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HSD17B4-R106Hhomozygous0.362Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.547 (possibly damaging), Testable gene in GeneTests
0.5HSD17B4-I559Vhomozygous0.404Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.111 (benign), Testable gene in GeneTests
0.5SYNE1-G8323Ahet unknown0.376Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5SYNE1-F7302Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-L5015Mhomozygous0.808Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-S4596Thomozygous0.793Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-K4121Rhet unknown0.784Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SYNE1-E4060Dhet unknown0.566Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests with associated GeneReview
0.5OPRM1-N40Dhet unknown0.096Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5OPRM1-Q402Hhet unknown0.820Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5UNC13B-T290Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5UNC13B-F1096Lhet unknown0.005Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5FAM201A-G53Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5FAM201A-Q115*het unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.5ROR2-V819Ihomozygous0.704Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ROR2-T245Ahomozygous0.678Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5IPPK-L376Fhet unknown0.040Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.865 (probably damaging)
0.5DNAI1-A8Shet unknown0.048Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5DNAI1-V335Ihet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.467 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5IFNA1-V10Ahet unknown0.041Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5GRHL2-K9Rhet unknown0.020Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5KLHL38-C504Yhet unknown0.082Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5KLHL38-N352Yhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.053 (benign)
0.5KLHL38-R346Khomozygous0.765Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5KLHL38-I334Vhomozygous0.806Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.5KLHL38-H98Rhomozygous0.795Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.016 (benign)
0.5IFNA16-IA132TPhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5IFNA16-D95Hhet unknown0.046Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.726 (possibly damaging)
0.5IFNA17-H57Shifthet unknown0.023Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5BAAT-R20Qhomozygous0.627Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.136 (benign), Testable gene in GeneTests
0.5ABCA1-K1587Rhomozygous0.582Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABCA1-R219Khet unknown0.393Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ATRX-Q929Ehomozygous0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5XIAP-Q423Phomozygous0.401Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.053 (benign), Testable gene in GeneTests with associated GeneReview
0.5F9-T194Ahomozygous0.233Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.006 (benign), Testable gene in GeneTests with associated GeneReview
0.5OPN1LW-S180Ahomozygous0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5DMD-R2937Qhomozygous0.957Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DMD-K2366Qhomozygous0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.875 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5DMD-R1745Hhomozygous0.336Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5KAL1-V534Ihomozygous0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MUSK-V829Lhet unknown0.097Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-H752Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DFNB31-R364Hhomozygous0.981Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-V1540Lhet unknown0.698Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CDK5RAP2-E289Qhomozygous0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSE-G424Shomozygous0.490Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-T298Phomozygous0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5CNGB3-C234Whomozygous0.880Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5PEX2-C184Rhomozygous0.989Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DDC-M17Vhomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5EGFR-R521Khet unknown0.203Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SBDS-I212Thet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.5ELN-G422Shomozygous0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CCM2-V53Ihet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.007 (benign), Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-C208Rhomozygous0.787Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TXNDC3-I493Thet unknown0.007Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.074 (benign), Testable gene in GeneTests with associated GeneReview
0.5FNDC1-S36Phomozygous0.253Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-P122Shet unknown0.044Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging)
0.5FNDC1-T438Ahet unknown0.352Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5FNDC1-E463Qhet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-Q1003Ehet unknown0.854Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-D1180Ehet unknown0.856Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.47 (possibly damaging)
0.5FNDC1-L1261Phet unknown0.852Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.38 (possibly damaging)
0.5FNDC1-Q1280Rhet unknown0.853Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.25 (possibly damaging)
0.5FNDC1-T1504Khet unknown0.872Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5SLC22A2-S270Ahomozygous0.881Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5DNAH11-E34Lhomozygous0.368Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-Q639Rhet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S654Chet unknown0.123Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V1023Ahet unknown0.350Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-T1038Ahomozygous0.816Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-N2641Shet unknown0.529Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-V3715Lhomozygous0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-S3765Phet unknown0.085Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5DNAH11-M4172Vhet unknown0.718Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GARS-P42Ahomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCB1-S893Ahet unknown0.683Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ABCB1-N21Dhet unknown0.074Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5AKAP9-M463Ihet unknown0.442Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K1335KQhet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-K2484Rhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-N2792Shet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5AKAP9-P2979Shomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-V246Ahomozygous0.867Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-I93Vhomozygous0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ASAH1-V72Mhomozygous0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5SH2D4A-E209Ghet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.968 (probably damaging)
0.5SH2D4A-E216Ghomozygous0.245Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.931 (probably damaging)
0.5SH2D4A-G263Ahet unknown0.028Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5SH2D4A-S275Nhet unknown0.251Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIM35-R456Chet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.986 (probably damaging)
0.5LY96-R56Ghomozygous0.972Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5LY96-P157Shet unknown0.013Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging)
0.5MCPH1-R171Shomozygous0.924Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D314Hhomozygous0.681Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.136 (benign), Testable gene in GeneTests with associated GeneReview
0.5MCPH1-D392Ghomozygous0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MCPH1-A761Vhet unknown0.408Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5KCNH2-K897Thet unknown0.169Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5CYP3A7-R409Thomozygous0.762Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5TRIP6-R111Qhet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.996 (probably damaging)
0.5TRIP6-V230Ihet unknown0.224Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.028 (benign)
0.5SERPINE1-A15Thet unknown0.084Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.5CLCN1-G118Whomozygous0.983Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-R300Qhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CLCN1-P727Lhet unknown0.424Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5FLNC-R1567Qhet unknown0.066Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.676 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5GM2A-I59Vhomozygous0.606Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GM2A-M69Vhomozygous0.722Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ALS2-P372Rhet unknown0.001Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ALS2-V368Mhomozygous0.859Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SAG-I76Vhet unknown0.067Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.436 (possibly damaging), Testable gene in GeneTests
0.5SAG-V403Ihomozygous0.305Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5ABHD10-I251Vhet unknown0.050Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5ACOX2-T154Shifthet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.5COL6A3-A3012Phomozygous0.835Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2988Vhet unknown0.069Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL6A3-M2927Thomozygous0.700Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TMC2-W217Rhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.994 (probably damaging)
0.5SNRK-P391Shet unknown0.009Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.999 (probably damaging)
0.5DRD3-G9Shomozygous0.533Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.5HGD-Q80Hhomozygous0.745Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5SERPINI1-A280Thet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.995 (probably damaging)
0.5CPS1-T1406Nhomozygous0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ABCA12-S777Thomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5MYLK-L496Vhomozygous0.999Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5MYLK-P443Shet unknown0.015Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.999 (probably damaging)
0.5MYLK-P147Shomozygous0.871Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5CASR-A986Shet unknown0.109Unknown
benign
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.5CASR-E1011Qhomozygous0.916Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5OBSL1-Q1578Rhomozygous0.962Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-E1365Dhomozygous0.702Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5OBSL1-R723Khomozygous0.827Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5GLB1-S532Ghet unknown0.053Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLB1-C521Rhomozygous0.934Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5GLB1-P10Lhomozygous0.477Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FERMT1-R526Khet unknown0.073Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5FERMT1-R255Chet unknown0.064Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests
0.5FERMT1-I160Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.004 (benign), Testable gene in GeneTests
0.5GTSF1L-L56Vhet unknown0.022Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.967 (probably damaging)
0.5PCNT-G704Ehomozygous0.894Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-V1038Ahomozygous0.883Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-P1524Rhet unknown0.003Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.16 (benign), Testable gene in GeneTests
0.5PCNT-P2274Lhet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.012 (benign), Testable gene in GeneTests
0.5PCNT-Q2659Hhet unknown0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.849 (possibly damaging), Testable gene in GeneTests
0.5PCNT-Q2792Rhet unknown0.693Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.006 (benign), Testable gene in GeneTests
0.5PCNT-A2891Thet unknown0.012Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5PCNT-R3245Shet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.657 (possibly damaging), Testable gene in GeneTests
0.5DLG1-P921Lhet unknown0.036Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown
0.5SALL4-I798Lhet unknown0.093Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.5TUBB1-Q43Phet unknown0.037Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.877 (probably damaging)
0.5PCK1-V184Lhomozygous0.903Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5HPS4-Q620Hhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.859 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.5HPS4-H601Yhomozygous0.868Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-V547Mhomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5HPS4-E224Ghomozygous0.821Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ISX-S28Ghomozygous0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5ISX-R83Qhet unknown0.039Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5ISX-T182Mhet unknown0.083Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.002 (benign)
0.5OTOR-M1Thet unknown0.032Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.946 (probably damaging)
0.5JAG1-P871Rhet unknown0.049Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.5FANCD2-P714Lhomozygous0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5ARSA-T391Shomozygous0.481Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5LPIN3-R61Whet unknown0.030Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging)
0.5LPIN3-Q679Hhet unknown0.296Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.5BPIL1-D359Hhet unknown0.038Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.924 (probably damaging)
0.5GBE1-I334Vhomozygous0.980Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5CERKL-E53Khet unknown0.002Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP10-L522Ihomozygous0.439Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5COL3A1-H1353Qhomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5RFTN2-N198Khet unknown0.006Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.991 (probably damaging)
0.5NEUROD1-T45Ahomozygous0.672Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5CASP8-K14Rhomozygous0.671Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.5TTN-E32484Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R32018Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R29962Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-E29780Ahet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-L29276Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I26820Thet unknown0.318Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I25199Vhet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T24045Mhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R22371Chet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A19840Phomozygous0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V19783Ihet unknown0.223Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T18827Ihet unknown0.312Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-P17286Lhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R16903Hhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N16125Dhet unknown0.322Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-I9278Vhet unknown0.329Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R8194Qhet unknown0.043Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-N7559Shet unknown0.153Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S7181Nhet unknown0.155Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-A7111Ehet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R7050Ghet unknownUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-E6900Ahet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-D6218Hhet unknown0.157Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-G5624Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S3419Nhomozygous0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-V3261Mhomozygous0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-S1295Lhomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-K1201Ehet unknown0.731Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-T811Ihet unknown0.186Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.5TTN-R328Chet unknown0.088Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375LRRC50-K393Rhet unknown0.378Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.683 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375LRRC50-E540EPKEhet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375STIL-H985Rhet unknown0.279Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.648 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.375STIL-V788Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375STIL-A86Vhet unknown0.595Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.375SERPING1-M388Ihet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.375SERPING1-V480Mhet unknown0.220Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.005 (benign), Testable gene in GeneTests
0.25ANXA11-R230Chet unknown0.341Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 1.0 (probably damaging)
0.25LIPA-T16Phet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25GDF5-S276Ahet unknown0.359Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25THBD-A473Vhet unknown0.140Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LDLRAP1-S202Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.803 (possibly damaging), Testable gene in GeneTests
0.25PTF1A-S263Phet unknown0.507Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.981 (probably damaging), Testable gene in GeneTests
0.25CDA-K27Qhet unknown0.262Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MYO3A-R319Hhet unknown0.488Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-I348Vhet unknown0.680Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-V369Ihet unknown0.661Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-S956Nhet unknown0.520Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO3A-T1284Shet unknown0.395Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.002 (benign), Testable gene in GeneTests
0.25MYO3A-R1313Shet unknown0.562Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC29A3-V239Ihet unknown0.864Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC29A3-I326Vhet unknown0.893Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PCDH15-G385Shet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GGCX-R325Qhet unknown0.420Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25SLC1A5-L520Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC1A5-V512Lhomozygous0.238Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CYP3A43-P340Ahet unknown0.137Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.925 (probably damaging)
0.25EIF2AK3-A704Shet unknown0.802Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-Q166Rhet unknown0.732Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EIF2AK3-S136Chet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25DLL3-L218Phet unknown0.593Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALDH4A1-V470Ihet unknown0.111Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests
0.25CLCNKA-Y315Fhet unknown0.187Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLCNKA-P683Lhet unknown0.100Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.927 (probably damaging), Testable gene in GeneTests
0.25SLC2A10-A206Thet unknown0.120Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AHR-R554Khet unknown0.222Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SOD2-V16Ahet unknown0.476Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25LRP2-I4210Lhet unknown0.602Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.993 (probably damaging)
0.25LRP2-K4094Ehet unknown0.799Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-A2872Thet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRP2-R2012Khet unknown0.014Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.011 (benign)
0.25LRP2-G259Rhet unknown0.056Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25ABCB11-V444Ahet unknown0.603Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25ICAM1-K469Ehet unknown0.349Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLOD1-A99Thet unknown0.282Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PLOD1-A120Shet unknown0.151Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.01 (benign), Testable gene in GeneTests with associated GeneReview
0.25H19-W38Rhet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RNH1-P170Lhet unknown0.122Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.881 (probably damaging)
0.25CALHM1-L86Phet unknown0.798Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NPHS1-E117Khet unknown0.227Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.997 (probably damaging), Testable gene in GeneTests
0.25BCAT2-T186Rhet unknown0.144Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.548 (possibly damaging), Testable gene in GeneTests
0.25GLI3-P998Lhet unknown0.252Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MMP9-Q279Rhet unknown0.346Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R574Phomozygous0.918Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MMP9-R668Qhet unknown0.135Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NOTCH3-A2223Vhet unknown0.730Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NOTCH3-H1133Qhet unknown0.013Unknown
benign
Insufficiently evaluatedPrioritization score: 4
Polyphen 2: 0.953 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25ACADSB-R13Khet unknown0.281Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.08 (benign), Testable gene in GeneTests
0.25IL12RB1-G378Rhet unknown0.268Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25IL12RB1-M365Thet unknown0.289Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BBS9-A455Thet unknown0.173Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ADAMTS13-Q448Ehet unknown0.297Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SEC16A-P2321Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SEC16A-R1039Chomozygous0.201Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TMEM67-I604Vhet unknown0.638Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FCGR3A-F212Vhet unknown0.285Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25FSHR-S680Nhet unknown0.556Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FSHR-A307Thet unknown0.451Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FMO3-E158Khet unknown0.429Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25FMO3-E308Ghet unknown0.137Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.141 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-H157Phet unknown0.947Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SLC4A3-D867Ahet unknown0.674Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MCEE-R104Lhet unknown0.189Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests with associated GeneReview
0.25FKTN-R203Qhet unknown0.263Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.166 (benign), Testable gene in GeneTests with associated GeneReview
0.25LHX4-N328Shet unknown0.406Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATIC-T116Shet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25DOCK8-D63Nhet unknown0.128Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.99 (probably damaging), Testable gene in GeneTests
0.25DOCK8-N413Shet unknown0.277Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.19 (benign), Testable gene in GeneTests
0.25ABCG5-Q604Ehet unknown0.214Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.73 (possibly damaging), Testable gene in GeneTests
0.25CASQ2-T66Ahet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GSTM1-S210Thet unknown0.589Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25NOTCH2-P210Lhet unknown0.333Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GCKR-L446Phet unknown0.679Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GBA-K144Rhet unknown0.619Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GBA-R140Whet unknown0.357Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL6R-D358Ahet unknown0.316Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.911 (probably damaging)
0.25AOX1-N1135Shet unknown0.174Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NLRP7-V319Ihet unknown0.298Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25COL4A4-S1400Phet unknown0.469Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-V1327Mhet unknown0.445Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P1004Lhet unknown0.516Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A4-P482Shet unknown0.499Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GNPAT-D519Ghet unknown0.168Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.025 (benign), Testable gene in GeneTests
0.25AGT-M268Thet unknown0.561Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C8orf49-G26RhomozygousUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-I81Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C8orf49-C194*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25MOGS-P293Shet unknown0.332Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MOGS-D239Nhet unknown0.306Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.031 (benign), Testable gene in GeneTests with associated GeneReview
0.25RP1L1-G2285Rhomozygous0.377Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1L1-D1889Vhet unknown0.198Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1L1-P1495Rhet unknown0.245Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1L1-A1483Vhet unknown0.118Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1L1-R1467Shomozygous0.950Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1L1-E1343Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25RP1L1-E1340Ghet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1L1-G1335Vhet unknown0.142Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1L1-A1319Ghet unknown0.346Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1L1-R1146Whomozygous0.706Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SETX-I2587Vhet unknown0.450Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-T1855Ahet unknown0.310Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-I1386Vhet unknown0.691Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-G1252Rhet unknown0.690Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SETX-D1192Ehet unknown0.790Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25OR2T29-Q18Rhet unknown0.587Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25OR2T29-Q18Rhet unknown0.587Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25KCNQ4-H455Qhet unknown0.174Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.191 (benign), Testable gene in GeneTests with associated GeneReview
0.25EPHX1-H139Rhet unknown0.248Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25NAT2-I114Thet unknown0.398Recessive
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NAT2-R268Khet unknown0.581Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RP1-R872Hhet unknown0.235Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-N985Yhet unknown0.349Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.958 (probably damaging), Testable gene in GeneTests
0.25RP1-A1670Thet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25RP1-S1691Phet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RP1-C2033Yhet unknown0.314Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.957 (probably damaging), Testable gene in GeneTests
0.25NCF2-K181Rhet unknown0.433Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LEPR-K109Rhet unknown0.231Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.026 (benign), Testable gene in GeneTests
0.25LEPR-Q223Rhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.484 (possibly damaging), Testable gene in GeneTests
0.25COL4A3-L141Phet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL4A3-E162Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ASPM-L2647Ihet unknown0.320Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ASPM-S2562Ghet unknown0.317Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ASPM-Y2494Hhet unknown0.996Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KISS1-*139Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25KISS1-P81Rhet unknown0.197Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KISS1-E20Khet unknown0.026Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ALG6-S306Fhet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SFTPC-S186Nhet unknown0.261Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LAMA2-DLD560Delhet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LAMA2-A2585Vhet unknown0.637Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LAMA2-T2634Ahet unknown0.080Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CTSW-S139Ghomozygous0.930Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CTSW-D175Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MADD-V751Mhet unknown0.226Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLC2A2-T110Ihet unknown0.240Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-E277Khet unknown0.756Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-L201Shet unknown0.748Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-G175Dhet unknown0.381Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25AMACR-V9Mhet unknown0.415Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PLXND1-S1542Nhomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLXND1-H894Rhomozygous0.990Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25PLXND1-N675Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GHR-I544Lhet unknown0.435Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25GK-E485Khet unknown0.114Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GK-G382*het unknownUnknown
Insufficiently evaluatedPrioritization score: 3
Nonsense mutation, Testable gene in GeneTests
0.25PLD1-A622Shet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25BBS12-R386Qhet unknown0.416Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.009 (benign), Testable gene in GeneTests with associated GeneReview
0.25SLC28A1-L140LVhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SLC28A1-V189Ihet unknown0.303Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLC28A1-Q237Khet unknown0.204Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25NR3C2-V180Ihet unknown0.899Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ADAMTSL3-L290Vhet unknown0.849Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25ADAMTSL3-V661Lhet unknown0.620Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KRT14-A94Thet unknown0.440Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT14-C63Yhet unknown0.993Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ARSB-V376Mhet unknown0.136Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests
0.25APC-V1822Dhet unknown0.826Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25IL13-Q144Rhet unknown0.811Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25C5orf20-R117*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25C5orf20-N97Dhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25C5orf20-T75Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25SIX6-H141Nhet unknown0.434Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.008 (benign), Testable gene in GeneTests with associated GeneReview
0.25WDR36-I264Vhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SEMA5B-D1028Ghomozygous0.744Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SEMA5B-V840Dhomozygous0.780Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SEMA5B-W779Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SEMA5B-I220Thet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPTBN5-K3267Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SPTBN5-E3239Ahet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPTBN5-E3239Ahet unknown0.361Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SPTBN5-H398Rhet unknown0.845Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25JUP-M697Lhet unknown0.699Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ITGA2B-I874Shet unknown0.380Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25GOLGA5-F350Lhet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25GOLGA5-E623Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25SERPINA1-E400Dhet unknown0.208Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25SERPINA1-R125Hhet unknown0.121Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25ROGDI-Q266Rhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25ROGDI-V263Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ALG1-D429Ehet unknown0.117Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.025 (benign), Testable gene in GeneTests with associated GeneReview
0.25WDR1-I185Vhomozygous0.623Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25WDR1-E175Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TLR6-S249Phet unknown0.695Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25UGT2B7-Y268Hhet unknown0.207Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TK2-K30Rhet unknown0.237Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FANCA-G501Shet unknown0.483Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25WFS1-V333Ihet unknown0.800Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HTT-T1720Nhet unknown0.205Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25HTT-Y2309Hhet unknown0.466Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25C4orf6-L24Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25C4orf6-I43Thet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CHRNB1-E32Ghet unknown0.250Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.288 (possibly damaging), Testable gene in GeneTests with associated GeneReview
0.25COX10-R159Qhet unknown0.486Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CPN2-V536Mhet unknown0.248Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.935 (probably damaging), Testable gene in GeneTests
0.25GPR56-S281Rhet unknown0.609Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SH2B1-T484Ahet unknown0.343Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25EIF2B5-I587Vhet unknown0.328Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25MCCC1-H464Phet unknown0.584Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ABAT-Q56Rhet unknown0.514Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CD19-L174Vhet unknown0.768Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AK298931-E88QhomozygousUnknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25AK298931-W38*het unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Nonsense mutation
0.25AK298931-T4Shet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25HERC3-Q77Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25HERC3-E946Qhet unknown0.169Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.385 (possibly damaging)
0.25BBS2-I123Vhet unknown0.196Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25BBS2-S70Nhomozygous0.994Unknown
benign
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO15A-C1977Rhet unknown0.805Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MYO15A-Y2682Fhet unknown0.344Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25CLDN16-R55Shifthet unknown0.172Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Frameshift, Testable gene in GeneTests
0.25MANBA-T701Mhet unknown0.552Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25MANBA-V253Ihet unknown0.383Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.003 (benign), Testable gene in GeneTests
0.25BRIP1-S919Phet unknown0.612Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25PAX9-A240Phet unknown0.311Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TNFRSF11A-H141Yhet unknown0.126Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.909 (probably damaging), Testable gene in GeneTests
0.25TNFRSF11A-A192Vhomozygous0.550Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-D338Ghet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-R310Khet unknown0.931Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PRPH2-Q304Ehet unknown0.774Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25PEX6-P939Qhet unknown0.430Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CD226-S307Ghet unknown0.451Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25KIF6-W719Rhet unknown0.507Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.01 (benign)
0.25DPAGT1-I393Vhet unknown0.390Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25GYS2-M363Vhet unknown0.739Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25SLCO1B1-N130Dhet unknown0.528Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25SLCO1B1-P155Thet unknown0.135Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25HSPA1L-T493Mhet unknown0.873Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25TRIOBP-S217Nhet unknown0.544Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.914 (probably damaging), Testable gene in GeneTests
0.25TRIOBP-Q398Delhet unknown0.308Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TRIOBP-N863Khet unknown0.342Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.98 (probably damaging), Testable gene in GeneTests
0.25MOV10L1-T18Shet unknown0.150Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MOV10L1-M57Lhet unknown0.212Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25MOV10L1-R182Chet unknown0.210Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.997 (probably damaging)
0.25MOV10L1-I413Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25MOV10L1-V650Ihet unknown0.209Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.078 (benign)
0.25MOV10L1-Q820Rhet unknown0.222Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MOV10L1-A1179Ehet unknown0.115Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25MUT-I671Vhet unknown0.608Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25COL6A1-R850Hhet unknown0.341Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25SLC22A16-M409Thet unknown0.179Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: 0.999 (probably damaging)
0.25SLC22A16-V252Ahet unknown0.098Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.609 (possibly damaging)
0.25SLC22A16-H49Rhet unknown0.271Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CCDC88B-W639Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25CCDC88B-D886Ahomozygous0.958Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.001 (benign)
0.25COL10A1-G545Rhet unknown0.162Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.774 (possibly damaging), Testable gene in GeneTests
0.25COL10A1-M27Thet unknown0.500Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25RSPH4A-R556Hhet unknown0.167Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0.25RSPH4A-L589Phet unknown0.701Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ZNF831-T52Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25ZNF831-S1513Phet unknown0.474Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25CBR3-V244Mhet unknown0.400Unknown
pharmacogenetic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.014 (benign)
0.25ITGB2-Q354Rhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.25ITGB2-Q354Rhet unknown1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.543 (possibly damaging), Testable gene in GeneTests
0.25MYO7A-L16Shet unknown0.470Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-S1666Chet unknown0.588Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25MYO7A-L1954Ihet unknown0.549Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25EYS-L852Phet unknown0.642Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-E641Vhet unknown0.185Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-G631Shet unknown0.517Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25EYS-T120Mhet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25STXBP2-I526Vhet unknown0.675Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25LMBRD1-D469Ehet unknown0.313Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25COL2A1-T9Shet unknown0.791Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AK057217-C385Fhet unknown0.062Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25AK057217-F379Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25FREM2-S745Phomozygous1.000Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown, Testable gene in GeneTests
0.25FREM2-F1070Shet unknown0.438Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25B3GALTL-E370Khet unknown0.658Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.088 (benign), Testable gene in GeneTests with associated GeneReview
0.25CENPJ-S879Ahet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.002 (benign), Testable gene in GeneTests with associated GeneReview
0.25CENPJ-P85Thet unknown0.106Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.021 (benign), Testable gene in GeneTests with associated GeneReview
0.25ACOX1-I312Mhet unknown0.505Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25LRCH1-G51Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25LRCH1-L162Vhet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25LRCH1-S234Phomozygous0.998Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25TSEN54-A437Vhet unknown0.659Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.001 (benign), Testable gene in GeneTests with associated GeneReview
0.25COCH-T352Shet unknown0.509Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25TCOF1-P1139Rhet unknown0.170Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25AXIN2-P50Shet unknown0.389Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25COG1-N392Shet unknown0.530Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25RBM19-R921Qhet unknown0.239Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RBM19-Q602Ehomozygous0.994Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: Unknown
0.25RBM19-F445Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25GAA-H199Rhet unknown0.673Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25KRT6C-V481Ihet unknown0.270Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25ALDH5A1-H180Yhet unknown0.374Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25CELA1-L210Shifthet unknown0.156Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 1
Frameshift
0.25CELA1-M59Vhet unknown0.241Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.24 (possibly damaging)
0.25CELA1-Y5Phet unknownUnknown
Insufficiently evaluatedPrioritization score: 1
Polyphen 2: Unknown
0.25CELA1-V3Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 2
Frameshift
0.25TMEM43-K168Nhet unknown0.287Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: 0.064 (benign), Testable gene in GeneTests with associated GeneReview
0.25TMEM43-M179Thet unknown0.335Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25NPC1-M642Ihet unknown0.738Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25XPC-Q939Khet unknown0.643Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0.25F13A1-E652Qhet unknown0.218Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25F13A1-P565Lhet unknown0.193Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests
0.25ATXN1-P753Shet unknown0.146Unknown
not reviewed
Insufficiently evaluatedPrioritization score: 2
Polyphen 2: Unknown, Testable gene in GeneTests with associated GeneReview
0MEFV-R202Qhet unknown0.178Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 3
Polyphen 2: 0.019 (benign), Testable gene in GeneTests with associated GeneReview
0HFE-C282Yhet unknown0.049Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 5
Polyphen 2: 1.0 (probably damaging), Testable gene in GeneTests with associated GeneReview
0H6PD-R453Qhet unknown0.309Recessive
pathogenic
Insufficiently evaluatedPrioritization score: 0
Polyphen 2: 0.004 (benign)
0DSP-K2113Shifthet unknownUnknown
Insufficiently evaluatedPrioritization score: 4
Frameshift, Testable gene in GeneTests with associated GeneReview

Input file format: CGIVAR

Genome build: b37

Genome coverage: 2,739,855,584 bases (95.9% of callable positions, 88.9% of total positions)

Coding region coverage: 30,897,625 bases (92.8% of all genes, 94.0% of genes with clinical testing available)

Chromosomes: chr1, chr10, chr11, chr12, chr13, chr14, chr15, chr16, chr17, chr18, chr19, chr2, chr20, chr21, chr22, chr3, chr4, chr5, chr6, chr7, chr8, chr9, chrM, chrX, chrY

Gene search

"GENE" or "GENE A123C":

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