| |
| Variant | Impact | Inheritance pattern | Summary | Genomes |
|---|
| UNC13D A59T | uncertain benign, f=0.017 | unknown | Probably benign. This variant was reported to cause haemophagocytic lymphohistiocytosis in a recessive manner, but its allele frequency is inconsistent with this hypothesis and so we evaluate it as a nonpathogenic polymorphism.
(1 web hit) | CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| CGI sample GS00253-DNA_H01_200_37 (hom) |
| UNC13D T76M | insufficiently evaluated none, f=0.003 | unknown |
| |
| UNC13D G148A | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS19025-1100-36-ASM |
| UNC13D M204V | insufficiently evaluated not reviewed, f=0.001 | unknown |
| var-GS20502-1100-36-ASM |
| UNC13D R256X | insufficiently evaluated pathogenic, f=0.000 | unknown |
(1 web hit) | |
| UNC13D I283V | insufficiently evaluated not reviewed, f=0.009 | unknown |
| CGI sample GS00253-DNA_B02_200_37 |
| UNC13D L302F | insufficiently evaluated none, f=0.012 | unknown |
| |
| UNC13D T314X | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01173-DNA_F02 from PGP sample 70008981 |
| UNC13D P329S | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS18508-1100-36-ASM |
| UNC13D S401C | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_B05 from PGP sample 83494370 |
| UNC13D L403P | insufficiently evaluated pathogenic | unknown |
(1 web hit) | |
| UNC13D I410L | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS18942-1100-36-ASM |
| UNC13D L492M | insufficiently evaluated not reviewed | unknown |
| CGI sample GS00253-DNA_G01_200_37 |
| UNC13D R527W | insufficiently evaluated not reviewed, f=0.018 | unknown |
(1 web hit) | var-GS19703-1100-36-ASM |
| var-GS18502-1100-36-ASM |
| var-GS19238-1100-36-ASM |
| UNC13D I712M | insufficiently evaluated not reviewed | unknown |
| |
| UNC13D V779L | insufficiently evaluated not reviewed | unknown |
| |
| UNC13D V779M | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_G03 from PGP sample 92527586 |
| UNC13D F857C | insufficiently evaluated pathogenic | unknown |
(4 web hits) | |
| UNC13D G863D | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 |
| UNC13D K867E | insufficiently evaluated none, f=0.496 | unknown |
| CGI sample GS00253-DNA_E01_200_37 |
| CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| CGI sample GS01173-DNA_C02 from PGP sample 10366372 |
| var-GS19025-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_F02 from PGP sample 40767107 |
| CGI sample GS01175-DNA_H01 from PGP sample 94797469 |
| hu34D5B9 exome |
| PGP13 (hu3A8D13) build 37, from CGI var (software ver 1.11.0.16) |
| var-GS18942-1100-36-ASM |
| CGI sample GS01669-DNA_C05 from PGP sample 42408046 |
| var-GS19020-1100-36-ASM (hom) |
| var-GS19700-1100-36-ASM (hom) |
| var-GS18501-1100-36-ASM (hom) |
| var-GS18504-1100-36-ASM (hom) |
| var-GS18558-1100-36-ASM |
| CGI sample GS01173-DNA_G02 from PGP sample 67180598 |
| CGI sample GS000006909 |
| var-GS19703-1100-36-ASM (hom) |
| hu232307 build 36 substitution variants |
| var-GS12004-1100-36-ASM |
| CGI sample GS01173-DNA_H06 from PGP sample 91708424 |
| var-GS19701-1100-36-ASM |
| CGI sample GS01175-DNA_A04 from PGP sample 13272228 (hom) |
| var-GS19704-1100-36-ASM (hom) |
| CGI sample GS00253-DNA_A01_200_37 |
| CGI sample GS01173-DNA_D06 from PGP sample 69488604 |
| var-GS19834-1100-36-ASM (hom) |
| var-GS19239-1100-36-ASM (hom) |
| var-GS19017-1100-36-ASM (hom) |
| var-GS18502-1100-36-ASM (hom) |
| var-GS19649-1100-36-ASM |
| var-GS18555-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_B05 from PGP sample 86486261 |
| var-GS18537-1100-36-ASM (hom) |
| CGI sample GS01669-DNA_D02 from PGP sample 27316983 (hom) |
| CGI sample GS00253-DNA_B02_200_37 |
| CGI sample GS01173-DNA_F06 from PGP sample 64191565 |
| CGI sample GS01175-DNA_B01 from PGP sample 86206034 |
| var-GS19129-1100-36-ASM (hom) |
| var-GS19240-1100-36-ASM |
| var-GS18526-1100-36-ASM (hom) |
| var-GS18947-1100-36-ASM |
| var-GS18505-1100-36-ASM (hom) |
| var-GS19670-1100-36-ASM |
| CGI sample GS00253-DNA_H01_200_37 (hom) |
| CGI sample GS01669-DNA_A04 from PGP sample 08188426 (hom) |
| CGI sample GS01175-DNA_F02 from PGP sample 95788191 (hom) |
| CGI sample GS01175-DNA_B04 from PGP sample 88590671 (hom) |
| var-GS18508-1100-36-ASM |
| var-GS19026-1100-36-ASM (hom) |
| var-GS20509-1100-36-ASM |
| var-GS06985-1100-36-ASM |
| var-GS18956-1100-36-ASM |
| var-GS18517-1100-36-ASM (hom) |
| UNC13D L911R | insufficiently evaluated not reviewed, f=0.008 | unknown |
| var-GS18505-1100-36-ASM |
| UNC13D R928C | uncertain benign, f=0.016 | undefined | This variant was seen, along with other variants, in two cases of haemophagocytic lymphohistiocytosis — however, the variant frequency in these cases does not significantly differ from later reported frequency of the variant in exome sequencing data (1.4%). If the variant were causal it would be significantly enriched in cases; instead, it is likely a polymorphism unrelated to the disease in these patients.
(4 web hits) | CGI sample GS01669-DNA_C07 from PGP sample 74521372 |
| CGI sample GS01173-DNA_A07 from PGP sample 96240009 |
| UNC13D R928H | insufficiently evaluated not reviewed, f=0.001 | unknown |
| |
| UNC13D N943S | insufficiently evaluated not reviewed, f=0.002 | unknown |
| var-GS19700-1100-36-ASM |
| var-GS19834-1100-36-ASM |
| UNC13D R966W | insufficiently evaluated not reviewed | unknown |
| CGI sample GS01175-DNA_D05 from PGP sample 1205491 |
| UNC13D R1061Q | insufficiently evaluated none, f=0.008 | unknown |
| var-GS18517-1100-36-ASM |
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Total results: 26 |