GET-Evidence: Search

 
VariantImpactInheritance patternSummaryGenomes
ABCA4 R18Winsufficiently evaluated pathogenic, f=0.000unknown

(9 web hits)

ABCA4 R152Qinsufficiently evaluated pathogenic, f=0.003recessive

This variant was found as a double mutant homozygote in a Spanish individual with Stargardt disease.

(18 web hits)

ABCA4 Y179Cinsufficiently evaluated not reviewedunknown
ABCA4 A199Vinsufficiently evaluated not reviewed, f=0.001unknown var-GS19026-1100-36-ASM
ABCA4 S206Rinsufficiently evaluated not reviewed, f=0.008unknown var-GS19703-1100-36-ASM
ABCA4 R212Cinsufficiently evaluated pathogenic, f=0.000unknown

(39 web hits)

ABCA4 R212Hinsufficiently evaluated not reviewed, f=0.046unknown

This variant has been associated with AMD.

(22 web hits)

var-GS19025-1100-36-ASM
var-GS21767-1100-36-ASM
var-GS19239-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS19240-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
ABCA4 K223Qinsufficiently evaluated not reviewed, f=0.000unknown var-GS19025-1100-36-ASM
var-GS19020-1100-36-ASM
ABCA4 D279Shiftinsufficiently evaluated not reviewed, f=0.008unknown var-GS18504-1100-36-ASM
ABCA4 Y340Dinsufficiently evaluated pathogenicunknown

(8 web hits)

ABCA4 H423Rinsufficiently evaluated none, f=0.258unknown

(17 web hits)

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
CGI sample GS01175-DNA_G03 from PGP sample 92527586
CGI sample GS01669-DNA_C05 from PGP sample 42408046 (hom)
var-GS18501-1100-36-ASM
CGI sample GS01173-DNA_G02 from PGP sample 67180598
CGI sample GS000006909
CGI sample GS000005532
var-GS12004-1100-36-ASM
CGI sample GS01173-DNA_H06 from PGP sample 91708424
CGI sample GS01669-DNA_B03 from PGP sample 14427241
CGI sample GS01175-DNA_A04 from PGP sample 13272228
CGI sample GS00253-DNA_A01_200_37
var-GS19834-1100-36-ASM
var-GS19649-1100-36-ASM (hom)
var-GS18555-1100-36-ASM
CGI sample GS01669-DNA_B05 from PGP sample 86486261
var-GS19648-1100-36-ASM
CGI sample GS01669-DNA_D02 from PGP sample 27316983
CGI sample GS01669-DNA_H05 from PGP sample 10971581
CGI sample GS00253-DNA_B01_200_37
CGI sample GS00253-DNA_F01_200_37 (hom)
var-GS20502-1100-36-ASM
CGI sample GS01175-DNA_D01 from PGP sample 31286272
CGI sample GS00253-DNA_D01_200_37
var-GS18526-1100-36-ASM (hom)
var-GS18947-1100-36-ASM
var-GS19670-1100-36-ASM
CGI sample GS00253-DNA_A02_200_37
CGI sample GS01669-DNA_A04 from PGP sample 08188426
CGI sample GS01173-DNA_A07 from PGP sample 96240009
var-GS18940-1100-36-ASM
var-GS06985-1100-36-ASM (hom)
var-GS18956-1100-36-ASM
ABCA4 Y557Hinsufficiently evaluated not reviewedunknown
ABCA4 V567Minsufficiently evaluated none, f=0.008unknown

(1 web hit)

var-GS18956-1100-36-ASM
ABCA4 R572Qinsufficiently evaluated pathogenicrecessive

In a screen of the ABCR gene in 150 families with Stargardt disease, this variant appeared twice as a double mutant chromosome (with Y340D and G863A). This position is part of a CpG island and R572P was also seen once.

(20 web hits)

ABCA4 V643Minsufficiently evaluated not reviewed, f=0.007unknown var-GS18501-1100-36-ASM
ABCA4 I768Minsufficiently evaluated not reviewed, f=0.008unknown CGI sample GS00253-DNA_B02_200_37
ABCA4 W855Xinsufficiently evaluated pathogenicunknown

(8 web hits)

ABCA4 G863Apathogenic, f=0.005recessive

Various publications report this variant causes Stargardt Disease in a recessive manner, when combined with another more severe variant. Stargardt disease causes progressive vision loss and blindness.

(48 web hits)

CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01175-DNA_B05 from PGP sample 83494370
ABCA4 V931Minsufficiently evaluated pathogenic, f=0.002recessive

This variant is implicated in Stargardt Macular Dystrophy after it was found in a homozygous fashion in an individual from Saudi Arabia.

(12 web hits)

ABCA4 C941Yinsufficiently evaluated not reviewedunknown
ABCA4 R943Quncertain benign, f=0.032unknown

This is a polymorphism in a gene associated with Stargardt disease. Although it has a slight detectable effect in functional study, it is common in control groups and is not believed to have any significant pathogenic effect.

(40 web hits)

CGI sample GS01175-DNA_G03 from PGP sample 92527586 (hom)
CGI sample GS01173-DNA_F02 from PGP sample 70008981
CGI sample GS01175-DNA_B05 from PGP sample 83494370
var-GS12004-1100-36-ASM
CGI sample GS00253-DNA_G01_200_37
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS00253-DNA_F01_200_37
CGI sample GS01175-DNA_F02 from PGP sample 95788191
ABCA4 A1028Vinsufficiently evaluated pathogenicunknown

(4 web hits)

ABCA4 E1036Kinsufficiently evaluated pathogenicunknown

(6 web hits)

ABCA4 A1038Vinsufficiently evaluated pathogenic, f=0.002unknown

(84 web hits)

ABCA4 G1183Cinsufficiently evaluated none, f=0.000unknown var-GS18555-1100-36-ASM
ABCA4 L1201Rinsufficiently evaluated pathogenic, f=0.033recessive

There is weak evidence for this variant being associated with Stargardt disease.

(8 web hits)

var-GS18502-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS18517-1100-36-ASM
ABCA4 R1300Qinsufficiently evaluated none, f=0.022unknown

(6 web hits)

var-GS18501-1100-36-ASM
var-GS19129-1100-36-ASM
var-GS19026-1100-36-ASM (hom)
ABCA4 P1380Lpathogenic, f=0.000recessive

Reported to cause Stargardt Disease in a recessive manner, leading to progressive vision lose and eventual blindness. Speculated to be associated with age-related macular degeneration.

(28 web hits)

ABCA4 V1433Iinsufficiently evaluated pathogenic, f=0.002recessive

This variant was implicated in causing Stargardt Disease (progressive vision loss) in one family (in a screen of 150 with the disease), in a recessive manner. Other variants in this disease are associated with this disease but evidence supporting this particular variant is weak, possibly because this variant is very rare.

(13 web hits)

var-GS18956-1100-36-ASM
ABCA4 T1463Sinsufficiently evaluated not reviewedunknown
ABCA4 R1489Sinsufficiently evaluated not reviewed, f=0.001unknown var-GS19834-1100-36-ASM
ABCA4 C1502Xinsufficiently evaluated pathogenicunknown

Mentioned in a single publication as associated with Stargardt disease, though available literature mentions modifying it to C1502R to “reflect the primary sequence change of the corresponding C1477R mutant in ABCA1 linked to Tangier disease”.

ABCA4 G1578Rinsufficiently evaluated not reviewed, f=0.000unknown CGI sample GS00253-DNA_C01_200_37
ABCA4 G1591Rinsufficiently evaluated not reviewedunknown CGI sample GS01669-DNA_B05 from PGP sample 86486261
ABCA4 E1666Dinsufficiently evaluated not reviewed, f=0.008unknown var-GS19649-1100-36-ASM
ABCA4 A1762Dinsufficiently evaluated pathogenicunknown

(5 web hits)

ABCA4 P1780Apathogenic, f=0.000recessive

Reported to have caused Stargardt disease (progressive vision loss and blindness) in a recessive manner when seen in a single compound heterozygous case, but insufficient data makes it impossible to determine the significance of this report.

(2 web hits)

CGI sample GS00253-DNA_C01_200_37
ABCA4 H1865Yinsufficiently evaluated not reviewed, f=0.008unknown var-GS18940-1100-36-ASM
ABCA4 N1868Iinsufficiently evaluated none, f=0.047unknown

(15 web hits)

hu34D5B9 exome
CGI sample GS01175-DNA_D05 from PGP sample 1205491
CGI sample GS01173-DNA_B02 from PGP sample 94378523
ABCA4 L1940Pinsufficiently evaluated pathogenicunknown

(14 web hits)

ABCA4 G1961Epathogenic, f=0.003recessive

This rare variant causes Stargardt Disease in a recessive manner. It was hypothesized to increase susceptibility to age-related macular degeneration, but subsequent studies have contradicted this hypothesis.

(143 web hits)

CGI sample GS000005532
ABCA4 L1970Funcertain benign, f=0.004recessive

Reported to cause Stargardt disease in a recessive manner, causing juvenile macular degeneration and vision loss. This effect is recorded in ClinVar by OMIM, and comes from Rozet et al 1998 (PMID: 9781034), who reported seeing this variant compound heterozygous in a patient from of 55 affected families. However, in ExAC data, this variant has an allele frequency of 0.42% of European ancestry – which means 1 in 118 individuals are carriers. An observation of 1 in 55 is likely a chance observation; a causal variant should be more significantly enriched in patients. In contrast, Rivera et al 2000 (PMID: 10958763) reported no enrichment for this variant in patients. (c.f. ABCA4 Ala1038Val, which ExAC reports 0.42% frequency in Europeans, had an allele frequency of 9% in Rivera et al’s patients.)

(20 web hits)

ABCA4 L1971Rinsufficiently evaluated pathogenicunknown

(6 web hits)

ABCA4 L2027Finsufficiently evaluated pathogenic, f=0.000unknown

(33 web hits)

ABCA4 R2030Xinsufficiently evaluated pathogenicunknown

(4 web hits)

ABCA4 V2050Lpathogenic, f=0.004recessive

Reported to cause Stargardt Disease (progressive vision loss) in a recessive manner.

(20 web hits)

CGI sample GS01669-DNA_B03 from PGP sample 14427241
ABCA4 D2177Ninsufficiently evaluated pathogenic, f=0.009unknown

(66 web hits)

var-GS19703-1100-36-ASM
CGI sample GS01173-DNA_A07 from PGP sample 96240009
ABCA4 V2236Ainsufficiently evaluated not reviewedunknown
ABCA4 S2255Iinsufficiently evaluated none, f=0.190unknown

(21 web hits)

CGI sample GS01669-DNA_C07 from PGP sample 74521372
var-GS19025-1100-36-ASM
CGI sample GS01669-DNA_F02 from PGP sample 40767107
var-GS19020-1100-36-ASM
var-GS19700-1100-36-ASM
var-GS18501-1100-36-ASM (hom)
CGI sample GS000005532
var-GS19703-1100-36-ASM
CGI sample GS01669-DNA_B03 from PGP sample 14427241
var-GS19701-1100-36-ASM (hom)
CGI sample GS01173-DNA_D06 from PGP sample 69488604
var-GS19834-1100-36-ASM
var-GS18502-1100-36-ASM
CGI sample GS01669-DNA_H05 from PGP sample 10971581
var-GS19129-1100-36-ASM
var-GS19240-1100-36-ASM
var-GS18505-1100-36-ASM
var-GS19238-1100-36-ASM
var-GS18517-1100-36-ASM
CGI sample GS01175-DNA_D03 from PGP sample 27486199
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Total results: 49

Gene search

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