ClinVar for MedGen (Select 400996) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26644961.	NM_000350.3(ABCA4):c.6386+4A>G GRCh37: Chr1:94466554 GRCh38: Chr1:94000998	ABCA4		Retinitis pigmentosa 19	Likely pathogenic (Nov 10, 2023)	no assertion criteria provided
Select item 26642612.	NM_000350.3(ABCA4):c.3286_3287del (p.Ser1096fs) GRCh37: Chr1:94508358-94508359 GRCh38: Chr1:94042802-94042803	ABCA4	S1096fs	Retinitis pigmentosa 19	Pathogenic (Nov 10, 2023)	no assertion criteria provided
Select item 26642603.	NM_000350.3(ABCA4):c.2261T>C (p.Phe754Ser) GRCh37: Chr1:94522278 GRCh38: Chr1:94056722	ABCA4	F754S	Retinitis pigmentosa 19	Likely pathogenic (Nov 10, 2023)	no assertion criteria provided
Select item 24127064.	NM_000350.3(ABCA4):c.5637del (p.Phe1880fs) GRCh37: Chr1:94476433 GRCh38: Chr1:94010877	ABCA4	F1880fs	Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19	Pathogenic/Likely pathogenic (Jan 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 17043035.	NM_000350.3(ABCA4):c.1698C>G (p.His566Gln) GRCh37: Chr1:94528730 GRCh38: Chr1:94063174	ABCA4	H566Q	Retinitis pigmentosa 19	Pathogenic (Jan 23, 2019)	criteria provided, single submitter
Select item 15241826.	NM_000350.3(ABCA4):c.5209G>A (p.Val1737Met) GRCh37: Chr1:94481398 GRCh38: Chr1:94015842	ABCA4	V1737M	not provided, Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2, Cone-rod dystrophy 3, Retinitis pigmentosa 19	Uncertain significance (Jul 5, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14885107.	NM_000350.3(ABCA4):c.6560A>G (p.Gln2187Arg) GRCh37: Chr1:94463586 GRCh38: Chr1:93998030	ABCA4	Q2187R	Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2, Cone-rod dystrophy 3, Retinitis pigmentosa 19, not provided	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13334458.	NM_000350.3(ABCA4):c.3814-2A>T GRCh37: Chr1:94502346 GRCh38: Chr1:94036790	ABCA4, LOC126805794		Retinitis pigmentosa 19	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 13122479.	NM_000350.3(ABCA4):c.6379T>C (p.Ser2127Pro) GRCh37: Chr1:94466565 GRCh38: Chr1:94001009	ABCA4	S2127P	Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2, Retinitis pigmentosa 19, Cone-rod dystrophy 3, not provided	Uncertain significance (Oct 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 121384010.	NM_000350.3(ABCA4):c.4849-8C>G GRCh37: Chr1:94486973 GRCh38: Chr1:94021417	ABCA4, LOC126805793		Retinitis pigmentosa 19	Uncertain significance (May 31, 2021)	criteria provided, single submitter
Select item 121383911.	NM_000350.3(ABCA4):c.2576_2579dup (p.Phe861fs) GRCh37: Chr1:94520674-94520675 GRCh38: Chr1:94055118-94055119	ABCA4	F861fs	Retinitis pigmentosa 19	Pathogenic (May 31, 2021)	criteria provided, single submitter
Select item 118898312.	NM_000350.3(ABCA4):c.4352+54A>G GRCh37: Chr1:94495930 GRCh38: Chr1:94030374	ABCA4		Age related macular degeneration 2, Retinitis pigmentosa 19, Cone-rod dystrophy 3, not provided, Severe early-childhood-onset retinal dystrophy	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118884513.	NM_000350.3(ABCA4):c.1240-65del GRCh37: Chr1:94544327 GRCh38: Chr1:94078771	ABCA4		Age related macular degeneration 2, Cone-rod dystrophy 3, Retinitis pigmentosa 19, not provided, Severe early-childhood-onset retinal dystrophy	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 118449714.	NM_000350.3(ABCA4):c.5646G>T (p.Met1882Ile) GRCh37: Chr1:94476424 GRCh38: Chr1:94010868	ABCA4	M1882I	not provided	Pathogenic (Feb 4, 2022)	criteria provided, single submitter
Select item 105836515.	NM_000350.3(ABCA4):c.320G>A (p.Arg107Gln) GRCh37: Chr1:94574255 GRCh38: Chr1:94108699	ABCA4	R107Q	Age related macular degeneration 2, Retinitis pigmentosa 19, Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy, not provided	Conflicting interpretations of pathogenicity (Jun 20, 2022)	criteria provided, conflicting interpretations
Select item 104813416.	NM_000350.3(ABCA4):c.[5461-10T>C;5603A>T] GRCh37: Chr1:94476951 Chr1:94476467 GRCh38: Chr1:94011395 Chr1:94010911	ABCA4, ABCA4	N1868I	Severe early-childhood-onset retinal dystrophy	Likely pathogenic (Jan 30, 2021)	criteria provided, single submitter
Select item 104813217.	NM_000350.3(ABCA4):c.[2588G>C;5603A>T] GRCh37: Chr1:94517254 Chr1:94476467 GRCh38: Chr1:94051698 Chr1:94010911	ABCA4, ABCA4	G863A, N1868I	Severe early-childhood-onset retinal dystrophy	Likely pathogenic (Jan 30, 2021)	criteria provided, single submitter
Select item 104813118.	NM_000350.3(ABCA4):c.[5603A>T;5714+5G>A] GRCh37: Chr1:94476467 Chr1:94476351 GRCh38: Chr1:94010911 Chr1:94010795	ABCA4, ABCA4	N1868I	Severe early-childhood-onset retinal dystrophy	Likely pathogenic (Jan 30, 2021)	criteria provided, single submitter
Select item 104812619.	NM_000350.3(ABCA4):c.[3322C>T;6320G>A] GRCh37: Chr1:94508323 Chr1:94466624 GRCh38: Chr1:94042767 Chr1:94001068	ABCA4, ABCA4	R1108C, R2107H	Severe early-childhood-onset retinal dystrophy	Likely pathogenic (Jan 30, 2021)	criteria provided, single submitter
Select item 102377620.	NM_000350.3(ABCA4):c.2828G>T (p.Arg943Leu) GRCh37: Chr1:94512565 GRCh38: Chr1:94047009	ABCA4	R943L	not provided, Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3, Retinitis pigmentosa 19	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 100378421.	NM_000350.3(ABCA4):c.3076T>C (p.Phe1026Leu) GRCh37: Chr1:94509006 GRCh38: Chr1:94043450	ABCA4	F1026L	Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3, Age related macular degeneration 2, Retinitis pigmentosa 19, not provided	Uncertain significance (Sep 23, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96858822.	NM_000350.3(ABCA4):c.766G>T (p.Val256Leu) GRCh37: Chr1:94564352 GRCh38: Chr1:94098796	ABCA4	V256L	not provided, Age related macular degeneration 2, Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19	Uncertain significance (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 96771223.	NM_000350.3(ABCA4):c.5959_5964delinsTG (p.Thr1986_Gly1987insTer) GRCh37: Chr1:94473231-94473236 GRCh38: Chr1:94007675-94007680	ABCA4		not provided, Age related macular degeneration 2, Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19	Pathogenic/Likely pathogenic (Jun 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93717924.	NM_000350.3(ABCA4):c.303-3C>T GRCh37: Chr1:94574275 GRCh38: Chr1:94108719	ABCA4		Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2, Cone-rod dystrophy 3, Retinitis pigmentosa 19, not provided	Uncertain significance (Aug 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87469925.	NM_000350.3(ABCA4):c.6805C>T (p.Arg2269Ter) GRCh37: Chr1:94461676 GRCh38: Chr1:93996120	ABCA4	R2269*	Retinitis pigmentosa 19, Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3, not provided, ABCA4-Related Disorders	Uncertain significance (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86649226.	NM_000350.3(ABCA4):c.2576A>G (p.Gln859Arg) GRCh37: Chr1:94520678 GRCh38: Chr1:94055122	ABCA4	Q859R	Retinal dystrophy, Cone-rod dystrophy 3, Age related macular degeneration 2, Retinitis pigmentosa 19, Severe early-childhood-onset retinal dystrophy, not provided	Uncertain significance (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86604527.	NM_000350.3(ABCA4):c.4765G>A (p.Val1589Met) GRCh37: Chr1:94487410 GRCh38: Chr1:94021854	ABCA4, LOC126805793	V1589M	Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3, Retinitis pigmentosa 19, Retinal dystrophy, not provided	Uncertain significance (Jun 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 86583028.	NM_000350.3(ABCA4):c.3416A>G (p.Tyr1139Cys) GRCh37: Chr1:94506871 GRCh38: Chr1:94041315	ABCA4	Y1139C	Retinal dystrophy, Cone-rod dystrophy 3, Age related macular degeneration 2, Retinitis pigmentosa 19, Severe early-childhood-onset retinal dystrophy, not provided	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 84948029.	NM_000350.3(ABCA4):c.1792G>A (p.Val598Met) GRCh37: Chr1:94528278 GRCh38: Chr1:94062722	ABCA4	V598M	Retinitis pigmentosa 19, Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2, Cone-rod dystrophy 3, not provided	Uncertain significance (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 83926330.	NM_000350.3(ABCA4):c.5383T>G (p.Leu1795Val) GRCh37: Chr1:94480176 GRCh38: Chr1:94014620	ABCA4	L1795V	Retinitis pigmentosa 19, Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2, Cone-rod dystrophy 3, not provided, Retinitis pigmentosa	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81220831.	NM_000350.3(ABCA4):c.834del (p.Asp279fs) GRCh37: Chr1:94548932 GRCh38: Chr1:94083376	ABCA4	D279fs	not provided, Retinal dystrophy	Pathogenic (Oct 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 81219232.	NM_000350.3(ABCA4):c.[1531C>T;872C>T] GRCh37: Chr1:94546261 Chr1:94543269 GRCh38: Chr1:94080705 Chr1:94077713	ABCA4, ABCA4	P291L, R511C	maculopathy	Likely pathogenic (Jun 23, 2019)	no assertion criteria provided
Select item 68973633.	NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val) GRCh37: Chr1:94467475 GRCh38: Chr1:94001919	ABCA4	G2074V	Cone-rod dystrophy 3, Retinal dystrophy, Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3, Retinitis pigmentosa 19, Severe early-childhood-onset retinal dystrophy, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 67875734.	NM_000350.3(ABCA4):c.4128+156C>T GRCh37: Chr1:94497178 GRCh38: Chr1:94031622	ABCA4		Age related macular degeneration 2, Retinitis pigmentosa 19, not provided, Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 63515435.	NM_000350.2(ABCA4):c.[5512C>G;5882G>A] GRCh37: Chr1:94473807 Chr1:94476890 GRCh38: Chr1:94008251 Chr1:94011334	ABCA4, ABCA4	G1961E, H1838D	Stargardt disease	Pathogenic (Dec 13, 2017)	no assertion criteria provided
Select item 54660036.	NM_000350.3(ABCA4):c.4417C>A (p.Leu1473Met) GRCh37: Chr1:94495123 GRCh38: Chr1:94029567	ABCA4	L1473M	not specified, not provided, Retinitis pigmentosa 19, Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3	Conflicting interpretations of pathogenicity (Sep 4, 2022)	criteria provided, conflicting interpretations
Select item 49793637.	NM_000350.3(ABCA4):c.4715C>T (p.Thr1572Met) GRCh37: Chr1:94487460 GRCh38: Chr1:94021904	ABCA4, LOC126805793	T1572M	Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19, Age related macular degeneration 2, Cone-rod dystrophy 3, not provided, Retinal dystrophy	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49705738.	NM_000350.3(ABCA4):c.3608G>A (p.Gly1203Glu) GRCh37: Chr1:94502906 GRCh38: Chr1:94037350	ABCA4, LOC126805794	G1203E	Age related macular degeneration 2, ABCA4-Related Disorders, Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3, Age related macular degeneration 2, Retinitis pigmentosa 19, not specified, not provided, Retinitis pigmentosa 19	Conflicting interpretations of pathogenicity (May 19, 2023)	criteria provided, conflicting interpretations
Select item 43810039.	NM_000350.3(ABCA4):c.5196+1137G>A GRCh37: Chr1:94484001 GRCh38: Chr1:94018445	ABCA4		Cone/cone-rod dystrophy, not provided, Retinal dystrophy, Retinitis pigmentosa 19	Pathogenic/Likely pathogenic (Jul 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 42711740.	NM_000350.3(ABCA4):c.4873C>T (p.His1625Tyr) GRCh37: Chr1:94486941 GRCh38: Chr1:94021385	ABCA4, LOC126805793	H1625Y	Retinitis pigmentosa 19, not provided	Pathogenic/Likely pathogenic (Jun 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 42476041.	NM_000350.2(ABCA4):c.[2588G>C];[5882G>A]			Severe early-childhood-onset retinal dystrophy	Pathogenic (Apr 9, 2013)	criteria provided, single submitter
Select item 37740642.	NM_000350.3(ABCA4):c.5572T>A (p.Tyr1858Asn) GRCh37: Chr1:94476830 GRCh38: Chr1:94011274	ABCA4	Y1858N	Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2, Retinitis pigmentosa 19, Cone-rod dystrophy 3, Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy, not provided	Pathogenic/Likely pathogenic (Mar 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37740243.	NM_000350.3(ABCA4):c.1531C>T (p.Arg511Cys) GRCh37: Chr1:94543269 GRCh38: Chr1:94077713	ABCA4	R511C	ABCA4-Related Disorders, Cone-rod dystrophy 3, Retinitis pigmentosa 19, Retinal dystrophy, not provided	Pathogenic/Likely pathogenic (Sep 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 37473744.	NM_000350.3(ABCA4):c.370C>T (p.Arg124Cys) GRCh37: Chr1:94574205 GRCh38: Chr1:94108649	ABCA4	R124C	Retinitis pigmentosa 19, Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2, not provided	Conflicting interpretations of pathogenicity (Sep 8, 2023)	criteria provided, conflicting interpretations
Select item 37228945.	NM_000350.3(ABCA4):c.1988G>A (p.Trp663Ter) GRCh37: Chr1:94526265 GRCh38: Chr1:94060709	ABCA4	W663*	not provided, Retinitis pigmentosa 19	Pathogenic/Likely pathogenic (Sep 1, 2021)	criteria provided, multiple submitters, no conflicts
Select item 37228846.	NM_000350.3(ABCA4):c.1834C>T (p.Gln612Ter) GRCh37: Chr1:94528236 GRCh38: Chr1:94062680	ABCA4	Q612*	not provided, Retinitis pigmentosa 19	Pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28683547.	NM_000350.3(ABCA4):c.2819C>G (p.Pro940Arg) GRCh37: Chr1:94512574 GRCh38: Chr1:94047018	ABCA4	P940R	Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19, Cone-rod dystrophy 3, ABCA4-Related Disorders, Retinal dystrophy, not provided	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28357348.	NM_000350.3(ABCA4):c.6729+5_6729+19del GRCh37: Chr1:94463398-94463412 GRCh38: Chr1:93997842-93997856	ABCA4		Age related macular degeneration 2, Retinitis pigmentosa 19, Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy, Retinal dystrophy, not provided	Pathogenic/Likely pathogenic (Oct 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26501249.	NM_000350.3(ABCA4):c.1906C>T (p.Gln636Ter) GRCh37: Chr1:94528164 GRCh38: Chr1:94062608	ABCA4	Q636*	Retinal dystrophy, not provided, Retinitis pigmentosa 19, Severe early-childhood-onset retinal dystrophy	Pathogenic (Jan 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 26501050.	NM_000350.3(ABCA4):c.838A>T (p.Met280Leu) GRCh37: Chr1:94548928 GRCh38: Chr1:94083372	ABCA4	M280L	Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3, Retinitis pigmentosa 19, not provided	Conflicting interpretations of pathogenicity (Oct 26, 2022)	criteria provided, conflicting interpretations
Select item 25592551.	NM_000350.3(ABCA4):c.5836-43C>A GRCh37: Chr1:94473896 GRCh38: Chr1:94008340	ABCA4		not specified, not provided, Age related macular degeneration 2, Cone-rod dystrophy 3, Retinitis pigmentosa 19, Severe early-childhood-onset retinal dystrophy	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 25592352.	NM_000350.3(ABCA4):c.4774-17_4774-16del GRCh37: Chr1:94487286-94487287 GRCh38: Chr1:94021730-94021731	ABCA4, LOC126805793		not specified, Retinitis pigmentosa 19, Cone-rod dystrophy 3, Retinitis Pigmentosa, Recessive, Cone-Rod Dystrophy, Recessive, Stargardt Disease, Recessive, Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy, Macular degeneration, not provided	Benign (Sep 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23614453.	NM_000350.3(ABCA4):c.6077T>C (p.Leu2026Pro) GRCh37: Chr1:94471067 GRCh38: Chr1:94005511	ABCA4	L2026P	not provided, Retinitis pigmentosa 19, Cone-rod dystrophy 3, Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy	Pathogenic/Likely pathogenic (Aug 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23612954.	NM_000350.3(ABCA4):c.5318C>T (p.Ala1773Val) GRCh37: Chr1:94480241 GRCh38: Chr1:94014685	ABCA4	A1773V	Cone-rod dystrophy 3, Age related macular degeneration 2, Retinitis pigmentosa 19, Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy, Retinal dystrophy, not provided, Stargardt disease	Pathogenic/Likely pathogenic (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23609255.	NM_000350.2(ABCA4):c.[2588G>C;5153T>G] GRCh37: Chr1:94517254 Chr1:94485181 GRCh38: Chr1:94051698 Chr1:94019625	ABCA4, ABCA4	G863A, V1718G	Severe early-childhood-onset retinal dystrophy	Pathogenic (Jan 1, 2016)	criteria provided, single submitter
Select item 23609156.	NM_000350.2(ABCA4):c.[2588G>C;3289A>T] GRCh37: Chr1:94517254 Chr1:94508356 GRCh38: Chr1:94051698 Chr1:94042800	ABCA4, ABCA4	G863A, R1097*	Severe early-childhood-onset retinal dystrophy	Pathogenic (Jan 1, 2016)	criteria provided, single submitter
Select item 23609057.	NM_000350.3(ABCA4):c.2160+1G>T GRCh37: Chr1:94526092 GRCh38: Chr1:94060536	ABCA4		Retinitis pigmentosa 19, not provided, Retinal dystrophy, Severe early-childhood-onset retinal dystrophy	Pathogenic/Likely pathogenic (Aug 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23607758.	NM_000350.3(ABCA4):c.1009T>C (p.Phe337Leu) GRCh37: Chr1:94546124 GRCh38: Chr1:94080568	ABCA4	F337L	Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19, Cone-rod dystrophy 3, Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy	Uncertain significance (Jan 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 23607159.	NM_000350.3(ABCA4):c.160T>G (p.Cys54Gly) GRCh37: Chr1:94578529 GRCh38: Chr1:94112973	ABCA4	C54G	Retinitis pigmentosa 19, Cone-rod dystrophy 3, Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy	Likely pathogenic (Dec 7, 2021)	criteria provided, multiple submitters, no conflicts
Select item 23606860.	NM_000350.2(ABCA4):c.[1A>G;6089G>A] GRCh37: Chr1:94586601 Chr1:94471055 GRCh38: Chr1:94121045 Chr1:94005499	ABCA4, ABCA4	M1V, R2030Q	Severe early-childhood-onset retinal dystrophy	Pathogenic (Jan 1, 2016)	criteria provided, single submitter
Select item 21272761.	NM_000350.3(ABCA4):c.1964T>G (p.Phe655Cys) GRCh37: Chr1:94526289 GRCh38: Chr1:94060733	ABCA4	F655C	Retinal dystrophy, Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3, Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19, not provided, Severe early-childhood-onset retinal dystrophy	Pathogenic/Likely pathogenic (Sep 20, 2023)	criteria provided, multiple submitters, no conflicts
Select item 16661862.	NM_000350.3(ABCA4):c.141A>G (p.Pro47=) GRCh37: Chr1:94578548 GRCh38: Chr1:94112992	ABCA4		not specified, not provided, Age related macular degeneration 2, Cone-rod dystrophy 3, Retinitis pigmentosa 19, Severe early-childhood-onset retinal dystrophy	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 14307663.	NM_000350.3(ABCA4):c.6119G>A (p.Arg2040Gln) GRCh37: Chr1:94471025 GRCh38: Chr1:94005469	ABCA4	R2040Q	Retinal dystrophy, not provided, Severe early-childhood-onset retinal dystrophy	Pathogenic/Likely pathogenic (Jul 23, 2023)	criteria provided, multiple submitters, no conflicts
Select item 13623564.	NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) GRCh37: Chr1:94471075 GRCh38: Chr1:94005519	ABCA4		Cone-Rod Dystrophy, Recessive, Stargardt Disease, Recessive, ABCA4-Related Disorders, Retinitis Pigmentosa, Recessive, not specified, not provided, Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2, Cone-rod dystrophy 3, Retinitis pigmentosa 19, Macular degeneration ...see more	Benign (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 13623465.	NM_000350.3(ABCA4):c.5844A>G (p.Pro1948=) GRCh37: Chr1:94473845 GRCh38: Chr1:94008289	ABCA4		Cone-Rod Dystrophy, Recessive, Stargardt Disease, Recessive, ABCA4-Related Disorders, Retinitis Pigmentosa, Recessive, not specified, not provided, Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3, Retinitis pigmentosa 19, Macular degeneration ...see more	Benign/Likely benign (Oct 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9950566.	NM_000350.3(ABCA4):c.768G>T (p.Val256=) GRCh37: Chr1:94564350 GRCh38: Chr1:94098794	ABCA4		ABCA4-related condition, Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3, Age related macular degeneration 2, Retinitis pigmentosa 19, Retinal dystrophy, not provided, Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3	Pathogenic/Likely pathogenic (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9949467.	NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) GRCh37: Chr1:94461717 GRCh38: Chr1:93996161	ABCA4	S2255I	Stargardt Disease, Recessive, Cone-Rod Dystrophy, Recessive, Retinitis Pigmentosa, Recessive, ABCA4-Related Disorders, Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3, Age related macular degeneration 2, Retinitis pigmentosa 19, not provided, not specified, Macular degeneration ...see more	Benign (Oct 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9949168.	NM_000350.3(ABCA4):c.6730-3T>C GRCh37: Chr1:94461754 GRCh38: Chr1:93996198	ABCA4		Stargardt Disease, Recessive, Cone-Rod Dystrophy, Recessive, Retinitis Pigmentosa, Recessive, ABCA4-Related Disorders, Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2, Retinitis pigmentosa 19, not specified, not provided, Macular degeneration ...see more	Benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9947869.	NM_000350.3(ABCA4):c.666_678del (p.Lys223fs) GRCh37: Chr1:94564440-94564452 GRCh38: Chr1:94098884-94098896	ABCA4	K223fs	Retinal dystrophy, not provided, Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19	Pathogenic (Jan 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9947670.	NM_000350.3(ABCA4):c.6658C>T (p.Gln2220Ter) GRCh37: Chr1:94463488 GRCh38: Chr1:93997932	ABCA4	Q2220*	ABCA4-related condition, not provided, Retinitis pigmentosa 19, Severe early-childhood-onset retinal dystrophy	Pathogenic/Likely pathogenic (May 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9947171.	NM_000350.3(ABCA4):c.658C>T (p.Arg220Cys) GRCh37: Chr1:94564460 GRCh38: Chr1:94098904	ABCA4	R220C	Retinitis pigmentosa 19, Cone-rod dystrophy 3, Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy, not provided, Severe early-childhood-onset retinal dystrophy	Pathogenic/Likely pathogenic (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9945672.	NM_000350.3(ABCA4):c.6386+2C>G GRCh37: Chr1:94466556 GRCh38: Chr1:94001000	ABCA4		not provided, Retinitis pigmentosa 19, Severe early-childhood-onset retinal dystrophy	Pathogenic (May 2, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9945273.	NM_000350.3(ABCA4):c.6342G>A (p.Val2114=) GRCh37: Chr1:94466602 GRCh38: Chr1:94001046	ABCA4		ABCA4-related condition, Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3, Age related macular degeneration 2, Retinitis pigmentosa 19, Retinal dystrophy, not provided, Severe early-childhood-onset retinal dystrophy	Pathogenic/Likely pathogenic (Apr 3, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9944374.	NM_000350.3(ABCA4):c.6282+7G>A GRCh37: Chr1:94467407 GRCh38: Chr1:94001851	ABCA4		ABCA4-Related Disorders, Stargardt Disease, Recessive, Cone-Rod Dystrophy, Recessive, Retinitis Pigmentosa, Recessive, Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3, Age related macular degeneration 2, Retinitis pigmentosa 19, not specified, not provided, Macular degeneration ...see more	Benign/Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9944075.	NM_000350.3(ABCA4):c.6249C>T (p.Ile2083=) GRCh37: Chr1:94467447 GRCh38: Chr1:94001891	ABCA4		Stargardt Disease, Recessive, Cone-Rod Dystrophy, Recessive, Retinitis Pigmentosa, Recessive, ABCA4-Related Disorders, Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2, Retinitis pigmentosa 19, not specified, not provided, Macular degeneration ...see more	Benign/Likely benign (Oct 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9943376.	NM_000350.3(ABCA4):c.6179T>G (p.Leu2060Arg) GRCh37: Chr1:94467517 GRCh38: Chr1:94001961	ABCA4	L2060R	Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2, Retinitis pigmentosa 19, not provided	Pathogenic (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9943177.	NM_000350.3(ABCA4):c.6118C>T (p.Arg2040Ter) GRCh37: Chr1:94471026 GRCh38: Chr1:94005470	ABCA4	R2040*	Retinitis pigmentosa 19, Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2, Retinal dystrophy, Severe early-childhood-onset retinal dystrophy, not provided	Pathogenic (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9942878.	NM_000350.3(ABCA4):c.6089G>A (p.Arg2030Gln) GRCh37: Chr1:94471055 GRCh38: Chr1:94005499	ABCA4	R2030Q	ABCA4-related condition, Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3, Age related macular degeneration 2, Retinitis pigmentosa 19, Retinal dystrophy, not provided, Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy	Pathogenic/Likely pathogenic (Jun 6, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9942679.	NM_000350.3(ABCA4):c.6006-16G>A GRCh37: Chr1:94471154 GRCh38: Chr1:94005598	ABCA4		not specified, not provided, Retinitis pigmentosa 19, Cone-rod dystrophy 3, Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy	Benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9941980.	NM_000350.3(ABCA4):c.5917del (p.Gly1972_Val1973insTer) GRCh37: Chr1:94473278 GRCh38: Chr1:94007722	ABCA4		not provided, Retinitis pigmentosa 19, Cone/cone-rod dystrophy, Severe early-childhood-onset retinal dystrophy, Retinal dystrophy	Pathogenic (Jan 25, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9940881.	NM_000350.3(ABCA4):c.5836-11G>A GRCh37: Chr1:94473864 GRCh38: Chr1:94008308	ABCA4		ABCA4-Related Disorders, Stargardt Disease, Recessive, Cone-Rod Dystrophy, Recessive, Retinitis Pigmentosa, Recessive, Retinitis pigmentosa 19, Cone-rod dystrophy 3, not provided, Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy, not specified, Macular degeneration ...see more	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9940782.	NM_000350.3(ABCA4):c.5814A>G (p.Leu1938=) GRCh37: Chr1:94474328 GRCh38: Chr1:94008772	ABCA4		Stargardt Disease, Recessive, Cone-Rod Dystrophy, Recessive, Retinitis Pigmentosa, Recessive, ABCA4-Related Disorders, not specified, not provided, Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2, Retinitis pigmentosa 19, Cone-rod dystrophy 3, Macular degeneration ...see more	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9940483.	NM_000350.3(ABCA4):c.5715-25A>C GRCh37: Chr1:94474452 GRCh38: Chr1:94008896	ABCA4		not specified, not provided, Age related macular degeneration 2, Retinitis pigmentosa 19, Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9940384.	NM_000350.3(ABCA4):c.5714+5G>A GRCh37: Chr1:94476351 GRCh38: Chr1:94010795	ABCA4		ABCA4-Related Disorders, Retinal dystrophy, Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3, Age related macular degeneration 2, Retinitis pigmentosa 19, not provided, Stargardt disease, Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2, Retinitis pigmentosa 19 ...see more	Pathogenic/Likely pathogenic (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9939685.	NM_000350.3(ABCA4):c.5682G>C (p.Leu1894=) GRCh37: Chr1:94476388 GRCh38: Chr1:94010832	ABCA4		ABCA4-Related Disorders, Stargardt Disease, Recessive, Cone-Rod Dystrophy, Recessive, Retinitis Pigmentosa, Recessive, not specified, not provided, Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2, Retinitis pigmentosa 19, Cone-rod dystrophy 3, Macular degeneration ...see more	Benign/Likely benign (Nov 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9938986.	NM_000350.3(ABCA4):c.5585-70C>T GRCh37: Chr1:94476555 GRCh38: Chr1:94010999	ABCA4		not provided, Age related macular degeneration 2, Retinitis pigmentosa 19, Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy	Benign (Jul 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9934487.	NM_000350.3(ABCA4):c.5087G>A (p.Ser1696Asn) GRCh37: Chr1:94485247 GRCh38: Chr1:94019691	ABCA4	S1696N	Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2, Retinitis pigmentosa 19, not provided, Severe early-childhood-onset retinal dystrophy	Pathogenic/Likely pathogenic (Aug 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9934088.	NM_000350.3(ABCA4):c.5044_5058del (p.Val1682_Val1686del) GRCh37: Chr1:94485276-94485290 GRCh38: Chr1:94019720-94019734	ABCA4		Cone/cone-rod dystrophy, Retinal dystrophy, not provided, Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2, Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa 19, Stargardt disease	Pathogenic (Jul 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9933089.	NM_000350.3(ABCA4):c.4918C>T (p.Arg1640Trp) GRCh37: Chr1:94486896 GRCh38: Chr1:94021340	ABCA4, LOC126805793	R1640W	Retinal dystrophy, Retinitis pigmentosa 19, Cone-rod dystrophy 3, Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2, not provided, Severe early-childhood-onset retinal dystrophy, Stargardt disease	Pathogenic/Likely pathogenic; other (Jul 24, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9932190.	NM_000350.3(ABCA4):c.4793C>A (p.Ala1598Asp) GRCh37: Chr1:94487251 GRCh38: Chr1:94021695	ABCA4, LOC126805793	A1598D	not provided, Retinitis pigmentosa 19, Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa, Retinal dystrophy	Pathogenic/Likely pathogenic (Sep 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9931991.	NM_000350.3(ABCA4):c.4773+48C>T GRCh37: Chr1:94487354 GRCh38: Chr1:94021798	ABCA4, LOC126805793		not specified, not provided, Severe early-childhood-onset retinal dystrophy, Age related macular degeneration 2, Retinitis pigmentosa 19, Cone-rod dystrophy 3	Benign (Sep 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9931092.	NM_000350.3(ABCA4):c.466A>G (p.Ile156Val) GRCh37: Chr1:94568675 GRCh38: Chr1:94103119	ABCA4	I156V	ABCA4-Related Disorders, Inborn genetic diseases, Severe early-childhood-onset retinal dystrophy, Cone-rod dystrophy 3, Age related macular degeneration 2, Retinitis pigmentosa 19, not provided, Abnormal retinal morphology	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 9930493.	NM_000350.3(ABCA4):c.4594G>A (p.Asp1532Asn) GRCh37: Chr1:94490550 GRCh38: Chr1:94024994	ABCA4	D1532N	ABCA4-related condition, Retinal dystrophy, not provided, Retinitis pigmentosa, Severe early-childhood-onset retinal dystrophy	Pathogenic/Likely pathogenic (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9930394.	NM_000350.3(ABCA4):c.4577C>T (p.Thr1526Met) GRCh37: Chr1:94490567 GRCh38: Chr1:94025011	ABCA4	T1526M	Inborn genetic diseases, Retinal dystrophy, not provided, Severe early-childhood-onset retinal dystrophy	Pathogenic/Likely pathogenic (Jan 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9929495.	NM_000350.3(ABCA4):c.4539+1G>T GRCh37: Chr1:94495000 GRCh38: Chr1:94029444	ABCA4		not provided, Retinitis pigmentosa	Pathogenic (Aug 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9929296.	NM_000350.3(ABCA4):c.4537dup (p.Gln1513fs) GRCh37: Chr1:94495002-94495003 GRCh38: Chr1:94029446-94029447	ABCA4	Q1513fs	Retinal dystrophy, not provided, Cone-rod dystrophy 3	Pathogenic (Oct 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9928897.	NM_000350.3(ABCA4):c.4469G>A (p.Cys1490Tyr) GRCh37: Chr1:94495071 GRCh38: Chr1:94029515	ABCA4	C1490Y	Retinitis pigmentosa 19, ABCA4-Related Disorders, not provided, Severe early-childhood-onset retinal dystrophy, Abnormal retinal morphology, Retinal dystrophy	Pathogenic (Oct 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9928498.	NM_000350.3(ABCA4):c.4462T>C (p.Cys1488Arg) GRCh37: Chr1:94495078 GRCh38: Chr1:94029522	ABCA4	C1488R	Retinitis pigmentosa 19, Cone-rod dystrophy 3, Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy, not provided, Retinitis pigmentosa 19, Retinal dystrophy, Severe early-childhood-onset retinal dystrophy	Pathogenic/Likely pathogenic (Apr 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 9928399.	NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) GRCh37: Chr1:94495083 GRCh38: Chr1:94029527	ABCA4	P1486L	Retinal dystrophy, not provided, Age related macular degeneration 2, Retinitis pigmentosa 19, Cone-rod dystrophy 3, Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy, Severe early-childhood-onset retinal dystrophy	Pathogenic/Likely pathogenic (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99263100.	NM_000350.3(ABCA4):c.4234C>T (p.Gln1412Ter) GRCh37: Chr1:94496571 GRCh38: Chr1:94031015	ABCA4	Q1412*	Retinitis pigmentosa 19, Cone-rod dystrophy 3, Age related macular degeneration 2, Severe early-childhood-onset retinal dystrophy, not provided, Severe early-childhood-onset retinal dystrophy, Retinitis pigmentosa, Retinal dystrophy	Pathogenic (Aug 1, 2023)	criteria provided, multiple submitters, no conflicts

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