Related gene-specific medical variations for Gene (Select 24) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359855	NM_000350.3(ABCA4):c.1645G>T (p.Ala549Ser)	ABCA4 (A549S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338127	NM_000350.3(ABCA4):c.4254-17T>A	ABCA4	Single nucleotide variant (intron variant)	Visual impairment	GLikely pathogenic
Select item 3247891	NC_000001.10:g.(?_94483475)_(94488958_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3247890	NC_000001.10:g.(?_94525884)_(94528259_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3247889	NC_000001.10:g.(?_94564009)_(94564419_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3247888	NC_000001.10:g.(?_94458738)_(94505703_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3247887	NC_000001.10:g.(?_94506745)_(94517274_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3247886	NC_000001.10:g.(?_94530866)_(94544327_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3247883	NC_000001.10:g.(?_94568551)_(94568718_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3247882	NC_000001.10:g.(?_94520647)_(94520891_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3247881	NC_000001.10:g.(?_94528648)_(94528893_?)del	ABCA4	Deletion	not provided	GPathogenic
Select item 3238643	NM_000350.3(ABCA4):c.4804del (p.Ile1602fs)	ABCA4, LOC126805793 (I1602fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 3237364	NM_000350.3(ABCA4):c.438del (p.Ile146fs)	ABCA4 (I146fs)	Deletion (frameshift variant)	Stargardt disease 3	GLikely pathogenic
Select item 3234697	NM_000350.3(ABCA4):c.3737T>A (p.Leu1246His)	ABCA4, LOC126805794 (L1172H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3101957	NM_000350.3(ABCA4):c.3723A>C (p.Arg1241Ser)	ABCA4, LOC126805794 (R1167S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3065861	NM_000350.3(ABCA4):c.6044G>T (p.Gly2015Val)	ABCA4 (G1941V +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 3027823	NM_000350.3(ABCA4):c.3613G>A (p.Val1205Ile)	ABCA4, LOC126805794 (V1131I +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027819	NM_000350.3(ABCA4):c.3625A>C (p.Met1209Leu)	ABCA4, LOC126805794 (M1135L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027812	NM_000350.3(ABCA4):c.3727T>G (p.Tyr1243Asp)	ABCA4, LOC126805794 (Y1169D +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027743	NM_000350.3(ABCA4):c.4700C>T (p.Pro1567Leu)	ABCA4, LOC126805793 (P1493L +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027739	NM_000350.3(ABCA4):c.4744G>A (p.Asp1582Asn)	ABCA4, LOC126805793 (D1508N +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3027729	NM_000350.3(ABCA4):c.4880T>C (p.Leu1627Pro)	ABCA4, LOC126805793 (L1553P +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 3027721	NM_000350.3(ABCA4):c.4907A>G (p.Asn1636Ser)	ABCA4, LOC126805793 (N1562S +1 more)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3009334	NM_000350.3(ABCA4):c.4929G>C (p.Leu1643=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3008230	NM_000350.3(ABCA4):c.4773+10C>T	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004003	NM_000350.3(ABCA4):c.3665T>C (p.Val1222Ala)	ABCA4, LOC126805794 (V1222A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003076	NM_000350.3(ABCA4):c.3814-23CT[2]	ABCA4, LOC126805794	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2998643	NM_000350.3(ABCA4):c.4725A>C (p.Ala1575=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997368	NM_000350.3(ABCA4):c.3654G>A (p.Glu1218=)	ABCA4, LOC126805794	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2993964	NM_000350.3(ABCA4):c.5018+7C>T	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2991469	NM_000350.3(ABCA4):c.4704C>T (p.Val1568=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985815	NM_000350.3(ABCA4):c.4791G>A (p.Glu1597=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2981199	NM_000350.3(ABCA4):c.4861A>T (p.Asn1621Tyr)	ABCA4, LOC126805793 (N1547Y +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2981177	NM_000350.3(ABCA4):c.4849-6C>T	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2970953	NM_000350.3(ABCA4):c.4848+16A>T	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2969184	NM_000350.3(ABCA4):c.4716G>A (p.Thr1572=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2967805	NM_000350.3(ABCA4):c.3608-12T>C	ABCA4, LOC126805794	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2962310	NM_000350.3(ABCA4):c.3814-5G>A	ABCA4, LOC126805794	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2959021	NM_000350.3(ABCA4):c.4776C>T (p.Gly1592=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2920621	NM_000350.3(ABCA4):c.2203del (p.Leu735fs)	ABCA4 (L735fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 2920610	NM_000350.3(ABCA4):c.5569_5570del (p.Val1857fs)	ABCA4 (V1857fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 2911171	NM_000350.3(ABCA4):c.3612T>C (p.Asp1204=)	ABCA4, LOC126805794	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910114	NM_000350.3(ABCA4):c.4854G>T (p.Trp1618Cys)	ABCA4, LOC126805793 (W1544C +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2907282	NM_000350.3(ABCA4):c.4762A>T (p.Asn1588Tyr)	ABCA4, LOC126805793 (N1514Y +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2881638	NM_000350.3(ABCA4):c.4703T>G (p.Val1568Gly)	ABCA4, LOC126805793 (V1494G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2880512	NM_000350.3(ABCA4):c.3732C>T (p.Ala1244=)	ABCA4, LOC126805794	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878537	NM_000350.3(ABCA4):c.3705T>C (p.Asn1235=)	ABCA4, LOC126805794	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878190	NM_000350.3(ABCA4):c.3690C>A (p.Ile1230=)	ABCA4, LOC126805794	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2870357	NM_000350.3(ABCA4):c.4737T>C (p.Phe1579=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2864246	NM_000350.3(ABCA4):c.5018+13A>G	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2863126	NM_000350.3(ABCA4):c.4764T>C (p.Asn1588=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2858544	NM_000350.3(ABCA4):c.4773+18del	ABCA4, LOC126805793	Deletion (intron variant)	not provided	GLikely benign
Select item 2855091	NM_000350.3(ABCA4):c.4878C>T (p.Ala1626=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2849937	NM_000350.3(ABCA4):c.3862+8G>A	ABCA4, LOC126805794	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2844431	NM_000350.3(ABCA4):c.5018+1G>T	ABCA4, LOC126805793	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2840905	NM_000350.3(ABCA4):c.3840T>C (p.Ser1280=)	ABCA4, LOC126805794	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2837141	NM_000350.3(ABCA4):c.4713C>A (p.Ile1571=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836045	NM_000350.3(ABCA4):c.4707C>T (p.Val1569=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2835316	NM_000350.3(ABCA4):c.4848+18A>T	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834522	NM_000350.3(ABCA4):c.4720del (p.Glu1574fs)	ABCA4, LOC126805793 (E1574fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2833724	NM_000350.3(ABCA4):c.5013T>A (p.Ile1671=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2832274	NM_000350.3(ABCA4):c.4918del (p.Arg1640fs)	ABCA4, LOC126805793 (R1640fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2832149	NM_000350.3(ABCA4):c.4774-15_4774-14dup	ABCA4, LOC126805793	Duplication (intron variant)	not provided	GLikely benign
Select item 2823581	NM_000350.3(ABCA4):c.3717G>A (p.Lys1239=)	ABCA4, LOC126805794	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818995	NM_000350.3(ABCA4):c.4764T>G (p.Asn1588Lys)	ABCA4, LOC126805793 (N1514K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814913	NM_000350.3(ABCA4):c.4719G>T (p.Gly1573=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2805512	NM_000350.3(ABCA4):c.3630T>C (p.Asp1210=)	LOC126805794, ABCA4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802117	NM_000350.3(ABCA4):c.4905C>T (p.His1635=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799215	NM_000350.3(ABCA4):c.4947C>G (p.Pro1649=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2797988	NM_000350.3(ABCA4):c.4774-11A>G	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2797873	NM_000350.3(ABCA4):c.4980C>A (p.Pro1660=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2795992	NM_000350.3(ABCA4):c.4686T>A (p.Ile1562=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2789037	NM_000350.3(ABCA4):c.3760C>T (p.Leu1254=)	ABCA4, LOC126805794	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787188	NM_000350.3(ABCA4):c.3852T>A (p.Pro1284=)	ABCA4, LOC126805794	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2784243	NM_000350.3(ABCA4):c.3862+11G>A	ABCA4, LOC126805794	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2779967	NM_000350.3(ABCA4):c.3862G>A (p.Gly1288Ser)	ABCA4, LOC126805794 (G1214S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2779890	NM_000350.3(ABCA4):c.3813+14T>C	ABCA4, LOC126805794	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2771256	NM_000350.3(ABCA4):c.4731T>C (p.Val1577=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768891	NM_000350.3(ABCA4):c.4809T>C (p.Pro1603=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2768157	NM_000350.3(ABCA4):c.3608-17C>A	ABCA4, LOC126805794	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767976	NM_000350.3(ABCA4):c.3690C>T (p.Ile1230=)	ABCA4, LOC126805794	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2766538	NM_000350.3(ABCA4):c.4720dup (p.Glu1574fs)	ABCA4, LOC126805793 (E1574fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2763243	NM_000350.3(ABCA4):c.4773+10C>G	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2751171	NM_000350.3(ABCA4):c.3758dup (p.Leu1254fs)	ABCA4, LOC126805794 (L1254fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2750618	NM_000350.3(ABCA4):c.4794C>A (p.Ala1598=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2733927	NM_000350.3(ABCA4):c.3655G>C (p.Ala1219Pro)	ABCA4, LOC126805794 (A1145P +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2708344	NM_000350.3(ABCA4):c.4858A>C (p.Asn1620His)	ABCA4, LOC126805793 (N1620H +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2706146	NM_000350.3(ABCA4):c.4773+17G>C	ABCA4, LOC126805793	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2705343	NM_000350.3(ABCA4):c.3814-19C>T	ABCA4, LOC126805794	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2695421	NM_000350.3(ABCA4):c.3804C>T (p.Pro1268=)	ABCA4, LOC126805794	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2694375	NM_000350.3(ABCA4):c.3693C>T (p.Phe1231=)	ABCA4, LOC126805794	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2692299	NM_000350.3(ABCA4):c.6454G>A (p.Gly2152Ser)	ABCA4 (G2078S +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GLikely pathogenic
Select item 2638930	NM_000350.3(ABCA4):c.4713C>T (p.Ile1571=)	ABCA4, LOC126805793	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2628018	NM_000350.3(ABCA4):c.3732del (p.Ser1245fs)	ABCA4, LOC126805794 (S1245fs)	Deletion (frameshift variant)	Severe early-childhood-onset retinal dystrophy	GPathogenic
Select item 2595178	NM_000350.3(ABCA4):c.4760T>C (p.Met1587Thr)	ABCA4, LOC126805793 (M1587T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2576023	NM_000350.3(ABCA4):c.769-5431G>A	ABCA4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2576022	NM_000350.3(ABCA4):c.67-2830C>T	ABCA4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2507033	NM_000350.3(ABCA4):c.4897G>A (p.Val1633Met)	ABCA4, LOC126805793 (V1633M +1 more)	Single nucleotide variant (missense variant)	Severe early-childhood-onset retinal dystrophy	GUncertain significance
Select item 2481015	NM_000350.3(ABCA4):c.3673A>T (p.Ile1225Phe)	ABCA4, LOC126805794 (I1225F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2440903	NM_000350.3(ABCA4):c.6198C>A (p.Cys2066Ter)	ABCA4 (C2066* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic

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