Related gene-specific medical variations for Gene (Select 10461) - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247538	NC_000002.11:g.(?_112767580)_(112770634_?)del	MERTK	Deletion	not provided	GPathogenic
Select item 3247537	NC_000002.11:g.(?_112725694)_(112740590_?)del	MERTK	Deletion	not provided	GPathogenic
Select item 3247536	NC_000002.11:g.(?_112656313)_(112733069_?)del	MERTK	Deletion	not provided	GPathogenic
Select item 3065494	NM_006343.3(MERTK):c.2227G>A (p.Gly743Ser)	MERTK (G743S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38	GLikely pathogenic
Select item 3064130	NM_006343.3(MERTK):c.2189T>G (p.Met730Arg)	MERTK (M730R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38	GUncertain significance
Select item 3028872	NM_006343.3(MERTK):c.989G>A (p.Gly330Asp)	LOC112806037, MERTK (G330D)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028871	NM_006343.3(MERTK):c.978G>A (p.Pro326=)	LOC112806037, MERTK	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 2998076	NM_006343.3(MERTK):c.1008C>T (p.Asn336=)	LOC112806037, MERTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2914777	NM_006343.3(MERTK):c.1077T>C (p.Val359=)	LOC112806037, MERTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844983	NM_006343.3(MERTK):c.1144+10G>A	LOC112806037, MERTK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2671615	Single allele	MERTK	Deletion	not provided	GPathogenic
Select item 2430669	NM_006343.3(MERTK):c.1144G>C (p.Ala382Pro)	LOC112806037, MERTK (A382P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129808	NM_006343.3(MERTK):c.1088A>G (p.Asn363Ser)	LOC112806037, MERTK (N363S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2129650	NM_006343.3(MERTK):c.1041G>A (p.Lys347=)	LOC112806037, MERTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2117580	NM_006343.3(MERTK):c.1079C>T (p.Ser360Phe)	LOC112806037, MERTK (S360F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083573	NM_006343.3(MERTK):c.1113C>T (p.Ser371=)	LOC112806037, MERTK	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2062086	NM_006343.3(MERTK):c.977C>T (p.Pro326Leu)	MERTK, LOC112806037 (P326L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1999380	NM_006343.3(MERTK):c.969A>G (p.Glu323=)	LOC112806037, MERTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1996801	NM_006343.3(MERTK):c.1025A>G (p.His342Arg)	LOC112806037, MERTK (H342R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963709	NM_006343.3(MERTK):c.1073G>A (p.Gly358Asp)	LOC112806037, MERTK (G358D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1953901	NM_006343.3(MERTK):c.1009A>T (p.Thr337Ser)	LOC112806037, MERTK (T337S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1941049	NM_006343.3(MERTK):c.1127C>T (p.Ala376Val)	MERTK, LOC112806037 (A376V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910756	NM_006343.3(MERTK):c.961-6G>A	LOC112806037, MERTK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1691718	NM_006343.3(MERTK):c.1647T>G (p.Tyr549Ter)	MERTK (Y549*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 38	GPathogenic
Select item 1638992	NM_006343.3(MERTK):c.1089T>C (p.Asn363=)	LOC112806037, MERTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1638447	NM_006343.3(MERTK):c.1144+8C>G	LOC112806037, MERTK	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1609131	NM_006343.3(MERTK):c.1123C>T (p.Leu375=)	LOC112806037, MERTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1558253	NM_006343.3(MERTK):c.961-7C>T	MERTK, LOC112806037	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1540184	NM_006343.3(MERTK):c.1134G>A (p.Thr378=)	LOC112806037, MERTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1490069	NM_006343.3(MERTK):c.1060A>G (p.Asn354Asp)	LOC112806037, MERTK (N354D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1455039	NM_006343.3(MERTK):c.985_988dup (p.Gly330fs)	LOC112806037, MERTK (G330fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1449144	NM_006343.3(MERTK):c.1100G>A (p.Trp367Ter)	LOC112806037, MERTK (W367*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1365902	NM_006343.3(MERTK):c.1061A>C (p.Asn354Thr)	LOC112806037, MERTK (N354T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330299	NM_006343.3(MERTK):c.2190-2A>G	MERTK	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa 38	GPathogenic
Select item 1275807	NM_006343.3(MERTK):c.1749_1753del (p.Asp583fs)	MERTK (D583fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1275806	NM_006343.3(MERTK):c.1744_1745del (p.Val581_Ile582insTer)	MERTK	Deletion (nonsense)	not provided	GLikely pathogenic
Select item 1091577	NM_006343.3(MERTK):c.1134G>T (p.Thr378=)	LOC112806037, MERTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1083011	NM_006343.3(MERTK):c.1027C>T (p.Leu343=)	LOC112806037, MERTK	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1068170	NM_006343.3(MERTK):c.1144+1G>A	LOC112806037, MERTK	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 1065647	NM_006343.3(MERTK):c.1090G>T (p.Glu364Ter)	LOC112806037, MERTK (E364*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 38 +1 more	GPathogenic
Select item 1064335	NM_006343.3(MERTK):c.1058C>T (p.Ala353Val)	MERTK, LOC112806037 (A353V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1059656	NM_006343.3(MERTK):c.1143A>C (p.Gly381=)	LOC112806037, MERTK	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1017037	NM_006343.3(MERTK):c.1133C>T (p.Thr378Met)	LOC112806037, MERTK (T378M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1010059	NM_006343.3(MERTK):c.1082G>A (p.Cys361Tyr)	LOC112806037, MERTK (C361Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 999893	NM_006343.3(MERTK):c.961-9T>G	LOC112806037, MERTK	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 987307	NM_006343.3(MERTK):c.1690+5del	MERTK	Deletion (intron variant)	not provided	GLikely pathogenic
Select item 987306	NM_006343.3(MERTK):c.1690+3A>T	MERTK	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 987305	NM_006343.3(MERTK):c.1690+1G>A	MERTK	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 987003	NM_006343.3(MERTK):c.1689C>A (p.Thr563=)	MERTK	Single nucleotide variant (synonymous variant)	not provided	GLikely pathogenic
Select item 979020	NM_006343.2:c.(1144+1_1145-1)_(1296+1_1297-1)del	MERTK	Deletion	Autosomal recessive retinitis pigmentosa	GPathogenic
Select item 867009	NM_006343.3(MERTK):c.1744_1751delinsT (p.Val581_Ile582insTer)	MERTK	Indel (nonsense)	Retinal dystrophy	GPathogenic
Select item 866880	NM_006343.3(MERTK):c.842A>C (p.Lys281Thr)	MERTK (K281T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866426	NM_006343.3(MERTK):c.2836T>G (p.Ser946Ala)	MERTK (S946A)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866076	NM_006343.3(MERTK):c.2189_2189+7delinsGGGGA	MERTK	Indel (splice donor variant)	Retinal dystrophy	GLikely pathogenic
Select item 865904	NM_006343.3(MERTK):c.368_369del (p.Tyr123fs)	MERTK (Y123fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 865891	NM_006343.3(MERTK):c.1650del (p.Ile550fs)	MERTK (I550fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 865846	NM_006343.3(MERTK):c.604C>T (p.Gln202Ter)	MERTK (Q202*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 865768	NM_006343.3(MERTK):c.2775T>C (p.His925=)	MERTK	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 863834	NM_006343.3(MERTK):c.1084A>C (p.Met362Leu)	LOC112806037, MERTK (M362L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 849199	NM_006343.3(MERTK):c.1010C>T (p.Thr337Ile)	LOC112806037, MERTK (T337I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 814295	GRCh37/hg19 2q13(chr2:112690808-112803445)x1	MERTK	Copy number loss	not provided	GUncertain significance
Select item 813192	NM_006343.3(MERTK):c.1689_1690+5delinsATATTA	MERTK	Indel (splice donor variant)	Retinitis pigmentosa	GPathogenic
Select item 813191	NM_006343.3(MERTK):c.961-1G>T	LOC112806037, MERTK	Single nucleotide variant (splice acceptor variant)	Retinitis pigmentosa	GPathogenic
Select item 813190	NM_006343.3(MERTK):c.2507G>A (p.Cys836Tyr)	MERTK (C836Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GPathogenic
Select item 811909	NM_006343.3(MERTK):c.1450+2T>G	MERTK	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 38	GLikely pathogenic
Select item 811285	NM_006343.3(MERTK):c.2162A>C (p.His721Pro)	MERTK (H721P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38	GLikely pathogenic
Select item 811179	NM_006343.3(MERTK):c.520A>T (p.Ile174Phe)	MERTK (I174F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 38	GUncertain significance
Select item 809203	GRCh37/hg19 2q13(chr2:112656313-112786441)x1	MERTK	Copy number loss	not provided	GLikely pathogenic
Select item 808794	NM_006343.3(MERTK):c.1396A>G (p.Arg466Gly)	MERTK (R466G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 801735	NM_006343.3(MERTK):c.992_993del (p.Ser331fs)	LOC112806037, MERTK (S331fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 782804	NM_006343.3(MERTK):c.986A>G (p.Asn329Ser)	LOC112806037, MERTK (N329S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 688698	GRCh37/hg19 2q13(chr2:112690808-112803445)x1	MERTK	Copy number loss	not provided	GUncertain significance
Select item 687501	GRCh37/hg19 2q13(chr2:112690808-112809020)x1	MERTK	Copy number loss	not provided	GPathogenic
Select item 687377	GRCh37/hg19 2q13(chr2:112690808-112809020)x1	MERTK	Copy number loss	not provided	GPathogenic
Select item 636043	NM_006343.2:c.(?_-1)_(1144+1_1145-1)del	MERTK, MKS1	Deletion	Retinitis pigmentosa	GPathogenic
Select item 596164	NM_006343.3(MERTK):c.1137T>G (p.Thr379=)	LOC112806037, MERTK	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 520426	NM_006343.3(MERTK):c.1296+5G>A	MERTK	Single nucleotide variant (intron variant)	Retinitis pigmentosa 38	GLikely pathogenic
Select item 444513	NM_006343.3(MERTK):c.844+2dup	MERTK	Duplication (splice donor variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 375231	NM_006343.2(MERTK):c.(?_-1)_(1144+1_1145-1)del	MERTK	Deletion	Retinal dystrophy	GLikely pathogenic
Select item 330751	NM_006343.3(MERTK):c.996C>G (p.Val332=)	LOC112806037, MERTK	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 224739	NM_006343.2:c.-8163_c.1145-1213del	MERTK	Deletion	Retinitis pigmentosa 38	GPathogenic
Select item 143140	NM_006343.3(MERTK):c.370C>T (p.Gln124Ter)	MERTK (Q124*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 38	GLikely pathogenic
Select item 37304	NC_000002.10:g.112364620_112455677del	MERTK	Deletion	Retinitis pigmentosa 38	GPathogenic
Select item 37302	NG_011607.1:g.(86577_89228)_(89381_96385)del	MERTK	Deletion	Retinitis pigmentosa 38	GPathogenic

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Items: 84