ClinVar for Gene (Select 57529) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3315696	NM_001385449.1(RTL9):c.635A>G (p.Asn212Ser)	RTL9 (N212S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315695	NM_001385449.1(RTL9):c.1565C>G (p.Thr522Arg)	RTL9 (T522R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315694	NM_001385449.1(RTL9):c.2033C>A (p.Ala678Glu)	RTL9 (A678E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315693	NM_001385449.1(RTL9):c.890C>T (p.Pro297Leu)	RTL9 (P297L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315692	NM_001385449.1(RTL9):c.429G>T (p.Met143Ile)	RTL9 (M143I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315691	NM_001385449.1(RTL9):c.3488C>T (p.Ser1163Phe)	RTL9 (S1163F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315688	NM_001385449.1(RTL9):c.3246G>A (p.Met1082Ile)	RTL9 (M1082I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315687	NM_001385449.1(RTL9):c.1181C>G (p.Ala394Gly)	RTL9 (A394G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315686	NM_001385449.1(RTL9):c.4012G>A (p.Gly1338Arg)	RTL9 (G1338R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315685	NM_001385449.1(RTL9):c.2232G>A (p.Met744Ile)	RTL9 (M744I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315684	NM_001385449.1(RTL9):c.2053A>G (p.Thr685Ala)	RTL9 (T685A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315683	NM_001385449.1(RTL9):c.2963C>T (p.Thr988Met)	RTL9 (T988M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3315682	NM_001385449.1(RTL9):c.245C>G (p.Pro82Arg)	RTL9 (P82R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315681	NM_001385449.1(RTL9):c.3116C>T (p.Ser1039Leu)	RTL9 (S1039L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315680	NM_001385449.1(RTL9):c.98C>A (p.Thr33Lys)	RTL9 (T33K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315678	NM_001385449.1(RTL9):c.220A>T (p.Met74Leu)	RTL9 (M74L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315677	NM_001385449.1(RTL9):c.3812G>A (p.Arg1271Gln)	RTL9 (R1271Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3315676	NM_001385449.1(RTL9):c.3736C>G (p.Gln1246Glu)	RTL9 (Q1246E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3157006	NM_001385449.1(RTL9):c.999G>A (p.Met333Ile)	RTL9 (M333I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157005	NM_001385449.1(RTL9):c.980T>C (p.Val327Ala)	RTL9 (V327A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157004	NM_001385449.1(RTL9):c.968C>T (p.Pro323Leu)	RTL9 (P323L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157002	NM_001385449.1(RTL9):c.926C>T (p.Ser309Leu)	RTL9 (S309L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157001	NM_001385449.1(RTL9):c.914G>A (p.Gly305Glu)	RTL9 (G305E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3157000	NM_001385449.1(RTL9):c.4097C>T (p.Pro1366Leu)	RTL9 (P1366L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156999	NM_001385449.1(RTL9):c.3998A>C (p.Asn1333Thr)	RTL9 (N1333T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156998	NM_001385449.1(RTL9):c.3380C>T (p.Thr1127Ile)	RTL9 (T1127I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156997	NM_001385449.1(RTL9):c.3212C>T (p.Thr1071Ile)	RTL9 (T1071I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3156996	NM_001385449.1(RTL9):c.3059G>A (p.Arg1020Lys)	RTL9 (R1020K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156995	NM_001385449.1(RTL9):c.3050C>T (p.Ala1017Val)	RTL9 (A1017V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156994	NM_001385449.1(RTL9):c.3038G>A (p.Arg1013Lys)	RTL9 (R1013K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156993	NM_001385449.1(RTL9):c.3020C>T (p.Thr1007Ile)	RTL9 (T1007I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156992	NM_001385449.1(RTL9):c.3017C>A (p.Thr1006Lys)	RTL9 (T1006K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156991	NM_001385449.1(RTL9):c.3016A>G (p.Thr1006Ala)	RTL9 (T1006A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156990	NM_001385449.1(RTL9):c.2996G>T (p.Arg999Ile)	RTL9 (R999I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156989	NM_001385449.1(RTL9):c.2942A>G (p.Glu981Gly)	RTL9 (E981G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156988	NM_001385449.1(RTL9):c.2929A>G (p.Met977Val)	RTL9 (M977V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156987	NM_001385449.1(RTL9):c.2885T>C (p.Met962Thr)	RTL9 (M962T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156986	NM_001385449.1(RTL9):c.2804A>G (p.His935Arg)	RTL9 (H935R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156985	NM_001385449.1(RTL9):c.2698C>T (p.Pro900Ser)	RTL9 (P900S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156984	NM_001385449.1(RTL9):c.2516C>T (p.Ala839Val)	RTL9 (A839V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156983	NM_001385449.1(RTL9):c.2316G>A (p.Met772Ile)	RTL9 (M772I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156982	NM_001385449.1(RTL9):c.2302T>C (p.Ser768Pro)	RTL9 (S768P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156981	NM_001385449.1(RTL9):c.2269C>G (p.Pro757Ala)	RTL9 (P757A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156980	NM_001385449.1(RTL9):c.2198T>C (p.Met733Thr)	RTL9 (M733T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3156978	NM_001385449.1(RTL9):c.2116C>T (p.Pro706Ser)	RTL9 (P706S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156977	NM_001385449.1(RTL9):c.1952G>A (p.Gly651Glu)	RTL9 (G651E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156976	NM_001385449.1(RTL9):c.1910C>T (p.Ser637Phe)	RTL9 (S637F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156975	NM_001385449.1(RTL9):c.1744G>A (p.Ala582Thr)	RTL9 (A582T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156974	NM_001385449.1(RTL9):c.1647G>A (p.Met549Ile)	RTL9 (M549I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156973	NM_001385449.1(RTL9):c.1646T>C (p.Met549Thr)	RTL9 (M549T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156972	NM_001385449.1(RTL9):c.1642G>A (p.Ala548Thr)	RTL9 (A548T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156971	NM_001385449.1(RTL9):c.1620A>C (p.Gln540His)	RTL9 (Q540H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156970	NM_001385449.1(RTL9):c.1583T>C (p.Leu528Ser)	RTL9 (L528S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156969	NM_001385449.1(RTL9):c.1530G>A (p.Met510Ile)	RTL9 (M510I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156968	NM_001385449.1(RTL9):c.1478C>A (p.Ala493Asp)	RTL9 (A493D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156967	NM_001385449.1(RTL9):c.1469G>C (p.Arg490Thr)	RTL9 (R490T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156966	NM_001385449.1(RTL9):c.1450G>A (p.Val484Met)	RTL9 (V484M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156965	NM_001385449.1(RTL9):c.1241C>T (p.Pro414Leu)	RTL9 (P414L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156964	NM_001385449.1(RTL9):c.1226G>C (p.Gly409Ala)	RTL9 (G409A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156963	NM_001385449.1(RTL9):c.1163C>T (p.Pro388Leu)	RTL9 (P388L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3156961	NM_001385449.1(RTL9):c.1147G>C (p.Glu383Gln)	RTL9 (E383Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3156960	NM_001385449.1(RTL9):c.1034C>A (p.Ala345Glu)	RTL9 (A345E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156959	NM_001385449.1(RTL9):c.1018G>T (p.Ala340Ser)	RTL9 (A340S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3156958	NM_001385449.1(RTL9):c.1010C>G (p.Pro337Arg)	RTL9 (P337R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	CT47A5, NXF3 +488 more	Copy number gain	not provided	GPathogenic
Select item 2685715	GRCh37/hg19 Xq21.31-25(chrX:91274467-126799984)x1	ACSL4, AGTR2 +175 more	Copy number loss	not provided	GPathogenic
Select item 2684996	GRCh37/hg19 Xq21.1-24(chrX:77212972-118576590)x3	ACSL4, AGTR2 +159 more	Copy number gain	not provided	GPathogenic
Select item 2661197	NM_001385449.1(RTL9):c.4160A>G (p.Asn1387Ser)	RTL9 (N1387S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661196	NM_001385449.1(RTL9):c.3030G>C (p.Val1010=)	RTL9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661195	NM_001385449.1(RTL9):c.888C>G (p.Thr296=)	RTL9	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661194	NM_001385449.1(RTL9):c.623T>C (p.Met208Thr)	RTL9 (M208T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2613443	NM_001385449.1(RTL9):c.2155C>T (p.Leu719Phe)	RTL9 (L719F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543353	NM_001385449.1(RTL9):c.2446G>A (p.Gly816Arg)	RTL9 (G816R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543124	NM_001385449.1(RTL9):c.2479G>A (p.Ala827Thr)	RTL9 (A827T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534085	NM_001385449.1(RTL9):c.3531G>T (p.Lys1177Asn)	RTL9 (K1177N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533575	NM_001385449.1(RTL9):c.83T>C (p.Phe28Ser)	RTL9 (F28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532014	NM_001385449.1(RTL9):c.3985T>C (p.Cys1329Arg)	RTL9 (C1329R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520559	NM_001385449.1(RTL9):c.1294C>T (p.Pro432Ser)	RTL9 (P432S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2513994	NM_001385449.1(RTL9):c.1087A>T (p.Thr363Ser)	RTL9 (T363S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2511134	NM_001385449.1(RTL9):c.2870C>T (p.Pro957Leu)	RTL9 (P957L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	ABCB7, ABCD1 +818 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 2485503	NM_001385449.1(RTL9):c.2503C>T (p.Pro835Ser)	RTL9 (P835S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480189	NM_001385449.1(RTL9):c.1186G>A (p.Gly396Arg)	RTL9 (G396R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476289	NM_001385449.1(RTL9):c.1641A>C (p.Glu547Asp)	RTL9 (E547D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475243	NM_001385449.1(RTL9):c.3023A>G (p.Tyr1008Cys)	RTL9 (Y1008C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474168	NM_001385449.1(RTL9):c.2810C>A (p.Ser937Tyr)	RTL9 (S937Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470172	NM_001385449.1(RTL9):c.2437C>G (p.Pro813Ala)	RTL9 (P813A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466337	NM_001385449.1(RTL9):c.3955G>C (p.Gly1319Arg)	RTL9 (G1319R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460851	NM_001385449.1(RTL9):c.3028G>A (p.Val1010Met)	RTL9 (V1010M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460826	NM_001385449.1(RTL9):c.2435C>T (p.Ser812Phe)	RTL9 (S812F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459474	NM_001385449.1(RTL9):c.320C>T (p.Ala107Val)	RTL9 (A107V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457381	NM_001385449.1(RTL9):c.120G>C (p.Gln40His)	RTL9 (Q40H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809431	GRCh37/hg19 Xq23(chrX:108922296-111549785)x1	ACSL4, ALG13 +10 more	Copy number loss	not provided	GPathogenic
Select item 1809029	GRCh37/hg19 Xq23(chrX:109622178-110242737)x3	AMMECR1, CHRDL1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808673	GRCh37/hg19 Xq21.33-24(chrX:93805850-118913329)x1	ACSL4, AGTR2 +133 more	Copy number loss	not provided	GPathogenic
Select item 1808432	GRCh37/hg19 Xq23(chrX:109520211-109929010)x3	AMMECR1, CHRDL1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1710513	GRCh37/hg19 Xq21.1-24(chrX:76794355-119282836)x3	CAPN6, CENPI +176 more	Copy number gain	not provided	GPathogenic

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