ClinVar for Gene (Select 246213) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3163208	NM_139319.3(SLC17A8):c.262A>G (p.Ile88Val)	SLC17A8 (I88V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163207	NM_139319.3(SLC17A8):c.1600C>T (p.Leu534Phe)	SLC17A8 (L534F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3163205	NM_139319.3(SLC17A8):c.1363G>A (p.Gly455Arg)	SLC17A8 (G405R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3066296	NM_139319.3(SLC17A8):c.903+1_903+6del	SLC17A8	Deletion (splice donor variant)	Autosomal dominant nonsyndromic hearing loss 25	GLikely pathogenic
Select item 3030135	NM_139319.3(SLC17A8):c.1068A>G (p.Ser356=)	SLC17A8	Single nucleotide variant (synonymous variant)	SLC17A8-related disorder	GLikely benign
Select item 3027153	NM_139319.3(SLC17A8):c.1707C>A (p.Thr569=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3022174	NM_139319.3(SLC17A8):c.589-17T>C	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007982	NM_139319.3(SLC17A8):c.603A>G (p.Pro201=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007544	NM_139319.3(SLC17A8):c.474-5C>A	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3001586	NM_139319.3(SLC17A8):c.1652C>T (p.Thr551Ile)	SLC17A8 (T551I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999959	NM_139319.3(SLC17A8):c.1116A>G (p.Gln372=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2989816	NM_139319.3(SLC17A8):c.1640C>G (p.Ser547Cys)	SLC17A8 (S547C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2980492	NM_139319.3(SLC17A8):c.830C>T (p.Pro277Leu)	SLC17A8 (P277L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966214	NM_139319.3(SLC17A8):c.173C>T (p.Ser58Phe)	SLC17A8 (S58F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2958046	NM_139319.3(SLC17A8):c.330T>C (p.Tyr110=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2954771	NM_139319.3(SLC17A8):c.102-5T>C	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900007	NM_139319.3(SLC17A8):c.1298-4G>A	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2887495	NM_139319.3(SLC17A8):c.903+9A>G	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875508	NM_139319.3(SLC17A8):c.60A>T (p.Gly20=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2873089	NM_139319.3(SLC17A8):c.676+8T>C	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2834900	NM_139319.3(SLC17A8):c.785A>C (p.Tyr262Ser)	SLC17A8 (Y262S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2805551	NM_139319.3(SLC17A8):c.187C>G (p.Pro63Ala)	SLC17A8 (P63A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2765944	NM_139319.3(SLC17A8):c.162G>A (p.Pro54=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2735925	NM_139319.3(SLC17A8):c.1400T>C (p.Ile467Thr)	SLC17A8 (I417T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718797	NM_139319.3(SLC17A8):c.322A>G (p.Thr108Ala)	SLC17A8 (T108A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2714177	NM_139319.3(SLC17A8):c.235G>A (p.Ala79Thr)	SLC17A8 (A79T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2711719	NM_139319.3(SLC17A8):c.945G>A (p.Pro315=)	SLC17A8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2662447	NM_139319.3(SLC17A8):c.743C>T (p.Ser248Phe)	SLC17A8 (S248F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662215	NM_139319.3(SLC17A8):c.1328dup (p.Arg444fs)	SLC17A8 (R394fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GUncertain significance
Select item 2643233	NM_139319.3(SLC17A8):c.1565T>G (p.Ile522Ser)	SLC17A8 (I472S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643232	NM_139319.3(SLC17A8):c.573G>T (p.Leu191=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2643231	NM_139319.3(SLC17A8):c.504G>A (p.Ser168=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2636649	NM_139319.3(SLC17A8):c.1151C>T (p.Thr384Ile)	SLC17A8 (T334I +1 more)	Single nucleotide variant (missense variant)	SLC17A8-related disorder	GUncertain significance
Select item 2621668	NM_139319.3(SLC17A8):c.285T>A (p.Asn95Lys)	SLC17A8 (N95K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2619062	NM_139319.3(SLC17A8):c.733A>G (p.Ile245Val)	SLC17A8 (I245V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2572938	NM_139319.3(SLC17A8):c.398A>G (p.His133Arg)	SLC17A8 (H133R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2550971	NM_139319.3(SLC17A8):c.886A>T (p.Asn296Tyr)	SLC17A8 (N296Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538074	NM_139319.3(SLC17A8):c.832A>G (p.Thr278Ala)	SLC17A8 (T278A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532017	NM_139319.3(SLC17A8):c.349A>G (p.Ile117Val)	SLC17A8 (I117V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525720	NM_139319.3(SLC17A8):c.1486A>T (p.Ile496Phe)	SLC17A8 (I496F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504666	NM_139319.3(SLC17A8):c.223C>T (p.Arg75Cys)	SLC17A8 (R75C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2503369	NM_139319.3(SLC17A8):c.1178A>G (p.Asn393Ser)	SLC17A8 (N343S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2490018	NM_139319.3(SLC17A8):c.344C>T (p.Pro115Leu)	SLC17A8 (P115L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2488784	NM_139319.3(SLC17A8):c.1327C>G (p.Pro443Ala)	SLC17A8 (P393A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2477726	NM_139319.3(SLC17A8):c.320G>A (p.Ser107Asn)	SLC17A8 (S107N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469108	NM_139319.3(SLC17A8):c.1744G>A (p.Glu582Lys)	SLC17A8 (E532K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2446512	NM_139319.3(SLC17A8):c.1736A>T (p.Gln579Leu)	SLC17A8 (Q529L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428983	NM_139319.3(SLC17A8):c.211G>A (p.Gly71Ser)	SLC17A8 (G71S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2414175	NM_139319.3(SLC17A8):c.1095C>T (p.Ile365=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2400974	NM_139319.3(SLC17A8):c.1429C>T (p.Arg477Cys)	SLC17A8 (R477C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376789	NM_139319.3(SLC17A8):c.223C>A (p.Arg75Ser)	SLC17A8 (R75S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299458	NM_139319.3(SLC17A8):c.1304A>G (p.Asn435Ser)	SLC17A8 (N385S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266208	NM_139319.3(SLC17A8):c.81T>G (p.Asp27Glu)	SLC17A8 (D27E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256670	NM_139319.3(SLC17A8):c.1385T>C (p.Met462Thr)	SLC17A8 (M412T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240334	NM_139319.3(SLC17A8):c.1666G>A (p.Glu556Lys)	SLC17A8 (E556K +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2238064	NM_139319.3(SLC17A8):c.635C>G (p.Pro212Arg)	SLC17A8 (P212R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2193183	NM_139319.3(SLC17A8):c.331G>A (p.Val111Ile)	SLC17A8 (V111I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2188154	NM_139319.3(SLC17A8):c.183C>G (p.Ser61Arg)	SLC17A8 (S61R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2181700	NM_139319.3(SLC17A8):c.944C>T (p.Pro315Leu)	SLC17A8 (P315L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2180657	NM_139319.3(SLC17A8):c.1211T>C (p.Leu404Pro)	SLC17A8 (L354P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2177776	NM_139319.3(SLC17A8):c.1053+8C>T	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2174799	NM_139319.3(SLC17A8):c.188C>G (p.Pro63Arg)	SLC17A8 (P63R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2095591	NM_139319.3(SLC17A8):c.591T>C (p.Gly197=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2067282	NM_139319.3(SLC17A8):c.1353G>C (p.Gly451=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2061242	NM_139319.3(SLC17A8):c.1229C>T (p.Ser410Leu)	SLC17A8 (S360L +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2031688	NM_139319.3(SLC17A8):c.1662T>C (p.Asn554=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2028211	NM_139319.3(SLC17A8):c.765C>T (p.Gly255=)	SLC17A8	Single nucleotide variant (synonymous variant)	SLC17A8-related disorder +1 more	GLikely benign
Select item 2017261	NM_139319.3(SLC17A8):c.443G>C (p.Gly148Ala)	SLC17A8 (G148A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2017134	NM_139319.3(SLC17A8):c.676+9A>G	SLC17A8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2002071	NM_139319.3(SLC17A8):c.766A>T (p.Met256Leu)	SLC17A8 (M256L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1991799	NM_139319.3(SLC17A8):c.474-14C>A	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1990352	NM_139319.3(SLC17A8):c.1298-17T>A	SLC17A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1962547	NM_139319.3(SLC17A8):c.1220T>C (p.Val407Ala)	SLC17A8 (V357A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1929720	NM_139319.3(SLC17A8):c.1054-1G>C	SLC17A8	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1922716	NM_139319.3(SLC17A8):c.676+3G>A	SLC17A8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1913565	NM_139319.3(SLC17A8):c.1426-18C>A	SLC17A8	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1912837	NM_139319.3(SLC17A8):c.677-18_677-15del	SLC17A8	Deletion (intron variant)	not provided	GLikely benign
Select item 1879242	NM_139319.3(SLC17A8):c.1298-5T>A	SLC17A8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1804575	NM_139319.3(SLC17A8):c.356C>G (p.Thr119Arg)	SLC17A8 (T119R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1802121	NM_139319.3(SLC17A8):c.1187-3C>T	SLC17A8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1722784	NM_139319.3(SLC17A8):c.356C>T (p.Thr119Ile)	SLC17A8 (T119I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1706090	NM_139319.3(SLC17A8):c.1262T>C (p.Val421Ala)	SLC17A8 (V371A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1699827	NM_139319.3(SLC17A8):c.664A>T (p.Thr222Ser)	SLC17A8 (T222S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693018	NM_139319.3(SLC17A8):c.200G>A (p.Cys67Tyr)	SLC17A8 (C67Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1686760	NM_139319.3(SLC17A8):c.243G>A (p.Met81Ile)	SLC17A8 (M81I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1674242	NM_139319.3(SLC17A8):c.474-3dup	SLC17A8	Duplication (intron variant)	not provided	GBenign
Select item 1650271	NM_139319.3(SLC17A8):c.1537G>A (p.Glu513Lys)	SLC17A8 (E463K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 1649683	NM_139319.3(SLC17A8):c.473+13G>A	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1642018	NM_139319.3(SLC17A8):c.1425+11C>A	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639768	NM_139319.3(SLC17A8):c.102-18A>G	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638672	NM_139319.3(SLC17A8):c.473+17T>C	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1578983	NM_139319.3(SLC17A8):c.27C>T (p.Phe9=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1527727	GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075)	ACTR6, ANO4 +19 more	Copy number loss	not specified	GUncertain significance
Select item 1507359	NM_139319.3(SLC17A8):c.473+16A>G	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1496959	NM_139319.3(SLC17A8):c.29A>G (p.Lys10Arg)	SLC17A8 (K10R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1437814	NM_139319.3(SLC17A8):c.161C>T (p.Pro54Leu)	SLC17A8 (P54L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1425847	NM_139319.3(SLC17A8):c.1321A>G (p.Ile441Val)	SLC17A8 (I391V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1420306	NM_139319.3(SLC17A8):c.1330C>T (p.Arg444Cys)	SLC17A8 (R394C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1395458	NM_139319.3(SLC17A8):c.1297+4dup	SLC17A8	Duplication (intron variant)	not provided	GUncertain significance

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