246213[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC126861648, LOC126861649 +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	LOC130008616, LOC130008617 +712 more	Copy number gain	See cases	GPathogenic
Select item 148826	GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3	ACTR6, ANKS1B +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 1211653	NC_000012.12:g.100356902C>A	SLC17A8	Single nucleotide variant	not provided	GLikely benign
Select item 881944	NM_139319.3(SLC17A8):c.-311G>A	SLC17A8	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 881945	NM_139319.3(SLC17A8):c.-295C>G	SLC17A8	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 883122	NM_139319.3(SLC17A8):c.-246T>C	SLC17A8	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GLikely benign
Select item 306619	NM_139319.3(SLC17A8):c.-218T>C	SLC17A8	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 883123	NM_139319.3(SLC17A8):c.-93A>G	SLC17A8	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 306620	NM_139319.3(SLC17A8):c.-88A>C	SLC17A8	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 883124	NM_139319.3(SLC17A8):c.-72A>T	SLC17A8	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 306621	NM_139319.3(SLC17A8):c.-32T>G	SLC17A8	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 1216232	NM_139319.3(SLC17A8):c.15A>G (p.Ala5=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1219497	NM_139319.3(SLC17A8):c.17T>C (p.Phe6Ser)	SLC17A8 (F6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 178632	NM_139319.3(SLC17A8):c.23C>T (p.Thr8Ile)	SLC17A8 (T8I)	Single nucleotide variant (missense variant)	SLC17A8-related condition +3 more	GBenign
Select item 1578983	NM_139319.3(SLC17A8):c.27C>T (p.Phe9=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 817730	NM_139319.3(SLC17A8):c.27_30del (p.Phe9fs)	SLC17A8 (F9fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1496959	NM_139319.3(SLC17A8):c.29A>G (p.Lys10Arg)	SLC17A8 (K10R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 47884	NM_139319.3(SLC17A8):c.54G>A (p.Lys18=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 2875508	NM_139319.3(SLC17A8):c.60A>T (p.Gly20=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1225423	NM_139319.3(SLC17A8):c.102-310A>G	SLC17A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265235	NM_139319.3(SLC17A8):c.102-24C>A	SLC17A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1639768	NM_139319.3(SLC17A8):c.102-18A>G	SLC17A8	Single nucleotide variant (intron 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 883900	NM_139319.3(SLC17A8):c.109G>A (p.Asp37Asn)	SLC17A8 (D37N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 883901	NM_139319.3(SLC17A8):c.110A>G (p.Asp37Gly)	SLC17A8 (D37G)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 306622	NM_139319.3(SLC17A8):c.118A>G (p.Thr40Ala)	SLC17A8 (T40A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 883902	NM_139319.3(SLC17A8):c.124G>A (p.Glu42Lys)	SLC17A8 (E42K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 546168	NM_139319.3(SLC17A8):c.139G>C (p.Glu47Gln)	SLC17A8 (E47Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 731527	NM_139319.3(SLC17A8):c.142C>T (p.Leu48=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2765944	NM_139319.3(SLC17A8):c.162G>A (p.Pro54=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 452551	NM_139319.3(SLC17A8):c.170C>T (p.Thr57Met)	SLC17A8 (T57M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 47882	NM_139319.3(SLC17A8):c.171G>A (p.Thr57=)	SLC17A8	Single nucleotide variant (synonymous variant)	SLC17A8-related condition +3 more	GBenign
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 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 2805551	NM_139319.3(SLC17A8):c.187C>G (p.Pro63Ala)	SLC17A8 (P63A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1310814	NM_139319.3(SLC17A8):c.196G>A (p.Asp66Asn)	SLC17A8 (D66N)	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)	not provided	GUncertain significance
Select item 306623	NM_139319.3(SLC17A8):c.210C>T (p.Cys70=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 306624	NM_139319.3(SLC17A8):c.221A>C (p.Lys74Thr)	SLC17A8 (K74T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2376789	NM_139319.3(SLC17A8):c.223C>A (p.Arg75Ser)	SLC17A8 (R75S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1308868	NM_139319.3(SLC17A8):c.224G>A (p.Arg75His)	SLC17A8 (R75H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 513749	NM_139319.3(SLC17A8):c.232A>G (p.Ile78Val)	SLC17A8 (I78V)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
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 1209104	NM_139319.3(SLC17A8):c.237T>C (p.Ala79=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2621668	NM_139319.3(SLC17A8):c.285T>A (p.Asn95Lys)	SLC17A8 (N95K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 165240	NM_139319.3(SLC17A8):c.310G>A (p.Val104Ile)	SLC17A8 (V104I)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 2718797	NM_139319.3(SLC17A8):c.322A>G (p.Thr108Ala)	SLC17A8 (T108A)	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 2193183	NM_139319.3(SLC17A8):c.331G>A (p.Val111Ile)	SLC17A8 (V111I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 47883	NM_139319.3(SLC17A8):c.336T>C (p.Asp112=)	SLC17A8	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 2490018	NM_139319.3(SLC17A8):c.344C>T (p.Pro115Leu)	SLC17A8 (P115L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 179403	NM_139319.3(SLC17A8):c.354+4G>C	SLC17A8	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 306625	NM_139319.3(SLC17A8):c.354+7A>T	SLC17A8	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 262468	NM_139319.3(SLC17A8):c.354+16T>C	SLC17A8	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 1230478	NM_139319.3(SLC17A8):c.354+173C>G	SLC17A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243433	NM_139319.3(SLC17A8):c.354+177CATCTCAG[4]	SLC17A8	Microsatellite (intron variant)	not provided	GBenign
Select item 1186194	NM_139319.3(SLC17A8):c.354+230A>T	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 165242	NM_139319.3(SLC17A8):c.355-4C>A	SLC17A8	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
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 1722784	NM_139319.3(SLC17A8):c.356C>T (p.Thr119Ile)	SLC17A8 (T119I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 742736	NM_139319.3(SLC17A8):c.389G>A (p.Gly130Asp)	SLC17A8 (G130D)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 2017261	NM_139319.3(SLC17A8):c.443G>C (p.Gly148Ala)	SLC17A8 (G148A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1182980	NM_139319.3(SLC17A8):c.473+2T>C	SLC17A8	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1649683	NM_139319.3(SLC17A8):c.473+13G>A	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1507359	NM_139319.3(SLC17A8):c.473+16A>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 1199591	NM_139319.3(SLC17A8):c.473+34A>G	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1211186	NM_139319.3(SLC17A8):c.473+329G>A	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1180107	NM_139319.3(SLC17A8):c.474-300G>A	SLC17A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280092	NM_139319.3(SLC17A8):c.474-197C>T	SLC17A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179835	NM_139319.3(SLC17A8):c.474-52T>C	SLC17A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1991799	NM_139319.3(SLC17A8):c.474-14C>A	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1674242	NM_139319.3(SLC17A8):c.474-3dup	SLC17A8	Duplication (intron variant)	not provided	GBenign
Select item 3007544	NM_139319.3(SLC17A8):c.474-5C>A	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1379853	NM_139319.3(SLC17A8):c.485C>T (p.Ala162Val)	SLC17A8 (A162V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2643231	NM_139319.3(SLC17A8):c.504G>A (p.Ser168=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 306626	NM_139319.3(SLC17A8):c.530C>T (p.Ala177Val)	SLC17A8 (A177V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 1188513	NM_139319.3(SLC17A8):c.532G>A (p.Ala178Thr)	SLC17A8 (A178T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1310207	NM_139319.3(SLC17A8):c.547G>C (p.Gly183Arg)	SLC17A8 (G183R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 165243	NM_139319.3(SLC17A8):c.547G>A (p.Gly183Arg)	SLC17A8 (G183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 499160	NM_139319.3(SLC17A8):c.552C>T (p.Cys184=)	SLC17A8	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 880613	NM_139319.3(SLC17A8):c.566G>A (p.Arg189Lys)	SLC17A8 (R189K)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 25	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 286629	NM_139319.3(SLC17A8):c.584T>C (p.Val195Ala)	SLC17A8 (V195A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1189978	NM_139319.3(SLC17A8):c.588+192T>C	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1178078	NM_139319.3(SLC17A8):c.588+208T>C	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1212297	NM_139319.3(SLC17A8):c.589-278G>C	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296858	NM_139319.3(SLC17A8):c.589-256T>C	SLC17A8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194518	NM_139319.3(SLC17A8):c.589-173G>A	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1254133	NM_139319.3(SLC17A8):c.589-22C>T	SLC17A8	Single nucleotide variant (intron variant)	not provided	GLikely benign

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