ClinVar for MedGen (Select 344221) - ClinVar

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Items: 87

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3250400	NM_139319.3(SLC17A8):c.43A>T (p.Lys15Ter)	SLC17A8 (K15*)	Single nucleotide variant (nonsense)	Autosomal dominant nonsyndromic hearing loss 25	GPathogenic
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 2662215	NM_139319.3(SLC17A8):c.1328dup (p.Arg444fs)	SLC17A8 (R394fs +1 more)	Duplication (frameshift variant)	not provided +1 more	GUncertain significance
Select item 1425847	NM_139319.3(SLC17A8):c.1321A>G (p.Ile441Val)	SLC17A8 (I391V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 25 +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 1181220	NM_139319.3(SLC17A8):c.1187-45C>T	SLC17A8	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 25 +1 more	GBenign
Select item 1174525	NM_139319.3(SLC17A8):c.634C>A (p.Pro212Thr)	SLC17A8 (P212T)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 25	GLikely pathogenic
Select item 1077163	NM_139319.3(SLC17A8):c.616dup (p.Met206fs)	SLC17A8 (M206fs)	Duplication (frameshift variant)	Autosomal dominant nonsyndromic hearing loss 25	GPathogenic
Select item 884045	NM_139319.3(SLC17A8):c.*1883T>C	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 884044	NM_139319.3(SLC17A8):c.*1839A>G	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GLikely benign
Select item 883980	NM_139319.3(SLC17A8):c.*209T>C	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 883979	NM_139319.3(SLC17A8):c.1645G>A (p.Gly549Arg)	SLC17A8 (G549R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 883978	NM_139319.3(SLC17A8):c.1619C>T (p.Ala540Val)	SLC17A8 (A490V +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 883977	NM_139319.3(SLC17A8):c.1445A>C (p.Asn482Thr)	SLC17A8 (N482T +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 883976	NM_139319.3(SLC17A8):c.1430G>A (p.Arg477His)	SLC17A8 (R477H +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 25 +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 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 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 883240	NM_139319.3(SLC17A8):c.*1243A>C	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GLikely benign
Select item 883239	NM_139319.3(SLC17A8):c.*1223T>A	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 883187	NM_139319.3(SLC17A8):c.1331G>T (p.Arg444Leu)	SLC17A8 (R394L +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 883186	NM_139319.3(SLC17A8):c.1106T>C (p.Ile369Thr)	SLC17A8 (I369T +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 25 +1 more	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 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 883122	NM_139319.3(SLC17A8):c.-246T>C	SLC17A8	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GLikely benign
Select item 882101	NM_139319.3(SLC17A8):c.*1090A>T	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GLikely benign
Select item 882100	NM_139319.3(SLC17A8):c.*1077A>G	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 882099	NM_139319.3(SLC17A8):c.*671C>T	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 882098	NM_139319.3(SLC17A8):c.*542G>A	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 882097	NM_139319.3(SLC17A8):c.*541G>C	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 882029	NM_139319.3(SLC17A8):c.903+5G>A	SLC17A8	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 882028	NM_139319.3(SLC17A8):c.766A>C (p.Met256Leu)	SLC17A8 (M256L)	Single nucleotide variant (missense variant)	not provided +1 more	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 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 880691	NM_139319.3(SLC17A8):c.*540A>G	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 880690	NM_139319.3(SLC17A8):c.*480C>T	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GLikely benign
Select item 880689	NM_139319.3(SLC17A8):c.*473T>C	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GLikely benign
Select item 880614	NM_139319.3(SLC17A8):c.687A>C (p.Ala229=)	SLC17A8	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 25 +1 more	GConflicting classifications of pathogenicity
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 632178	NM_139319.3(SLC17A8):c.903+1G>A	SLC17A8	Single nucleotide variant (splice donor variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 513749	NM_139319.3(SLC17A8):c.232A>G (p.Ile78Val)	SLC17A8 (I78V)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 25 +1 more	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 306661	NM_139319.3(SLC17A8):c.*1716C>T	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 306660	NM_139319.3(SLC17A8):c.*1587A>G	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 306658	NM_139319.3(SLC17A8):c.*1502T>G	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 306650	NM_139319.3(SLC17A8):c.*1486A>G	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 306649	NM_139319.3(SLC17A8):c.*1306C>T	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 306648	NM_139319.3(SLC17A8):c.*1295T>C	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GBenign
Select item 306647	NM_139319.3(SLC17A8):c.*1140T>C	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 306646	NM_139319.3(SLC17A8):c.*817A>T	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GBenign
Select item 306645	NM_139319.3(SLC17A8):c.*715A>C	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 306644	NM_139319.3(SLC17A8):c.*534T>C	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 306643	NM_139319.3(SLC17A8):c.*507G>A	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GBenign
Select item 306642	NM_139319.3(SLC17A8):c.*357A>G	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 306641	NM_139319.3(SLC17A8):c.*335C>T	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 306640	NM_139319.3(SLC17A8):c.*244G>A	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 306639	NM_139319.3(SLC17A8):c.*178G>A	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 306638	NM_139319.3(SLC17A8):c.*71T>C	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25 +1 more	GBenign
Select item 306637	NM_139319.3(SLC17A8):c.*39A>C	SLC17A8	Single nucleotide variant (3 prime UTR variant)	Autosomal dominant nonsyndromic hearing loss 25 +1 more	GBenign
Select item 306635	NM_139319.3(SLC17A8):c.1253C>T (p.Ser418Phe)	SLC17A8 (S418F +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 306634	NM_139319.3(SLC17A8):c.1016C>A (p.Ala339Asp)	SLC17A8 (A339D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 306633	NM_139319.3(SLC17A8):c.1015G>A (p.Ala339Thr)	SLC17A8 (A339T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 306632	NM_139319.3(SLC17A8):c.958A>G (p.Ile320Val)	SLC17A8 (I320V)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 306631	NM_139319.3(SLC17A8):c.913A>G (p.Thr305Ala)	SLC17A8 (T305A)	Single nucleotide variant (missense variant +1 more)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 306630	NM_139319.3(SLC17A8):c.762T>C (p.Tyr254=)	SLC17A8	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 25	GUncertain significance
Select item 306629	NM_139319.3(SLC17A8):c.723G>A (p.Leu241=)	SLC17A8	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 25 +1 more	GBenign
Select item 306628	NM_139319.3(SLC17A8):c.658G>A (p.Ala220Thr)	SLC17A8 (A220T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 306627	NM_139319.3(SLC17A8):c.638C>G (p.Pro213Arg)	SLC17A8 (P213R)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 25 +2 more	GUncertain significance
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 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 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 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 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 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 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 306619	NM_139319.3(SLC17A8):c.-218T>C	SLC17A8	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 227948	NM_139319.3(SLC17A8):c.1404C>T (p.Val468=)	SLC17A8	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 225471	NM_139319.3(SLC17A8):c.1120G>T (p.Ala374Ser)	SLC17A8 (A374S +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 25 +1 more	GConflicting classifications of pathogenicity
Select item 198617	NM_139319.3(SLC17A8):c.858T>C (p.Tyr286=)	SLC17A8	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 179803	NM_139319.3(SLC17A8):c.1396C>A (p.Leu466Ile)	SLC17A8 (L466I +1 more)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 25 +3 more	GConflicting classifications of pathogenicity
Select item 178632	NM_139319.3(SLC17A8):c.23C>T (p.Thr8Ile)	SLC17A8 (T8I)	Single nucleotide variant (missense variant)	Autosomal dominant nonsyndromic hearing loss 25 +2 more	GBenign
Select item 165242	NM_139319.3(SLC17A8):c.355-4C>A	SLC17A8	Single nucleotide variant (intron variant)	Autosomal dominant nonsyndromic hearing loss 25 +2 more	GBenign
Select item 47885	NM_139319.3(SLC17A8):c.711G>A (p.Leu237=)	SLC17A8	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 25 +2 more	GBenign
Select item 47884	NM_139319.3(SLC17A8):c.54G>A (p.Lys18=)	SLC17A8	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 25 +2 more	GBenign
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 47882	NM_139319.3(SLC17A8):c.171G>A (p.Thr57=)	SLC17A8	Single nucleotide variant (synonymous variant)	Autosomal dominant nonsyndromic hearing loss 25 +2 more	GBenign
Select item 3109	NM_139319.3(SLC17A8):c.632C>T (p.Ala211Val)	SLC17A8 (A211V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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Items: 87