ClinVar for MedGen (Select 344221) - ClinVar

Links from MedGen

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)	not provided +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 87