"Counsyl"[submitter] AND "SLC26A4"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 358493	NM_000441.2(SLC26A4):c.-8G>A	SLC26A4, SLC26A4-AS1	Single nucleotide variant (5 prime UTR variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 188721	NM_000441.2(SLC26A4):c.3G>C (p.Met1Ile)	SLC26A4, SLC26A4-AS1 (M1I)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 43515	NM_000441.2(SLC26A4):c.15C>A (p.Gly5=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity
Select item 43524	NM_000441.2(SLC26A4):c.17G>T (p.Gly6Val)	SLC26A4, SLC26A4-AS1 (G6V)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity
Select item 43550	NM_000441.1(SLC26A4):c.28C>A (p.Pro10Thr)	SLC26A4, SLC26A4-AS1 (P10T)	Single nucleotide variant	not provided +3 more	GConflicting classifications of pathogenicity
Select item 557202	NM_000441.2(SLC26A4):c.53_58del (p.Cys18_Ser19del)	SLC26A4, SLC26A4-AS1	Deletion (non-coding transcript variant +1 more)	Pendred syndrome	GUncertain significance
Select item 370620	NM_000441.2(SLC26A4):c.55del (p.Ser19fs)	SLC26A4, SLC26A4-AS1 (S19fs)	Deletion (non-coding transcript variant +1 more)	Pendred syndrome +1 more	GPathogenic/Likely pathogenic
Select item 43563	NM_000441.2(SLC26A4):c.68C>A (p.Ser23Ter)	SLC26A4, SLC26A4-AS1 (S23*)	Single nucleotide variant (non-coding transcript variant +1 more)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 188998	NM_000441.2(SLC26A4):c.84C>A (p.Ser28Arg)	SLC26A4, SLC26A4-AS1 (S28R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 43569	NM_000441.2(SLC26A4):c.85G>T (p.Glu29Ter)	SLC26A4, SLC26A4-AS1 (E29*)	Single nucleotide variant (non-coding transcript variant +1 more)	Pendred syndrome +2 more	GPathogenic/Likely pathogenic
Select item 4839	NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)	SLC26A4, SLC26A4-AS1 (E29Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4 +4 more	GPathogenic/Likely pathogenic
Select item 552271	NM_000441.2(SLC26A4):c.86A>G (p.Glu29Gly)	SLC26A4, SLC26A4-AS1 (E29G)	Single nucleotide variant (non-coding transcript variant +1 more)	Pendred syndrome +2 more	GConflicting classifications of pathogenicity
Select item 554998	NM_000441.2(SLC26A4):c.87G>T (p.Glu29Asp)	SLC26A4, SLC26A4-AS1 (E29D)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 504923	NM_000441.2(SLC26A4):c.128G>A (p.Arg43His)	SLC26A4, SLC26A4-AS1 (R43H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GUncertain significance
Select item 371369	NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter)	SLC26A4, SLC26A4-AS1 (E48*)	Single nucleotide variant (non-coding transcript variant +1 more)	Pendred syndrome +2 more	GPathogenic/Likely pathogenic
Select item 550555	NM_000441.2(SLC26A4):c.149T>C (p.Leu50Pro)	SLC26A4, SLC26A4-AS1 (L50P)	Single nucleotide variant (non-coding transcript variant +1 more)	Pendred syndrome	GUncertain significance
Select item 188838	NM_000441.2(SLC26A4):c.164+1del	SLC26A4	Deletion (splice donor variant)	Pendred syndrome +2 more	GPathogenic/Likely pathogenic
Select item 553446	NM_000441.2(SLC26A4):c.164+2T>A	SLC26A4	Single nucleotide variant (splice donor variant)	Pendred syndrome	GLikely pathogenic
Select item 43518	NM_000441.2(SLC26A4):c.164+2T>C	SLC26A4	Single nucleotide variant (splice donor variant)	Pendred syndrome +3 more	GPathogenic
Select item 555664	NM_000441.2(SLC26A4):c.165-13T>G	SLC26A4	Single nucleotide variant (intron variant)	Pendred syndrome	GUncertain significance
Select item 551949	NM_000441.2(SLC26A4):c.165-3C>G	SLC26A4	Single nucleotide variant (intron variant)	Pendred syndrome	GUncertain significance
Select item 188772	NM_000441.2(SLC26A4):c.165-2A>G	SLC26A4	Single nucleotide variant (splice acceptor variant)	Pendred syndrome	GLikely pathogenic
Select item 43522	NM_000441.2(SLC26A4):c.170C>G (p.Ser57Ter)	SLC26A4 (S57*)	Single nucleotide variant (nonsense)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 43531	NM_000441.2(SLC26A4):c.200C>G (p.Thr67Ser)	SLC26A4 (T67S)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely benign FDA Recognized database
Select item 551009	NM_000441.2(SLC26A4):c.227C>T (p.Pro76Leu)	SLC26A4 (P76L)	Single nucleotide variant (missense variant)	Pendred syndrome +1 more	GPathogenic/Likely pathogenic
Select item 188950	NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)	SLC26A4 (R79*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 502106	NM_000441.2(SLC26A4):c.236G>A (p.Arg79Gln)	SLC26A4 (R79Q)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GUncertain significance
Select item 370650	NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter)	SLC26A4 (W83*)	Single nucleotide variant (nonsense)	Pendred syndrome +2 more	GPathogenic
Select item 552777	NM_000441.2(SLC26A4):c.259G>T (p.Asp87Tyr)	SLC26A4 (D87Y)	Single nucleotide variant (missense variant)	Pendred syndrome +1 more	GPathogenic/Likely pathogenic
Select item 188842	NM_000441.2(SLC26A4):c.269C>T (p.Ser90Leu)	SLC26A4 (S90L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 188715	NM_000441.2(SLC26A4):c.279del (p.Ser93fs)	SLC26A4 (S93fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GPathogenic/Likely pathogenic
Select item 371034	NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile)	SLC26A4 (T94I)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic
Select item 43551	NM_000441.2(SLC26A4):c.294_298del (p.Thr99fs)	SLC26A4 (T99fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic
Select item 189167	NM_000441.2(SLC26A4):c.304+2T>C	SLC26A4	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 557456	NM_000441.2(SLC26A4):c.328G>A (p.Ala110Thr)	SLC26A4 (A110T)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 551863	NM_000441.2(SLC26A4):c.349del (p.Leu117fs)	SLC26A4 (L117fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 189148	NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)	SLC26A4 (I124fs)	Duplication (frameshift variant)	Pendred syndrome	GPathogenic FDA Recognized database
Select item 552696	NM_000441.2(SLC26A4):c.391G>C (p.Gly131Arg)	SLC26A4 (G131R)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 550080	NM_000441.2(SLC26A4):c.395C>T (p.Thr132Ile)	SLC26A4 (T132I)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 4834	NM_000441.2(SLC26A4):c.397T>A (p.Ser133Thr)	SLC26A4 (S133T)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic/Likely pathogenic
Select item 554308	NM_000441.2(SLC26A4):c.400A>G (p.Arg134Gly)	SLC26A4 (R134G)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 551096	NM_000441.2(SLC26A4):c.409T>C (p.Ser137Pro)	SLC26A4 (S137P)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 556058	NM_000441.2(SLC26A4):c.412G>C (p.Val138Leu)	SLC26A4 (V138L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 558397	NM_000441.2(SLC26A4):c.415+5_415+10del	SLC26A4	Deletion (splice donor variant)	Pendred syndrome	GUncertain significance
Select item 504512	NM_000441.2(SLC26A4):c.415+4A>G	SLC26A4	Single nucleotide variant (intron variant)	not specified +3 more	GUncertain significance
Select item 445575	NM_000441.2(SLC26A4):c.416-16G>T	SLC26A4	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 371079	NM_000441.2(SLC26A4):c.416-1G>A	SLC26A4	Single nucleotide variant (splice acceptor variant)	SLC26A4-related disorder +3 more	GPathogenic
Select item 556091	NM_000441.2(SLC26A4):c.416G>C (p.Gly139Ala)	SLC26A4 (G139A)	Single nucleotide variant (missense variant)	Pendred syndrome +1 more	GConflicting classifications of pathogenicity
Select item 556648	NM_000441.2(SLC26A4):c.440T>C (p.Met147Thr)	SLC26A4 (M147T)	Single nucleotide variant (missense variant)	Pendred syndrome +1 more	GPathogenic/Likely pathogenic
Select item 229258	NM_000441.2(SLC26A4):c.441G>A (p.Met147Ile)	SLC26A4 (M147I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity
Select item 556439	NM_000441.2(SLC26A4):c.445G>A (p.Gly149Arg)	SLC26A4 (G149R)	Single nucleotide variant (missense variant)	Hearing impairment +2 more	GUncertain significance
Select item 552989	NM_000441.2(SLC26A4):c.454del (p.Val152fs)	SLC26A4 (V152fs)	Deletion (frameshift variant)	Pendred syndrome	GLikely pathogenic
Select item 550516	NM_000441.2(SLC26A4):c.481T>A (p.Phe161Ile)	SLC26A4 (F161I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 550607	NM_000441.2(SLC26A4):c.487G>A (p.Val163Ile)	SLC26A4 (V163I)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 552900	NM_000441.2(SLC26A4):c.501_502insCAA (p.Asn167_Gly168insGln)	SLC26A4	Insertion (inframe_insertion)	Pendred syndrome	GUncertain significance
Select item 43559	NM_000441.2(SLC26A4):c.545A>T (p.Asp182Val)	SLC26A4 (D182V)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 188878	NM_000441.2(SLC26A4):c.554G>C (p.Arg185Thr)	SLC26A4 (R185T)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 556671	NM_000441.2(SLC26A4):c.556G>T (p.Val186Phe)	SLC26A4 (V186F)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 551311	NM_000441.2(SLC26A4):c.563T>C (p.Ile188Thr)	SLC26A4 (I188T)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic/Likely pathogenic
Select item 4830	NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)	SLC26A4 (T193I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GPathogenic/Likely pathogenic
Select item 370937	NM_000441.2(SLC26A4):c.600+2T>A	SLC26A4	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic
Select item 370676	NM_000441.2(SLC26A4):c.619C>T (p.Gln207Ter)	SLC26A4 (Q207*)	Single nucleotide variant (nonsense)	Pendred syndrome +1 more	GPathogenic/Likely pathogenic
Select item 558506	NM_000441.2(SLC26A4):c.665G>C (p.Gly222Ala)	SLC26A4 (G222A)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 43564	NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)	SLC26A4 (V233L)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity
Select item 43565	NM_000441.2(SLC26A4):c.706C>G (p.Leu236Val)	SLC26A4 (L236V)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 43566	NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	SLC26A4 (V239D)	Single nucleotide variant (missense variant)	Pendred syndrome +3 more	GConflicting classifications of pathogenicity
Select item 558078	NM_000441.2(SLC26A4):c.737del (p.Asn246fs)	SLC26A4 (N246fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 551090	NM_000441.2(SLC26A4):c.765_765+3del	SLC26A4	Deletion (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 557367	NM_000441.2(SLC26A4):c.765+4A>C	SLC26A4	Single nucleotide variant (intron variant)	Pendred syndrome	GUncertain significance
Select item 165247	NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile)	SLC26A4 (M283I)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 371404	NM_000441.2(SLC26A4):c.858_865del (p.Lys286_Glu287insTer)	SLC26A4	Deletion (frameshift variant)	Pendred syndrome	GLikely pathogenic
Select item 188977	NM_000441.2(SLC26A4):c.890del (p.Pro297fs)	SLC26A4 (P297fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 558188	NM_000441.2(SLC26A4):c.890C>A (p.Pro297Gln)	SLC26A4 (P297Q)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 43570	NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu)	SLC26A4 (I300L)	Single nucleotide variant (missense variant)	Pendred syndrome +3 more	GBenign/Likely benign
Select item 370192	NM_000441.2(SLC26A4):c.916dup (p.Val306fs)	SLC26A4 (V306fs)	Duplication (frameshift variant)	Pendred syndrome +2 more	GPathogenic/Likely pathogenic
Select item 43571	NM_000441.2(SLC26A4):c.918+1G>T	SLC26A4	Single nucleotide variant (splice donor variant)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 557111	NM_000441.2(SLC26A4):c.919-19_932del	SLC26A4	Deletion (splice acceptor variant)	Pendred syndrome	GLikely pathogenic
Select item 555347	NM_000441.2(SLC26A4):c.919-18T>G	SLC26A4	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 558589	NM_000441.2(SLC26A4):c.929C>T (p.Ala310Val)	SLC26A4 (A310V)	Single nucleotide variant (missense variant)	Pendred syndrome +1 more	GConflicting classifications of pathogenicity
Select item 43574	NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr)	SLC26A4 (N324Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GBenign/Likely benign
Select item 189039	NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)	SLC26A4 (G334V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 370123	NM_000441.2(SLC26A4):c.1001+1G>T	SLC26A4	Single nucleotide variant (splice donor variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 551318	NM_000441.2(SLC26A4):c.1001+4A>G	SLC26A4	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GConflicting classifications of pathogenicity
Select item 557483	NM_000441.2(SLC26A4):c.1001+5G>T	SLC26A4	Single nucleotide variant (intron variant)	Pendred syndrome	GUncertain significance
Select item 550331	NM_000441.2(SLC26A4):c.1001+30A>G	SLC26A4	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 43489	NM_000441.2(SLC26A4):c.1002-9A>C	SLC26A4	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 188793	NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)	SLC26A4 (A360V)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic/Likely pathogenic
Select item 553253	NM_000441.2(SLC26A4):c.1105A>T (p.Lys369Ter)	SLC26A4 (K369*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 553520	NM_000441.2(SLC26A4):c.1147del (p.Gln383fs)	SLC26A4 (Q383fs)	Deletion (frameshift variant)	Pendred syndrome +1 more	GPathogenic
Select item 370578	NM_000441.2(SLC26A4):c.1160C>T (p.Ala387Val)	SLC26A4 (A387V)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic/Likely pathogenic
Select item 371146	NM_000441.2(SLC26A4):c.1173C>A (p.Ser391Arg)	SLC26A4 (S391R)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic
Select item 370463	NM_000441.2(SLC26A4):c.1178TCT[1] (p.Phe394del)	SLC26A4 (F394del)	Microsatellite (inframe_deletion)	Pendred syndrome +2 more	GPathogenic/Likely pathogenic
Select item 43494	NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)	SLC26A4 (C400fs)	Deletion	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GPathogenic/Likely pathogenic
Select item 371421	NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)	SLC26A4 (R409C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 43499	NM_000441.2(SLC26A4):c.1234G>A (p.Val412Ile)	SLC26A4 (V412I)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 370255	NM_000441.2(SLC26A4):c.1238del (p.Gln413fs)	SLC26A4 (Q413fs)	Deletion (frameshift variant)	Pendred syndrome	GLikely pathogenic
Select item 370080	NM_000441.2(SLC26A4):c.1238A>G (p.Gln413Arg)	SLC26A4 (Q413R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 550078	NM_000441.2(SLC26A4):c.1252G>A (p.Gly418Arg)	SLC26A4 (G418R)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 556159	NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro)	SLC26A4 (Q421P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 430229	NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)	SLC26A4 (Q421R)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance FDA Recognized database

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