C3538946[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 260212	NM_012188.5(FOXI1):c.1044T>C (p.Tyr348=)	FOXI1	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GBenign
Select item 43485	NC_000007.14:g.107660670A>T	SLC26A4, SLC26A4-AS1	Single nucleotide variant	Pendred syndrome +2 more	GUncertain significance
Select item 358492	NC_000007.14:g.107660720C>T	SLC26A4, SLC26A4-AS1	Single nucleotide variant	not specified +3 more	GUncertain significance
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 43486	NM_000441.2(SLC26A4):c.-3-2A>G	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Pendred syndrome +3 more	GPathogenic/Likely pathogenic
Select item 43553	NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr)	SLC26A4-AS1, SLC26A4 (M1T)	Single nucleotide variant (non-coding transcript variant +2 more)	Pendred syndrome +4 more	GPathogenic
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 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 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 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 188838	NM_000441.2(SLC26A4):c.164+1del	SLC26A4	Deletion (splice donor variant)	Pendred syndrome +2 more	GPathogenic/Likely 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 828068	NM_000441.2(SLC26A4):c.165-1G>A	SLC26A4	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1209839	NM_000441.2(SLC26A4):c.188G>C (p.Gly63Ala)	SLC26A4 (G63A)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GUncertain significance
Select item 225473	NM_000441.2(SLC26A4):c.225C>G (p.Leu75=)	SLC26A4	Single nucleotide variant (synonymous variant)	not provided +4 more	GConflicting classifications of pathogenicity
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 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 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 504512	NM_000441.2(SLC26A4):c.415+4A>G	SLC26A4	Single nucleotide variant (intron variant)	not specified +3 more	GUncertain significance
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 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 667159	NM_000441.2(SLC26A4):c.486C>T (p.Leu162=)	SLC26A4	Single nucleotide variant (synonymous variant)	Pendred syndrome +3 more	GConflicting classifications of pathogenicity
Select item 423822	NM_000441.2(SLC26A4):c.535G>A (p.Ala179Thr)	SLC26A4 (A179T)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GConflicting classifications of pathogenicity
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 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 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 43562	NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)	SLC26A4 (G197R)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic
Select item 358495	NM_000441.2(SLC26A4):c.601-5C>T	SLC26A4	Single nucleotide variant (intron variant)	Pendred syndrome +2 more	GConflicting classifications of pathogenicity
Select item 4821	NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)	SLC26A4 (G209V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +4 more	GPathogenic/Likely pathogenic
Select item 910666	NM_000441.2(SLC26A4):c.678T>C (p.Ala226=)	SLC26A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 4817	NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)	SLC26A4 (L236P)	Single nucleotide variant (missense variant)	Pendred syndrome +5 more	GPathogenic/Likely pathogenic
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 1209710	NM_000441.2(SLC26A4):c.794G>C (p.Gly265Ala)	SLC26A4 (G265A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 440275	NM_000441.2(SLC26A4):c.796G>A (p.Asp266Asn)	SLC26A4 (D266N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GConflicting classifications of pathogenicity
Select item 179723	NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile)	SLC26A4 (V281I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 358496	NM_000441.2(SLC26A4):c.872G>A (p.Arg291Gln)	SLC26A4 (R291Q)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 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 370108	NM_000441.2(SLC26A4):c.918+2T>C	SLC26A4	Single nucleotide variant (splice donor variant)	Pendred syndrome +2 more	GConflicting classifications of pathogenicity
Select item 503714	NM_000441.2(SLC26A4):c.946G>T (p.Gly316Ter)	SLC26A4 (G316*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 43573	NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp)	SLC26A4 (N322D)	Single nucleotide variant (missense variant)	Pendred syndrome +3 more	GConflicting classifications of pathogenicity
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 4819	NM_000441.2(SLC26A4):c.1001+1G>A	SLC26A4	Single nucleotide variant (splice donor variant)	not provided +4 more	GPathogenic
Select item 4842	NM_000441.2(SLC26A4):c.1003T>C (p.Phe335Leu)	SLC26A4 (F335L)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 199023	NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu)	SLC26A4 (S347L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 179617	NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=)	SLC26A4	Single nucleotide variant (synonymous variant)	Pendred syndrome +3 more	GConflicting classifications of pathogenicity
Select item 43492	NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser)	SLC26A4 (F354S)	Single nucleotide variant (missense variant)	Nonsyndromic genetic hearing loss	GLikely benign FDA Recognized database
Select item 358499	NM_000441.2(SLC26A4):c.1068C>T (p.Ile356=)	SLC26A4	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GConflicting classifications of pathogenicity
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 4820	NM_000441.2(SLC26A4):c.1151A>G (p.Glu384Gly)	SLC26A4 (E384G)	Single nucleotide variant (missense variant)	Pendred syndrome +4 more	GPathogenic/Likely pathogenic
Select item 446453	NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)	SLC26A4 (N392Y)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic
Select item 554065	NM_000441.2(SLC26A4):c.1195T>C (p.Ser399Pro)	SLC26A4 (S399P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 43496	NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	SLC26A4 (R409H)	Single nucleotide variant (missense variant)	Pendred syndrome +5 more	GPathogenic/Likely pathogenic
Select item 287878	NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=)	SLC26A4	Single nucleotide variant (synonymous variant)	Pendred syndrome +2 more	GConflicting classifications of pathogenicity
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 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 4818	NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)	SLC26A4 (T416P)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +4 more	GConflicting classifications of pathogenicity
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 43500	NM_000441.2(SLC26A4):c.1264-1G>C	SLC26A4	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GPathogenic/Likely pathogenic
Select item 378599	NM_000441.2(SLC26A4):c.1265T>C (p.Val422Ala)	SLC26A4 (V422A)	Single nucleotide variant (missense variant)	Pendred syndrome +3 more	GConflicting classifications of pathogenicity
Select item 43503	NM_000441.2(SLC26A4):c.1308_1313del (p.Ala437_Leu438del)	SLC26A4	Deletion (inframe_deletion)	Pendred syndrome +3 more	GConflicting classifications of pathogenicity
Select item 4829	NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)	SLC26A4 (L445W)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 43504	NM_000441.2(SLC26A4):c.1336C>T (p.Gln446Ter)	SLC26A4 (Q446*)	Single nucleotide variant (nonsense)	Pendred syndrome +3 more	GPathogenic/Likely pathogenic
Select item 370343	NM_000441.2(SLC26A4):c.1341+1G>C	SLC26A4	Single nucleotide variant (splice donor variant)	Pendred syndrome +2 more	GPathogenic
Select item 553228	NM_000441.2(SLC26A4):c.1415G>A (p.Trp472Ter)	SLC26A4 (W472*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 43508	NM_000441.2(SLC26A4):c.1437+2T>G	SLC26A4	Single nucleotide variant (splice donor variant)	Pendred syndrome +4 more	GPathogenic/Likely pathogenic
Select item 177738	NM_000441.2(SLC26A4):c.1468A>C (p.Ile490Leu)	SLC26A4 (I490L)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 43510	NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)	SLC26A4 (G497S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +4 more	GConflicting classifications of pathogenicity
Select item 712915	NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=)	SLC26A4	Single nucleotide variant (synonymous variant)	Pendred syndrome +2 more	GConflicting classifications of pathogenicity
Select item 558262	NM_000441.2(SLC26A4):c.1511T>C (p.Phe504Ser)	SLC26A4 (F504S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GUncertain significance
Select item 188978	NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)	SLC26A4	Deletion (nonsense)	Pendred syndrome +2 more	GPathogenic/Likely pathogenic
Select item 179732	NM_000441.2(SLC26A4):c.1522A>G (p.Thr508Ala)	SLC26A4 (T508A)	Single nucleotide variant (missense variant)	Rare genetic deafness +2 more	GPathogenic/Likely pathogenic
Select item 43511	NM_000441.2(SLC26A4):c.1541A>G (p.Gln514Arg)	SLC26A4 (Q514R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic
Select item 188759	NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)	SLC26A4 (S517fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 165257	NM_000441.2(SLC26A4):c.1554G>A (p.Trp518Ter)	SLC26A4 (W518*)	Single nucleotide variant (nonsense)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 446454	NM_000441.2(SLC26A4):c.1579A>C (p.Thr527Pro)	SLC26A4 (T527P)	Single nucleotide variant (missense variant)	Pendred syndrome +1 more	GPathogenic/Likely pathogenic
Select item 189160	NM_000441.2(SLC26A4):c.1586T>G (p.Ile529Ser)	SLC26A4 (I529S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 4836	NM_000441.2(SLC26A4):c.1588T>C (p.Tyr530His)	SLC26A4 (Y530H)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 370114	NM_000441.2(SLC26A4):c.1595G>T (p.Ser532Ile)	SLC26A4 (S532I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 179170	NM_000441.2(SLC26A4):c.1614+1G>C	SLC26A4	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 43516	NM_000441.2(SLC26A4):c.1614+1G>A	SLC26A4	Single nucleotide variant (splice donor variant)	Pendred syndrome +3 more	GPathogenic
Select item 1033029	NM_000441.2(SLC26A4):c.1615-2A>G	SLC26A4	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 229253	NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr)	SLC26A4 (I539T)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 446455	NM_000441.2(SLC26A4):c.1651dup (p.Ser551fs)	SLC26A4 (S551fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 446456	NM_000441.2(SLC26A4):c.1667A>G (p.Tyr556Cys)	SLC26A4 (Y556C)	Single nucleotide variant (missense variant)	not specified +3 more	GPathogenic/Likely pathogenic
Select item 597784	NM_000441.2(SLC26A4):c.1673A>G (p.Asn558Ser)	SLC26A4 (N558S)	Single nucleotide variant (missense variant)	Pendred syndrome +3 more	GConflicting classifications of pathogenicity
Select item 627475	NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs)	SLC26A4 (C565fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic

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