C0271829[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 205824	NM_002241.5(KCNJ10):c.1061A>G (p.Lys354Arg)	KCNJ10 (K354R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +5 more	GConflicting classifications of pathogenicity
Select item 7467	NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys)	KCNJ10 (R297C)	Single nucleotide variant (missense variant)	EAST syndrome +3 more	GPathogenic/Likely pathogenic
Select item 470191	NM_002241.5(KCNJ10):c.133G>A (p.Ala45Thr)	KCNJ10 (A45T)	Single nucleotide variant (missense variant)	KCNJ10-related disorder +5 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 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 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 1075541	NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter)	SLC26A4 (S57*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic
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 370650	NM_000441.2(SLC26A4):c.249G>A (p.Trp83Ter)	SLC26A4 (W83*)	Single nucleotide variant (nonsense)	Pendred syndrome +2 more	GPathogenic
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 1705440	NM_000441.2(SLC26A4):c.346G>A (p.Gly116Ser)	SLC26A4 (G116S)	Single nucleotide variant (missense variant)	Pendred syndrome +1 more	GLikely pathogenic
Select item 551863	NM_000441.2(SLC26A4):c.349del (p.Leu117fs)	SLC26A4 (L117fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic
Select item 43555	NM_000441.2(SLC26A4):c.349C>T (p.Leu117Phe)	SLC26A4 (L117F)	Single nucleotide variant (missense variant)	Pendred syndrome	GPathogenic FDA Recognized database
Select item 189148	NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)	SLC26A4 (I124fs)	Duplication (frameshift variant)	Pendred syndrome	GPathogenic FDA Recognized database
Select item 691506	NM_000441.2(SLC26A4):c.367C>T (p.Pro123Ser)	SLC26A4 (P123S)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic/Likely pathogenic
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 4835	NM_000441.2(SLC26A4):c.412G>T (p.Val138Phe)	SLC26A4 (V138F)	Single nucleotide variant (missense variant)	Pendred syndrome	GPathogenic FDA Recognized database
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 996638	NM_000441.2(SLC26A4):c.416G>T (p.Gly139Val)	SLC26A4 (G139V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 691508	NM_000441.2(SLC26A4):c.439A>G (p.Met147Val)	SLC26A4 (M147V)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic
Select item 1028756	NM_000441.2(SLC26A4):c.515A>G (p.Asn172Ser)	SLC26A4 (N172S)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 1724218	NM_000441.2(SLC26A4):c.518dup (p.Thr174fs)	SLC26A4 (T174fs)	Duplication (frameshift variant)	Pendred syndrome +1 more	GLikely pathogenic
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 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 43562	NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)	SLC26A4 (G197R)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic
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 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 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 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 1028757	NM_000441.2(SLC26A4):c.765+4A>T	SLC26A4	Single nucleotide variant (intron variant)	Pendred syndrome	GUncertain significance
Select item 43568	NM_000441.2(SLC26A4):c.845G>A (p.Cys282Tyr)	SLC26A4 (C282Y)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
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 4840	NM_000441.2(SLC26A4):c.919-2A>G	SLC26A4	Single nucleotide variant (splice acceptor variant)	Pendred syndrome	GPathogenic FDA Recognized database
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 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 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 4833	NM_000441.2(SLC26A4):c.1002-4C>G	SLC26A4	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
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 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 43493	NM_000441.2(SLC26A4):c.1149+3A>G	SLC26A4	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic
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 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 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 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 43495	NM_000441.2(SLC26A4):c.1204G>A (p.Val402Met)	SLC26A4 (V402M)	Single nucleotide variant (missense variant)	Pendred syndrome	GPathogenic FDA Recognized database
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 43497	NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro)	SLC26A4 (R409P)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely 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 43498	NM_000441.2(SLC26A4):c.1229C>T (p.Thr410Met)	SLC26A4 (T410M)	Single nucleotide variant (missense variant)	Pendred syndrome	GPathogenic FDA Recognized database
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 430229	NM_000441.2(SLC26A4):c.1262A>G (p.Gln421Arg)	SLC26A4 (Q421R)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance FDA Recognized database
Select item 371209	NM_000441.2(SLC26A4):c.1263+1G>A	SLC26A4	Single nucleotide variant (splice donor variant)	Pendred syndrome +2 more	GPathogenic/Likely pathogenic
Select item 371092	NM_000441.2(SLC26A4):c.1263+1G>T	SLC26A4	Single nucleotide variant (splice donor variant)	Pendred syndrome +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 43501	NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del)	SLC26A4 (A429del)	Microsatellite (inframe_deletion)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GPathogenic/Likely pathogenic
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 550505	NM_000441.2(SLC26A4):c.1337A>G (p.Gln446Arg)	SLC26A4 (Q446R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 43505	NM_000441.2(SLC26A4):c.1341+1del	SLC26A4	Deletion (splice donor variant)	not provided +2 more	GPathogenic
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 43506	NM_000441.1(SLC26A4):c.1342-2_1343dup	SLC26A4	Duplication (splice acceptor variant)	not provided +3 more	GPathogenic
Select item 549979	NM_000441.2(SLC26A4):c.1343C>T (p.Ser448Leu)	SLC26A4 (S448L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 550172	NM_000441.2(SLC26A4):c.1371C>A (p.Asn457Lys)	SLC26A4 (N457K)	Single nucleotide variant (missense variant)	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 813397	NM_000441.2(SLC26A4):c.1458dup (p.Ile487fs)	SLC26A4 (I487fs)	Duplication (frameshift variant)	Pendred syndrome +1 more	GPathogenic
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 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 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 557139	NM_000441.2(SLC26A4):c.1589A>C (p.Tyr530Ser)	SLC26A4 (Y530S)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GConflicting classifications of pathogenicity
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 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 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

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