C0271829[trait identifier] AND "Natera, Inc."[submitter] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 43487	NM_000441.2(SLC26A4):c.-66C>G	SLC26A4, SLC26A4-AS1	Single nucleotide variant	not specified +3 more	GBenign/Likely benign
Select item 43553	NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr)	SLC26A4, SLC26A4-AS1 (M1T)	Single nucleotide variant (non-coding transcript variant +2 more)	not provided +5 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)	not specified +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)	not provided +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	SLC26A4-related condition +3 more	GConflicting classifications of pathogenicity
Select item 370620	NM_000441.2(SLC26A4):c.55del (p.Ser19fs)	SLC26A4, SLC26A4-AS1 (S19fs)	Deletion (non-coding transcript variant +1 more)	not provided +1 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 4839	NM_000441.2(SLC26A4):c.85G>C (p.Glu29Gln)	SLC26A4, SLC26A4-AS1 (E29Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Rare genetic deafness +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 794745	NM_000441.2(SLC26A4):c.135G>T (p.Thr45=)	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	SLC26A4-related condition +1 more	GLikely benign
Select item 227949	NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)	SLC26A4-AS1, SLC26A4 (S49R)	Single nucleotide variant (missense variant +1 more)	Pendred syndrome	GLikely benign FDA Recognized database
Select item 188838	NM_000441.2(SLC26A4):c.164+1del	SLC26A4	Deletion (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 43518	NM_000441.2(SLC26A4):c.164+2T>C	SLC26A4	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 828068	NM_000441.2(SLC26A4):c.165-1G>A	SLC26A4	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 1075541	NM_000441.2(SLC26A4):c.170C>A (p.Ser57Ter)	SLC26A4 (S57*)	Single nucleotide variant (nonsense)	Rare genetic deafness +2 more	GPathogenic
Select item 990098	NM_000441.2(SLC26A4):c.187G>A (p.Gly63Ser)	SLC26A4 (G63S)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 225473	NM_000441.2(SLC26A4):c.225C>G (p.Leu75=)	SLC26A4	Single nucleotide variant (synonymous variant)	Hearing impairment +5 more	GConflicting classifications of pathogenicity
Select item 188715	NM_000441.2(SLC26A4):c.279del (p.Ser93fs)	SLC26A4 (S93fs)	Deletion (frameshift variant)	not specified +3 more	GPathogenic/Likely pathogenic
Select item 1196044	NM_000441.2(SLC26A4):c.340G>A (p.Gly114Arg)	SLC26A4 (G114R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 189148	NM_000441.2(SLC26A4):c.365dup (p.Ile124fs)	SLC26A4 (I124fs)	Duplication (frameshift variant)	Pendred syndrome	GPathogenic FDA Recognized database
Select item 1215297	NM_000441.2(SLC26A4):c.406A>G (p.Ile136Val)	SLC26A4 (I136V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
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)	not provided +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 229259	NM_000441.2(SLC26A4):c.463A>G (p.Met155Val)	SLC26A4 (M155V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 805474	NM_000441.2(SLC26A4):c.475G>A (p.Glu159Lys)	SLC26A4 (E159K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 667159	NM_000441.2(SLC26A4):c.486C>T (p.Leu162=)	SLC26A4	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1095500	NM_000441.2(SLC26A4):c.510A>G (p.Val170=)	SLC26A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 43560	NM_000441.2(SLC26A4):c.565G>T (p.Ala189Ser)	SLC26A4 (A189S)	Single nucleotide variant (missense variant)	Pendred syndrome	GBenign FDA Recognized database
Select item 43561	NM_000441.2(SLC26A4):c.572C>T (p.Ala191Val)	SLC26A4 (A191V)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 4821	NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)	SLC26A4 (G209V)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 43564	NM_000441.2(SLC26A4):c.697G>C (p.Val233Leu)	SLC26A4 (V233L)	Single nucleotide variant (missense variant)	not provided +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)	Rare genetic deafness +6 more	GPathogenic/Likely pathogenic
Select item 43566	NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	SLC26A4 (V239D)	Single nucleotide variant (missense variant)	Rare genetic deafness +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 1065210	NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro)	SLC26A4 (S252P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
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 165247	NM_000441.2(SLC26A4):c.849G>C (p.Met283Ile)	SLC26A4 (M283I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 505030	NM_000441.2(SLC26A4):c.871C>T (p.Arg291Trp)	SLC26A4 (R291W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 811579	NM_000441.2(SLC26A4):c.886A>G (p.Ile296Val)	SLC26A4 (I296V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 43570	NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu)	SLC26A4 (I300L)	Single nucleotide variant (missense variant)	SLC26A4-related condition +4 more	GBenign/Likely benign
Select item 370192	NM_000441.2(SLC26A4):c.916dup (p.Val306fs)	SLC26A4 (V306fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 370108	NM_000441.2(SLC26A4):c.918+2T>C	SLC26A4	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 555347	NM_000441.2(SLC26A4):c.919-18T>G	SLC26A4	Single nucleotide variant (intron variant)	Pendred syndrome +1 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 43573	NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp)	SLC26A4 (N322D)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 43574	NM_000441.2(SLC26A4):c.970A>T (p.Asn324Tyr)	SLC26A4 (N324Y)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 990099	NM_000441.2(SLC26A4):c.977G>C (p.Gly326Ala)	SLC26A4 (G326A)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 189039	NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)	SLC26A4 (G334V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 4819	NM_000441.2(SLC26A4):c.1001+1G>A	SLC26A4	Single nucleotide variant (splice donor variant)	Rare genetic deafness +4 more	GPathogenic
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 199023	NM_000441.2(SLC26A4):c.1040C>T (p.Ser347Leu)	SLC26A4 (S347L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 1214607	NM_000441.2(SLC26A4):c.1047G>A (p.Met349Ile)	SLC26A4 (M349I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 179617	NM_000441.2(SLC26A4):c.1050G>A (p.Leu350=)	SLC26A4	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 43490	NM_000441.2(SLC26A4):c.1054G>A (p.Ala352Thr)	SLC26A4 (A352T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 43491	NM_000441.2(SLC26A4):c.1069G>A (p.Ala357Thr)	SLC26A4 (A357T)	Single nucleotide variant (missense variant)	Pendred syndrome	GBenign FDA Recognized database
Select item 188793	NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)	SLC26A4 (A360V)	Single nucleotide variant (missense variant)	not provided +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)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 446453	NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)	SLC26A4 (N392Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 43494	NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)	SLC26A4 (C400fs)	Deletion	Rare genetic deafness +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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 43496	NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	SLC26A4 (R409H)	Single nucleotide variant (missense variant)	Rare genetic deafness +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 287878	NM_000441.2(SLC26A4):c.1233C>T (p.Ala411=)	SLC26A4	Single nucleotide variant (synonymous variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 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 specified +3 more	GUncertain significance
Select item 4818	NM_000441.2(SLC26A4):c.1246A>C (p.Thr416Pro)	SLC26A4 (T416P)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GConflicting classifications of pathogenicity
Select item 758646	NM_000441.2(SLC26A4):c.1257G>A (p.Lys419=)	SLC26A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 707982	NM_000441.2(SLC26A4):c.1264-4C>T	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 43500	NM_000441.2(SLC26A4):c.1264-1G>C	SLC26A4	Single nucleotide variant (splice acceptor variant)	Rare genetic deafness +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 1111004	NM_000441.2(SLC26A4):c.1287G>A (p.Ala429=)	SLC26A4	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 4829	NM_000441.2(SLC26A4):c.1334T>G (p.Leu445Trp)	SLC26A4 (L445W)	Single nucleotide variant (missense variant)	Rare genetic deafness +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 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 43507	NM_000441.2(SLC26A4):c.1363A>T (p.Ile455Phe)	SLC26A4 (I455F)	Single nucleotide variant (missense variant)	Pendred syndrome	GBenign FDA Recognized database
Select item 43510	NM_000441.2(SLC26A4):c.1489G>A (p.Gly497Ser)	SLC26A4 (G497S)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GConflicting classifications of pathogenicity
Select item 712915	NM_000441.2(SLC26A4):c.1491T>C (p.Gly497=)	SLC26A4	Single nucleotide variant (synonymous variant)	not provided +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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 165255	NM_000441.2(SLC26A4):c.1544+9C>T	SLC26A4	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 43513	NM_000441.2(SLC26A4):c.1545-5T>G	SLC26A4	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 188759	NM_000441.2(SLC26A4):c.1547dup (p.Ser517fs)	SLC26A4 (S517fs)	Duplication (frameshift variant)	not provided +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 43517	NM_000441.2(SLC26A4):c.1614C>T (p.Asn538=)	SLC26A4	Single nucleotide variant (synonymous variant)	Pendred syndrome	GLikely benign FDA Recognized database
Select item 43516	NM_000441.2(SLC26A4):c.1614+1G>A	SLC26A4	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 592938	NM_000441.2(SLC26A4):c.1614+7A>G	SLC26A4	Single nucleotide variant (intron variant)	SLC26A4-related condition +4 more	GConflicting classifications of pathogenicity
Select item 1033029	NM_000441.2(SLC26A4):c.1615-2A>G	SLC26A4	Single nucleotide variant (splice acceptor variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic/Likely pathogenic
Select item 229253	NM_000441.2(SLC26A4):c.1616T>C (p.Ile539Thr)	SLC26A4 (I539T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 229254	NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn)	SLC26A4 (D560N)	Single nucleotide variant (missense variant)	not specified +2 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
Select item 43519	NM_000441.2(SLC26A4):c.1694G>A (p.Cys565Tyr)	SLC26A4 (C565Y)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 990100	NM_000441.2(SLC26A4):c.1696A>G (p.Ile566Val)	SLC26A4 (I566V)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 446457	NM_000441.2(SLC26A4):c.1707+5G>A	SLC26A4	Single nucleotide variant (intron variant)	Pendred syndrome +2 more	GPathogenic

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