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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60284	GRCh38/hg38 7q22.3-31.1(chr7:106261939-111228036)x1	DUS4L, DUS4L-BCAP29 +92 more	Copy number loss	See cases	GPathogenic
Select item 4838	NC_000007.14:g.107660756T>C	SLC26A4, SLC26A4-AS1	Single nucleotide variant	Pendred syndrome	GUncertain significance FDA Recognized database
Select item 43488	NC_000007.14:g.107660793C>T	SLC26A4-AS1, SLC26A4	Single nucleotide variant	not provided +1 more	GConflicting classifications of pathogenicity
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 1691740	NC_000007.14:g.107660808G>A	SLC26A4, SLC26A4-AS1	Single nucleotide variant	not provided	GUncertain significance
Select item 1267269	NM_000441.2(SLC26A4):c.-4+90T>G	SLC26A4, SLC26A4-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217919	NM_000441.2(SLC26A4):c.-3-261C>T	SLC26A4, SLC26A4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1198155	NM_000441.2(SLC26A4):c.-3-195C>T	SLC26A4, SLC26A4-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1209241	NM_000441.2(SLC26A4):c.-3-109dup	SLC26A4, SLC26A4-AS1	Duplication (intron variant)	not provided	GLikely benign
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 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 2576933	NM_000441.2(SLC26A4):c.25G>A (p.Glu9Lys)	SLC26A4, SLC26A4-AS1 (E9K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1306037	NM_000441.2(SLC26A4):c.65T>C (p.Val22Ala)	SLC26A4, SLC26A4-AS1 (V22A)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 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 1707108	NM_000441.2(SLC26A4):c.154A>G (p.Lys52Glu)	SLC26A4, SLC26A4-AS1 (K52E)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
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 1296884	NM_000441.2(SLC26A4):c.164+150T>A	SLC26A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239194	NM_000441.2(SLC26A4):c.165-119A>T	SLC26A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228891	NM_000441.2(SLC26A4):c.165-113C>T	SLC26A4	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1313782	NM_000441.2(SLC26A4):c.181G>T (p.Ala61Ser)	SLC26A4 (A61S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 511749	NM_000441.2(SLC26A4):c.183C>T (p.Ala61=)	SLC26A4	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 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 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 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 1306735	NM_000441.2(SLC26A4):c.277A>C (p.Ser93Arg)	SLC26A4 (S93R)	Single nucleotide variant (missense variant)	not provided	GLikely 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 2166819	NM_000441.2(SLC26A4):c.290T>C (p.Val97Ala)	SLC26A4 (V97A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343610	NM_000441.2(SLC26A4):c.296C>A (p.Thr99Lys)	SLC26A4 (T99K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 373979	NM_000441.2(SLC26A4):c.299T>C (p.Leu100Pro)	SLC26A4 (L100P)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 620294	NM_000441.2(SLC26A4):c.301C>T (p.Gln101Ter)	SLC26A4 (Q101*)	Single nucleotide variant (nonsense)	not provided	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 1279156	NM_000441.2(SLC26A4):c.304+316C>T	SLC26A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217017	NM_000441.2(SLC26A4):c.305-201C>A	LOC129389839, SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 1331257	NM_000441.2(SLC26A4):c.401G>T (p.Arg134Ile)	SLC26A4 (R134I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3363985	NM_000441.2(SLC26A4):c.407T>C (p.Ile136Thr)	SLC26A4 (I136T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 504512	NM_000441.2(SLC26A4):c.415+4A>G	SLC26A4	Single nucleotide variant (intron variant)	not specified +3 more	GUncertain significance
Select item 1207083	NM_000441.2(SLC26A4):c.415+75T>C	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1251718	NM_000441.2(SLC26A4):c.416-196C>T	SLC26A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1191491	NM_000441.2(SLC26A4):c.416-181dup	SLC26A4	Duplication (intron variant)	not provided	GLikely benign
Select item 1183165	NM_000441.2(SLC26A4):c.416-123C>A	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1214249	NM_000441.2(SLC26A4):c.416-7del	SLC26A4	Deletion (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 43557	NM_000441.2(SLC26A4):c.416-13T>C	SLC26A4	Single nucleotide variant (intron variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity
Select item 1702586	NM_000441.2(SLC26A4):c.416-12T>A	SLC26A4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 43558	NM_000441.2(SLC26A4):c.416-7T>C	SLC26A4	Single nucleotide variant (intron variant)	Pendred syndrome	GBenign 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 1314132	NM_000441.2(SLC26A4):c.424C>T (p.Pro142Ser)	SLC26A4 (P142S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +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 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 2505817	NM_000441.2(SLC26A4):c.454G>A (p.Val152Ile)	SLC26A4 (V152I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3369705	NM_000441.2(SLC26A4):c.493A>G (p.Ser165Gly)	SLC26A4 (S165G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577828	NM_000441.2(SLC26A4):c.527T>C (p.Ile176Thr)	SLC26A4 (I176T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 817026	NM_000441.2(SLC26A4):c.537_538delinsC (p.Ala180fs)	SLC26A4 (A180fs)	Indel (frameshift variant)	not provided	GLikely pathogenic
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 2627317	NM_000441.2(SLC26A4):c.596T>C (p.Ile199Thr)	SLC26A4 (I199T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1218543	NM_000441.2(SLC26A4):c.600+83C>G	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226912	NM_000441.2(SLC26A4):c.601-266T>G	SLC26A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1284452	NM_000441.2(SLC26A4):c.601-17C>T	SLC26A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3371274	NM_000441.2(SLC26A4):c.616T>G (p.Leu206Val)	SLC26A4 (L206V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2151096	NM_000441.2(SLC26A4):c.637A>T (p.Arg213Trp)	SLC26A4 (R213W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2505981	NM_000441.2(SLC26A4):c.664G>T (p.Gly222Cys)	SLC26A4 (G222C)	Single nucleotide variant (missense variant)	not provided	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 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 1568645	NM_000441.2(SLC26A4):c.732C>G (p.Thr244=)	SLC26A4	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1203752	NM_000441.2(SLC26A4):c.765+5G>A	SLC26A4	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2429655	NM_000441.2(SLC26A4):c.765+196_765+197dup	SLC26A4	Duplication (intron variant)	not provided	GLikely benign
Select item 1187685	NM_000441.2(SLC26A4):c.765+197dup	SLC26A4	Duplication (intron variant)	not provided	GLikely benign
Select item 1289632	NM_000441.2(SLC26A4):c.765+197del	SLC26A4	Deletion (intron variant)	not provided	GBenign
Select item 1272917	NM_000441.2(SLC26A4):c.765+196_765+197del	SLC26A4	Deletion (intron variant)	not provided	GBenign
Select item 1282134	NM_000441.2(SLC26A4):c.765+194A>G	SLC26A4	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1213321	NM_000441.2(SLC26A4):c.765+196_765+197insGAA	SLC26A4	Insertion (intron variant)	not provided	GLikely benign
Select item 1207733	NM_000441.2(SLC26A4):c.765+232dup	SLC26A4	Duplication (intron variant)	not provided	GLikely benign
Select item 1214753	NM_000441.2(SLC26A4):c.765+249T>C	SLC26A4	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1313170	NM_000441.2(SLC26A4):c.803A>G (p.Asn268Ser)	SLC26A4 (N268S)	Single nucleotide variant (missense variant)	Pendred syndrome +3 more	GUncertain significance
Select item 1297069	NM_000441.2(SLC26A4):c.812A>G (p.Asp271Gly)	SLC26A4 (D271G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
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 provided +2 more	GBenign/Likely benign
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 1306822	NM_000441.2(SLC26A4):c.895C>T (p.Pro299Ser)	SLC26A4 (P299S)	Single nucleotide variant (missense variant)	not provided	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 370108	NM_000441.2(SLC26A4):c.918+2T>C	SLC26A4	Single nucleotide variant (splice donor variant)	Pendred syndrome +2 more	GConflicting classifications of pathogenicity

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