"Fulgent Genetics, Fulgent Genetics"[submitter] AND "SLC26A4"[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 43486	NM_000441.2(SLC26A4):c.-3-2A>G	SLC26A4, SLC26A4-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +4 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)	SLC26A4-related disorder +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)	not provided +2 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)	Pendred syndrome +3 more	GUncertain significance
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 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 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 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)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GPathogenic
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 4830	NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)	SLC26A4 (T193I)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 43562	NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)	SLC26A4 (G197R)	Single nucleotide variant (missense 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)	SLC26A4-related disorder +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)	Hearing impairment +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 1065210	NM_000441.2(SLC26A4):c.754T>C (p.Ser252Pro)	SLC26A4 (S252P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1132489	NM_000441.2(SLC26A4):c.768G>A (p.Thr256=)	SLC26A4	Single nucleotide variant (synonymous variant)	not provided +2 more	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 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 43570	NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu)	SLC26A4 (I300L)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign/Likely benign
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 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 1153220	NM_000441.2(SLC26A4):c.990C>T (p.Ser330=)	SLC26A4	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
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)	SLC26A4-related disorder +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 1685126	NM_000441.2(SLC26A4):c.1124A>G (p.Tyr375Cys)	SLC26A4 (Y375C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity
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)	SLC26A4-related disorder +4 more	GPathogenic/Likely pathogenic
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 43496	NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	SLC26A4 (R409H)	Single nucleotide variant (missense variant)	Ear malformation +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 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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 43500	NM_000441.2(SLC26A4):c.1264-1G>C	SLC26A4	Single nucleotide variant (splice acceptor variant)	not provided +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 1331489	NM_000441.2(SLC26A4):c.1286C>A (p.Ala429Glu)	SLC26A4 (A429E)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 591607	NM_000441.2(SLC26A4):c.1301C>A (p.Ala434Asp)	SLC26A4 (A434D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GUncertain significance
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 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 550964	NM_000441.2(SLC26A4):c.1409G>A (p.Arg470His)	SLC26A4 (R470H)	Single nucleotide variant (missense variant)	Pendred syndrome +1 more	GUncertain significance
Select item 4841	NM_000441.2(SLC26A4):c.1540C>A (p.Gln514Lys)	SLC26A4 (Q514K)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic
Select item 43513	NM_000441.2(SLC26A4):c.1545-5T>G	SLC26A4	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
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 229254	NM_000441.2(SLC26A4):c.1678G>A (p.Asp560Asn)	SLC26A4 (D560N)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GConflicting classifications of pathogenicity
Select item 552759	NM_000441.2(SLC26A4):c.1707+2T>C	SLC26A4	Single nucleotide variant (splice donor variant)	Pendred syndrome +1 more	GLikely pathogenic
Select item 641953	NM_000441.2(SLC26A4):c.1708-1G>T	SLC26A4	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GLikely pathogenic
Select item 43521	NM_000441.2(SLC26A4):c.1708G>A (p.Val570Ile)	SLC26A4 (V570I)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 43525	NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)	SLC26A4 (L597S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity
Select item 43526	NM_000441.2(SLC26A4):c.1826T>G (p.Val609Gly)	SLC26A4 (V609G)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GBenign/Likely benign
Select item 358501	NM_000441.2(SLC26A4):c.2008G>A (p.Val670Ile)	SLC26A4 (V670I)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GUncertain significance
Select item 558599	NM_000441.2(SLC26A4):c.2009T>C (p.Val670Ala)	SLC26A4 (V670A)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GUncertain significance
Select item 179690	NM_000441.2(SLC26A4):c.2029C>T (p.Arg677Trp)	SLC26A4 (R677W)	Single nucleotide variant (missense variant)	Pendred syndrome +3 more	GConflicting classifications of pathogenicity
Select item 4825	NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)	LOC123956210, SLC26A4 (H723R)	Single nucleotide variant (missense variant)	SLC26A4-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 228396	NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)	LOC123956210, SLC26A4 (D724G)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 43544	NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)	SLC26A4 (G740S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 1309671	NM_000441.2(SLC26A4):c.2234C>T (p.Thr745Met)	SLC26A4 (T745M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GUncertain significance
Select item 43546	NM_000441.2(SLC26A4):c.2291C>T (p.Thr764Met)	SLC26A4 (T764M)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance FDA Recognized database
Select item 229257	NM_000441.2(SLC26A4):c.2317G>A (p.Glu773Lys)	SLC26A4 (E773K)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 63