"Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, E - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4838	NM_000441.1(SLC26A4):c.-103T>C	SLC26A4, SLC26A4-AS1	Single nucleotide variant	Pendred syndrome	GUncertain significance FDA Recognized database
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)	Autosomal recessive nonsyndromic hearing loss 4 +4 more	GPathogenic
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 1297681	NM_000441.2(SLC26A4):c.347G>A (p.Gly116Asp)	SLC26A4 (G116D)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 43557	NM_000441.2(SLC26A4):c.416-13T>C	SLC26A4	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 4817	NM_000441.2(SLC26A4):c.707T>C (p.Leu236Pro)	SLC26A4 (L236P)	Single nucleotide variant (missense variant)	SLC26A4-related disorder +5 more	GPathogenic/Likely pathogenic
Select item 43566	NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	SLC26A4 (V239D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity
Select item 43570	NM_000441.2(SLC26A4):c.898A>C (p.Ile300Leu)	SLC26A4 (I300L)	Single nucleotide variant (missense variant)	SLC26A4-related disorder +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 43573	NM_000441.2(SLC26A4):c.964A>G (p.Asn322Asp)	SLC26A4 (N322D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +4 more	GConflicting classifications of pathogenicity
Select item 4819	NM_000441.2(SLC26A4):c.1001+1G>A	SLC26A4	Single nucleotide variant (splice donor variant)	Pendred syndrome +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 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 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 43509	NM_000441.2(SLC26A4):c.1488C>T (p.Leu496=)	SLC26A4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 256155	NM_000441.2(SLC26A4):c.1708-18T>A	SLC26A4	Single nucleotide variant (intron variant)	Pendred syndrome	GBenign FDA Recognized database
Select item 43525	NM_000441.2(SLC26A4):c.1790T>C (p.Leu597Ser)	SLC26A4 (L597S)	Single nucleotide variant (missense variant)	not provided +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)	not provided +3 more	GBenign/Likely benign
Select item 43538	NM_000441.2(SLC26A4):c.2130C>T (p.Asp710=)	LOC123956210, SLC26A4	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 43544	NM_000441.2(SLC26A4):c.2218G>A (p.Gly740Ser)	SLC26A4 (G740S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GBenign/Likely benign
Select item 1174655	NM_000441.2(SLC26A4):c.2272_2273insCTT (p.Glu757_Leu758insSer)	SLC26A4	Insertion (inframe_insertion)	not provided	GUncertain significance
Select item 43547	NM_000441.2(SLC26A4):c.2326C>T (p.Arg776Cys)	SLC26A4 (R776C)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity

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Items: 23