"ClinGen Hearing Loss Variant Curation Expert Panel"[submitter] AND "S - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 4838	NC_000007.14:g.107660756T>C	SLC26A4, SLC26A4-AS1	Single nucleotide variant	Pendred syndrome	GUncertain significance FDA Recognized database
Select item 227949	NM_000441.2(SLC26A4):c.147C>G (p.Ser49Arg)	SLC26A4, SLC26A4-AS1 (S49R)	Single nucleotide variant (missense variant +1 more)	Pendred syndrome	GLikely benign FDA Recognized database
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 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 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 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 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 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 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 4840	NM_000441.2(SLC26A4):c.919-2A>G	SLC26A4	Single nucleotide variant (splice acceptor variant)	Pendred syndrome	GPathogenic FDA Recognized database
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 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 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 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 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 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 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 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 256155	NM_000441.2(SLC26A4):c.1708-18T>A	SLC26A4	Single nucleotide variant (intron variant)	Pendred syndrome	GBenign FDA Recognized database
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 43527	NM_000441.2(SLC26A4):c.1924T>C (p.Ser642Pro)	SLC26A4 (S642P)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance FDA Recognized database
Select item 43528	NM_000441.2(SLC26A4):c.1963A>G (p.Ile655Val)	SLC26A4 (I655V)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
Select item 43541	NM_000441.2(SLC26A4):c.2145G>T (p.Lys715Asn)	LOC123956210, SLC26A4 (K715N)	Single nucleotide variant (missense variant)	Pendred syndrome	GLikely pathogenic FDA Recognized database
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

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