"Baylor Genetics"[submitter] AND "SLC26A4-AS1"[gene] - ClinVar - NCBI

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Items: 7

	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)	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 1073256	NM_000441.2(SLC26A4):c.25G>T (p.Glu9Ter)	SLC26A4, SLC26A4-AS1 (E9*)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4 +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)	Autosomal recessive nonsyndromic hearing loss 4 +4 more	GPathogenic/Likely pathogenic
Select item 644957	NM_000441.2(SLC26A4):c.130delinsTTG (p.Lys44fs)	SLC26A4-AS1, SLC26A4 (K44fs)	Indel (non-coding transcript variant +1 more)	Autosomal recessive nonsyndromic hearing loss 4 +1 more	GPathogenic/Likely pathogenic
Select item 371369	NM_000441.2(SLC26A4):c.142G>T (p.Glu48Ter)	SLC26A4, SLC26A4-AS1 (E48*)	Single nucleotide variant (non-coding transcript variant +1 more)	Pendred syndrome +2 more	GPathogenic/Likely pathogenic