"Baylor Genetics"[submitter] AND "LOC123956210"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1929401	NM_000441.2(SLC26A4):c.2113C>T (p.Gln705Ter)	LOC123956210, SLC26A4 (Q705*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 551315	NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter)	LOC123956210, SLC26A4 (C706*)	Single nucleotide variant (nonsense)	Pendred syndrome +2 more	GPathogenic
Select item 188869	NM_000441.2(SLC26A4):c.2127del (p.Phe709fs)	LOC123956210, SLC26A4 (F709fs)	Deletion (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
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 4826	NM_000441.2(SLC26A4):c.2162C>T (p.Thr721Met)	LOC123956210, SLC26A4 (T721M)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GPathogenic
Select item 949741	NM_000441.2(SLC26A4):c.2167C>G (p.His723Asp)	LOC123956210, SLC26A4 (H723D)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic
Select item 4825	NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)	LOC123956210, SLC26A4 (H723R)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +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)	Autosomal recessive nonsyndromic hearing loss 4 +4 more	GPathogenic/Likely pathogenic
Select item 851431	NM_000441.2(SLC26A4):c.2174_2177dup (p.Leu727fs)	LOC123956210, SLC26A4 (L727fs)	Duplication (frameshift variant)	Pendred syndrome +2 more	GPathogenic
Select item 1033030	NM_000441.2(SLC26A4):c.2184_2187dup (p.Gln730fs)	LOC123956210, SLC26A4 (Q730fs)	Microsatellite (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 552468	NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro)	LOC123956210, SLC26A4 (L729P)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic/Likely pathogenic