"Counsyl"[submitter] AND "LOC123956210"[gene] - ClinVar - NCBI

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

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 553831	NM_000441.2(SLC26A4):c.2090-1G>A	LOC123956210, SLC26A4	Single nucleotide variant (splice acceptor variant)	Pendred syndrome +1 more	GLikely pathogenic
Select item 557592	NM_000441.2(SLC26A4):c.2110G>A (p.Glu704Lys)	LOC123956210, SLC26A4 (E704K)	Single nucleotide variant (missense variant)	Pendred syndrome	GUncertain significance
Select item 551315	NM_000441.2(SLC26A4):c.2118C>A (p.Cys706Ter)	LOC123956210, SLC26A4 (C706*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 188869	NM_000441.2(SLC26A4):c.2127del (p.Phe709fs)	LOC123956210, SLC26A4 (F709fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 43539	NM_000441.2(SLC26A4):c.2131G>A (p.Asp711Asn)	LOC123956210, SLC26A4 (D711N)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 550239	NM_000441.2(SLC26A4):c.2132ACA[1] (p.Asn712del)	LOC123956210, SLC26A4 (N712del)	Microsatellite (inframe_deletion)	Pendred syndrome	GUncertain significance
Select item 43540	NM_000441.2(SLC26A4):c.2139T>G (p.Ile713Met)	LOC123956210, SLC26A4 (I713M)	Single nucleotide variant (missense variant)	SLC26A4-related condition +3 more	GBenign/Likely benign
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)	Rare genetic deafness +3 more	GPathogenic
Select item 553188	NM_000441.2(SLC26A4):c.2170G>A (p.Asp724Asn)	LOC123956210, SLC26A4 (D724N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 228396	NM_000441.2(SLC26A4):c.2171A>G (p.Asp724Gly)	LOC123956210, SLC26A4 (D724G)	Single nucleotide variant (missense variant)	SLC26A4-Related Disorders +4 more	GPathogenic/Likely pathogenic
Select item 552774	NM_000441.2(SLC26A4):c.2177_2178dup (p.Leu727fs)	LOC123956210, SLC26A4 (L727fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552468	NM_000441.2(SLC26A4):c.2186T>C (p.Leu729Pro)	SLC26A4, LOC123956210 (L729P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 43543	NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His)	LOC123956210, SLC26A4 (Q730H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity