"Genetic Testing Center for Deafness, Department of Otolaryngology Hea - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic
Select item 627471	NM_000441.2(SLC26A4):c.109G>T (p.Glu37Ter)	SLC26A4, SLC26A4-AS1 (E37*)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 188950	NM_000441.2(SLC26A4):c.235C>T (p.Arg79Ter)	SLC26A4 (R79*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 371034	NM_000441.2(SLC26A4):c.281C>T (p.Thr94Ile)	SLC26A4 (T94I)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 4830	NM_000441.2(SLC26A4):c.578C>T (p.Thr193Ile)	SLC26A4 (T193I)	Single nucleotide variant (missense variant)	Rare genetic deafness +3 more	GPathogenic/Likely pathogenic
Select item 627477	NM_000441.2(SLC26A4):c.589G>T (p.Gly197Ter)	SLC26A4 (G197*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 43562	NM_000441.2(SLC26A4):c.589G>A (p.Gly197Arg)	SLC26A4 (G197R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 370108	NM_000441.2(SLC26A4):c.918+2T>C	SLC26A4	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 188793	NM_000441.2(SLC26A4):c.1079C>T (p.Ala360Val)	SLC26A4 (A360V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 446453	NM_000441.2(SLC26A4):c.1174A>T (p.Asn392Tyr)	SLC26A4 (N392Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 371421	NM_000441.2(SLC26A4):c.1225C>T (p.Arg409Cys)	SLC26A4 (R409C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 43496	NM_000441.2(SLC26A4):c.1226G>A (p.Arg409His)	SLC26A4 (R409H)	Single nucleotide variant (missense variant)	Rare genetic deafness +5 more	GPathogenic/Likely pathogenic
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 556159	NM_000441.2(SLC26A4):c.1262A>C (p.Gln421Pro)	SLC26A4 (Q421P)	Single nucleotide variant (missense variant)	Pendred syndrome +2 more	GPathogenic/Likely pathogenic
Select item 627478	NM_000441.2(SLC26A4):c.1318A>T (p.Lys440Ter)	SLC26A4 (K440*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 627473	NM_000441.2(SLC26A4):c.1340del (p.Lys447fs)	SLC26A4 (K447fs)	Deletion (frameshift variant)	Pendred syndrome	GPathogenic
Select item 627472	NM_000441.2(SLC26A4):c.1339A>T (p.Lys447Ter)	SLC26A4 (K447*)	Single nucleotide variant (nonsense)	Autosomal recessive nonsyndromic hearing loss 4	GPathogenic
Select item 627474	NM_000441.2(SLC26A4):c.1343C>G (p.Ser448Trp)	SLC26A4 (S448W)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4	GLikely pathogenic
Select item 188978	NM_000441.2(SLC26A4):c.1520del (p.Leu506_Leu507insTer)	SLC26A4	Deletion (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 43516	NM_000441.2(SLC26A4):c.1614+1G>A	SLC26A4	Single nucleotide variant (splice donor variant)	not provided +3 more	GPathogenic
Select item 627475	NM_000441.2(SLC26A4):c.1692dup (p.Cys565fs)	SLC26A4 (C565fs)	Duplication (frameshift variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic
Select item 446457	NM_000441.2(SLC26A4):c.1707+5G>A	SLC26A4	Single nucleotide variant (intron variant)	Pendred syndrome +2 more	GPathogenic
Select item 627476	NM_000441.2(SLC26A4):c.1746del (p.Ala584fs)	SLC26A4 (A584fs)	Deletion (frameshift variant)	Pendred syndrome	GPathogenic
Select item 188889	NM_000441.2(SLC26A4):c.1975G>C (p.Val659Leu)	SLC26A4 (V659L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 43533	NM_000441.2(SLC26A4):c.2027T>A (p.Leu676Gln)	SLC26A4 (L676Q)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 189164	NM_000441.2(SLC26A4):c.2086C>T (p.Gln696Ter)	SLC26A4 (Q696*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
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 4825	NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg)	LOC123956210, SLC26A4 (H723R)	Single nucleotide variant (missense variant)	Rare genetic deafness +4 more	GPathogenic/Likely pathogenic

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Items: 29