C3538946[trait identifier] AND "Greenwood Genetic Center Diagnostic La - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 43553	NM_000441.2(SLC26A4):c.2T>C (p.Met1Thr)	SLC26A4, SLC26A4-AS1 (M1T)	Single nucleotide variant (non-coding transcript variant +2 more)	Autosomal recessive nonsyndromic hearing loss 4 +4 more	GPathogenic
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 4821	NM_000441.2(SLC26A4):c.626G>T (p.Gly209Val)	SLC26A4 (G209V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +4 more	GPathogenic/Likely pathogenic
Select item 43566	NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	SLC26A4 (V239D)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GConflicting classifications of pathogenicity
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 43497	NM_000441.2(SLC26A4):c.1226G>C (p.Arg409Pro)	SLC26A4 (R409P)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 43532	NM_000441.2(SLC26A4):c.2015G>A (p.Gly672Glu)	SLC26A4 (G672E)	Single nucleotide variant (missense variant)	SLC26A4-related disorder +4 more	GConflicting classifications of pathogenicity

ClinVar