"Hereditary Research Laboratory, Bethlehem University"[submitter] AND - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 43566	NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	SLC26A4 (V239D)	Single nucleotide variant (missense variant)	Pendred syndrome +3 more	GConflicting classifications of pathogenicity
Select item 189039	NM_000441.2(SLC26A4):c.1001G>T (p.Gly334Val)	SLC26A4 (G334V)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic
Select item 402275	NM_000441.2(SLC26A4):c.1149+1del	SLC26A4	Deletion (splice donor variant)	Pendred syndrome	GPathogenic
Select item 43494	NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)	SLC26A4 (C400fs)	Deletion	Autosomal recessive nonsyndromic hearing loss 4 +3 more	GPathogenic/Likely pathogenic
Select item 43505	NM_000441.2(SLC26A4):c.1341+1del	SLC26A4	Deletion (splice donor variant)	not provided +2 more	GPathogenic
Select item 402277	NM_000441.2(SLC26A4):c.2048T>C (p.Phe683Ser)	SLC26A4 (F683S)	Single nucleotide variant (missense variant)	Autosomal recessive nonsyndromic hearing loss 4 +2 more	GPathogenic/Likely pathogenic

ClinVar