C1846647[trait identifier] AND "Hereditary Research Laboratory, Bethle - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1823	NM_013296.5(GPSM2):c.379C>T (p.Arg127Ter)	GPSM2 (R127*)	Single nucleotide variant (nonsense)	Chudley-McCullough syndrome	GPathogenic
Select item 402258	NM_013296.5(GPSM2):c.977G>A (p.Trp326Ter)	GPSM2 (W326*)	Single nucleotide variant (nonsense)	Chudley-McCullough syndrome	GPathogenic
Select item 43566	NM_000441.2(SLC26A4):c.716T>A (p.Val239Asp)	SLC26A4 (V239D)	Single nucleotide variant (missense variant)	not provided +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)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 43494	NM_000441.2(SLC26A4):c.1198del (p.Cys400fs)	SLC26A4 (C400fs)	Deletion	not provided +3 more	GPathogenic/Likely pathogenic
Select item 4103	NM_138691.3(TMC1):c.100C>T (p.Arg34Ter)	TMC1 (R34*)	Single nucleotide variant (nonsense)	Rare genetic deafness +3 more	GPathogenic
Select item 402285	NM_002473.6(MYH9):c.5137A>G (p.Ser1713Gly)	MYH9 (S1713G)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive	GPathogenic

ClinVar