ClinVar (all) for Orgtrack (Select 505856) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1192296	NM_144672.4(OTOA):c.346C>T (p.Gln116Ter)	OTOA (Q116* +1 more)	Single nucleotide variant (nonsense)	Hearing loss, autosomal recessive	GPathogenic
Select item 1192284	NM_001080516.2(GRXCR2):c.323C>T (p.Ala108Val)	GRXCR2 (A108V)	Single nucleotide variant (missense variant)	Hearing loss, autosomal recessive	GPathogenic
Select item 252451	NM_198239.2(CCN6):c.589+1G>A	CCN6	Single nucleotide variant (splice donor variant)	Progressive pseudorheumatoid dysplasia	GPathogenic
Select item 198725	NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)	TPP1 (R339Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 188280	NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter)	NF1 (R681*)	Single nucleotide variant (nonsense)	not specified +8 more	GPathogenic
Select item 4556	NM_001386393.1(PANK2):c.1253C>T (p.Thr418Met)	MIR103A2, MIR103B2 +1 more (T237M +2 more)	Single nucleotide variant (missense variant +1 more)	Pigmentary pallidal degeneration +3 more	GPathogenic

ClinVar