ClinVar (all) for Orgtrack (Select 506407) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 599396	NM_021930.6(RINT1):c.1109T>C (p.Leu370Pro)	RINT1 (L370P +3 more)	Single nucleotide variant (missense variant +1 more)	Infantile liver failure syndrome 3 +1 more	GPathogenic
Select item 547947	NM_021930.6(RINT1):c.1333+1G>A	RINT1	Single nucleotide variant (splice donor variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 446294	NM_020680.4(SCYL1):c.314C>T (p.Ala105Val)	SCYL1 (A105V)	Single nucleotide variant (missense variant)	CALFAN syndrome +1 more	GPathogenic
Select item 446293	NM_020680.4(SCYL1):c.169C>T (p.Gln57Ter)	SCYL1 (Q57*)	Single nucleotide variant (nonsense)	CALFAN syndrome +1 more	GPathogenic
Select item 446292	NM_020680.4(SCYL1):c.256G>T (p.Glu86Ter)	SCYL1 (E86*)	Single nucleotide variant (nonsense)	CALFAN syndrome	GPathogenic
Select item 446291	NM_020680.4(SCYL1):c.1433A>G (p.Asp478Gly)	SCYL1 (D478G)	Single nucleotide variant (missense variant)	CALFAN syndrome +1 more	GPathogenic
Select item 446290	NM_020680.4(SCYL1):c.1882C>T (p.Gln628Ter)	SCYL1 (Q628* +1 more)	Single nucleotide variant (nonsense)	CALFAN syndrome +1 more	GPathogenic

ClinVar