Related gene-specific medical variations for Gene (Select 57410) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158823	NM_020680.4(SCYL1):c.50T>C (p.Ile17Thr)	LOC130006026, SCYL1 (I17T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3158820	NM_020680.4(SCYL1):c.29G>A (p.Arg10Gln)	LOC130006026, SCYL1 (R10Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3038750	NM_020680.4(SCYL1):c.51C>T (p.Ile17=)	LOC130006026, SCYL1	Single nucleotide variant (synonymous variant)	SCYL1-related disorder	GLikely benign
Select item 2245144	NM_020680.4(SCYL1):c.74T>C (p.Leu25Pro)	LOC130006026, SCYL1 (L25P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 974821	NM_020680.4(SCYL1):c.1386+1G>T	SCYL1	Single nucleotide variant (splice donor variant)	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	GPathogenic/Likely pathogenic
Select item 548462	NM_020680.4(SCYL1):c.1412C>T (p.Ala471Val)	SCYL1 (A471V)	Single nucleotide variant (missense variant)	Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome	GLikely pathogenic

ClinVar