ClinVar for MedGen (Select 1794255) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064812	NM_001388308.1(KIF12):c.1723C>T (p.Arg575Ter)	KIF12 (R437* +1 more)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 8	GLikely pathogenic
Select item 3064811	NM_001388308.1(KIF12):c.375+1G>T	KIF12	Single nucleotide variant (splice donor variant)	Cholestasis, progressive familial intrahepatic, 8	GLikely pathogenic
Select item 2501777	NM_001388308.1(KIF12):c.704A>G (p.His235Arg)	KIF12 (H235R +1 more)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 8	GUncertain significance
Select item 1705359	NM_001388308.1(KIF12):c.430del (p.Ala144fs)	KIF12 (A144fs +1 more)	Deletion (frameshift variant)	Cholestasis, progressive familial intrahepatic, 8	GLikely pathogenic
Select item 1328489	NM_001388308.1(KIF12):c.1070G>A (p.Arg357Gln)	KIF12 (R357Q)	Single nucleotide variant (missense variant)	Cholestasis, progressive familial intrahepatic, 8	GUncertain significance
Select item 1328488	NM_001388308.1(KIF12):c.877C>T (p.Arg293Ter)	KIF12 (R293*)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 8	GPathogenic
Select item 1328487	NM_001388308.1(KIF12):c.1024G>A (p.Val342Met)	KIF12 (V342M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1328486	NM_001388308.1(KIF12):c.1069C>T (p.Arg357Ter)	KIF12 (R357*)	Single nucleotide variant (nonsense)	Cholestasis, progressive familial intrahepatic, 8	GPathogenic