Related gene-specific medical variations for Gene (Select 63894) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064954	NM_001193315.2(VIPAS39):c.1180-1G>C	VIPAS39	Single nucleotide variant (splice acceptor variant +1 more)	Arthrogryposis, renal dysfunction, and cholestasis 2	GUncertain significance
Select item 2690775	NM_001193315.2(VIPAS39):c.463_464del (p.Trp155fs)	VIPAS39 (W106fs +1 more)	Deletion (frameshift variant +1 more)	Arthrogryposis, renal dysfunction, and cholestasis 2	GLikely pathogenic
Select item 2582752	NM_001193315.2(VIPAS39):c.1048-1G>T	VIPAS39	Single nucleotide variant (splice acceptor variant)	Arthrogryposis, renal dysfunction, and cholestasis 2	GLikely pathogenic
Select item 261493	NM_001193315.2(VIPAS39):c.837-43T>C	VIPAS39	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 261490	NM_001193315.2(VIPAS39):c.598-25C>T	VIPAS39	Single nucleotide variant (intron variant)	not specified	GLikely benign

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