ClinVar for MedGen (Select 462022) - ClinVar

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Items: 21

	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 2572863	NM_001193315.2(VIPAS39):c.808C>T (p.Arg270Ter)	VIPAS39 (R190* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided +2 more	GPathogenic
Select item 2177721	NM_001193315.2(VIPAS39):c.907A>G (p.Ile303Val)	VIPAS39 (I292V +5 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1805282	NM_001193315.2(VIPAS39):c.-1+408G>C	VIPAS39	Single nucleotide variant (intron variant)	Arthrogryposis, renal dysfunction, and cholestasis 2	GLikely benign
Select item 1701818	NM_001193315.2(VIPAS39):c.1141C>T (p.Arg381Ter)	VIPAS39 (R381* +6 more)	Single nucleotide variant (nonsense +2 more)	Arthrogryposis, renal dysfunction, and cholestasis 2	GPathogenic
Select item 1701817	NM_001193315.2(VIPAS39):c.177_179delinsAAA (p.Trp59_Ser60delinsTer)	VIPAS39	Indel (nonsense +1 more)	Arthrogryposis, renal dysfunction, and cholestasis 2	GPathogenic
Select item 1301768	NM_001193315.2(VIPAS39):c.632-14T>C	VIPAS39	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1028747	NM_001193315.2(VIPAS39):c.1366G>A (p.Asp456Asn)	VIPAS39 (D456N +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis, renal dysfunction, and cholestasis 2	GUncertain significance
Select item 1028746	NM_001193315.2(VIPAS39):c.1003A>G (p.Thr335Ala)	VIPAS39 (T286A +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 627536	NM_001193315.2(VIPAS39):c.618_626dup (p.Arg206_Leu208dup)	VIPAS39	Duplication (inframe_insertion)	Arthrogryposis, renal dysfunction, and cholestasis 2	GLikely pathogenic
Select item 522399	NM_001193315.2(VIPAS39):c.1184G>A (p.Trp395Ter)	VIPAS39 (W395* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis, renal dysfunction, and cholestasis 2	GPathogenic
Select item 522398	NM_001193315.2(VIPAS39):c.677A>G (p.His226Arg)	VIPAS39 (H226R +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis, renal dysfunction, and cholestasis 2	GLikely pathogenic
Select item 498683	NM_001193315.2(VIPAS39):c.1455C>A (p.Ser485Arg)	VIPAS39 (S485R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 285001	NM_001193315.2(VIPAS39):c.494G>A (p.Arg165Gln)	VIPAS39 (R165Q +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis, renal dysfunction, and cholestasis 2 +1 more	GUncertain significance
Select item 115	NM_001193315.2(VIPAS39):c.2T>G (p.Met1Arg)	VIPAS39 (M1R)	Single nucleotide variant (missense variant +1 more)	Arthrogryposis, renal dysfunction, and cholestasis 2	GPathogenic
Select item 114	NM_001193315.2(VIPAS39):c.871C>T (p.Gln291Ter)	VIPAS39 (Q291* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis, renal dysfunction, and cholestasis 2	GPathogenic
Select item 113	NM_001193315.2(VIPAS39):c.658C>T (p.Arg220Ter)	VIPAS39 (R220* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis, renal dysfunction, and cholestasis 2	GPathogenic
Select item 112	NM_001193315.2(VIPAS39):c.749_753del (p.Thr250fs)	VIPAS39 (T201fs +1 more)	Deletion (frameshift variant)	Arthrogryposis, renal dysfunction, and cholestasis 2	GPathogenic
Select item 111	NM_001193315.2(VIPAS39):c.535C>T (p.Gln179Ter)	VIPAS39 (Q179* +1 more)	Single nucleotide variant (nonsense)	Arthrogryposis, renal dysfunction, and cholestasis 2	GPathogenic

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Items: 21