ClinVar for MedGen (Select 934630) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024548	NM_176869.3(PPA2):c.528+5_528+8del	PPA2	Microsatellite (intron variant +1 more)	not provided +1 more	GUncertain significance
Select item 1048582	NM_176869.3(PPA2):c.250C>T (p.Arg84Ter)	PPA2 (R84*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GUncertain significance
Select item 1048581	NM_176869.3(PPA2):c.833T>C (p.Leu278Ser)	PPA2 (L112S +3 more)	Single nucleotide variant (missense variant)	Sudden cardiac failure, alcohol-induced +1 more	GUncertain significance
Select item 1048580	NM_176869.3(PPA2):c.686G>T (p.Gly229Val)	PPA2 (G127V +3 more)	Single nucleotide variant (missense variant)	Sudden cardiac failure, alcohol-induced +1 more	GUncertain significance
Select item 1048579	NM_176869.3(PPA2):c.655+5G>A	PPA2	Single nucleotide variant (intron variant)	Sudden cardiac failure, alcohol-induced +1 more	GUncertain significance
Select item 1048578	NM_176869.3(PPA2):c.606G>C (p.Trp202Cys)	PPA2 (W100C +2 more)	Single nucleotide variant (missense variant +1 more)	Sudden cardiac failure, infantile +1 more	GLikely pathogenic
Select item 1048577	NM_176869.3(PPA2):c.503T>C (p.Ile168Thr)	PPA2 (I168T)	Single nucleotide variant (missense variant +1 more)	PPA2-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1048576	NM_176869.3(PPA2):c.476C>T (p.Thr159Met)	PPA2 (T159M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1048575	NM_176869.3(PPA2):c.443C>G (p.Thr148Ser)	PPA2 (T148S)	Single nucleotide variant (missense variant +1 more)	Sudden cardiac failure, infantile +1 more	GUncertain significance
Select item 1048574	NM_176869.3(PPA2):c.389C>T (p.Ala130Val)	PPA2 (A130V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1048573	NM_176869.3(PPA2):c.346C>T (p.Pro116Ser)	PPA2 (P116S)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1048572	NM_176869.3(PPA2):c.340A>G (p.Met114Val)	PPA2 (M114V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 620292	NM_176869.3(PPA2):c.938C>A (p.Ser313Ter)	PPA2 (S313* +3 more)	Single nucleotide variant (nonsense)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 372226	NM_176869.3(PPA2):c.683C>T (p.Pro228Leu)	PPA2 (P228L +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 372225	NM_176869.3(PPA2):c.380G>T (p.Arg127Leu)	PPA2 (R127L)	Single nucleotide variant (missense variant +1 more)	Sudden cardiac failure, infantile +3 more	GConflicting classifications of pathogenicity
Select item 372222	NM_176869.3(PPA2):c.514G>A (p.Glu172Lys)	PPA2 (E172K)	Single nucleotide variant (missense variant +1 more)	Sudden cardiac failure, infantile +2 more	GPathogenic/Likely pathogenic