ClinVar (all) for Orgtrack (Select 505313) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 222001	NM_170707.4(LMNA):c.1228C>T (p.Gln410Ter)	LMNA (Q410* +2 more)	Single nucleotide variant (nonsense)	Hypertrophic cardiomyopathy 1 +1 more	GPathogenic/Likely pathogenic
Select item 222000	NM_004444.5(EPHB4):c.980C>T (p.Pro327Leu)	EPHB4 (P327L)	Single nucleotide variant (missense variant)	Tetralogy of Fallot	GLikely pathogenic
Select item 221999	NM_017617.5(NOTCH1):c.578G>A (p.Gly193Asp)	NOTCH1 (G193D)	Single nucleotide variant (missense variant)	Tetralogy of Fallot	GPathogenic
Select item 221998	NM_017617.5(NOTCH1):c.2439C>G (p.Tyr813Ter)	NOTCH1 (Y813*)	Single nucleotide variant (nonsense)	Aortic valve disease 1	GPathogenic
Select item 221997	NM_017617.5(NOTCH1):c.3765C>A (p.Cys1255Ter)	NOTCH1 (C1255*)	Single nucleotide variant (nonsense)	Aortic valve disease 1	GPathogenic
Select item 162093	NM_018419.3(SOX18):c.481C>T (p.Gln161Ter)	SOX18 (Q161*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic

ClinVar