Inga laurina - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 9011	NM_004387.4(NKX2-5):c.656C>T (p.Ala219Val)	NKX2-5 (A219V)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +6 more	GUncertain significance
Select item 9020	NM_004387.4(NKX2-5):c.547A>G (p.Lys183Glu)	NKX2-5 (K183E)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrioventricular septal defect, somatic	GPathogenic
Select item 9004	NM_004387.4(NKX2-5):c.533C>T (p.Thr178Met)	NKX2-5 (T178M)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7	GPathogenic
Select item 419454	NM_000546.6(TP53):c.836G>A (p.Gly279Glu)	TP53 (G147E +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome 1 +4 more	GConflicting classifications of pathogenicity
Select item 421804	NM_000546.6(TP53):c.829T>C (p.Cys277Arg)	TP53 (C145R +3 more)	Single nucleotide variant (missense variant)	Li-Fraumeni syndrome +3 more	GConflicting classifications of pathogenicity
Select item 376677	NM_000546.6(TP53):c.821T>C (p.Val274Ala)	TP53 (V142A +3 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 528236	NM_000546.6(TP53):c.293C>T (p.Pro98Leu)	TP53 (P98L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

ClinVar