C1857586[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 30115	NM_004387.4(NKX2-5):c.848C>A (p.Pro283Gln)	NKX2-5 (P283Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +7 more	GUncertain significance
Select item 392351	NM_004387.4(NKX2-5):c.827C>G (p.Ala276Gly)	NKX2-5 (A276G)	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +7 more	GUncertain significance
Select item 2434372	NM_001136271.3(NKX2-6):c.620G>A (p.Arg207Gln)	NKX2-6 (R207Q)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 1513585	NM_001136271.3(NKX2-6):c.593T>C (p.Leu198Pro)	NKX2-6 (L198P)	Single nucleotide variant (missense variant)	Conotruncal heart malformations	GUncertain significance
Select item 2432235	NM_001136271.3(NKX2-6):c.568C>T (p.Gln190Ter)	NKX2-6 (Q190*)	Single nucleotide variant (nonsense)	Conotruncal heart malformations	GLikely pathogenic
Select item 1172828	NM_001136271.3(NKX2-6):c.455dup (p.Gln153fs)	NKX2-6 (Q153fs)	Duplication (frameshift variant)	Cerebral palsy +1 more	GLikely pathogenic; risk factor
Select item 534674	NM_001136271.3(NKX2-6):c.276G>A (p.Gln92=)	NKX2-6	Single nucleotide variant (synonymous variant)	Conotruncal heart malformations +1 more	GConflicting classifications of pathogenicity

ClinVar