"Clinical Genetics, Academic Medical Center"[submitter] AND "NKX2-5"[g - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 138525	NM_004387.4(NKX2-5):c.861C>T (p.Ala287=)	NKX2-5	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 159256	NM_004387.4(NKX2-5):c.606G>C (p.Leu202=)	NKX2-5	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +2 more	GBenign
Select item 259380	NM_004387.4(NKX2-5):c.594G>A (p.Gln198=)	NKX2-5	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +3 more	GBenign
Select item 36658	NM_004387.4(NKX2-5):c.543G>A (p.Gln181=)	NKX2-5	Single nucleotide variant (3 prime UTR variant +1 more)	Atrial septal defect 7 +4 more	GBenign/Likely benign
Select item 9018	NM_004387.4(NKX2-5):c.355G>T (p.Ala119Ser)	NKX2-5 (A119S)	Single nucleotide variant (3 prime UTR variant +1 more)	Cardiovascular phenotype +4 more	GBenign/Likely benign
Select item 1284492	NM_004387.4(NKX2-5):c.335-297del	NKX2-5	Deletion (intron variant)	not specified	GBenign
Select item 1202302	NM_004387.4(NKX2-5):c.335-311_335-303del	NKX2-5	Deletion (intron variant)	not provided	GLikely benign
Select item 138523	NM_004387.4(NKX2-5):c.335-311A>T	NKX2-5	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 44837	NM_004387.4(NKX2-5):c.63A>G (p.Glu21=)	NKX2-5	Single nucleotide variant (synonymous variant)	Atrial septal defect 7 +2 more	GBenign

ClinVar