C0039685[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 523432	NM_016358.3(IRX4):c.1172C>T (p.Pro391Leu)	IRX4 (P417L +1 more)	Single nucleotide variant (missense variant)	Tetralogy of Fallot	GUncertain significance
Select item 523556	NM_133433.4(NIPBL):c.7459del (p.Glu2487fs)	NIPBL (E2487fs)	Deletion (frameshift variant)	Tetralogy of Fallot +2 more	GPathogenic
Select item 9034	NM_001308093.3(GATA4):c.1276G>A (p.Asp426Asn)	GATA4 (D425N +3 more)	Single nucleotide variant (missense variant)	GATA4-related disorder +8 more	GConflicting classifications of pathogenicity
Select item 931052	NM_012082.4(ZFPM2):c.2238A>G (p.Leu746=)	LOC126860469, ZFPM2 +1 more	Single nucleotide variant (synonymous variant)	Tetralogy of Fallot	GUncertain significance
Select item 931432	NM_012082.4(ZFPM2):c.3269dup (p.Ser1091fs)	LOC126860469, ZFPM2 +1 more (S1091fs +2 more)	Duplication (frameshift variant)	Tetralogy of Fallot	GUncertain significance
Select item 13919	NM_020975.6(RET):c.2753T>C (p.Met918Thr)	RET (M918T +17 more)	Single nucleotide variant (missense variant)	Multiple endocrine neoplasia type 2B +17 more	GPathogenic/Likely pathogenic
Select item 931055	NM_000214.3(JAG1):c.3256G>A (p.Val1086Met)	JAG1 (V1086M)	Single nucleotide variant (missense variant)	Tetralogy of Fallot	GUncertain significance
Select item 177941	NM_000214.3(JAG1):c.2122_2125del (p.Gln708fs)	JAG1 (Q708fs)	Microsatellite (frameshift variant)	Heart, malformation of +5 more	GPathogenic
Select item 931651	NM_000214.3(JAG1):c.1613C>T (p.Ala538Val)	JAG1 (A538V)	Single nucleotide variant (missense variant)	Tetralogy of Fallot	GUncertain significance
Select item 931652	NM_000214.3(JAG1):c.289G>C (p.Gly97Arg)	JAG1 (G97R)	Single nucleotide variant (missense variant)	Tetralogy of Fallot	GUncertain significance
Select item 930690	NM_000214.3(JAG1):c.228del (p.Val77fs)	JAG1 (V77fs)	Deletion (frameshift variant)	Tetralogy of Fallot	GPathogenic