ClinVar for MedGen (Select 482407) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2574129	NM_001200.4(BMP2):c.982G>A (p.Glu328Lys)	BMP2 (E328K)	Single nucleotide variant (missense variant)	Ventricular septal defect 1	GPathogenic
Select item 2574128	NM_016358.3(IRX4):c.572C>T (p.Thr191Ile)	IRX4 (T191I +1 more)	Single nucleotide variant (missense variant)	Ventricular septal defect 1	GPathogenic
Select item 2574127	NM_016358.3(IRX4):c.71G>A (p.Ser24Asn)	IRX4 (S24N)	Single nucleotide variant (missense variant)	Ventricular septal defect 1	GPathogenic
Select item 2574126	NM_001077415.3(CRELD1):c.1049-401C>A	CRELD1 (H371N +1 more)	Single nucleotide variant (missense variant +2 more)	Ventricular septal defect 1	GPathogenic
Select item 2574124	NM_001077415.3(CRELD1):c.587G>T (p.Gly196Val)	CRELD1 (G196V)	Single nucleotide variant (missense variant +1 more)	Ventricular septal defect 1	GPathogenic
Select item 1702933	NM_001719.3(BMP7):c.254A>T (p.Asp85Val)	BMP7 (D85V)	Single nucleotide variant (missense variant)	Ventricular septal defect 1	GPathogenic
Select item 1372032	NM_001308093.3(GATA4):c.623T>C (p.Met208Thr)	GATA4 (M1T +2 more)	Single nucleotide variant (missense variant +1 more)	Atrial septal defect 2 +5 more	GUncertain significance
Select item 1338850	NM_001308093.3(GATA4):c.691C>T (p.Arg231Ter)	GATA4 (R230* +2 more)	Single nucleotide variant (nonsense)	Ventricular septal defect 1 +1 more	GPathogenic
Select item 1314160	NM_001308093.3(GATA4):c.1149G>A (p.Gln383=)	GATA4	Single nucleotide variant (synonymous variant)	Atrioventricular septal defect 4 +5 more	GUncertain significance
Select item 1197085	NM_001308093.3(GATA4):c.1240C>G (p.Pro414Ala)	GATA4 (P165A +3 more)	Single nucleotide variant (missense variant)	Atrial septal defect 2 +5 more	GUncertain significance
Select item 1029406	NM_001308093.3(GATA4):c.931A>T (p.Met311Leu)	GATA4 (M104L +3 more)	Single nucleotide variant (missense variant)	GATA4-related disorder +3 more	GUncertain significance
Select item 472784	NM_001308093.3(GATA4):c.942G>T (p.Glu314Asp)	GATA4 (E313D +3 more)	Single nucleotide variant (missense variant)	not provided +6 more	GUncertain significance
Select item 472776	NM_001308093.3(GATA4):c.263G>T (p.Gly88Val)	GATA4 (G88V)	Single nucleotide variant (missense variant +1 more)	Atrial septal defect 2 +5 more	GUncertain significance
Select item 429341	NM_001308093.3(GATA4):c.392C>G (p.Ala131Gly)	GATA4 (A131G)	Single nucleotide variant (missense variant +1 more)	Tetralogy of Fallot +5 more	GUncertain significance
Select item 424039	NM_001308093.3(GATA4):c.1315G>A (p.Asp439Asn)	GATA4 (D438N +3 more)	Single nucleotide variant (missense variant)	Atrial septal defect 2 +5 more	GUncertain significance
Select item 239099	NM_001308093.3(GATA4):c.1235C>T (p.Ala412Val)	GATA4 (A411V +3 more)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +7 more	GBenign/Likely benign
Select item 195137	NM_001200.4(BMP2):c.109T>G (p.Ser37Ala)	BMP2 (S37A)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 44336	NM_001308093.3(GATA4):c.825C>T (p.Cys275=)	GATA4	Single nucleotide variant (synonymous variant +1 more)	not specified +7 more	GConflicting classifications of pathogenicity
Select item 30107	NM_001308093.3(GATA4):c.127C>T (p.Arg43Trp)	GATA4 (R43W)	Single nucleotide variant (missense variant +1 more)	Cardiovascular phenotype	GUncertain significance
Select item 30106	NM_001308093.3(GATA4):c.889G>C (p.Gly297Arg)	GATA4 (G296R +2 more)	Single nucleotide variant (missense variant +1 more)	Ventricular septal defect 1	GPathogenic
Select item 30103	NM_001308093.3(GATA4):c.1223C>A (p.Pro408Gln)	GATA4 (P407Q +3 more)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 30102	NM_001308093.3(GATA4):c.1328C>T (p.Ala443Val)	GATA4 (A442V +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 30101	NM_001308093.3(GATA4):c.1078G>A (p.Glu360Lys)	GATA4 (E359K +3 more)	Single nucleotide variant (missense variant)	Male infertility with azoospermia or oligozoospermia due to single gene mutation +1 more	GConflicting classifications of pathogenicity
Select item 30099	NM_001308093.3(GATA4):c.487C>T (p.Pro163Ser)	GATA4 (P163S)	Single nucleotide variant (missense variant +1 more)	Atrioventricular septal defect 4 +4 more	GConflicting classifications of pathogenicity

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Items: 24