C0265908[trait identifier] AND "Henan Key Laboratory of Chronic Diseas - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1696825	NM_004477.3(FRG1):c.322G>A (p.Ala108Thr)	FRG1 (A108T)	Single nucleotide variant (missense variant)	Pulmonary artery atresia	GPathogenic
Select item 1692757	NM_004168.4(SDHA):c.1337T>C (p.Val446Ala)	SDHA (V398A +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 548890	NM_004168.4(SDHA):c.1346C>T (p.Ala449Val)	SDHA (A449V +1 more)	Single nucleotide variant (missense variant)	Paragangliomas 5	GUncertain significance
Select item 1696858	NM_005124.4(NUP153):c.938A>T (p.Gln313Leu)	NUP153 (Q313L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1696856	NM_002124.4(HLA-DRB1):c.242A>T (p.Glu81Val)	HLA-DRB1 (E81V)	Single nucleotide variant (missense variant)	Pulmonary artery atresia	GPathogenic
Select item 1696857	NM_014739.3(BCLAF1):c.813G>T (p.Arg271Ser)	BCLAF1 (R269S +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary artery atresia	GPathogenic
Select item 1696847	NM_014739.3(BCLAF1):c.493C>A (p.Gln165Lys)	BCLAF1 (Q163K +1 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary artery atresia	GPathogenic
Select item 1696850	NM_002568.4(PABPC1):c.1685T>C (p.Leu562Ser)	PABPC1 (L562S)	Single nucleotide variant (missense variant)	Pulmonary artery atresia	GPathogenic
Select item 1696848	NM_022802.3(CTBP2):c.2287G>A (p.Val763Met)	CTBP2 (V223M +2 more)	Single nucleotide variant (missense variant)	Pulmonary artery atresia	GPathogenic
Select item 1696849	NM_022802.3(CTBP2):c.2165C>T (p.Thr722Met)	CTBP2 (T182M +2 more)	Single nucleotide variant (missense variant)	Pulmonary artery atresia	GPathogenic
Select item 1696855	NM_001329.4(CTBP2):c.349G>A (p.Gly117Ser)	CTBP2 (G117S +2 more)	Single nucleotide variant (missense variant)	Pulmonary artery atresia	GPathogenic
Select item 1339509	NM_001329.4(CTBP2):c.22A>T (p.Lys8Ter)	CTBP2 (K8*)	Single nucleotide variant (nonsense)	not specified	GBenign
Select item 1696854	NM_001030055.2(ARHGAP5):c.1421T>C (p.Val474Ala)	ARHGAP5 (V474A)	Single nucleotide variant (missense variant)	Pulmonary artery atresia	GPathogenic
Select item 1696853	NM_001256.6(CDC27):c.1777G>A (p.Ala593Thr)	CDC27 (A195T +5 more)	Single nucleotide variant (missense variant +1 more)	Pulmonary artery atresia	GPathogenic
Select item 1696852	NM_004368.4(CNN2):c.787G>A (p.Gly263Ser)	CNN2 (G224S +3 more)	Single nucleotide variant (missense variant)	Pulmonary artery atresia	GPathogenic
Select item 1696851	NM_004368.4(CNN2):c.797G>A (p.Arg266Gln)	CNN2 (R227Q +3 more)	Single nucleotide variant (missense variant)	Pulmonary artery atresia	GPathogenic