ClinVar for MedGen (Select 1641363) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2499663	GRCh38/hg38 Xp22.31(chrX:7873079-8504515)	LOC106029241, LOC121627957 +12 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2499662	GRCh38/hg38 17q25.3(chr17:82004063-83087346)	ASPSCR1, B3GNTL1 +130 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 2499661	GRCh38/hg38 Xq28(chrX:153151471-153250484)	MAGEA1	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2499660	GRCh38/hg38 8p23.2(chr8:4079202-4329179)	CSMD1, LOC107522030 +1 more	Copy number loss	Anomalous pulmonary venous return	GUncertain significance
Select item 2499659	GRCh38/hg38 Xq21.1(chrX:80247518-80444881)	LOC125467766, TENT5D	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2499657	GRCh38/hg38 Xp11.21(chrX:55519984-55625002)	FOXR2	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2499656	GRCh38/hg38 22q11.1-11.21(chr22:16804110-18162024)	ADA2, ATP6V1E1 +105 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 2499655	GRCh38/hg38 20p11.21(chr20:25121080-25485829)	ABHD12, ENTPD6 +31 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2499654	GRCh38/hg38 17q21.31(chr17:43603558-44033313)	CD300LG, CFAP97D1 +29 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2499653	GRCh38/hg38 17q12(chr17:36138501-37924067)	AATF, ACACA +41 more	Copy number gain	Anomalous pulmonary venous return	GPathogenic
Select item 2499652	GRCh38/hg38 22q13.31(chr22:44184196-45239435)	ARHGAP8, KIAA0930 +39 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2499651	GRCh38/hg38 16p13.11(chr16:14816348-16678513)	ABCC1, ABCC6 +54 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2499650	GRCh38/hg38 15q13.2-13.3(chr15:30866083-32146743)	CHRNA7, FAN1 +21 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2499649	GRCh38/hg38 15q21.1(chr15:45092835-45433283)	AFG2B, C15orf48 +31 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2499648	GRCh38/hg38 12q21.1-21.2(chr12:75027258-75716971)	CAPS2, GLIPR1 +12 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2499646	GRCh38/hg38 9q22.33-31.1(chr9:99779833-99839574)	LOC101928438, LOC126860703 +3 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2499645	GRCh38/hg38 9q21.11(chr9:68417620-68744894)	LINC01506, LOC130001851 +10 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2499644	GRCh38/hg38 9p24.3(chr9:46587-273160)	DOCK8, DOCK8-AS1 +13 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2499643	GRCh38/hg38 7q31.2(chr7:116868268-117565389)	ASZ1, CAPZA2 +42 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2499642	GRCh38/hg38 16p13.3(chr16:3499966-3774794)	CLUAP1, CREBBP +18 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2499641	GRCh38/hg38 3q24(chr3:143944349-143982303)	DIPK2A, LOC129937722 +1 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2499640	GRCh38/hg38 2p22.3(chr2:32415095-33099301)	MIR4765, MIR558 +17 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 2499639	GRCh38/hg38 1p36.32(chr1:2518272-4413203)	ACTRT2, ARHGEF16 +88 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 545558	Single allele	SMAD2	Single nucleotide variant	Anomalous pulmonary venous return	GUncertain significance

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Items: 24