Related gene-specific medical variations for Gene (Select 394) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 685226	GRCh37/hg19 14q12(chr14:32464298-32767649)x1	ARHGAP5	Copy number loss	not provided	GUncertain significance
Select item 151231	GRCh38/hg38 14q12(chr14:32118959-32146527)x1	ARHGAP5	Copy number loss	See cases	GLikely benign

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