Related gene-specific medical variations for Gene (Select 64283) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2511392	NM_001177693.2(ARHGEF28):c.133A>G (p.Met45Val)	ARHGEF28, LOC123497908 (M45V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2497724	NM_001177693.2(ARHGEF28):c.1220G>A (p.Cys407Tyr)	ARHGEF28 (C309Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1809274	GRCh37/hg19 5q13.2-13.3(chr5:72936651-73356934)x3	ARHGEF28	Copy number gain	not provided	GUncertain significance
Select item 1808917	GRCh37/hg19 5q13.2-13.3(chr5:73126777-73830701)x3	ARHGEF28	Copy number gain	not provided	GUncertain significance
Select item 1527168	GRCh37/hg19 5q13.2(chr5:73089466-73143313)	ARHGEF28	Copy number loss	not specified	GUncertain significance
Select item 809768	NM_001177693.2(ARHGEF28):c.3308A>G (p.Lys1103Arg)	ARHGEF28 (K790R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 563077	GRCh37/hg19 5q13.2(chr5:73089466-73143313)x1	ARHGEF28	Copy number loss	not provided	GUncertain significance

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