Related gene-specific medical variations for Gene (Select 357) - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3062553	GRCh37/hg19 Xp22.2(chrX:9828366-9951184)	SHROOM2	Copy number gain	not specified	GUncertain significance
Select item 3056854	NM_001649.4(SHROOM2):c.4311+10T>A	LOC126863206, SHROOM2	Single nucleotide variant (intron variant)	SHROOM2-related disorder	GBenign
Select item 2689974	NM_001649.4(SHROOM2):c.4718C>T (p.Ala1573Val)	SHROOM2 (A1573V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 685023	GRCh37/hg19 Xp22.2(chrX:9881680-9924989)x2	SHROOM2	Copy number gain	not provided	GUncertain significance
Select item 547110	GRCh37/hg19 Xp22.2(chrX:9771972-9972645)x2	SHROOM2	Copy number gain	not provided	GLikely benign

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