Related gene-specific medical variations for Gene (Select 6594) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690042	NM_001282874.2(SMARCA1):c.279G>C (p.Lys93Asn)	SMARCA1 (K93N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441856	NM_001282874.2(SMARCA1):c.3068T>C (p.Ile1023Thr)	SMARCA1 (I1011T +1 more)	Single nucleotide variant (missense variant)	X-linked intellectual disability	GUncertain significance
Select item 1809370	GRCh37/hg19 Xq25(chrX:128374291-128622922)x2	SMARCA1	Copy number gain	not provided	GUncertain significance
Select item 1184430	NM_001282874.2(SMARCA1):c.2217G>A (p.Lys739=)	SMARCA1	Single nucleotide variant (synonymous variant)	See cases	GUncertain significance
Select item 816391	GRCh37/hg19 Xq25(chrX:128221372-128591582)x2	SMARCA1	Copy number gain	not provided	GUncertain significance
Select item 816390	GRCh37/hg19 Xq25(chrX:128210719-128669654)x2	SMARCA1	Copy number gain	not provided	GUncertain significance
Select item 685050	GRCh37/hg19 Xq25(chrX:128381237-128612764)x0	SMARCA1	Copy number loss	not provided	GUncertain significance
Select item 564900	GRCh37/hg19 Xq25(chrX:128374241-128611994)x3	SMARCA1	Copy number gain	not provided	GUncertain significance

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