Related gene-specific medical variations for Gene (Select 140890) - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3169943	NM_001077199.3(SREK1):c.49C>T (p.Pro17Ser)	LOC129993983, SREK1 (P17S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3169937	NM_001077199.3(SREK1):c.146G>A (p.Arg49Gln)	LOC129993983, SREK1 (R49Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1808443	GRCh37/hg19 5q12.3(chr5:65445482-65714525)x1	SREK1	Copy number loss	not provided	GUncertain significance

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