Related gene-specific medical variations for Gene (Select 6721) - ClinVar - NCBI

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Items: 3

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340085	NM_004599.4(SREBF2):c.3353_3359del (p.Asp1118fs)	SREBF2 (D1118fs)	Deletion (frameshift variant +1 more)	Hypercholesterolemia	GUncertain significance
Select item 3169930	NM_004599.4(SREBF2):c.58G>C (p.Gly20Arg)	SREBF2, SREBF2-AS1 (G20R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2319989	NM_004599.4(SREBF2):c.13G>C (p.Gly5Arg)	SREBF2, SREBF2-AS1 (G5R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance

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