Related gene-specific medical variations for Gene (Select 163859) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3158901	NM_152608.4(SDE2):c.67G>T (p.Ala23Ser)	LOC129932627, SDE2 (A23S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158898	NM_152608.4(SDE2):c.32G>C (p.Arg11Pro)	LOC129932627, SDE2 (R11P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3158897	NM_152608.4(SDE2):c.19C>G (p.Leu7Val)	LOC129932627, SDE2 (L7V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508619	NM_152608.4(SDE2):c.101A>C (p.His34Pro)	LOC129932627, SDE2 (H34P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347960	NM_152608.4(SDE2):c.110G>T (p.Cys37Phe)	LOC129932627, SDE2 (C37F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 814172	GRCh37/hg19 1q42.12(chr1:226154689-226211609)x1	SDE2	Copy number loss	not provided	GUncertain significance

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