Related gene-specific medical variations for Gene (Select 23231) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3159470	NM_015187.5(SEL1L3):c.26G>T (p.Gly9Val)	LOC129992341, SEL1L3 (G9V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2569516	NM_015187.5(SEL1L3):c.10C>T (p.Arg4Cys)	LOC129992341, SEL1L3 (R4C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2534535	NM_015187.5(SEL1L3):c.62T>C (p.Leu21Pro)	LOC129992341, SEL1L3 (L21P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2516458	NM_015187.5(SEL1L3):c.38A>G (p.Gln13Arg)	LOC129992341, SEL1L3 (Q13R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2393454	NM_015187.5(SEL1L3):c.32C>A (p.Pro11Gln)	LOC129992341, SEL1L3 (P11Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 688214	GRCh37/hg19 4p15.2(chr4:25769970-25893825)x3	SEL1L3	Copy number gain	not provided	GUncertain significance
Select item 685606	GRCh37/hg19 4p15.2(chr4:25771972-25847419)x1	SEL1L3	Copy number loss	not provided	GUncertain significance

ClinVar