Related gene-specific medical variations for Gene (Select 11317) - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3152611	NM_014276.4(RBPJL):c.319C>G (p.Gln107Glu)	LOC130065956, RBPJL (Q107E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593288	NM_014276.4(RBPJL):c.100G>A (p.Asp34Asn)	MATN4, RBPJL (D34N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2546059	NM_014276.4(RBPJL):c.13G>A (p.Gly5Arg)	MATN4, RBPJL (G5R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2312028	NM_014276.4(RBPJL):c.116C>G (p.Pro39Arg)	MATN4, RBPJL (P39R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2308769	NM_014276.4(RBPJL):c.306G>T (p.Arg102Ser)	LOC130065956, RBPJL (R102S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 444120	NC_000020.11:g.45324436T>G	RBPJL	Single nucleotide variant	Type 2 diabetes mellitus	GBenign
Select item 444119	NC_000020.11:g.45279237T>C	RBPJL	Single nucleotide variant	Type 2 diabetes mellitus	GBenign
Select item 444117	NC_000020.11:g.45254192G>A	RBPJL, SLPI	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444115	NC_000020.11:g.45340368del	RBPJL, SDC4	Deletion (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444113	NC_000020.11:g.45335648T>C	RBPJL, SDC4	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444112	NC_000020.11:g.45324681_45324682del	RBPJL	Deletion	Type 2 diabetes mellitus	GBenign
Select item 444111	NC_000020.11:g.45330115G>A	RBPJL, SDC4	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444109	NC_000020.11:g.45336885A>G	SDC4, RBPJL	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444108	NC_000020.11:g.45157150A>G	RBPJL	Single nucleotide variant	Type 2 diabetes mellitus	GBenign
Select item 444107	NM_014276.4(RBPJL):c.23-481C>G	MATN4, RBPJL	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444106	NC_000020.11:g.45328870G>A	SDC4, RBPJL	Single nucleotide variant (intron variant)	Type 2 diabetes mellitus	GBenign
Select item 444105	NC_000020.11:g.45285365C>G	RBPJL	Single nucleotide variant	Type 2 diabetes mellitus	Grisk factor