BMAL2[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1693605	NM_020183.6(BMAL2):c.31+11413G>A	BMAL2	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gprotective
Select item 1693590	NM_020183.6(BMAL2):c.31+13565T>C	BMAL2	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 2548234	NM_020183.6(BMAL2):c.47A>T (p.Glu16Val)	BMAL2 (E16V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261157	NM_020183.6(BMAL2):c.50A>G (p.Glu17Gly)	BMAL2 (E17G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134468	NM_020183.6(BMAL2):c.142T>A (p.Phe48Ile)	BMAL2 (F48I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134469	NM_020183.6(BMAL2):c.149G>A (p.Arg50Gln)	BMAL2 (R50Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549041	NM_020183.6(BMAL2):c.160G>A (p.Gly54Arg)	BMAL2 (G65R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1693591	NM_020183.6(BMAL2):c.285-60A>C	BMAL2	Single nucleotide variant (intron variant)	Pulmonary disease, chronic obstructive, susceptibility to	Gassociation
Select item 2521509	NM_020183.6(BMAL2):c.352C>T (p.Arg118Trp)	BMAL2 (R118W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134478	NM_020183.6(BMAL2):c.353G>A (p.Arg118Gln)	BMAL2 (R81Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261155	NM_020183.6(BMAL2):c.397A>G (p.Met133Val)	BMAL2 (M133V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3261153	NM_020183.6(BMAL2):c.422C>T (p.Ala141Val)	BMAL2 (A104V +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134480	NM_020183.6(BMAL2):c.439C>T (p.Leu147Phe)	BMAL2 (L147F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134479	NM_020183.6(BMAL2):c.439C>A (p.Leu147Ile)	BMAL2 (L133I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134481	NM_020183.6(BMAL2):c.493A>G (p.Asn165Asp)	BMAL2 (N117D +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3134482	NM_020183.6(BMAL2):c.575G>T (p.Gly192Val)	BMAL2 (G189V +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance