"Ambry Genetics"[submitter] AND "CHKB"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2613948	NM_005198.5(CHKB):c.1147C>G (p.Gln383Glu)	CHKB, CHKB-CPT1B (Q383E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3144374	NM_005198.5(CHKB):c.1133T>A (p.Phe378Tyr)	CHKB, CHKB-CPT1B (F378Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 342167	NM_005198.5(CHKB):c.980C>T (p.Ser327Phe)	CHKB, CHKB-CPT1B (S327F)	Single nucleotide variant (missense variant +1 more)	Megaconial type congenital muscular dystrophy +2 more	GUncertain significance
Select item 850226	NM_005198.5(CHKB):c.961A>G (p.Lys321Glu)	CHKB, CHKB-CPT1B (K321E)	Single nucleotide variant (missense variant +1 more)	Megaconial type congenital muscular dystrophy +1 more	GUncertain significance
Select item 342168	NM_005198.5(CHKB):c.944A>G (p.His315Arg)	CHKB, CHKB-CPT1B (H315R)	Single nucleotide variant (missense variant +1 more)	Megaconial type congenital muscular dystrophy +2 more	GUncertain significance
Select item 2244332	NM_005198.5(CHKB):c.783G>C (p.Met261Ile)	CHKB, CHKB-CPT1B (M261I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2166544	NM_005198.5(CHKB):c.649A>G (p.Ser217Gly)	CHKB, CHKB-CPT1B (S217G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2340163	NM_005198.5(CHKB):c.484G>A (p.Val162Met)	CHKB, CHKB-CPT1B (V162M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1494559	NM_005198.5(CHKB):c.451C>T (p.Arg151Trp)	CHKB, CHKB-CPT1B (R151W)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2045639	NM_005198.5(CHKB):c.291G>T (p.Glu97Asp)	CHKB, CHKB-CPT1B (E97D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 342175	NM_005198.5(CHKB):c.275C>T (p.Pro92Leu)	CHKB, CHKB-CPT1B (P92L)	Single nucleotide variant (missense variant +1 more)	Megaconial type congenital muscular dystrophy +2 more	GUncertain significance
Select item 2605831	NM_005198.5(CHKB):c.274C>T (p.Pro92Ser)	CHKB, CHKB-CPT1B (P92S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2496024	NM_005198.5(CHKB):c.272T>A (p.Leu91Gln)	CHKB, CHKB-CPT1B (L91Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229220	NM_005198.5(CHKB):c.260T>C (p.Leu87Pro)	CHKB, CHKB-CPT1B (L87P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 646146	NM_005198.5(CHKB):c.214T>C (p.Tyr72His)	CHKB, CHKB-CPT1B (Y72H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3144376	NM_005198.5(CHKB):c.209G>C (p.Arg70Thr)	CHKB, CHKB-CPT1B (R70T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1496086	NM_005198.5(CHKB):c.196C>A (p.Pro66Thr)	CHKB, CHKB-CPT1B (P66T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1010455	NM_005198.5(CHKB):c.184C>T (p.Arg62Cys)	CHKB, CHKB-CPT1B (R62C)	Single nucleotide variant (missense variant +1 more)	Megaconial type congenital muscular dystrophy +1 more	GUncertain significance
Select item 638334	NM_005198.5(CHKB):c.138G>T (p.Glu46Asp)	CHKB, CHKB-CPT1B (E46D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2331207	NM_005198.5(CHKB):c.137A>C (p.Glu46Ala)	CHKB, CHKB-CPT1B (E46A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2331205	NM_005198.5(CHKB):c.131A>C (p.Asp44Ala)	CHKB, CHKB-CPT1B (D44A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2525701	NM_005198.5(CHKB):c.116C>T (p.Ser39Leu)	CHKB, CHKB-CPT1B (S39L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance

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Items: 22