"PreventionGenetics, part of Exact Sciences"[submitter] AND "CHKB-CPT1 - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2633415	NM_152246.3(CPT1B):c.2071del (p.Gln691fs)	CHKB-CPT1B, CPT1B (Q657fs +1 more)	Deletion (frameshift variant +1 more)	CPT1B-related disorder	GUncertain significance
Select item 3050154	NM_152246.3(CPT1B):c.2028+10G>A	CHKB-CPT1B, CPT1B	Single nucleotide variant (intron variant)	CPT1B-related disorder	GLikely benign
Select item 2633852	NM_152246.3(CPT1B):c.1454G>A (p.Trp485Ter)	CHKB-CPT1B, CPT1B (W451* +1 more)	Single nucleotide variant (nonsense +1 more)	CPT1B-related disorder	GUncertain significance
Select item 3047704	NM_152246.3(CPT1B):c.560G>A (p.Arg187Gln)	CPT1B, CHKB-CPT1B (R187Q)	Single nucleotide variant (missense variant +2 more)	CPT1B-related disorder	GLikely benign
Select item 1493500	NM_005198.5(CHKB):c.910C>A (p.Pro304Thr)	CHKB, CHKB-CPT1B (P304T)	Single nucleotide variant (missense variant +1 more)	Megaconial type congenital muscular dystrophy +1 more	GUncertain significance
Select item 259661	NM_005198.5(CHKB):c.670A>C (p.Asn224His)	CHKB, CHKB-CPT1B (N224H)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 388216	NM_005198.5(CHKB):c.597C>T (p.Ile199=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	CHKB-related disorder +2 more	GLikely benign
Select item 259660	NM_005198.5(CHKB):c.582-13_582-11del	CHKB, CHKB-CPT1B	Deletion (intron variant)	Congenital Muscular Dystrophy, CHKB-related +2 more	GConflicting classifications of pathogenicity
Select item 514225	NM_005198.5(CHKB):c.516G>A (p.Ala172=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	CHKB-related disorder +2 more	GLikely benign
Select item 421602	NM_005198.5(CHKB):c.501T>G (p.Ile167Met)	CHKB, CHKB-CPT1B (I167M)	Single nucleotide variant (missense variant +1 more)	CHKB-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 259659	NM_005198.5(CHKB):c.457T>C (p.Leu153=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2634957	NM_005198.5(CHKB):c.447+4C>T	CHKB-CPT1B, CHKB	Single nucleotide variant (intron variant)	CHKB-related disorder	GUncertain significance
Select item 128729	NM_005198.5(CHKB):c.333+10G>T	CHKB, CHKB-CPT1B	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 342176	NM_005198.5(CHKB):c.249C>T (p.Phe83=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 128728	NM_005198.5(CHKB):c.216C>T (p.Tyr72=)	CHKB, CHKB-CPT1B	Single nucleotide variant (synonymous variant +1 more)	Megaconial type congenital muscular dystrophy +1 more	GBenign
Select item 342177	NM_005198.5(CHKB):c.149A>G (p.Tyr50Cys)	CHKB, CHKB-CPT1B (Y50C)	Single nucleotide variant (missense variant +1 more)	CHKB-related disorder +3 more	GBenign/Likely benign