"Ambry Genetics"[submitter] AND "CPT1B"[gene] - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3269287	NM_152246.3(CPT1B):c.2315G>C (p.Ser772Thr)	CHKB-CPT1B, CPT1B (S738T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076926	NM_152246.3(CPT1B):c.2314A>C (p.Ser772Arg)	CHKB-CPT1B, CPT1B (S738R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244632	NM_152246.3(CPT1B):c.2309C>T (p.Ala770Val)	CHKB-CPT1B, CPT1B (A736V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2265477	NM_152246.3(CPT1B):c.2288A>G (p.Asp763Gly)	CHKB-CPT1B, CPT1B (D763G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221077	NM_152246.3(CPT1B):c.2245C>T (p.Arg749Cys)	CHKB-CPT1B, CPT1B (R749C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523582	NM_152246.3(CPT1B):c.2234C>T (p.Thr745Met)	CHKB-CPT1B, CPT1B (T711M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409218	NM_152246.3(CPT1B):c.2084G>A (p.Arg695His)	CHKB-CPT1B, CPT1B (R661H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2473785	NM_152246.3(CPT1B):c.2064G>C (p.Gln688His)	CHKB-CPT1B, CPT1B (Q688H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269288	NM_152246.3(CPT1B):c.2009G>A (p.Ser670Asn)	CHKB-CPT1B, CPT1B (S670N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363522	NM_152246.3(CPT1B):c.2005G>C (p.Val669Leu)	CHKB-CPT1B, CPT1B (V669L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382741	NM_152246.3(CPT1B):c.1948G>A (p.Gly650Arg)	CHKB-CPT1B, CPT1B (G616R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076924	NM_152246.3(CPT1B):c.1942A>G (p.Met648Val)	CHKB-CPT1B, CPT1B (M614V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244369	NM_152246.3(CPT1B):c.1934G>A (p.Arg645His)	CHKB-CPT1B, CPT1B (R611H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076922	NM_152246.3(CPT1B):c.1868C>T (p.Ser623Phe)	CHKB-CPT1B, CPT1B (S623F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2214217	NM_152246.3(CPT1B):c.1861G>A (p.Glu621Lys)	CHKB-CPT1B, CPT1B (E621K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2598843	NM_152246.3(CPT1B):c.1817G>A (p.Arg606His)	CHKB-CPT1B, CPT1B (R572H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2262021	NM_152246.3(CPT1B):c.1793G>C (p.Arg598Pro)	CHKB-CPT1B, CPT1B (R564P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536943	NM_152246.3(CPT1B):c.1745G>A (p.Arg582Lys)	CHKB-CPT1B, CPT1B (R582K +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2289906	NM_152246.3(CPT1B):c.1683G>T (p.Lys561Asn)	CHKB-CPT1B, CPT1B (K527N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2263365	NM_152246.3(CPT1B):c.1672C>G (p.Leu558Val)	CHKB-CPT1B, CPT1B (L558V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2455890	NM_152246.3(CPT1B):c.1642T>G (p.Cys548Gly)	CHKB-CPT1B, CPT1B (C514G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333014	NM_152246.3(CPT1B):c.1606G>A (p.Val536Met)	CHKB-CPT1B, CPT1B (V536M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493001	NM_152246.3(CPT1B):c.1492T>C (p.Tyr498His)	CHKB-CPT1B, CPT1B (Y464H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076921	NM_152246.3(CPT1B):c.1375C>G (p.Leu459Val)	CHKB-CPT1B, CPT1B (L425V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541081	NM_152246.3(CPT1B):c.1369T>C (p.Phe457Leu)	CHKB-CPT1B, CPT1B (F423L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076920	NM_152246.3(CPT1B):c.1342T>C (p.Cys448Arg)	CHKB-CPT1B, CPT1B (C448R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076919	NM_152246.3(CPT1B):c.1334A>G (p.His445Arg)	CHKB-CPT1B, CPT1B (H445R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2408726	NM_152246.3(CPT1B):c.1291G>A (p.Glu431Lys)	CHKB-CPT1B, CPT1B (E431K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343342	NM_152246.3(CPT1B):c.1241G>A (p.Arg414His)	CHKB-CPT1B, CPT1B (R380H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2518115	NM_152246.3(CPT1B):c.1237G>A (p.Glu413Lys)	CHKB-CPT1B, CPT1B (E379K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2366025	NM_152246.3(CPT1B):c.1187G>A (p.Arg396His)	CHKB-CPT1B, CPT1B (R362H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2277948	NM_152246.3(CPT1B):c.1151T>C (p.Leu384Pro)	CHKB-CPT1B, CPT1B (L384P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2551689	NM_152246.3(CPT1B):c.1135G>A (p.Glu379Lys)	CHKB-CPT1B, CPT1B (E345K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2536049	NM_152246.3(CPT1B):c.1030T>C (p.Phe344Leu)	CHKB-CPT1B, CPT1B (F344L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2230270	NM_152246.3(CPT1B):c.997C>T (p.Arg333Trp)	CHKB-CPT1B, CPT1B (R299W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269286	NM_152246.3(CPT1B):c.963G>T (p.Lys321Asn)	CHKB-CPT1B, CPT1B (K287N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2476907	NM_152246.3(CPT1B):c.929A>G (p.Glu310Gly)	CHKB-CPT1B, CPT1B (E310G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2251668	NM_152246.3(CPT1B):c.851A>G (p.Tyr284Cys)	CHKB-CPT1B, CPT1B (Y250C +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076933	NM_152246.3(CPT1B):c.845T>A (p.Ile282Asn)	CHKB-CPT1B, CPT1B (I248N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406972	NM_152246.3(CPT1B):c.838G>A (p.Ala280Thr)	CHKB-CPT1B, CPT1B (A246T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216892	NM_152246.3(CPT1B):c.833T>C (p.Ile278Thr)	CHKB-CPT1B, CPT1B (I244T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076932	NM_152246.3(CPT1B):c.818G>A (p.Arg273His)	CHKB-CPT1B, CPT1B (R239H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2333402	NM_152246.3(CPT1B):c.805G>A (p.Val269Met)	CHKB-CPT1B, CPT1B (V235M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2517377	NM_152246.3(CPT1B):c.794A>G (p.Lys265Arg)	CHKB-CPT1B, CPT1B (K265R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 623415	NM_152246.3(CPT1B):c.754G>A (p.Val252Met)	CHKB-CPT1B, CPT1B (V252M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076931	NM_152246.3(CPT1B):c.734G>A (p.Arg245Gln)	CHKB-CPT1B, CPT1B (R211Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2543658	NM_152246.3(CPT1B):c.727T>C (p.Tyr243His)	CHKB-CPT1B, CPT1B (Y209H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076930	NM_152246.3(CPT1B):c.578G>A (p.Arg193His)	CHKB-CPT1B, CPT1B +1 more (R193H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076929	NM_152246.3(CPT1B):c.535C>T (p.Pro179Ser)	CHKB-CPT1B, CPT1B (P179S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2598822	NM_152246.3(CPT1B):c.484C>T (p.Arg162Trp)	CHKB-CPT1B, CPT1B (R162W)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2539628	NM_152246.3(CPT1B):c.451A>C (p.Ile151Leu)	CHKB-CPT1B, CPT1B (I151L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3269290	NM_152246.3(CPT1B):c.434C>T (p.Thr145Ile)	CHKB-CPT1B, CPT1B (T145I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509405	NM_152246.3(CPT1B):c.404A>G (p.His135Arg)	CHKB-CPT1B, CPT1B (H135R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076927	NM_152246.3(CPT1B):c.380C>T (p.Thr127Ile)	CHKB-CPT1B, CPT1B (T127I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2612273	NM_152246.3(CPT1B):c.374G>C (p.Arg125Pro)	CHKB-CPT1B, CPT1B (R125P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2224477	NM_152246.3(CPT1B):c.356C>T (p.Thr119Met)	CHKB-CPT1B, CPT1B (T119M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2210802	NM_152246.3(CPT1B):c.310C>T (p.Arg104Trp)	CHKB-CPT1B, CPT1B (R104W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2324642	NM_152246.3(CPT1B):c.298A>G (p.Thr100Ala)	CHKB-CPT1B, CPT1B (T100A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380446	NM_152246.3(CPT1B):c.239C>T (p.Ser80Phe)	CHKB-CPT1B, CPT1B (S80F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076925	NM_152246.3(CPT1B):c.229G>T (p.Val77Leu)	CHKB-CPT1B, CPT1B (V77L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2331379	NM_152246.3(CPT1B):c.113C>T (p.Ser38Phe)	CHKB-CPT1B, CPT1B (S38F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076918	NM_152246.3(CPT1B):c.104G>C (p.Gly35Ala)	CHKB-CPT1B, CPT1B (G35A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3076923	NM_152246.3(CPT1B):c.18G>C (p.Gln6His)	CHKB-CPT1B, CPT1B (Q6H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2321429	NM_152246.3(CPT1B):c.5C>T (p.Ala2Val)	CHKB-CPT1B, CPT1B (A2V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Items: 64