"Counsyl"[submitter] AND "CPT2"[gene] - ClinVar

Search results

Items: 72

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 189042	NM_000098.3(CPT2):c.38del (p.Gly13fs)	CPT2, LOC129930561 (G13fs)	Deletion (frameshift variant)	Carnitine palmitoyltransferase II deficiency +1 more	GPathogenic/Likely pathogenic
Select item 556806	NM_000098.3(CPT2):c.37_39del (p.Gly13del)	CPT2, LOC129930561 (G13del)	Deletion (inframe_deletion)	Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more	GUncertain significance
Select item 371757	NM_000098.3(CPT2):c.54_72dup (p.Leu25fs)	CPT2, LOC129930561 (L25fs)	Duplication (frameshift variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +2 more	GLikely pathogenic
Select item 555898	NM_000098.3(CPT2):c.62C>A (p.Pro21His)	CPT2, LOC129930561 (P21H)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +4 more	GUncertain significance
Select item 555589	NM_000098.3(CPT2):c.72_97del (p.Leu25fs)	CPT2, LOC129930561 (L25fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 371730	NM_000098.3(CPT2):c.75del (p.Ser26fs)	CPT2, LOC129930561 (S26fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +4 more	GPathogenic/Likely pathogenic
Select item 371733	NM_000098.3(CPT2):c.95del (p.Gly32fs)	CPT2, LOC129930561 (G32fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, myopathic form +2 more	GLikely pathogenic
Select item 495549	NM_000098.3(CPT2):c.98del (p.Gln33fs)	CPT2, LOC129930561 (Q33fs)	Deletion (frameshift variant)	Carnitine palmitoyltransferase II deficiency +5 more	GPathogenic
Select item 555897	NM_000098.3(CPT2):c.99G>C (p.Gln33His)	CPT2, LOC129930561 (Q33H)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +4 more	GUncertain significance
Select item 556044	NM_000098.3(CPT2):c.102C>G (p.Tyr34Ter)	CPT2, LOC129930561 (Y34*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 371697	NM_000098.3(CPT2):c.110_111dup (p.Ser38fs)	CPT2, LOC129930561 (S38fs)	Microsatellite (frameshift variant)	Carnitine palmitoyltransferase II deficiency +5 more	GPathogenic/Likely pathogenic
Select item 8954	NM_000098.3(CPT2):c.149C>A (p.Pro50His)	CPT2, LOC129930561 (P50H)	Single nucleotide variant (missense variant)	Chronic pain +13 more	GPathogenic
Select item 553015	NM_000098.3(CPT2):c.302del (p.Ala101fs)	CPT2 (A101fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 8968	NM_000098.3(CPT2):c.359A>G (p.Tyr120Cys)	CPT2 (Y120C)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GPathogenic/Likely pathogenic
Select item 203659	NM_000098.3(CPT2):c.370C>T (p.Arg124Ter)	CPT2 (R124*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase II deficiency, neonatal form +5 more	GPathogenic/Likely pathogenic
Select item 553350	NM_000098.3(CPT2):c.371G>A (p.Arg124Gln)	CPT2 (R124Q)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +1 more	GConflicting classifications of pathogenicity
Select item 554891	NM_000098.3(CPT2):c.401_404del (p.Phe134fs)	CPT2 (F134fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 130889	NM_000098.3(CPT2):c.452G>A (p.Arg151Gln)	CPT2 (R151Q)	Single nucleotide variant (missense variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 552637	NM_000098.3(CPT2):c.481C>T (p.Arg161Trp)	CPT2 (R161W)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, myopathic form +4 more	GConflicting classifications of pathogenicity
Select item 550520	NM_000098.3(CPT2):c.520G>T (p.Glu174Ter)	CPT2 (E174*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase II deficiency, severe infantile form +1 more	GPathogenic/Likely pathogenic
Select item 8957	NM_000098.3(CPT2):c.520G>A (p.Glu174Lys)	CPT2 (E174K)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +2 more	GPathogenic/Likely pathogenic
Select item 557509	NM_000098.3(CPT2):c.606T>G (p.Tyr202Ter)	CPT2 (Y202*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 371734	NM_000098.3(CPT2):c.606T>A (p.Tyr202Ter)	CPT2 (Y202*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase II deficiency, neonatal form +2 more	GLikely pathogenic
Select item 554042	NM_000098.3(CPT2):c.627_630dup (p.Pro211fs)	CPT2 (P211fs)	Duplication (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +2 more	GPathogenic/Likely pathogenic
Select item 551107	NM_000098.3(CPT2):c.670del (p.Thr224fs)	CPT2 (T224fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +2 more	GPathogenic/Likely pathogenic
Select item 8964	NM_000098.3(CPT2):c.680C>T (p.Pro227Leu)	CPT2 (P227L)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GPathogenic/Likely pathogenic
Select item 203661	NM_000098.3(CPT2):c.691C>T (p.Arg231Trp)	CPT2 (R231W)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more	GConflicting classifications of pathogenicity
Select item 552913	NM_000098.3(CPT2):c.725del (p.His242fs)	CPT2 (H242fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 551165	NM_000098.3(CPT2):c.739A>T (p.Arg247Trp)	CPT2 (R247W)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +3 more	GUncertain significance
Select item 554639	NM_000098.3(CPT2):c.748_749del (p.Asn250fs)	CPT2 (N250fs)	Deletion (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +2 more	GPathogenic/Likely pathogenic
Select item 372351	NM_000098.3(CPT2):c.852del (p.Glu285fs)	CPT2 (E285fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +5 more	GPathogenic/Likely pathogenic
Select item 555964	NM_000098.3(CPT2):c.879_880del (p.Ser293fs)	CPT2 (S293fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 166953	NM_000098.3(CPT2):c.886C>T (p.Arg296Ter)	CPT2 (R296*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 554735	NM_000098.3(CPT2):c.930C>T (p.Gly310=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +4 more	GConflicting classifications of pathogenicity
Select item 558056	NM_000098.3(CPT2):c.989dup (p.Ile332fs)	CPT2 (I332fs)	Duplication (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more	GPathogenic/Likely pathogenic
Select item 557272	NM_000098.3(CPT2):c.1021_1024delinsTTG (p.Asn341fs)	CPT2 (N341fs)	Indel (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +1 more	GLikely pathogenic
Select item 376799	NM_000098.3(CPT2):c.1025T>C (p.Met342Thr)	CPT2 (M342T)	Single nucleotide variant (missense variant)	not provided +7 more	GConflicting classifications of pathogenicity
Select item 371762	NM_000098.3(CPT2):c.1046dup (p.Asn349fs)	CPT2 (N349fs)	Duplication (frameshift variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +3 more	GLikely pathogenic
Select item 558286	NM_000098.3(CPT2):c.1046_1047del (p.Asn349fs)	CPT2 (N349fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 371785	NM_000098.3(CPT2):c.1053G>A (p.Trp351Ter)	CPT2 (W351*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase II deficiency, myopathic form +2 more	GLikely pathogenic
Select item 8958	NM_000098.3(CPT2):c.1148T>A (p.Phe383Tyr)	CPT2 (F383Y)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +6 more	GPathogenic/Likely pathogenic
Select item 371775	NM_000098.3(CPT2):c.1345delinsTA (p.Gln449Ter)	CPT2 (Q449*)	Indel (nonsense)	Carnitine palmitoyl transferase II deficiency, severe infantile form +3 more	GPathogenic/Likely pathogenic
Select item 371729	NM_000098.3(CPT2):c.1345C>T (p.Gln449Ter)	CPT2 (Q449*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 188991	NM_000098.3(CPT2):c.1348A>T (p.Arg450Ter)	CPT2 (R450*)	Single nucleotide variant (nonsense)	Carnitine palmitoyltransferase II deficiency +1 more	GPathogenic/Likely pathogenic
Select item 371754	NM_000098.3(CPT2):c.1359_1362del (p.Lys453fs)	CPT2 (K453fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +2 more	GLikely pathogenic
Select item 551702	NM_000098.3(CPT2):c.1360_1362del (p.Glu454del)	CPT2 (E454del)	Deletion (inframe_deletion)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GUncertain significance
Select item 188753	NM_000098.3(CPT2):c.1369A>T (p.Lys457Ter)	CPT2 (K457*)	Single nucleotide variant (nonsense)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +5 more	GPathogenic/Likely pathogenic
Select item 554750	NM_000098.3(CPT2):c.1375C>T (p.Gln459Ter)	CPT2 (Q459*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 550475	NM_000098.3(CPT2):c.1404G>T (p.Gln468His)	CPT2 (Q468H)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +4 more	GUncertain significance
Select item 371750	NM_000098.3(CPT2):c.1414C>T (p.Gln472Ter)	CPT2 (Q472*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase II deficiency, neonatal form +4 more	GPathogenic/Likely pathogenic
Select item 554598	NM_000098.3(CPT2):c.1432C>T (p.Gln478Ter)	CPT2 (Q478*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 447218	NM_000098.3(CPT2):c.1438G>A (p.Gly480Arg)	CPT2 (G480R)	Single nucleotide variant (missense variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +7 more	GUncertain significance
Select item 551971	NM_000098.3(CPT2):c.1446_1447del (p.Val483fs)	CPT2 (V483fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +1 more	GLikely pathogenic
Select item 555252	NM_000098.3(CPT2):c.1459G>A (p.Glu487Lys)	CPT2 (E487K)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +3 more	GConflicting classifications of pathogenicity
Select item 550000	NM_000098.3(CPT2):c.1505T>C (p.Ile502Thr)	CPT2 (I502T)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +1 more	GConflicting classifications of pathogenicity
Select item 371712	NM_000098.3(CPT2):c.1545_1548del (p.Phe516fs)	CPT2 (F516fs)	Deletion (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +3 more	GPathogenic/Likely pathogenic
Select item 556730	NM_000098.3(CPT2):c.1563del (p.Arg522fs)	CPT2 (R522fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 553793	NM_000098.3(CPT2):c.1608dup (p.Lys537fs)	CPT2 (K537fs)	Duplication (frameshift variant +1 more)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +2 more	GPathogenic/Likely pathogenic
Select item 371764	NM_000098.3(CPT2):c.1614C>A (p.Tyr538Ter)	CPT2 (Y538*)	Single nucleotide variant (nonsense +1 more)	Carnitine palmitoyl transferase II deficiency, neonatal form +2 more	GLikely pathogenic
Select item 166955	NM_000098.3(CPT2):c.1634A>C (p.Glu545Ala)	CPT2 (E545A)	Single nucleotide variant (missense variant +1 more)	Carnitine palmitoyl transferase II deficiency, severe infantile form +2 more	GConflicting classifications of pathogenicity
Select item 371707	NM_000098.3(CPT2):c.1645+2T>G	CPT2	Single nucleotide variant (splice donor variant +1 more)	Carnitine palmitoyl transferase II deficiency, neonatal form +2 more	GLikely pathogenic
Select item 8955	NM_000098.3(CPT2):c.1657G>A (p.Asp553Asn)	CPT2 (D553N +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +1 more	GConflicting classifications of pathogenicity
Select item 460426	NM_000098.3(CPT2):c.1679G>A (p.Arg560Gln)	CPT2 (R560Q +1 more)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 557080	NM_000098.3(CPT2):c.1767del (p.Ser590fs)	CPT2 (S590fs +1 more)	Deletion (frameshift variant)	Carnitine palmitoyltransferase II deficiency +1 more	GPathogenic/Likely pathogenic
Select item 371705	NM_000098.3(CPT2):c.1774_1775del (p.Leu592fs)	CPT2 (L592fs +1 more)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +3 more	GPathogenic/Likely pathogenic
Select item 552897	NM_000098.3(CPT2):c.1859G>A (p.Trp620Ter)	CPT2 (W620* +1 more)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 553242	NM_000098.3(CPT2):c.1867_1890del (p.Cys623_Gly630del)	CPT2	Deletion (inframe_deletion)	Carnitine palmitoyl transferase II deficiency, myopathic form +4 more	GConflicting classifications of pathogenicity
Select item 8956	NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser)	CPT2 (Y628S +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GPathogenic/Likely pathogenic
Select item 557340	NM_000098.3(CPT2):c.1929del (p.Ala643_Leu644insTer)	CPT2	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +2 more	GPathogenic/Likely pathogenic
Select item 557241	NM_000098.3(CPT2):c.1933dup (p.Glu645fs)	CPT2 (E622fs +1 more)	Duplication (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 554726	NM_000098.3(CPT2):c.1952T>G (p.Leu651Ter)	CPT2 (L651* +1 more)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GUncertain significance
Select item 557352	NM_000098.3(CPT2):c.1973_1975del (p.Ser658_Ter659delinsLys)	CPT2	Deletion (stop lost)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 72