1376[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2672311	Single allele	A3GALT2, ACOT11 +1226 more	Inversion	Bilateral polymicrogyria	GLikely pathogenic
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	ACADM, ACOT11 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	ACOT11, AK4 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 1189322	NC_000001.11:g.53196246C>G	CPT2	Single nucleotide variant	not provided	GLikely benign
Select item 1236333	NC_000001.11:g.53196294G>A	CPT2	Single nucleotide variant	not provided	GBenign
Select item 297591	NM_000098.2(CPT2):c.-477C>T	CPT2	Single nucleotide variant	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 297592	NM_000098.2(CPT2):c.-461T>C	CPT2	Single nucleotide variant	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 297593	NM_000098.2(CPT2):c.-285C>A	CPT2	Single nucleotide variant	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 297594	NM_000098.3(CPT2):c.-282C>T	CPT2	Single nucleotide variant	Carnitine palmitoyltransferase II deficiency +4 more	GUncertain significance
Select item 297596	NM_000098.2(CPT2):c.-242G>C	CPT2	Single nucleotide variant	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 297595	NM_000098.2(CPT2):c.-242G>A	CPT2	Single nucleotide variant	Carnitine palmitoyltransferase II deficiency +1 more	GLikely benign
Select item 297597	NM_000098.2(CPT2):c.-229G>T	CPT2	Single nucleotide variant	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 297598	NM_000098.2(CPT2):c.-216A>G	CPT2	Single nucleotide variant	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 297599	NM_000098.3(CPT2):c.-117G>T	CPT2, LOC129930561	Single nucleotide variant (5 prime UTR variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 297600	NM_000098.3(CPT2):c.-101C>A	CPT2, LOC129930561	Single nucleotide variant (5 prime UTR variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 2742309	NM_000098.3(CPT2):c.6G>T (p.Val2=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 796465	NM_000098.3(CPT2):c.6G>A (p.Val2=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1389368	NM_000098.3(CPT2):c.7C>T (p.Pro3Ser)	CPT2, LOC129930561 (P3S)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 2089754	NM_000098.3(CPT2):c.9C>T (p.Pro3=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 502630	NM_000098.3(CPT2):c.12C>G (p.Arg4=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2017765	NM_000098.3(CPT2):c.15G>A (p.Leu5=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1669628	NM_000098.3(CPT2):c.15G>C (p.Leu5=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency +4 more	GLikely benign
Select item 2795157	NM_000098.3(CPT2):c.20dup (p.Arg8fs)	CPT2, LOC129930561 (R8fs)	Duplication (frameshift variant)	Carnitine palmitoyltransferase II deficiency	GPathogenic
Select item 2739194	NM_000098.3(CPT2):c.21G>T (p.Leu7=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1001663	NM_000098.3(CPT2):c.26C>T (p.Ala9Val)	CPT2, LOC129930561 (A9V)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 1073763	NM_000098.3(CPT2):c.28_29insAGCAAG (p.Trp10Ter)	CPT2, LOC129930561 (W10*)	Insertion (nonsense)	Carnitine palmitoyl transferase II deficiency, severe infantile form +3 more	GPathogenic
Select item 3241204	NM_000098.3(CPT2):c.29G>A (p.Trp10Ter)	CPT2, LOC129930561 (W10*)	Single nucleotide variant (nonsense)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GLikely pathogenic
Select item 2102859	NM_000098.3(CPT2):c.29G>C (p.Trp10Ser)	CPT2, LOC129930561 (W10S)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 1967523	NM_000098.3(CPT2):c.30G>T (p.Trp10Cys)	CPT2, LOC129930561 (W10C)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 1616446	NM_000098.3(CPT2):c.33C>T (p.Pro11=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 793769	NM_000098.3(CPT2):c.33C>G (p.Pro11=)	LOC129930561, CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1345225	NM_000098.3(CPT2):c.34C>T (p.Arg12Trp)	CPT2, LOC129930561 (R12W)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 460434	NM_000098.3(CPT2):c.35G>A (p.Arg12Gln)	CPT2, LOC129930561 (R12Q)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
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 1458619	NM_000098.3(CPT2):c.39_46dup (p.Val16fs)	CPT2, LOC129930561 (V16fs)	Duplication (frameshift variant)	Carnitine palmitoyltransferase II deficiency	GPathogenic
Select item 740886	NM_000098.3(CPT2):c.36G>C (p.Arg12=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2765060	NM_000098.3(CPT2):c.43_62dup (p.Ser22fs)	CPT2, LOC129930561 (S22fs)	Duplication (frameshift variant)	Carnitine palmitoyltransferase II deficiency	GPathogenic
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 1210388	NM_000098.3(CPT2):c.38_39del (p.Gly13fs)	CPT2, LOC129930561 (G13fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form	GLikely pathogenic
Select item 1541590	NM_000098.3(CPT2):c.39C>A (p.Gly13=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1501323	NM_000098.3(CPT2):c.40C>T (p.Pro14Ser)	CPT2, LOC129930561 (P14S)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 1550050	NM_000098.3(CPT2):c.42C>G (p.Pro14=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 757809	NM_000098.3(CPT2):c.42C>T (p.Pro14=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1151782	NM_000098.3(CPT2):c.45G>C (p.Ala15=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 767391	NM_000098.3(CPT2):c.45G>T (p.Ala15=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 642692	NM_000098.3(CPT2):c.46G>T (p.Val16Phe)	LOC129930561, CPT2 (V16F)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 1301397	NM_000098.3(CPT2):c.49G>T (p.Gly17Cys)	CPT2, LOC129930561 (G17C)	Single nucleotide variant (missense variant)	not specified	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 1026121	NM_000098.3(CPT2):c.53C>T (p.Pro18Leu)	CPT2, LOC129930561 (P18L)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, neonatal form +5 more	GUncertain significance
Select item 2837340	NM_000098.3(CPT2):c.54G>A (p.Pro18=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2755220	NM_000098.3(CPT2):c.54G>C (p.Pro18=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 648717	NM_000098.3(CPT2):c.56G>A (p.Gly19Glu)	CPT2, LOC129930561 (G19E)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 2006795	NM_000098.3(CPT2):c.57A>G (p.Gly19=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2680938	NM_000098.3(CPT2):c.63dup (p.Ser22fs)	CPT2, LOC129930561 (S22fs)	Duplication (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4	GPathogenic
Select item 1984282	NM_000098.3(CPT2):c.59C>T (p.Ala20Val)	CPT2, LOC129930561 (A20V)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 1674195	NM_000098.3(CPT2):c.60C>T (p.Ala20=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
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 2308894	NM_000098.3(CPT2):c.64A>T (p.Ser22Cys)	CPT2, LOC129930561 (S22C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2038580	NM_000098.3(CPT2):c.65G>T (p.Ser22Ile)	CPT2, LOC129930561 (S22I)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 943040	NM_000098.3(CPT2):c.65G>A (p.Ser22Asn)	CPT2, LOC129930561 (S22N)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +4 more	GUncertain significance
Select item 1623790	NM_000098.3(CPT2):c.66T>C (p.Ser22=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1355325	NM_000098.3(CPT2):c.67C>G (p.Arg23Gly)	LOC129930561, CPT2 (R23G)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	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 2064794	NM_000098.3(CPT2):c.69G>A (p.Arg23=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1536082	NM_000098.3(CPT2):c.69G>T (p.Arg23=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1122279	NM_000098.3(CPT2):c.72C>T (p.Pro24=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1389835	NM_000098.3(CPT2):c.74T>C (p.Leu25Pro)	CPT2, LOC129930561 (L25P)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 2118738	NM_000098.3(CPT2):c.75C>G (p.Leu25=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
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 1717381	NM_000098.3(CPT2):c.82G>C (p.Gly28Arg)	CPT2, LOC129930561 (G28R)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 1569391	NM_000098.3(CPT2):c.84C>A (p.Gly28=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 784871	NM_000098.3(CPT2):c.84C>T (p.Gly28=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1513069	NM_000098.3(CPT2):c.85T>G (p.Ser29Ala)	CPT2, LOC129930561 (S29A)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 1913148	NM_000098.3(CPT2):c.86C>G (p.Ser29Cys)	CPT2, LOC129930561 (S29C)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 2152365	NM_000098.3(CPT2):c.87C>T (p.Ser29=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1905988	NM_000098.3(CPT2):c.88G>C (p.Gly30Arg)	CPT2, LOC129930561 (G30R)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 1402012	NM_000098.3(CPT2):c.88G>A (p.Gly30Arg)	CPT2, LOC129930561 (G30R)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 999357	NM_000098.3(CPT2):c.88G>T (p.Gly30Trp)	CPT2, LOC129930561 (G30W)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 1015095	NM_000098.3(CPT2):c.89G>A (p.Gly30Glu)	CPT2, LOC129930561 (G30E)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 2966176	NM_000098.3(CPT2):c.90G>T (p.Gly30=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1126431	NM_000098.3(CPT2):c.90G>C (p.Gly30=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 874073	NM_000098.3(CPT2):c.91C>T (p.Pro31Ser)	CPT2, LOC129930561 (P31S)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 2831134	NM_000098.3(CPT2):c.93C>G (p.Pro31=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1648340	NM_000098.3(CPT2):c.93C>T (p.Pro31=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
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 1638265	NM_000098.3(CPT2):c.102C>T (p.Tyr34=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
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 740236	NM_000098.3(CPT2):c.103C>T (p.Leu35=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +4 more	GLikely benign
Select item 2680949	NM_000098.3(CPT2):c.106dup (p.Gln36fs)	CPT2, LOC129930561 (Q36fs)	Duplication (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4	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 1133255	NM_000098.3(CPT2):c.108G>A (p.Gln36=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1484607	NM_000098.3(CPT2):c.109C>T (p.Arg37Cys)	CPT2, LOC129930561 (R37C)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 1108008	NM_000098.3(CPT2):c.111C>G (p.Arg37=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 1200879	NM_000098.3(CPT2):c.122C>T (p.Pro41Leu)	CPT2, LOC129930561 (P41L)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GUncertain significance
Select item 651955	NM_000098.3(CPT2):c.122C>A (p.Pro41His)	CPT2, LOC129930561 (P41H)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency	GUncertain significance
Select item 1621530	NM_000098.3(CPT2):c.123C>A (p.Pro41=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 2846875	NM_000098.3(CPT2):c.126C>T (p.Thr42=)	CPT2, LOC129930561	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency	GLikely benign
Select item 585724	NM_000098.3(CPT2):c.130C>T (p.His44Tyr)	CPT2, LOC129930561 (H44Y)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +6 more	GUncertain significance

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