C1833508[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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

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Items: 40