C1833511[trait identifier] AND "Baylor Genetics"[submitter] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 495549	NM_000098.3(CPT2):c.98del (p.Gln33fs)	CPT2, LOC129930561 (Q33fs)	Deletion (frameshift variant)	Carnitine palmitoyltransferase II deficiency +5 more	GPathogenic
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 851878	NM_000098.3(CPT2):c.200C>G (p.Ala67Gly)	CPT2 (A67G)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely pathogenic
Select item 8953	NM_000098.3(CPT2):c.338C>T (p.Ser113Leu)	CPT2 (S113L)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +7 more	GPathogenic/Likely pathogenic
Select item 845241	NM_000098.3(CPT2):c.341-2A>G	CPT2	Single nucleotide variant (splice acceptor variant)	not provided +3 more	GPathogenic/Likely 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 855620	NM_000098.3(CPT2):c.379G>A (p.Val127Ile)	CPT2 (V127I)	Single nucleotide variant (missense variant)	not provided +5 more	GUncertain significance
Select item 374947	NM_000098.3(CPT2):c.448A>G (p.Thr150Ala)	CPT2 (T150A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1358726	NM_000098.3(CPT2):c.451C>T (p.Arg151Trp)	CPT2 (R151W)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +2 more	GPathogenic
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 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 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 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 767412	NM_000098.3(CPT2):c.846C>T (p.Pro282=)	CPT2	Single nucleotide variant (synonymous variant)	Carnitine palmitoyltransferase II deficiency +2 more	GConflicting classifications of pathogenicity
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 939316	NM_000098.3(CPT2):c.887G>A (p.Arg296Gln)	CPT2 (R296Q)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, myopathic form +5 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 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 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 92430	NM_000098.3(CPT2):c.1239_1240del (p.Lys414fs)	CPT2 (K414fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more	GPathogenic
Select item 429340	NM_000098.3(CPT2):c.1324dup (p.Thr442fs)	CPT2 (T442fs)	Duplication (frameshift variant)	Carnitine palmitoyltransferase II deficiency +3 more	GPathogenic/Likely 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 449681	NM_000098.3(CPT2):c.1372A>C (p.Lys458Gln)	CPT2 (K458Q)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +2 more	GConflicting classifications of pathogenicity
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 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 8959	NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys)	CPT2 (R503C)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GPathogenic/Likely pathogenic
Select item 203663	NM_000098.3(CPT2):c.1511C>T (p.Pro504Leu)	CPT2 (P504L)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +3 more	GPathogenic/Likely pathogenic
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 633182	NM_000098.3(CPT2):c.1569_1570del (p.His523fs)	CPT2 (H523fs)	Microsatellite (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +3 more	GPathogenic/Likely 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 130890	NM_000098.3(CPT2):c.1646G>A (p.Gly549Asp)	CPT2 (G549D +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GConflicting classifications of pathogenicity
Select item 653761	NM_000098.3(CPT2):c.1666_1667del (p.Leu556fs)	CPT2 (L533fs +1 more)	Deletion (frameshift variant)	not provided +5 more	GPathogenic
Select item 577198	NM_000098.3(CPT2):c.1784del (p.Pro595fs)	CPT2 (P572fs +1 more)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1363819	NM_000098.3(CPT2):c.1810C>T (p.Pro604Ser)	CPT2 (P581S +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase II deficiency, severe infantile form +5 more	GConflicting classifications of pathogenicity
Select item 845527	NM_000098.3(CPT2):c.1816_1817del (p.Val606fs)	CPT2 (V583fs +1 more)	Deletion (frameshift variant)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 1402823	NM_000098.3(CPT2):c.1822G>C (p.Asp608His)	CPT2 (D585H +1 more)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 8952	NM_000098.3(CPT2):c.1891C>T (p.Arg631Cys)	CPT2 (R631C +1 more)	Single nucleotide variant (missense variant)	Carnitine palmitoyltransferase II deficiency +5 more	GPathogenic
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 837370	NM_000098.3(CPT2):c.1932dup (p.Glu645fs)	CPT2 (E622fs +1 more)	Duplication (frameshift variant)	Encephalopathy, acute, infection-induced, susceptibility to, 4 +2 more	GPathogenic/Likely pathogenic

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Items: 50