ClinVar for MedGen (Select 316820) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from MedGen

Items: 1 to 100 of 937

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065378	NM_001876.4(CPT1A):c.453+1dup	CPT1A	Duplication (splice donor variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 3064806	NM_001876.4(CPT1A):c.691del (p.Tyr231fs)	CPT1A (Y231fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 3023745	NM_001876.4(CPT1A):c.2029-8C>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 3021281	NM_001876.4(CPT1A):c.282-6C>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 3019237	NM_001876.4(CPT1A):c.1575+13T>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 3018771	NM_001876.4(CPT1A):c.2028+11T>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 3018763	NM_001876.4(CPT1A):c.1173G>A (p.Trp391Ter)	CPT1A, LOC126861244 (W391*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 3018251	NM_001876.4(CPT1A):c.142-13T>C	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 3017411	NM_001876.4(CPT1A):c.1876-19C>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 3012818	NM_001876.4(CPT1A):c.880-17A>G	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 3011720	NM_001876.4(CPT1A):c.2061C>T (p.Ser687=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 3011568	NM_001876.4(CPT1A):c.1876-10T>G	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 3010074	NM_001876.4(CPT1A):c.1576-19T>C	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 3009119	NM_001876.4(CPT1A):c.2235+8T>C	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 3007964	NM_001876.4(CPT1A):c.454-12C>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 3005313	NM_001876.4(CPT1A):c.694-15G>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 3005117	NM_001876.4(CPT1A):c.441C>T (p.Thr147=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 3002590	NM_001876.4(CPT1A):c.1458+19C>G	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 3002314	NM_001876.4(CPT1A):c.1548C>T (p.Thr516=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 3001601	NM_001876.4(CPT1A):c.1218G>A (p.Gln406=)	CPT1A, LOC126861244	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 3000472	NM_001876.4(CPT1A):c.142-14G>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 3000364	NM_001876.4(CPT1A):c.694-20C>G	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2997936	NM_001876.4(CPT1A):c.153C>T (p.Ile51=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2997784	NM_001876.4(CPT1A):c.528C>G (p.Val176=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2992864	NM_001876.4(CPT1A):c.2029-14G>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2990437	NM_001876.4(CPT1A):c.1353-20C>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2988992	NM_001876.4(CPT1A):c.2062C>T (p.Gln688Ter)	CPT1A (Q688*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 2984779	NM_001876.4(CPT1A):c.213A>G (p.Thr71=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2983073	NM_001876.4(CPT1A):c.1353-13G>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2982017	NM_001876.4(CPT1A):c.967+20G>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2980045	NM_001876.4(CPT1A):c.1437G>T (p.Pro479=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2970134	NM_001876.4(CPT1A):c.687A>G (p.Thr229=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2964170	NM_001876.4(CPT1A):c.693+16C>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2963717	NM_001876.4(CPT1A):c.1101G>A (p.Leu367=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2955495	NM_001876.4(CPT1A):c.1740+19G>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2919245	NM_001876.4(CPT1A):c.2028+19_2028+21del	CPT1A	Microsatellite (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2918001	NM_001876.4(CPT1A):c.772-7T>C	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2917670	NM_001876.4(CPT1A):c.1352+13C>T	CPT1A, LOC126861244	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2916033	NM_001876.4(CPT1A):c.968-18A>G	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2915566	NM_001876.4(CPT1A):c.375C>A (p.Ser125=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2914408	NM_001876.4(CPT1A):c.771+17G>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2913900	NM_001876.4(CPT1A):c.556-17dup	CPT1A	Duplication (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GBenign
Select item 2913619	NM_001876.4(CPT1A):c.771+20C>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2912641	NM_001876.4(CPT1A):c.1528C>G (p.Pro510Ala)	CPT1A (P510A)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 2911912	NM_001876.4(CPT1A):c.1876-17C>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2911099	NM_001876.4(CPT1A):c.360C>T (p.Val120=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2911056	NM_001876.4(CPT1A):c.453+18T>C	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2910532	NM_001876.4(CPT1A):c.2235+16A>G	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2909977	NM_001876.4(CPT1A):c.48G>A (p.Pro16=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2904804	NM_001876.4(CPT1A):c.1876-6A>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2901874	NM_001876.4(CPT1A):c.2029-16C>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2900296	NM_001876.4(CPT1A):c.141+17T>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2900265	NM_001876.4(CPT1A):c.915C>A (p.Ser305=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2899099	NM_001876.4(CPT1A):c.693+15A>G	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2898595	NM_001876.4(CPT1A):c.2236-14T>C	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2896157	NM_001876.4(CPT1A):c.556-17del	CPT1A	Deletion (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GBenign
Select item 2893279	NM_001876.4(CPT1A):c.142-12G>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2891299	NM_001876.4(CPT1A):c.454-14T>C	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2890382	NM_001876.4(CPT1A):c.771+15C>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2890377	NM_001876.4(CPT1A):c.879+17C>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2889628	NM_001876.4(CPT1A):c.772-20C>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2886394	NM_001876.4(CPT1A):c.168G>A (p.Pro56=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2885779	NM_001876.4(CPT1A):c.1164-20G>A	CPT1A, LOC126861244	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2884754	NM_001876.4(CPT1A):c.1716G>A (p.Leu572=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2882966	NM_001876.4(CPT1A):c.1768G>A (p.Glu590Lys)	CPT1A (E590K)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 2881808	NM_001876.4(CPT1A):c.1842C>T (p.Asp614=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2880294	NM_001876.4(CPT1A):c.142-15G>C	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2878095	NM_001876.4(CPT1A):c.968-11G>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2874569	NM_001876.4(CPT1A):c.759C>T (p.Asn253=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2873870	NM_001876.4(CPT1A):c.1032G>A (p.Lys344=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2872771	NM_001876.4(CPT1A):c.2284A>G (p.Ile762Val)	CPT1A (I762V)	Single nucleotide variant (missense variant +1 more)	Carnitine palmitoyl transferase 1A deficiency	GUncertain significance
Select item 2869894	NM_001876.4(CPT1A):c.1542C>T (p.Tyr514=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2869424	NM_001876.4(CPT1A):c.282-14G>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2867998	NM_001876.4(CPT1A):c.1554G>T (p.Leu518=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2863073	NM_001876.4(CPT1A):c.1039dup (p.Leu347fs)	CPT1A (L347fs)	Duplication (frameshift variant)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 2863067	NM_001876.4(CPT1A):c.1458+9T>C	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2860899	NM_001876.4(CPT1A):c.694-6C>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2860364	NM_001876.4(CPT1A):c.1163+12A>G	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2860095	NM_001876.4(CPT1A):c.2128G>C (p.Gly710Arg)	CPT1A (G710R)	Single nucleotide variant (missense variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 2857747	NM_001876.4(CPT1A):c.2142+19G>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2856056	NM_001876.4(CPT1A):c.717C>G (p.Tyr239Ter)	CPT1A (Y239*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 2855086	NM_001876.4(CPT1A):c.1938C>A (p.Leu646=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2852281	NM_001876.4(CPT1A):c.792A>G (p.Pro264=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2851329	NM_001876.4(CPT1A):c.1203del (p.Asn404fs)	CPT1A, LOC126861244 (N404fs)	Deletion (frameshift variant)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 2850838	NM_001876.4(CPT1A):c.1353-16T>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2850837	NM_001876.4(CPT1A):c.1353-15G>C	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2849794	NM_001876.4(CPT1A):c.1352+1G>C	CPT1A, LOC126861244	Single nucleotide variant (splice donor variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely pathogenic
Select item 2849602	NM_001876.4(CPT1A):c.281+7A>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2848024	NM_001876.4(CPT1A):c.222C>G (p.Tyr74Ter)	CPT1A (Y74*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 2846555	NM_001876.4(CPT1A):c.1782C>A (p.Thr594=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2845245	NM_001876.4(CPT1A):c.198G>T (p.Val66=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2845232	NM_001876.4(CPT1A):c.2236-16_2236-10dup	CPT1A	Duplication (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2843427	NM_001876.4(CPT1A):c.1734C>T (p.His578=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2840673	NM_001876.4(CPT1A):c.1782C>G (p.Thr594=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2839506	NM_001876.4(CPT1A):c.1875+9C>T	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2838303	NM_001876.4(CPT1A):c.1740+20G>A	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2836941	NM_001876.4(CPT1A):c.2184A>C (p.Gly728=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2831097	NM_001876.4(CPT1A):c.1839C>A (p.Cys613Ter)	CPT1A (C613*)	Single nucleotide variant (nonsense)	Carnitine palmitoyl transferase 1A deficiency	GPathogenic
Select item 2828689	NM_001876.4(CPT1A):c.1163+20T>C	CPT1A	Single nucleotide variant (intron variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign
Select item 2825367	NM_001876.4(CPT1A):c.444G>A (p.Lys148=)	CPT1A	Single nucleotide variant (synonymous variant)	Carnitine palmitoyl transferase 1A deficiency	GLikely benign

<< First< Prev

Page of 10