ClinVar for MedGen (Select 91001) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 573

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024055	NM_012213.3(MLYCD):c.1191G>C (p.Pro397=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 3023587	NM_012213.3(MLYCD):c.948+12G>A	LOC126862422, MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 3022725	NM_012213.3(MLYCD):c.1239C>A (p.Gly413=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 3021821	NM_012213.3(MLYCD):c.1233C>T (p.His411=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 3019843	NM_012213.3(MLYCD):c.1362C>T (p.Tyr454=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 3019039	NM_012213.3(MLYCD):c.1254C>G (p.Pro418=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 3018777	NM_012213.3(MLYCD):c.1365C>A (p.Arg455=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 3018505	NM_012213.3(MLYCD):c.642-4C>G	MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 3018353	NM_012213.3(MLYCD):c.1032G>A (p.Ser344=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 3017380	NM_012213.3(MLYCD):c.493C>T (p.Gln165Ter)	LOC130059555, MLYCD (Q165*)	Single nucleotide variant (nonsense)	Deficiency of malonyl-CoA decarboxylase	GPathogenic
Select item 3015068	NM_012213.3(MLYCD):c.507G>C (p.Leu169=)	LOC130059555, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 3013205	NM_012213.3(MLYCD):c.264G>A (p.Leu88=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 3012152	NM_012213.3(MLYCD):c.180A>C (p.Thr60=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 3011260	NM_012213.3(MLYCD):c.936C>T (p.Val312=)	LOC126862422, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 3009983	NM_012213.3(MLYCD):c.687C>T (p.Arg229=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 3009413	NM_012213.3(MLYCD):c.414C>A (p.Arg138=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 3004212	NM_012213.3(MLYCD):c.246C>G (p.Ala82=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 3001532	NM_012213.3(MLYCD):c.1290G>C (p.Leu430=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2998484	NM_012213.3(MLYCD):c.429C>T (p.His143=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2997776	NM_012213.3(MLYCD):c.1392C>T (p.Asn464=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2997750	NM_012213.3(MLYCD):c.690C>T (p.Arg230=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2995189	NM_012213.3(MLYCD):c.949-13C>T	MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2993516	NM_012213.3(MLYCD):c.483G>C (p.Leu161=)	LOC130059555, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2993509	NM_012213.3(MLYCD):c.1024C>T (p.Leu342=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2989221	NM_012213.3(MLYCD):c.165G>A (p.Glu55=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2988399	NM_012213.3(MLYCD):c.822A>C (p.Pro274=)	LOC126862422, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2987390	NM_012213.3(MLYCD):c.193G>T (p.Glu65Ter)	MLYCD (E65*)	Single nucleotide variant (nonsense)	Deficiency of malonyl-CoA decarboxylase	GPathogenic
Select item 2986225	NM_012213.3(MLYCD):c.743_753dup (p.Val252fs)	MLYCD (V252fs)	Duplication (frameshift variant)	Deficiency of malonyl-CoA decarboxylase	GPathogenic
Select item 2983429	NM_012213.3(MLYCD):c.702C>T (p.Tyr234=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2983037	NM_012213.3(MLYCD):c.369G>A (p.Leu123=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2980298	NM_012213.3(MLYCD):c.849C>T (p.Ile283=)	LOC126862422, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2978542	NM_012213.3(MLYCD):c.261G>C (p.Leu87=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2978375	NM_012213.3(MLYCD):c.93G>A (p.Gln31=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2975497	NM_012213.3(MLYCD):c.641+9T>C	MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2971237	NM_012213.3(MLYCD):c.609T>C (p.His203=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2967508	NM_012213.3(MLYCD):c.210C>T (p.Asp70=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2965785	NM_012213.3(MLYCD):c.330C>G (p.Leu110=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2965658	NM_012213.3(MLYCD):c.9C>G (p.Gly3=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2963422	NM_012213.3(MLYCD):c.1116C>T (p.Asn372=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2963227	NM_012213.3(MLYCD):c.642-6C>A	MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2962814	NM_012213.3(MLYCD):c.1215C>T (p.Tyr405=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2962813	NM_012213.3(MLYCD):c.237C>A (p.Ala79=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2962088	NM_012213.3(MLYCD):c.174G>A (p.Glu58=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2960657	NM_012213.3(MLYCD):c.723T>G (p.Ser241=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2959131	NM_012213.3(MLYCD):c.306G>A (p.Val102=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2957086	NM_012213.3(MLYCD):c.642-8C>T	MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2955855	NM_012213.3(MLYCD):c.346C>T (p.Gln116Ter)	MLYCD (Q116*)	Single nucleotide variant (nonsense)	Deficiency of malonyl-CoA decarboxylase	GPathogenic
Select item 2955631	NM_012213.3(MLYCD):c.529-11C>A	MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2955406	NM_012213.3(MLYCD):c.312G>A (p.Glu104=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2919673	NM_012213.3(MLYCD):c.520_528+11del	LOC130059555, MLYCD	Deletion (splice donor variant)	Deficiency of malonyl-CoA decarboxylase	GLikely pathogenic
Select item 2919492	NM_012213.3(MLYCD):c.858G>A (p.Ala286=)	LOC126862422, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2916180	NM_012213.3(MLYCD):c.399G>C (p.Leu133=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2916177	NM_012213.3(MLYCD):c.498C>T (p.Ala166=)	LOC130059555, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2911535	NM_012213.3(MLYCD):c.948+19G>A	LOC126862422, MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2910831	NM_012213.3(MLYCD):c.799-19C>A	LOC126862422, MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2909820	NM_012213.3(MLYCD):c.390C>T (p.Arg130=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2907868	NM_012213.3(MLYCD):c.573C>T (p.Ser191=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2905246	NM_012213.3(MLYCD):c.108G>A (p.Leu36=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2904691	NM_012213.3(MLYCD):c.129G>T (p.Leu43=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2903967	NM_012213.3(MLYCD):c.1428C>T (p.Ala476=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2902920	NM_012213.3(MLYCD):c.949-9G>C	MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2902919	NM_012213.3(MLYCD):c.798+9G>C	MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2902432	NM_012213.3(MLYCD):c.72G>A (p.Gly24=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2902179	NM_012213.3(MLYCD):c.837G>A (p.Glu279=)	LOC126862422, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2901643	NM_012213.3(MLYCD):c.1216C>T (p.Leu406=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2900495	NM_012213.3(MLYCD):c.1161G>A (p.Ser387=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2900392	NM_012213.3(MLYCD):c.460C>T (p.Leu154=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2900131	NM_012213.3(MLYCD):c.1401C>T (p.Ser467=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2899109	NM_012213.3(MLYCD):c.684G>A (p.Lys228=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2896113	NM_012213.3(MLYCD):c.1260C>T (p.Ala420=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2895405	NM_012213.3(MLYCD):c.744G>A (p.Glu248=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2893401	NM_012213.3(MLYCD):c.663A>G (p.Val221=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2893400	NM_012213.3(MLYCD):c.1479C>G (p.Leu493=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2891726	NM_012213.3(MLYCD):c.642-9C>T	MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2890932	NM_012213.3(MLYCD):c.1260C>A (p.Ala420=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2890013	NM_012213.3(MLYCD):c.22_34del (p.Leu8fs)	LOC130059554, MLYCD (L8fs)	Deletion (frameshift variant)	Deficiency of malonyl-CoA decarboxylase	GPathogenic
Select item 2888682	NM_012213.3(MLYCD):c.949-16C>T	MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2888559	NM_012213.3(MLYCD):c.124G>T (p.Glu42Ter)	LOC130059554, MLYCD (E42*)	Single nucleotide variant (nonsense)	Deficiency of malonyl-CoA decarboxylase	GPathogenic
Select item 2888509	NM_012213.3(MLYCD):c.519G>A (p.Pro173=)	LOC130059555, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2888170	NM_012213.3(MLYCD):c.529-10T>C	MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2887157	NM_012213.3(MLYCD):c.753C>T (p.Val251=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2883476	NM_012213.3(MLYCD):c.1245G>A (p.Ala415=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GBenign
Select item 2883374	NM_012213.3(MLYCD):c.949-17C>T	MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2883149	NM_012213.3(MLYCD):c.641+7A>G	MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2882163	NM_012213.3(MLYCD):c.721del (p.Ser241fs)	MLYCD (S241fs)	Deletion (frameshift variant)	Deficiency of malonyl-CoA decarboxylase	GPathogenic
Select item 2881341	NM_012213.3(MLYCD):c.1270C>T (p.Leu424=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2881029	NM_012213.3(MLYCD):c.949-19C>T	MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2880282	NM_012213.3(MLYCD):c.642-20C>G	MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2880052	NM_012213.3(MLYCD):c.525C>G (p.Val175=)	LOC130059555, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2880001	NM_012213.3(MLYCD):c.1047T>G (p.His349Gln)	MLYCD (H349Q)	Single nucleotide variant (missense variant)	Deficiency of malonyl-CoA decarboxylase	GUncertain significance
Select item 2879501	NM_012213.3(MLYCD):c.529-20A>T	MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2879290	NM_012213.3(MLYCD):c.1098C>A (p.Ile366=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2878550	NM_012213.3(MLYCD):c.948+11C>G	LOC126862422, MLYCD	Single nucleotide variant (intron variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2877477	NM_012213.3(MLYCD):c.30C>T (p.Ala10=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2877353	NM_012213.3(MLYCD):c.1221T>C (p.Tyr407=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2876628	NM_012213.3(MLYCD):c.589C>T (p.Leu197=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2875069	NM_012213.3(MLYCD):c.141G>C (p.Ala47=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2872639	NM_012213.3(MLYCD):c.875del (p.Ser292fs)	LOC126862422, MLYCD (S292fs)	Deletion (frameshift variant)	Deficiency of malonyl-CoA decarboxylase	GPathogenic
Select item 2872405	NM_012213.3(MLYCD):c.102C>A (p.Gly34=)	LOC130059554, MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign
Select item 2872180	NM_012213.3(MLYCD):c.336G>A (p.Leu112=)	MLYCD	Single nucleotide variant (synonymous variant)	Deficiency of malonyl-CoA decarboxylase	GLikely benign

<< First< Prev

Page of 6