ClinVar for MedGen (Select 336373) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023818	NM_018368.4(LMBRD1):c.579G>A (p.Leu193=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 3023747	NM_018368.4(LMBRD1):c.1189-13C>T	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 3023374	NM_018368.4(LMBRD1):c.562+15T>C	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 3023236	NM_018368.4(LMBRD1):c.687C>G (p.Ser229Arg)	LMBRD1 (S229R +1 more)	Single nucleotide variant (missense variant)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 3022473	NM_018368.4(LMBRD1):c.981-17T>C	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 3021822	NM_018368.4(LMBRD1):c.1509+15C>T	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 3017124	NM_018368.4(LMBRD1):c.1188+10T>A	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 3016240	NM_018368.4(LMBRD1):c.317_318del (p.Ser106fs)	LMBRD1 (S106fs +1 more)	Deletion (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblF	GPathogenic
Select item 3016236	NM_018368.4(LMBRD1):c.69+10G>T	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 3014232	NM_018368.4(LMBRD1):c.462T>G (p.Leu154=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 3011952	NM_018368.4(LMBRD1):c.21C>T (p.Ala7=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 3010849	NM_018368.4(LMBRD1):c.247-13C>A	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 3010730	NM_018368.4(LMBRD1):c.1116T>C (p.Ile372=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 3010436	NM_018368.4(LMBRD1):c.1251dup (p.Leu418fs)	LMBRD1 (L345fs +1 more)	Duplication (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblF	GPathogenic
Select item 3007512	NM_018368.4(LMBRD1):c.327G>A (p.Leu109=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 3003435	NM_018368.4(LMBRD1):c.775C>T (p.Arg259Ter)	LMBRD1 (R186* +1 more)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblF	GPathogenic
Select item 3002981	NM_018368.4(LMBRD1):c.1509+7G>A	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 3002505	NM_018368.4(LMBRD1):c.24G>C (p.Ser8=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 3002392	NM_018368.4(LMBRD1):c.373G>T (p.Glu125Ter)	LMBRD1 (E125* +1 more)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblF	GPathogenic
Select item 2998075	NM_018368.4(LMBRD1):c.1302A>G (p.Gln434=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2992385	NM_018368.4(LMBRD1):c.637-15T>A	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2988099	NM_018368.4(LMBRD1):c.174T>G (p.Leu58=)	LMBRD1	Single nucleotide variant (5 prime UTR variant +1 more)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2986617	NM_018368.4(LMBRD1):c.829C>T (p.Arg277Ter)	LMBRD1 (R204* +1 more)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblF	GPathogenic
Select item 2985659	NM_018368.4(LMBRD1):c.1418-14A>G	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2984665	NM_018368.4(LMBRD1):c.1510-11T>C	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2984643	NM_018368.4(LMBRD1):c.405+17T>A	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2983497	NM_018368.4(LMBRD1):c.1189-4C>G	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2981982	NM_018368.4(LMBRD1):c.171A>G (p.Ala57=)	LMBRD1	Single nucleotide variant (5 prime UTR variant +1 more)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2981005	NM_018368.4(LMBRD1):c.459G>T (p.Leu153=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2978678	NM_018368.4(LMBRD1):c.1284T>A (p.Ile428=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2978453	NM_018368.4(LMBRD1):c.378G>A (p.Lys126=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2976351	NM_018368.4(LMBRD1):c.639C>T (p.Ala213=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2974735	NM_018368.4(LMBRD1):c.763-2A>C	LMBRD1	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely pathogenic
Select item 2972271	NM_018368.4(LMBRD1):c.69+2T>G	LMBRD1	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely pathogenic
Select item 2971810	NM_018368.4(LMBRD1):c.901C>T (p.Leu301=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2968939	NM_018368.4(LMBRD1):c.762+15T>C	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2968653	NM_018368.4(LMBRD1):c.720C>T (p.Asp240=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2967996	NM_018368.4(LMBRD1):c.1339-18T>A	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2967946	NM_018368.4(LMBRD1):c.1084-5_1084-4dup	LMBRD1	Duplication (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GBenign
Select item 2963519	NM_018368.4(LMBRD1):c.1189-17C>T	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2961380	NM_018368.4(LMBRD1):c.1500C>T (p.Ala500=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2958096	NM_018368.4(LMBRD1):c.18G>T (p.Ala6=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2955968	NM_018368.4(LMBRD1):c.1083+16A>G	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2954699	NM_018368.4(LMBRD1):c.474-16A>G	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2919411	NM_018368.4(LMBRD1):c.420A>G (p.Ala140=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2916266	NM_018368.4(LMBRD1):c.1339-12T>G	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2914710	NM_018368.4(LMBRD1):c.1443C>A (p.Tyr481Ter)	LMBRD1 (Y408* +1 more)	Single nucleotide variant (nonsense)	Methylmalonic aciduria and homocystinuria type cblF	GPathogenic
Select item 2913538	NM_018368.4(LMBRD1):c.915+19A>G	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2911929	NM_018368.4(LMBRD1):c.563-13del	LMBRD1	Deletion (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GBenign
Select item 2911637	NM_018368.4(LMBRD1):c.762+12T>C	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2909900	NM_018368.4(LMBRD1):c.981-4_981-3dup	LMBRD1	Duplication (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2906408	NM_018368.4(LMBRD1):c.156T>G (p.Phe52Leu)	LMBRD1 (F52L)	Single nucleotide variant (5 prime UTR variant +1 more)	Methylmalonic aciduria and homocystinuria type cblF	GUncertain significance
Select item 2903337	NM_018368.4(LMBRD1):c.1084-3dup	LMBRD1	Duplication (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2902661	NM_018368.4(LMBRD1):c.70-20C>G	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2901466	NM_018368.4(LMBRD1):c.981-10T>C	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2897367	NM_018368.4(LMBRD1):c.246+16C>T	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2897154	NM_018368.4(LMBRD1):c.1509+13A>G	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2897017	NM_018368.4(LMBRD1):c.667C>T (p.Leu223=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2896786	NM_018368.4(LMBRD1):c.63dup (p.Leu22fs)	LMBRD1 (L22fs)	Duplication (frameshift variant)	Methylmalonic aciduria and homocystinuria type cblF	GPathogenic
Select item 2896510	NM_018368.4(LMBRD1):c.474-4G>A	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2896084	NM_018368.4(LMBRD1):c.1341T>G (p.Thr447=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2895390	NM_018368.4(LMBRD1):c.1083+12A>T	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2893670	NM_018368.4(LMBRD1):c.69+11C>T	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2893567	NM_018368.4(LMBRD1):c.1083+11_1083+14del	LMBRD1	Deletion (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2893414	NM_018368.4(LMBRD1):c.1614T>C (p.Tyr538=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2890744	NM_018368.4(LMBRD1):c.307+13C>T	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2889822	NM_018368.4(LMBRD1):c.1095T>G (p.Leu365=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2888911	NM_018368.4(LMBRD1):c.563-19A>G	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2887100	NM_018368.4(LMBRD1):c.538C>T (p.Leu180=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2886626	NM_018368.4(LMBRD1):c.516A>G (p.Thr172=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2883870	NM_018368.4(LMBRD1):c.486A>G (p.Pro162=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2883424	NM_018368.4(LMBRD1):c.562+1G>T	LMBRD1	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely pathogenic
Select item 2880443	NM_018368.4(LMBRD1):c.936C>T (p.Phe312=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2879105	NM_018368.4(LMBRD1):c.307+15G>A	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2878359	NM_018368.4(LMBRD1):c.57C>A (p.Gly19=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2874357	NM_018368.4(LMBRD1):c.1299C>G (p.Pro433=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2873535	NM_018368.4(LMBRD1):c.1008A>G (p.Gly336=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2870700	NM_018368.4(LMBRD1):c.562+18del	LMBRD1	Deletion (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GBenign
Select item 2867230	NM_018368.4(LMBRD1):c.1084-16C>T	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2863510	NM_018368.4(LMBRD1):c.393T>C (p.Thr131=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2861579	NM_018368.4(LMBRD1):c.486A>C (p.Pro162=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2860803	NM_018368.4(LMBRD1):c.1084-20A>G	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2857399	NM_018368.4(LMBRD1):c.915+16A>G	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2856941	NM_018368.4(LMBRD1):c.763-19T>G	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2855945	NM_018368.4(LMBRD1):c.636+13G>A	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2855896	NM_018368.4(LMBRD1):c.308-6C>T	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2855752	NM_018368.4(LMBRD1):c.562+10G>T	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2853542	NM_018368.4(LMBRD1):c.1473T>C (p.Ser491=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2852813	NM_018368.4(LMBRD1):c.1510-9A>C	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2850069	NM_018368.4(LMBRD1):c.844A>C (p.Arg282=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2850004	NM_018368.4(LMBRD1):c.1248A>T (p.Ile416=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2847001	NM_018368.4(LMBRD1):c.396T>C (p.Ser132=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2843860	NM_018368.4(LMBRD1):c.1572A>G (p.Val524=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2842994	NM_018368.4(LMBRD1):c.563-18G>A	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2842736	NM_018368.4(LMBRD1):c.308-5C>T	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2842013	NM_018368.4(LMBRD1):c.1524A>T (p.Gly508=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2841524	NM_018368.4(LMBRD1):c.75T>A (p.Ile25=)	LMBRD1	Single nucleotide variant (5 prime UTR variant +1 more)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2841188	NM_018368.4(LMBRD1):c.828A>G (p.Leu276=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2840110	NM_018368.4(LMBRD1):c.1189-12T>G	LMBRD1	Single nucleotide variant (intron variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign
Select item 2839479	NM_018368.4(LMBRD1):c.1470C>T (p.Phe490=)	LMBRD1	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria and homocystinuria type cblF	GLikely benign

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