ClinVar for MedGen (Select 336373) - ClinVar - NCBI

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

Result Filters

Links from MedGen

Items: 1 to 100 of 187

<< First< Prev

Page of 2

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26273861.	NM_018368.4(LMBRD1):c.1538G>A (p.Cys513Tyr) GRCh37: Chr6:70386135 GRCh38: Chr6:69676243	LMBRD1	C440Y, C513Y	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance	criteria provided, single submitter
Select item 25721682.	NM_018368.4(LMBRD1):c.562+4_562+7del GRCh37: Chr6:70451674-70451677 GRCh38: Chr6:69741782-69741785	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Pathogenic (Apr 25, 2023)	criteria provided, single submitter
Select item 24416413.	NM_018368.4(LMBRD1):c.323T>C (p.Ile108Thr) GRCh37: Chr6:70462233 GRCh38: Chr6:69752341	LMBRD1	I108T, I35T	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 24334654.	NM_018368.4(LMBRD1):c.78G>C (p.Leu26Phe) GRCh37: Chr6:70500356 GRCh38: Chr6:69790464	LMBRD1	L26F	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Dec 13, 2022)	criteria provided, single submitter
Select item 24264665.	NC_000006.11:g.(?_70386050)_(70490466_?)dup GRCh37: Chr6:70386050-70490466	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 24264656.	NC_000006.11:g.(?_70490366)_(70506773_?)dup GRCh37: Chr6:70490366-70506773	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Sep 4, 2022)	criteria provided, single submitter
Select item 24214077.	NM_018368.4(LMBRD1):c.700C>T (p.Arg234Cys) GRCh37: Chr6:70428910 GRCh38: Chr6:69719018	LMBRD1	R161C, R234C	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Oct 13, 2022)	criteria provided, single submitter
Select item 24208668.	NM_018368.4(LMBRD1):c.641A>G (p.Tyr214Cys) GRCh37: Chr6:70428969 GRCh38: Chr6:69719077	LMBRD1	Y141C, Y214C	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 24188819.	NM_018368.4(LMBRD1):c.151A>G (p.Ile51Val) GRCh37: Chr6:70500283 GRCh38: Chr6:69790391	LMBRD1	I51V	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 219418610.	NM_018368.4(LMBRD1):c.473+10G>C GRCh37: Chr6:70459223 GRCh38: Chr6:69749331	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 217371811.	NM_018368.4(LMBRD1):c.23C>T (p.Ser8Leu) GRCh37: Chr6:70506751 GRCh38: Chr6:69796859	LMBRD1	S8L	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (May 23, 2022)	criteria provided, single submitter
Select item 216345912.	NM_018368.4(LMBRD1):c.192A>G (p.Leu64=) GRCh37: Chr6:70500242 GRCh38: Chr6:69790350	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Jul 26, 2022)	criteria provided, single submitter
Select item 215919213.	NM_018368.4(LMBRD1):c.37A>G (p.Ile13Val) GRCh37: Chr6:70506737 GRCh38: Chr6:69796845	LMBRD1	I13V	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Feb 6, 2022)	criteria provided, single submitter
Select item 215838514.	NM_018368.4(LMBRD1):c.800G>A (p.Arg267His) GRCh37: Chr6:70423652 GRCh38: Chr6:69713760	LMBRD1	R267H, R194H	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (May 20, 2022)	criteria provided, single submitter
Select item 215833815.	NM_018368.4(LMBRD1):c.25G>A (p.Ala9Thr) GRCh37: Chr6:70506749 GRCh38: Chr6:69796857	LMBRD1	A9T	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Sep 17, 2022)	criteria provided, single submitter
Select item 215705716.	NM_018368.4(LMBRD1):c.1436G>A (p.Arg479Gln) GRCh37: Chr6:70386415 GRCh38: Chr6:69676523	LMBRD1	R406Q, R479Q	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Oct 8, 2022)	criteria provided, single submitter
Select item 214978617.	NM_018368.4(LMBRD1):c.1370A>G (p.Asn457Ser) GRCh37: Chr6:70407502 GRCh38: Chr6:69697610	LMBRD1	N384S, N457S	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 214624118.	NM_018368.4(LMBRD1):c.577T>C (p.Leu193=) GRCh37: Chr6:70447893 GRCh38: Chr6:69738001	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (May 20, 2022)	criteria provided, single submitter
Select item 214431719.	NM_018368.4(LMBRD1):c.5C>G (p.Ala2Gly) GRCh37: Chr6:70506769 GRCh38: Chr6:69796877	LMBRD1	A2G	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Jun 5, 2022)	criteria provided, single submitter
Select item 211965920.	NM_018368.4(LMBRD1):c.686G>A (p.Ser229Asn) GRCh37: Chr6:70428924 GRCh38: Chr6:69719032	LMBRD1	S229N, S156N	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Apr 3, 2022)	criteria provided, single submitter
Select item 210799021.	NM_018368.4(LMBRD1):c.1083+15A>C GRCh37: Chr6:70411320 GRCh38: Chr6:69701428	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Sep 17, 2022)	criteria provided, single submitter
Select item 210687722.	NM_018368.4(LMBRD1):c.980+3A>G GRCh37: Chr6:70411778 GRCh38: Chr6:69701886	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Sep 28, 2022)	criteria provided, single submitter
Select item 209987423.	NM_018368.4(LMBRD1):c.1317A>T (p.Gly439=) GRCh37: Chr6:70408956 GRCh38: Chr6:69699064	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Feb 20, 2022)	criteria provided, single submitter
Select item 209022324.	NM_018368.4(LMBRD1):c.916-7C>T GRCh37: Chr6:70411852 GRCh38: Chr6:69701960	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 208703425.	NM_018368.4(LMBRD1):c.40G>A (p.Gly14Ser) GRCh37: Chr6:70506734 GRCh38: Chr6:69796842	LMBRD1	G14S	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 208262226.	NM_018368.4(LMBRD1):c.55G>T (p.Gly19Cys) GRCh37: Chr6:70506719 GRCh38: Chr6:69796827	LMBRD1	G19C	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Jan 14, 2022)	criteria provided, single submitter
Select item 208242227.	NM_018368.4(LMBRD1):c.11C>T (p.Ser4Phe) GRCh37: Chr6:70506763 GRCh38: Chr6:69796871	LMBRD1	S4F	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Jan 15, 2022)	criteria provided, single submitter
Select item 208117928.	NM_018368.4(LMBRD1):c.272G>C (p.Arg91Thr) GRCh37: Chr6:70490421 GRCh38: Chr6:69780529	LMBRD1	R18T, R91T	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Sep 27, 2022)	criteria provided, single submitter
Select item 207447429.	NM_018368.4(LMBRD1):c.562+18dup GRCh37: Chr6:70451662-70451663 GRCh38: Chr6:69741770-69741771	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Benign (Dec 22, 2021)	criteria provided, single submitter
Select item 207397230.	NM_018368.4(LMBRD1):c.500A>G (p.Asn167Ser) GRCh37: Chr6:70451743 GRCh38: Chr6:69741851	LMBRD1	N167S, N94S	Inborn genetic diseases, Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Apr 26, 2023)	criteria provided, multiple submitters, no conflicts
Select item 206892531.	NM_018368.4(LMBRD1):c.1286A>G (p.Tyr429Cys) GRCh37: Chr6:70408987 GRCh38: Chr6:69699095	LMBRD1	Y429C, Y356C	Methylmalonic aciduria and homocystinuria type cblF, Inborn genetic diseases	Uncertain significance (Apr 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 205464232.	NM_018368.4(LMBRD1):c.614T>C (p.Met205Thr) GRCh37: Chr6:70447856 GRCh38: Chr6:69737964	LMBRD1	M205T, M132T	Methylmalonic aciduria and homocystinuria type cblF, Inborn genetic diseases	Uncertain significance (Apr 7, 2023)	criteria provided, multiple submitters, no conflicts
Select item 203793333.	NM_018368.4(LMBRD1):c.1109T>C (p.Ile370Thr) GRCh37: Chr6:70410736 GRCh38: Chr6:69700844	LMBRD1	I297T, I370T	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 202863934.	NM_018368.4(LMBRD1):c.1434C>G (p.Thr478=) GRCh37: Chr6:70386417 GRCh38: Chr6:69676525	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Sep 2, 2022)	criteria provided, single submitter
Select item 202499035.	NM_018368.4(LMBRD1):c.636+19A>C GRCh37: Chr6:70447815 GRCh38: Chr6:69737923	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Aug 29, 2022)	criteria provided, single submitter
Select item 200360136.	NM_018368.4(LMBRD1):c.953T>C (p.Leu318Pro) GRCh37: Chr6:70411808 GRCh38: Chr6:69701916	LMBRD1	L245P, L318P	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 198819137.	NM_018368.4(LMBRD1):c.403A>C (p.Thr135Pro) GRCh37: Chr6:70462153 GRCh38: Chr6:69752261	LMBRD1	T62P, T135P	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Feb 23, 2022)	criteria provided, single submitter
Select item 198716138.	NM_018368.4(LMBRD1):c.695A>G (p.Tyr232Cys) GRCh37: Chr6:70428915 GRCh38: Chr6:69719023	LMBRD1	Y232C, Y159C	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Jun 8, 2022)	criteria provided, single submitter
Select item 198468539.	NM_018368.4(LMBRD1):c.773G>T (p.Gly258Val) GRCh37: Chr6:70423679 GRCh38: Chr6:69713787	LMBRD1	G258V, G185V	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Dec 17, 2021)	criteria provided, single submitter
Select item 197756140.	NM_018368.4(LMBRD1):c.776G>A (p.Arg259Gln) GRCh37: Chr6:70423676 GRCh38: Chr6:69713784	LMBRD1	R186Q, R259Q	Inborn genetic diseases, Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Aug 4, 2023)	criteria provided, multiple submitters, no conflicts
Select item 197623941.	NM_018368.4(LMBRD1):c.308-17A>G GRCh37: Chr6:70462265 GRCh38: Chr6:69752373	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (May 25, 2022)	criteria provided, single submitter
Select item 197326442.	NM_018368.4(LMBRD1):c.1435C>T (p.Arg479Trp) GRCh37: Chr6:70386416 GRCh38: Chr6:69676524	LMBRD1	R406W, R479W	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Oct 18, 2022)	criteria provided, single submitter
Select item 196352143.	NC_000006.12:g.69780555del GRCh37: Chr6:70490446 GRCh38: Chr6:69780554	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 195945144.	NM_018368.4(LMBRD1):c.763-10T>C GRCh37: Chr6:70423699 GRCh38: Chr6:69713807	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Jan 7, 2022)	criteria provided, single submitter
Select item 191928645.	NM_018368.4(LMBRD1):c.1166G>A (p.Gly389Asp) GRCh37: Chr6:70410679 GRCh38: Chr6:69700787	LMBRD1	G389D, G316D	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 191695246.	NM_018368.4(LMBRD1):c.637-15T>C GRCh37: Chr6:70428988 GRCh38: Chr6:69719096	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Aug 18, 2022)	criteria provided, single submitter
Select item 191380447.	NM_018368.4(LMBRD1):c.125G>A (p.Ser42Asn) GRCh37: Chr6:70500309 GRCh38: Chr6:69790417	LMBRD1	S42N	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (May 14, 2022)	criteria provided, single submitter
Select item 168731948.	NM_018368.4(LMBRD1):c.1094_1095del (p.Leu365fs) GRCh37: Chr6:70410750-70410751 GRCh38: Chr6:69700858-69700859	LMBRD1	L292fs, L365fs	Methylmalonic aciduria and homocystinuria type cblF	Pathogenic (May 22, 2022)	criteria provided, single submitter
Select item 165870549.	NM_018368.4(LMBRD1):c.27G>T (p.Ala9=) GRCh37: Chr6:70506747 GRCh38: Chr6:69796855	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 164081350.	NM_018368.4(LMBRD1):c.39C>T (p.Ile13=) GRCh37: Chr6:70506735 GRCh38: Chr6:69796843	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 163396751.	NM_018368.4(LMBRD1):c.562+19A>T GRCh37: Chr6:70451662 GRCh38: Chr6:69741770	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Mar 21, 2021)	criteria provided, single submitter
Select item 163362152.	NM_018368.4(LMBRD1):c.1509+12T>C GRCh37: Chr6:70386330 GRCh38: Chr6:69676438	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Feb 15, 2021)	criteria provided, single submitter
Select item 162335853.	NM_018368.4(LMBRD1):c.1510-19G>A GRCh37: Chr6:70386182 GRCh38: Chr6:69676290	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Jun 4, 2022)	criteria provided, single submitter
Select item 161850554.	NM_018368.4(LMBRD1):c.1418-20T>A GRCh37: Chr6:70386453 GRCh38: Chr6:69676561	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Mar 5, 2021)	criteria provided, single submitter
Select item 161849855.	NM_018368.4(LMBRD1):c.1605C>G (p.Pro535=) GRCh37: Chr6:70386068 GRCh38: Chr6:69676176	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (May 9, 2021)	criteria provided, single submitter
Select item 160245856.	NM_018368.4(LMBRD1):c.474-20A>G GRCh37: Chr6:70451789 GRCh38: Chr6:69741897	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 159661057.	NM_018368.4(LMBRD1):c.60C>T (p.Leu20=) GRCh37: Chr6:70506714 GRCh38: Chr6:69796822	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Nov 8, 2021)	criteria provided, single submitter
Select item 159413558.	NM_018368.4(LMBRD1):c.1189-15C>G GRCh37: Chr6:70409099 GRCh38: Chr6:69699207	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 159244559.	NM_018368.4(LMBRD1):c.1189-19G>C GRCh37: Chr6:70409103 GRCh38: Chr6:69699211	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Dec 22, 2020)	criteria provided, single submitter
Select item 157517560.	NM_018368.4(LMBRD1):c.1418-16T>C GRCh37: Chr6:70386449 GRCh38: Chr6:69676557	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Dec 13, 2020)	criteria provided, single submitter
Select item 157403161.	NM_018368.4(LMBRD1):c.981-9T>A GRCh37: Chr6:70411446 GRCh38: Chr6:69701554	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Mar 10, 2022)	criteria provided, single submitter
Select item 156738662.	NM_018368.4(LMBRD1):c.563-11T>C GRCh37: Chr6:70447918 GRCh38: Chr6:69738026	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 154050063.	NM_018368.4(LMBRD1):c.1389A>G (p.Pro463=) GRCh37: Chr6:70407483 GRCh38: Chr6:69697591	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 153277464.	NM_018368.4(LMBRD1):c.357C>T (p.Val119=) GRCh37: Chr6:70462199 GRCh38: Chr6:69752307	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 151910865.	NM_018368.4(LMBRD1):c.662T>C (p.Leu221Ser) GRCh37: Chr6:70428948 GRCh38: Chr6:69719056	LMBRD1	L148S, L221S	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Sep 21, 2021)	criteria provided, single submitter
Select item 151796266.	NM_018368.4(LMBRD1):c.947C>T (p.Ala316Val) GRCh37: Chr6:70411814 GRCh38: Chr6:69701922	LMBRD1	A316V, A243V	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Mar 2, 2022)	criteria provided, single submitter
Select item 151279167.	NM_018368.4(LMBRD1):c.545A>G (p.Glu182Gly) GRCh37: Chr6:70451698 GRCh38: Chr6:69741806	LMBRD1	E109G, E182G	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Jun 20, 2022)	criteria provided, single submitter
Select item 150670068.	NM_018368.4(LMBRD1):c.1025T>C (p.Ile342Thr) GRCh37: Chr6:70411393 GRCh38: Chr6:69701501	LMBRD1	I269T, I342T	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 149568369.	NM_018368.4(LMBRD1):c.164C>T (p.Ala55Val) GRCh37: Chr6:70500270 GRCh38: Chr6:69790378	LMBRD1	A55V	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 149531970.	NM_018368.4(LMBRD1):c.1144A>G (p.Met382Val) GRCh37: Chr6:70410701 GRCh38: Chr6:69700809	LMBRD1	M309V, M382V	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 148761771.	NM_018368.4(LMBRD1):c.1613A>G (p.Tyr538Cys) GRCh37: Chr6:70386060 GRCh38: Chr6:69676168	LMBRD1	Y538C, Y465C	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 148670972.	NM_018368.4(LMBRD1):c.277A>G (p.Ile93Val) GRCh37: Chr6:70490416 GRCh38: Chr6:69780524	LMBRD1	I20V, I93V	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 147983473.	NM_018368.4(LMBRD1):c.1382C>G (p.Ser461Cys) GRCh37: Chr6:70407490 GRCh38: Chr6:69697598	LMBRD1	S461C, S388C	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 147822674.	NM_018368.4(LMBRD1):c.676G>T (p.Gly226Cys) GRCh37: Chr6:70428934 GRCh38: Chr6:69719042	LMBRD1	G153C, G226C	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 147164375.	NM_018368.4(LMBRD1):c.562+1G>A GRCh37: Chr6:70451680 GRCh38: Chr6:69741788	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 145910876.	NC_000006.11:g.(?_70459213)_(70462268_?)del GRCh37: Chr6:70459213-70462268	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Pathogenic (Aug 23, 2022)	criteria provided, single submitter
Select item 145662977.	NC_000006.11:g.(?_70386050)_(71012627_?)del GRCh37: Chr6:70386050-71012627	COL19A1, COL9A1, LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Pathogenic (Feb 24, 2022)	criteria provided, single submitter
Select item 145005878.	NM_018368.4(LMBRD1):c.1157G>A (p.Arg386Gln) GRCh37: Chr6:70410688 GRCh38: Chr6:69700796	LMBRD1	R313Q, R386Q	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Nov 19, 2021)	criteria provided, single submitter
Select item 144621779.	NM_018368.4(LMBRD1):c.166A>G (p.Ile56Val) GRCh37: Chr6:70500268 GRCh38: Chr6:69790376	LMBRD1	I56V	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Oct 29, 2021)	criteria provided, single submitter
Select item 144106080.	NM_018368.4(LMBRD1):c.1067T>C (p.Leu356Ser) GRCh37: Chr6:70411351 GRCh38: Chr6:69701459	LMBRD1	L283S, L356S	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Jul 31, 2021)	criteria provided, single submitter
Select item 143984881.	NM_018368.4(LMBRD1):c.416C>T (p.Thr139Met) GRCh37: Chr6:70459290 GRCh38: Chr6:69749398	LMBRD1	T139M, T66M	Methylmalonic aciduria and homocystinuria type cblF, Inborn genetic diseases	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 143824582.	NM_018368.4(LMBRD1):c.989A>C (p.Lys330Thr) GRCh37: Chr6:70411429 GRCh38: Chr6:69701537	LMBRD1	K257T, K330T	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 143744683.	NM_018368.4(LMBRD1):c.1136T>A (p.Phe379Tyr) GRCh37: Chr6:70410709 GRCh38: Chr6:69700817	LMBRD1	F306Y, F379Y	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 143435684.	NM_018368.4(LMBRD1):c.119G>A (p.Arg40Gln) GRCh37: Chr6:70500315 GRCh38: Chr6:69790423	LMBRD1	R40Q	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 142933185.	NM_018368.4(LMBRD1):c.1331T>C (p.Leu444Ser) GRCh37: Chr6:70408942 GRCh38: Chr6:69699050	LMBRD1	L444S, L371S	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Sep 15, 2021)	criteria provided, multiple submitters, no conflicts
Select item 140882486.	NM_018368.4(LMBRD1):c.101G>A (p.Arg34His) GRCh37: Chr6:70500333 GRCh38: Chr6:69790441	LMBRD1	R34H	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 140352187.	NM_018368.4(LMBRD1):c.1346T>C (p.Ile449Thr) GRCh37: Chr6:70407526 GRCh38: Chr6:69697634	LMBRD1	I449T, I376T	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 139375788.	NM_018368.4(LMBRD1):c.151A>T (p.Ile51Phe) GRCh37: Chr6:70500283 GRCh38: Chr6:69790391	LMBRD1	I51F	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 139277289.	NM_018368.4(LMBRD1):c.284A>T (p.Asp95Val) GRCh37: Chr6:70490409 GRCh38: Chr6:69780517	LMBRD1	D22V, D95V	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Aug 31, 2021)	criteria provided, single submitter
Select item 138912090.	NM_018368.4(LMBRD1):c.1343A>C (p.Asn448Thr) GRCh37: Chr6:70407529 GRCh38: Chr6:69697637	LMBRD1	N375T, N448T	Methylmalonic aciduria and homocystinuria type cblF, Inborn genetic diseases	Uncertain significance (Jul 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 138073991.	NM_018368.4(LMBRD1):c.1168A>G (p.Ile390Val) GRCh37: Chr6:70410677 GRCh38: Chr6:69700785	LMBRD1	I317V, I390V	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (May 16, 2022)	criteria provided, single submitter
Select item 137362092.	NM_018368.4(LMBRD1):c.940T>G (p.Leu314Val) GRCh37: Chr6:70411821 GRCh38: Chr6:69701929	LMBRD1	L314V, L241V	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Dec 2, 2021)	criteria provided, single submitter
Select item 137178693.	NM_018368.4(LMBRD1):c.399del (p.Lys133fs) GRCh37: Chr6:70462157 GRCh38: Chr6:69752265	LMBRD1	K60fs, K133fs	Methylmalonic aciduria and homocystinuria type cblF	Pathogenic/Likely pathogenic (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 137112194.	NM_018368.4(LMBRD1):c.704T>C (p.Leu235Ser) GRCh37: Chr6:70428906 GRCh38: Chr6:69719014	LMBRD1	L235S, L162S	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 136502595.	NM_018368.4(LMBRD1):c.727G>C (p.Glu243Gln) GRCh37: Chr6:70428883 GRCh38: Chr6:69718991	LMBRD1	E243Q, E170Q	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Oct 20, 2021)	criteria provided, single submitter
Select item 136500596.	NM_018368.4(LMBRD1):c.1556C>T (p.Ser519Leu) GRCh37: Chr6:70386117 GRCh38: Chr6:69676225	LMBRD1	S446L, S519L	Methylmalonic aciduria and homocystinuria type cblF, Inborn genetic diseases	Uncertain significance (Feb 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 136128897.	NM_018368.4(LMBRD1):c.1577A>G (p.Glu526Gly) GRCh37: Chr6:70386096 GRCh38: Chr6:69676204	LMBRD1	E526G, E453G	Inborn genetic diseases, Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Jun 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 136116898.	NM_018368.4(LMBRD1):c.649T>C (p.Ser217Pro) GRCh37: Chr6:70428961 GRCh38: Chr6:69719069	LMBRD1	S217P, S144P	Methylmalonic aciduria and homocystinuria type cblF	Uncertain significance (Oct 25, 2022)	criteria provided, single submitter
Select item 134611599.	NM_018368.4(LMBRD1):c.1189-1G>A GRCh37: Chr6:70409085 GRCh38: Chr6:69699193	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF	Likely pathogenic (Jul 14, 2021)	criteria provided, single submitter
Select item 1324667100.	NM_018368.4(LMBRD1):c.1338+2T>C GRCh37: Chr6:70408933 GRCh38: Chr6:69699041	LMBRD1		Methylmalonic aciduria and homocystinuria type cblF, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 30, 2022)	criteria provided, conflicting interpretations

<< First< Prev

Page of 2