ClinVar for MedGen (Select 344640) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26274411.	NM_002454.3(MTRR):c.781-2A>T GRCh37: Chr5:7883266 GRCh38: Chr5:7883153	MTRR		Methylcobalamin deficiency type cblE	Likely pathogenic	criteria provided, single submitter
Select item 24442982.	NM_002454.3(MTRR):c.320G>A (p.Gly107Glu) GRCh37: Chr5:7875407 GRCh38: Chr5:7875294	MTRR	G107E	Methylcobalamin deficiency type cblE	Uncertain significance (Feb 23, 2023)	criteria provided, single submitter
Select item 24415903.	NM_002454.3(MTRR):c.1676+2T>C GRCh37: Chr5:7895967 GRCh38: Chr5:7895854	MTRR		Methylcobalamin deficiency type cblE	Likely pathogenic (Mar 24, 2022)	criteria provided, single submitter
Select item 24338314.	NM_002454.3(MTRR):c.362G>A (p.Arg121Gln) GRCh37: Chr5:7875449 GRCh38: Chr5:7875336	MTRR	R121Q	Methylcobalamin deficiency type cblE	Uncertain significance (Jul 26, 2021)	criteria provided, single submitter
Select item 24264265.	NM_002454.3(MTRR):c.1575A>T (p.Arg525=) GRCh37: Chr5:7895864 GRCh38: Chr5:7895751	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Feb 6, 2022)	criteria provided, single submitter
Select item 24244516.	NC_000005.9:g.(?_7875361)_(7875498_?)del GRCh37: Chr5:7875361-7875498	MTRR		Methylcobalamin deficiency type cblE	Pathogenic (Jun 26, 2022)	criteria provided, single submitter
Select item 24244507.	NC_000005.9:g.(?_7870908)_(7871056_?)del GRCh37: Chr5:7870908-7871056	MTRR		Methylcobalamin deficiency type cblE	Pathogenic (Sep 15, 2022)	criteria provided, single submitter
Select item 24211838.	NM_002454.3(MTRR):c.850C>T (p.Leu284Phe) GRCh37: Chr5:7883337 GRCh38: Chr5:7883224	MTRR	L284F	Methylcobalamin deficiency type cblE	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 24171099.	NM_002454.3(MTRR):c.1769+15C>G GRCh37: Chr5:7897084 GRCh38: Chr5:7896971	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 241562910.	NM_002454.3(MTRR):c.1779C>G (p.Leu593=) GRCh37: Chr5:7897187 GRCh38: Chr5:7897074	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Apr 21, 2022)	criteria provided, single submitter
Select item 220066411.	NM_002454.3(MTRR):c.1558-13T>C GRCh37: Chr5:7895834 GRCh38: Chr5:7895721	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 220027312.	NM_002454.3(MTRR):c.361C>T (p.Arg121Trp) GRCh37: Chr5:7875448 GRCh38: Chr5:7875335	MTRR	R121W	Inborn genetic diseases, Methylcobalamin deficiency type cblE	Uncertain significance (Jul 19, 2023)	criteria provided, multiple submitters, no conflicts
Select item 219979313.	NM_002454.3(MTRR):c.1515A>G (p.Ile505Met) GRCh37: Chr5:7892984 GRCh38: Chr5:7892871	MTRR	I505M	Methylcobalamin deficiency type cblE	Uncertain significance (Apr 15, 2022)	criteria provided, single submitter
Select item 219868214.	NM_002454.3(MTRR):c.1952+13C>T GRCh37: Chr5:7897373 GRCh38: Chr5:7897260	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Aug 26, 2022)	criteria provided, single submitter
Select item 219663715.	NM_002454.3(MTRR):c.1499T>G (p.Val500Gly) GRCh37: Chr5:7892968 GRCh38: Chr5:7892855	MTRR	V500G	Methylcobalamin deficiency type cblE	Uncertain significance (Jan 8, 2022)	criteria provided, single submitter
Select item 219278416.	NM_002454.3(MTRR):c.538G>A (p.Val180Met) GRCh37: Chr5:7878193 GRCh38: Chr5:7878080	MTRR	V180M	Methylcobalamin deficiency type cblE	Uncertain significance (Sep 17, 2021)	criteria provided, single submitter
Select item 219140517.	NM_002454.3(MTRR):c.903+11A>G GRCh37: Chr5:7883401 GRCh38: Chr5:7883288	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Aug 3, 2022)	criteria provided, single submitter
Select item 218718018.	NM_002454.3(MTRR):c.997C>T (p.Leu333Phe) GRCh37: Chr5:7885907 GRCh38: Chr5:7885794	MTRR	L333F	Methylcobalamin deficiency type cblE	Uncertain significance (Jul 16, 2022)	criteria provided, single submitter
Select item 218562619.	NM_002454.3(MTRR):c.1493C>T (p.Ala498Val) GRCh37: Chr5:7892962 GRCh38: Chr5:7892849	MTRR	A498V	Methylcobalamin deficiency type cblE	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 218450820.	NM_002454.3(MTRR):c.1438A>G (p.Thr480Ala) GRCh37: Chr5:7892907 GRCh38: Chr5:7892794	MTRR	T480A	Methylcobalamin deficiency type cblE	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 218448021.	NM_002454.3(MTRR):c.1769+6G>A GRCh37: Chr5:7897075 GRCh38: Chr5:7896962	MTRR		Methylcobalamin deficiency type cblE	Uncertain significance (Aug 26, 2021)	criteria provided, single submitter
Select item 218249322.	NM_002454.3(MTRR):c.1047_1049del (p.Lys352del) GRCh37: Chr5:7885957-7885959 GRCh38: Chr5:7885844-7885846	MTRR	K352del	Methylcobalamin deficiency type cblE	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 218125123.	NM_002454.3(MTRR):c.83T>C (p.Val28Ala) GRCh37: Chr5:7870990 GRCh38: Chr5:7870877	MTRR	V28A	Methylcobalamin deficiency type cblE	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 217825624.	NM_002454.3(MTRR):c.908C>T (p.Thr303Ile) GRCh37: Chr5:7885818 GRCh38: Chr5:7885705	MTRR	T303I	Methylcobalamin deficiency type cblE, Inborn genetic diseases	Uncertain significance (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 217822325.	NM_002454.3(MTRR):c.781-2A>C GRCh37: Chr5:7883266 GRCh38: Chr5:7883153	MTRR		Methylcobalamin deficiency type cblE	Likely pathogenic (Mar 12, 2022)	criteria provided, single submitter
Select item 217575126.	NM_002454.3(MTRR):c.1058G>A (p.Gly353Glu) GRCh37: Chr5:7886728 GRCh38: Chr5:7886615	MTRR	G353E	Methylcobalamin deficiency type cblE	Uncertain significance (Jul 30, 2022)	criteria provided, single submitter
Select item 217221227.	NM_002454.3(MTRR):c.1475G>A (p.Trp492Ter) GRCh37: Chr5:7892944 GRCh38: Chr5:7892831	MTRR	W492*	Methylcobalamin deficiency type cblE	Pathogenic (Sep 30, 2022)	criteria provided, single submitter
Select item 217193828.	NM_002454.3(MTRR):c.284-5T>G GRCh37: Chr5:7875366 GRCh38: Chr5:7875253	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 216876929.	NM_002454.3(MTRR):c.904-20T>C GRCh37: Chr5:7885794 GRCh38: Chr5:7885681	MTRR		Methylcobalamin deficiency type cblE	Benign (Nov 2, 2022)	criteria provided, single submitter
Select item 216776930.	NM_002454.3(MTRR):c.304A>C (p.Thr102Pro) GRCh37: Chr5:7875391 GRCh38: Chr5:7875278	MTRR	T102P	Methylcobalamin deficiency type cblE	Uncertain significance (Aug 20, 2021)	criteria provided, single submitter
Select item 216681231.	NM_002454.3(MTRR):c.1418_1419del (p.Val473fs) GRCh37: Chr5:7892885-7892886 GRCh38: Chr5:7892772-7892773	MTRR	V473fs	Methylcobalamin deficiency type cblE	Pathogenic (Oct 10, 2022)	criteria provided, single submitter
Select item 216503932.	NM_002454.3(MTRR):c.1676+15dup GRCh37: Chr5:7895973-7895974 GRCh38: Chr5:7895860-7895861	MTRR		Methylcobalamin deficiency type cblE	Benign (Jun 18, 2022)	criteria provided, single submitter
Select item 216353033.	NM_002454.3(MTRR):c.1370+9del GRCh37: Chr5:7891536 GRCh38: Chr5:7891423	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 216181234.	NM_002454.3(MTRR):c.496G>A (p.Ala166Thr) GRCh37: Chr5:7878151 GRCh38: Chr5:7878038	MTRR	A166T	Methylcobalamin deficiency type cblE	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 216027535.	NM_002454.3(MTRR):c.693G>A (p.Ser231=) GRCh37: Chr5:7878348 GRCh38: Chr5:7878235	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Jul 19, 2022)	criteria provided, single submitter
Select item 216008936.	NM_002454.3(MTRR):c.318T>C (p.Asn106=) GRCh37: Chr5:7875405 GRCh38: Chr5:7875292	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Mar 11, 2022)	criteria provided, single submitter
Select item 215832237.	NM_002454.3(MTRR):c.636G>C (p.Val212=) GRCh37: Chr5:7878291 GRCh38: Chr5:7878178	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 215544038.	NM_002454.3(MTRR):c.1552C>T (p.Pro518Ser) GRCh37: Chr5:7893021 GRCh38: Chr5:7892908	MTRR	P518S	Methylcobalamin deficiency type cblE	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 215425339.	NM_002454.3(MTRR):c.1520C>T (p.Ala507Val) GRCh37: Chr5:7892989 GRCh38: Chr5:7892876	MTRR	A507V	Methylcobalamin deficiency type cblE	Uncertain significance (Jan 6, 2022)	criteria provided, single submitter
Select item 215243840.	NM_002454.3(MTRR):c.1927G>C (p.Glu643Gln) GRCh37: Chr5:7897335 GRCh38: Chr5:7897222	MTRR	E643Q	Methylcobalamin deficiency type cblE	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 215099641.	NM_002454.3(MTRR):c.496G>T (p.Ala166Ser) GRCh37: Chr5:7878151 GRCh38: Chr5:7878038	MTRR	A166S	Methylcobalamin deficiency type cblE	Uncertain significance (Oct 14, 2021)	criteria provided, single submitter
Select item 215075342.	NM_002454.3(MTRR):c.652A>G (p.Asn218Asp) GRCh37: Chr5:7878307 GRCh38: Chr5:7878194	MTRR	N218D	Methylcobalamin deficiency type cblE	Uncertain significance (Jul 21, 2022)	criteria provided, single submitter
Select item 214809043.	NM_002454.3(MTRR):c.253T>G (p.Phe85Val) GRCh37: Chr5:7873609 GRCh38: Chr5:7873496	MTRR	F85V	Methylcobalamin deficiency type cblE	Uncertain significance (Mar 1, 2022)	criteria provided, single submitter
Select item 214788044.	NM_002454.3(MTRR):c.1958C>A (p.Ala653Glu) GRCh37: Chr5:7900032 GRCh38: Chr5:7899919	MTRR	A653E	Methylcobalamin deficiency type cblE	Uncertain significance (Sep 12, 2022)	criteria provided, single submitter
Select item 214716145.	NM_002454.3(MTRR):c.129+14C>G GRCh37: Chr5:7871050 GRCh38: Chr5:7870937	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Jan 1, 2022)	criteria provided, single submitter
Select item 214632646.	NM_002454.3(MTRR):c.1784A>G (p.His595Arg) GRCh37: Chr5:7897192 GRCh38: Chr5:7897079	MTRR	H595R	Methylcobalamin deficiency type cblE	Uncertain significance (Aug 27, 2021)	criteria provided, single submitter
Select item 214463147.	NM_002454.3(MTRR):c.1071C>T (p.Pro357=) GRCh37: Chr5:7886741 GRCh38: Chr5:7886628	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 214378848.	NM_002454.3(MTRR):c.1846G>A (p.Gly616Arg) GRCh37: Chr5:7897254 GRCh38: Chr5:7897141	MTRR	G616R	Methylcobalamin deficiency type cblE	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 214122049.	NM_002454.3(MTRR):c.1583A>G (p.Asn528Ser) GRCh37: Chr5:7895872 GRCh38: Chr5:7895759	MTRR	N528S	Methylcobalamin deficiency type cblE	Uncertain significance (Oct 24, 2022)	criteria provided, single submitter
Select item 214070150.	NM_002454.3(MTRR):c.654T>G (p.Asn218Lys) GRCh37: Chr5:7878309 GRCh38: Chr5:7878196	MTRR	N218K	Methylcobalamin deficiency type cblE	Uncertain significance (Jul 31, 2022)	criteria provided, single submitter
Select item 214021451.	NM_002454.3(MTRR):c.106C>T (p.His36Tyr) GRCh37: Chr5:7871013 GRCh38: Chr5:7870900	MTRR	H36Y	Methylcobalamin deficiency type cblE	Uncertain significance (May 7, 2022)	criteria provided, single submitter
Select item 213931852.	NM_002454.3(MTRR):c.1910_1911delinsAA (p.Ala637Glu) GRCh37: Chr5:7897318-7897319 GRCh38: Chr5:7897205-7897206	MTRR	A637E	Methylcobalamin deficiency type cblE	Uncertain significance (Jan 11, 2022)	criteria provided, single submitter
Select item 213488653.	NM_002454.3(MTRR):c.438C>T (p.Leu146=) GRCh37: Chr5:7878093 GRCh38: Chr5:7877980	MTRR		Methylcobalamin deficiency type cblE	Likely benign (May 6, 2022)	criteria provided, single submitter
Select item 212841754.	NM_002454.3(MTRR):c.1953del (p.Asp652fs) GRCh37: Chr5:7900027 GRCh38: Chr5:7899914	MTRR	D652fs	Methylcobalamin deficiency type cblE	Uncertain significance (Jun 7, 2022)	criteria provided, single submitter
Select item 212689655.	NM_002454.3(MTRR):c.1355_1361dup (p.Cys455fs) GRCh37: Chr5:7891510-7891511 GRCh38: Chr5:7891397-7891398	MTRR	C455fs	Methylcobalamin deficiency type cblE	Pathogenic (Apr 16, 2022)	criteria provided, single submitter
Select item 212583456.	NM_002454.3(MTRR):c.516T>G (p.Pro172=) GRCh37: Chr5:7878171 GRCh38: Chr5:7878058	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Apr 13, 2022)	criteria provided, single submitter
Select item 212454757.	NM_002454.3(MTRR):c.1674T>C (p.His558=) GRCh37: Chr5:7895963 GRCh38: Chr5:7895850	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 212230058.	NM_002454.3(MTRR):c.1676+7T>G GRCh37: Chr5:7895972 GRCh38: Chr5:7895859	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Apr 6, 2022)	criteria provided, single submitter
Select item 212176059.	NM_002454.3(MTRR):c.237A>G (p.Gln79=) GRCh37: Chr5:7873593 GRCh38: Chr5:7873480	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Oct 3, 2022)	criteria provided, single submitter
Select item 211796560.	NM_002454.3(MTRR):c.1581A>T (p.Thr527=) GRCh37: Chr5:7895870 GRCh38: Chr5:7895757	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Mar 27, 2022)	criteria provided, single submitter
Select item 211727061.	NM_002454.3(MTRR):c.781-8T>C GRCh37: Chr5:7883260 GRCh38: Chr5:7883147	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 211586662.	NM_002454.3(MTRR):c.2047C>T (p.Leu683=) GRCh37: Chr5:7900121 GRCh38: Chr5:7900008	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Mar 23, 2022)	criteria provided, single submitter
Select item 211509763.	NM_002454.3(MTRR):c.754del (p.Val252fs) GRCh37: Chr5:7878408 GRCh38: Chr5:7878295	MTRR	V252fs	Methylcobalamin deficiency type cblE	Pathogenic (Mar 20, 2022)	criteria provided, single submitter
Select item 211374764.	NM_002454.3(MTRR):c.1952+7C>T GRCh37: Chr5:7897367 GRCh38: Chr5:7897254	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 211283165.	NM_002454.3(MTRR):c.1631del (p.Gly544fs) GRCh37: Chr5:7895918 GRCh38: Chr5:7895805	MTRR	G544fs	Methylcobalamin deficiency type cblE	Pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 211132466.	NM_002454.3(MTRR):c.1596A>G (p.Leu532=) GRCh37: Chr5:7895885 GRCh38: Chr5:7895772	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Jun 10, 2022)	criteria provided, single submitter
Select item 211115867.	NM_002454.3(MTRR):c.1768A>G (p.Arg590Gly) GRCh37: Chr5:7897068 GRCh38: Chr5:7896955	MTRR	R590G	Methylcobalamin deficiency type cblE	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 210964568.	NM_002454.3(MTRR):c.829C>A (p.Pro277Thr) GRCh37: Chr5:7883316 GRCh38: Chr5:7883203	MTRR	P277T	Methylcobalamin deficiency type cblE	Uncertain significance (Mar 12, 2022)	criteria provided, single submitter
Select item 210820669.	NM_002454.3(MTRR):c.1643del (p.Gly548fs) GRCh37: Chr5:7895931 GRCh38: Chr5:7895818	MTRR	G548fs	Methylcobalamin deficiency type cblE	Pathogenic (Mar 10, 2022)	criteria provided, single submitter
Select item 210789770.	NM_002454.3(MTRR):c.1534A>C (p.Ser512Arg) GRCh37: Chr5:7893003 GRCh38: Chr5:7892890	MTRR	S512R	Methylcobalamin deficiency type cblE	Uncertain significance (Oct 31, 2022)	criteria provided, single submitter
Select item 210460571.	NM_002454.3(MTRR):c.1971C>T (p.Ala657=) GRCh37: Chr5:7900045 GRCh38: Chr5:7899932	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 210267772.	NM_002454.3(MTRR):c.1457A>G (p.Lys486Arg) GRCh37: Chr5:7892926 GRCh38: Chr5:7892813	MTRR	K486R	Methylcobalamin deficiency type cblE	Uncertain significance (Apr 19, 2022)	criteria provided, single submitter
Select item 210254273.	NM_002454.3(MTRR):c.102T>C (p.Asp34=) GRCh37: Chr5:7871009 GRCh38: Chr5:7870896	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 209948974.	NM_002454.3(MTRR):c.635T>C (p.Val212Ala) GRCh37: Chr5:7878290 GRCh38: Chr5:7878177	MTRR	V212A	Methylcobalamin deficiency type cblE	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 209929675.	NM_002454.3(MTRR):c.129+7G>A GRCh37: Chr5:7871043 GRCh38: Chr5:7870930	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Feb 28, 2022)	criteria provided, single submitter
Select item 209150776.	NM_002454.3(MTRR):c.414G>A (p.Val138=) GRCh37: Chr5:7878069 GRCh38: Chr5:7877956	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Feb 1, 2022)	criteria provided, single submitter
Select item 209118977.	NM_002454.3(MTRR):c.159T>C (p.Leu53=) GRCh37: Chr5:7873515 GRCh38: Chr5:7873402	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Jan 31, 2022)	criteria provided, single submitter
Select item 209109178.	NM_002454.3(MTRR):c.1373C>G (p.Ser458Ter) GRCh37: Chr5:7892842 GRCh38: Chr5:7892729	MTRR	S458*	Methylcobalamin deficiency type cblE	Pathogenic (Jan 29, 2022)	criteria provided, single submitter
Select item 208999479.	NM_002454.3(MTRR):c.1441dup (p.Thr481fs) GRCh37: Chr5:7892908-7892909 GRCh38: Chr5:7892795-7892796	MTRR	T481fs	Methylcobalamin deficiency type cblE	Pathogenic (Jan 26, 2022)	criteria provided, single submitter
Select item 208464180.	NM_002454.3(MTRR):c.1526A>G (p.His509Arg) GRCh37: Chr5:7892995 GRCh38: Chr5:7892882	MTRR	H509R	Methylcobalamin deficiency type cblE	Uncertain significance (Feb 28, 2022)	criteria provided, single submitter
Select item 208330881.	NM_002454.3(MTRR):c.401+12_401+13del GRCh37: Chr5:7875498-7875499 GRCh38: Chr5:7875385-7875386	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Jan 17, 2022)	criteria provided, single submitter
Select item 208330482.	NM_002454.3(MTRR):c.1804T>C (p.Leu602=) GRCh37: Chr5:7897212 GRCh38: Chr5:7897099	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Jan 15, 2022)	criteria provided, single submitter
Select item 207955083.	NM_002454.3(MTRR):c.525G>C (p.Ser175=) GRCh37: Chr5:7878180 GRCh38: Chr5:7878067	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Jan 12, 2022)	criteria provided, single submitter
Select item 207828784.	NM_002454.3(MTRR):c.290del (p.Gly97fs) GRCh37: Chr5:7875376 GRCh38: Chr5:7875263	MTRR	G97fs	Methylcobalamin deficiency type cblE	Pathogenic (Jan 11, 2022)	criteria provided, single submitter
Select item 207639385.	NM_002454.3(MTRR):c.1628T>A (p.Val543Glu) GRCh37: Chr5:7895917 GRCh38: Chr5:7895804	MTRR	V543E	Methylcobalamin deficiency type cblE	Uncertain significance (Sep 6, 2022)	criteria provided, single submitter
Select item 206876086.	NM_002454.3(MTRR):c.26C>G (p.Ala9Gly) GRCh37: Chr5:7870933 GRCh38: Chr5:7870820	MTRR	A9G	Methylcobalamin deficiency type cblE	Uncertain significance (May 19, 2022)	criteria provided, single submitter
Select item 206762887.	NM_002454.3(MTRR):c.393C>T (p.Asp131=) GRCh37: Chr5:7875480 GRCh38: Chr5:7875367	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Jun 11, 2022)	criteria provided, single submitter
Select item 206644588.	NM_002454.3(MTRR):c.1564A>G (p.Ile522Val) GRCh37: Chr5:7895853 GRCh38: Chr5:7895740	MTRR	I522V	Methylcobalamin deficiency type cblE, Inborn genetic diseases	Uncertain significance (Oct 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 206515289.	NM_002454.3(MTRR):c.1682A>G (p.Lys561Arg) GRCh37: Chr5:7896982 GRCh38: Chr5:7896869	MTRR	K561R	Methylcobalamin deficiency type cblE	Uncertain significance (Feb 1, 2022)	criteria provided, single submitter
Select item 206392190.	NM_002454.3(MTRR):c.2072G>A (p.Arg691His) GRCh37: Chr5:7900146 GRCh38: Chr5:7900033	MTRR	R691H	Methylcobalamin deficiency type cblE	Uncertain significance (Sep 1, 2022)	criteria provided, single submitter
Select item 206334291.	NM_002454.3(MTRR):c.1620C>T (p.Ile540=) GRCh37: Chr5:7895909 GRCh38: Chr5:7895796	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Feb 4, 2022)	criteria provided, single submitter
Select item 206043392.	NM_002454.3(MTRR):c.1415T>C (p.Ile472Thr) GRCh37: Chr5:7892884 GRCh38: Chr5:7892771	MTRR	I472T	Methylcobalamin deficiency type cblE	Uncertain significance (Jun 2, 2022)	criteria provided, single submitter
Select item 205786393.	NM_002454.3(MTRR):c.1771A>G (p.Lys591Glu) GRCh37: Chr5:7897179 GRCh38: Chr5:7897066	MTRR	K591E	Methylcobalamin deficiency type cblE	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 205690794.	NM_002454.3(MTRR):c.957C>G (p.Asn319Lys) GRCh37: Chr5:7885867 GRCh38: Chr5:7885754	MTRR	N319K	Methylcobalamin deficiency type cblE	Uncertain significance (Dec 24, 2021)	criteria provided, single submitter
Select item 205639795.	NM_002454.3(MTRR):c.652A>C (p.Asn218His) GRCh37: Chr5:7878307 GRCh38: Chr5:7878194	MTRR	N218H	Methylcobalamin deficiency type cblE	Uncertain significance (Jul 5, 2022)	criteria provided, single submitter
Select item 205619796.	NM_002454.3(MTRR):c.794T>G (p.Val265Gly) GRCh37: Chr5:7883281 GRCh38: Chr5:7883168	MTRR	V265G	Methylcobalamin deficiency type cblE	Uncertain significance (Aug 23, 2022)	criteria provided, single submitter
Select item 205533997.	NM_002454.3(MTRR):c.1029G>A (p.Leu343=) GRCh37: Chr5:7885939 GRCh38: Chr5:7885826	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 205170998.	NM_002454.3(MTRR):c.943G>A (p.Val315Met) GRCh37: Chr5:7885853 GRCh38: Chr5:7885740	MTRR	V315M	Methylcobalamin deficiency type cblE	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 205051799.	NM_002454.3(MTRR):c.108C>T (p.His36=) GRCh37: Chr5:7871015 GRCh38: Chr5:7870902	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Dec 20, 2021)	criteria provided, single submitter
Select item 2048977100.	NM_002454.3(MTRR):c.240A>G (p.Thr80=) GRCh37: Chr5:7873596 GRCh38: Chr5:7873483	MTRR		Methylcobalamin deficiency type cblE	Likely benign (Jul 16, 2022)	criteria provided, single submitter

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