ClinVar for MedGen (Select 766829) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25848591.	NM_005050.4(ABCD4):c.714C>G (p.Phe238Leu) GRCh37: Chr14:74761856 GRCh38: Chr14:74295153	ABCD4	F100L, F238L, F196L, F79L, F151L, F195L, S7C	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance	criteria provided, single submitter
Select item 24387722.	NM_005050.4(ABCD4):c.1324C>T (p.Arg442Trp) GRCh37: Chr14:74756997 GRCh38: Chr14:74290294	ABCD4	R179W, R283W, R287W, R304W, R338W, R355W, R399W, R400W, R442W	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 24195973.	NM_005050.4(ABCD4):c.342C>T (p.Asp114=) GRCh37: Chr14:74764716 GRCh38: Chr14:74298013	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 24155904.	NM_005050.4(ABCD4):c.400G>A (p.Val134Met) GRCh37: Chr14:74764658 GRCh38: Chr14:74297955	ABCD4	V134M, V47M, V91M	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Jul 8, 2022)	criteria provided, single submitter
Select item 24149265.	NM_005050.4(ABCD4):c.664T>C (p.Phe222Leu) GRCh37: Chr14:74762561 GRCh38: Chr14:74295858	ABCD4	F135L, F179L, F222L, F63L, F84L	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Jul 23, 2022)	criteria provided, single submitter
Select item 24141766.	NM_005050.4(ABCD4):c.810G>A (p.Leu270=) GRCh37: Chr14:74759861 GRCh38: Chr14:74293158	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Mar 9, 2022)	criteria provided, single submitter
Select item 22020127.	NM_005050.4(ABCD4):c.41C>T (p.Pro14Leu) GRCh37: Chr14:74766969 GRCh38: Chr14:74300266	ABCD4	P14L	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Jul 24, 2022)	criteria provided, single submitter
Select item 21989188.	NM_005050.4(ABCD4):c.1743C>G (p.Ser581Arg) GRCh37: Chr14:74753413 GRCh38: Chr14:74286710	ABCD4	S318R, S426R, S477R, S494R, S581R, S422R, S538R, S539R, S443R	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Jun 13, 2022)	criteria provided, single submitter
Select item 21896739.	NM_005050.4(ABCD4):c.1457-18G>A GRCh37: Chr14:74755486 GRCh38: Chr14:74288783	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 218387910.	NM_005050.4(ABCD4):c.1805G>C (p.Arg602Thr) GRCh37: Chr14:74753180 GRCh38: Chr14:74286477	ABCD4	R339T, R443T, R560T, R602T, R447T, R464T, R559T, R515T	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 218264711.	NM_005050.4(ABCD4):c.1333G>A (p.Val445Met) GRCh37: Chr14:74756816 GRCh38: Chr14:74290113	ABCD4	V358M, V402M, V445M, V286M, V290M, V307M, V341M, V403M, V182M	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Aug 5, 2022)	criteria provided, single submitter
Select item 217237712.	NM_005050.4(ABCD4):c.286-10C>G GRCh37: Chr14:74764782 GRCh38: Chr14:74298079	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Oct 9, 2022)	criteria provided, single submitter
Select item 216555813.	NM_005050.4(ABCD4):c.1328-10G>A GRCh37: Chr14:74756831 GRCh38: Chr14:74290128	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Jul 10, 2022)	criteria provided, single submitter
Select item 216259014.	NM_005050.4(ABCD4):c.384G>A (p.Ala128=) GRCh37: Chr14:74764674 GRCh38: Chr14:74297971	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Aug 8, 2022)	criteria provided, single submitter
Select item 216257915.	NM_005050.4(ABCD4):c.1520C>A (p.Ala507Glu) GRCh37: Chr14:74754949 GRCh38: Chr14:74288246	ABCD4	A420E, A465E, A348E, A403E, A507E, Q263K, A369E, A464E, A244E, A352E	not provided, Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Oct 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 216238816.	NM_005050.4(ABCD4):c.1456+9G>T GRCh37: Chr14:74756177 GRCh38: Chr14:74289474	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 216060317.	NM_005050.4(ABCD4):c.1060A>G (p.Met354Val) GRCh37: Chr14:74759048 GRCh38: Chr14:74292345	ABCD4	M216V, M250V, M354V, M199V, M91V, M267V, M311V, M195V, M312V	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Mar 26, 2022)	criteria provided, single submitter
Select item 215871418.	NM_005050.4(ABCD4):c.543-11C>G GRCh37: Chr14:74762693 GRCh38: Chr14:74295990	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Sep 6, 2022)	criteria provided, single submitter
Select item 215747419.	NM_005050.4(ABCD4):c.1528G>C (p.Glu510Gln) GRCh37: Chr14:74754941 GRCh38: Chr14:74288238	ABCD4	E247Q, E372Q, E510Q, E351Q, E355Q, E467Q, Q265H, E406Q, E423Q, E468Q	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 215529420.	NM_005050.4(ABCD4):c.1327+9C>A GRCh37: Chr14:74756985 GRCh38: Chr14:74290282	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Sep 28, 2022)	criteria provided, single submitter
Select item 215162621.	NM_005050.4(ABCD4):c.816C>T (p.Ile272=) GRCh37: Chr14:74759571 GRCh38: Chr14:74292868	ABCD4		not provided, Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Oct 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214578122.	NM_005050.4(ABCD4):c.1696G>A (p.Gly566Ser) GRCh37: Chr14:74753460 GRCh38: Chr14:74286757	ABCD4	G303S, G411S, G479S, G407S, G523S, G566S, G462S, G524S, G428S	Inborn genetic diseases, Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Nov 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 214317023.	NM_005050.4(ABCD4):c.861T>G (p.Val287=) GRCh37: Chr14:74759526 GRCh38: Chr14:74292823	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 214268124.	NM_005050.4(ABCD4):c.893A>G (p.Tyr298Cys) GRCh37: Chr14:74759494 GRCh38: Chr14:74292791	ABCD4	Y211C, Y298C, Y139C, Y35C, Y255C, Y256C, Y143C, Y160C, Y194C	Inborn genetic diseases, Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Mar 28, 2023)	criteria provided, multiple submitters, no conflicts
Select item 214157525.	NM_005050.4(ABCD4):c.373del (p.Arg125fs) GRCh37: Chr14:74764685 GRCh38: Chr14:74297982	ABCD4	R38fs, R125fs	Methylmalonic acidemia with homocystinuria, type cblJ	Pathogenic (May 12, 2022)	criteria provided, single submitter
Select item 213760526.	NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs) GRCh37: Chr14:74753488-74753489 GRCh38: Chr14:74286785-74286786	ABCD4	E556fs, E293fs, E469fs, E401fs, E418fs, E397fs, E452fs, E514fs	Methylmalonic acidemia with homocystinuria, type cblJ	Conflicting interpretations of pathogenicity (Oct 21, 2022)	criteria provided, conflicting interpretations
Select item 213376227.	NM_005050.4(ABCD4):c.158-14C>T GRCh37: Chr14:74766392 GRCh38: Chr14:74299689	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Aug 23, 2022)	criteria provided, single submitter
Select item 213319828.	NM_005050.4(ABCD4):c.39G>T (p.Arg13Ser) GRCh37: Chr14:74766971 GRCh38: Chr14:74300268	ABCD4	R13S	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (May 3, 2022)	criteria provided, single submitter
Select item 211632229.	NM_005050.4(ABCD4):c.1006G>A (p.Asp336Asn) GRCh37: Chr14:74759276 GRCh38: Chr14:74292573	ABCD4	D177N, D293N, D294N, D181N, D198N, D232N, D249N, D336N, D73N	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Jun 30, 2022)	criteria provided, single submitter
Select item 210615530.	NM_005050.4(ABCD4):c.286-7T>A GRCh37: Chr14:74764779 GRCh38: Chr14:74298076	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 209952031.	NM_005050.4(ABCD4):c.9C>T (p.Val3=) GRCh37: Chr14:74769607 GRCh38: Chr14:74302904	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Feb 19, 2022)	criteria provided, single submitter
Select item 209758832.	NM_005050.4(ABCD4):c.1328-18T>C GRCh37: Chr14:74756839 GRCh38: Chr14:74290136	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Mar 1, 2022)	criteria provided, single submitter
Select item 208607833.	NM_005050.4(ABCD4):c.379C>T (p.Arg127Cys) GRCh37: Chr14:74764679 GRCh38: Chr14:74297976	ABCD4	R84C, R127C, R40C	Inborn genetic diseases, Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Oct 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 208397134.	NM_005050.4(ABCD4):c.669-6G>A GRCh37: Chr14:74761907 GRCh38: Chr14:74295204	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Jul 30, 2022)	criteria provided, single submitter
Select item 207614135.	NM_005050.4(ABCD4):c.1356G>T (p.Gly452=) GRCh37: Chr14:74756793 GRCh38: Chr14:74290090	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Jul 17, 2022)	criteria provided, single submitter
Select item 207475936.	NM_005050.4(ABCD4):c.467A>T (p.Gln156Leu) GRCh37: Chr14:74763111 GRCh38: Chr14:74296408	ABCD4	Q156L, S20C, Q113L, Q69L	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Sep 26, 2022)	criteria provided, single submitter
Select item 207298437.	NM_005050.4(ABCD4):c.227T>C (p.Leu76Ser) GRCh37: Chr14:74766309 GRCh38: Chr14:74299606	ABCD4	L76S	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Apr 9, 2022)	criteria provided, single submitter
Select item 207096638.	NM_005050.4(ABCD4):c.543-17CT[3] GRCh37: Chr14:74762690-74762693 GRCh38: Chr14:74295987-74295990	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Jun 8, 2022)	criteria provided, single submitter
Select item 206840539.	NM_005050.4(ABCD4):c.1450G>A (p.Asp484Asn) GRCh37: Chr14:74756192 GRCh38: Chr14:74289489	ABCD4	D397N, D325N, D346N, D221N, D329N, D380N, D441N, D442N, D484N	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Jun 14, 2022)	criteria provided, single submitter
Select item 206641240.	NM_005050.4(ABCD4):c.1559+16G>A GRCh37: Chr14:74754894 GRCh38: Chr14:74288191	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 206242541.	NM_005050.4(ABCD4):c.1040T>C (p.Leu347Pro) GRCh37: Chr14:74759068 GRCh38: Chr14:74292365	ABCD4	L209P, L305P, L192P, L243P, L260P, L304P, L347P, L84P, L188P	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 206056642.	NM_005050.4(ABCD4):c.1028+19C>G GRCh37: Chr14:74759235 GRCh38: Chr14:74292532	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (May 26, 2022)	criteria provided, single submitter
Select item 204823343.	NM_005050.4(ABCD4):c.688C>T (p.Arg230Trp) GRCh37: Chr14:74761882 GRCh38: Chr14:74295179	ABCD4	R188W, R143W, R187W, R71W, R230W, R92W	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Jul 12, 2022)	criteria provided, single submitter
Select item 204638544.	NM_005050.4(ABCD4):c.996G>C (p.Thr332=) GRCh37: Chr14:74759286 GRCh38: Chr14:74292583	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 204636245.	NM_005050.4(ABCD4):c.1637-6C>G GRCh37: Chr14:74753525 GRCh38: Chr14:74286822	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 204224946.	NM_005050.4(ABCD4):c.543-17CT[4] GRCh37: Chr14:74762690-74762691 GRCh38: Chr14:74295987-74295988	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 204146147.	NM_005050.4(ABCD4):c.754A>G (p.Arg252Gly) GRCh37: Chr14:74759917 GRCh38: Chr14:74293214	ABCD4	R114G, R165G, R252G, R97G, R148G, R209G, R210G, R93G	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Jun 25, 2022)	criteria provided, single submitter
Select item 203844448.	NM_005050.4(ABCD4):c.1419+15G>A GRCh37: Chr14:74756715 GRCh38: Chr14:74290012	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (May 28, 2022)	criteria provided, single submitter
Select item 202281749.	NM_005050.4(ABCD4):c.814+13G>A GRCh37: Chr14:74759844 GRCh38: Chr14:74293141	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Aug 8, 2022)	criteria provided, single submitter
Select item 201736650.	NM_005050.4(ABCD4):c.1420-11dup GRCh37: Chr14:74756232-74756233 GRCh38: Chr14:74289529-74289530	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Benign (Jul 28, 2022)	criteria provided, single submitter
Select item 199770951.	NM_005050.4(ABCD4):c.1190C>G (p.Pro397Arg) GRCh37: Chr14:74757131 GRCh38: Chr14:74290428	ABCD4	P238R, P242R, P354R, P355R, P259R, P293R, P397R, P134R, P310R	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 199223152.	NM_005050.4(ABCD4):c.1265A>G (p.Asn422Ser) GRCh37: Chr14:74757056 GRCh38: Chr14:74290353	ABCD4	N159S, N284S, N335S, N380S, N422S, N318S, N263S, N267S, N379S	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Oct 17, 2022)	criteria provided, single submitter
Select item 198815653.	NM_005050.4(ABCD4):c.1357C>T (p.Pro453Ser) GRCh37: Chr14:74756792 GRCh38: Chr14:74290089	ABCD4	P190S, P315S, P349S, P410S, P294S, P298S, P411S, P366S, P453S	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (May 29, 2022)	criteria provided, single submitter
Select item 198720354.	NM_005050.4(ABCD4):c.38+16G>A GRCh37: Chr14:74769562 GRCh38: Chr14:74302859	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Aug 9, 2022)	criteria provided, single submitter
Select item 198599755.	NM_005050.4(ABCD4):c.469C>G (p.Leu157Val) GRCh37: Chr14:74763109 GRCh38: Chr14:74296406	ABCD4	S20R, L157V, L114V, L70V	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Apr 13, 2022)	criteria provided, single submitter
Select item 198528556.	NM_005050.4(ABCD4):c.1028+9G>T GRCh37: Chr14:74759245 GRCh38: Chr14:74292542	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Oct 5, 2022)	criteria provided, single submitter
Select item 197044457.	NM_005050.4(ABCD4):c.1188C>A (p.Ala396=) GRCh37: Chr14:74757133 GRCh38: Chr14:74290430	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 196603558.	NM_005050.4(ABCD4):c.1467T>A (p.Asp489Glu) GRCh37: Chr14:74755458 GRCh38: Chr14:74288755	ABCD4	D351E, D226E, D330E, D447E, D334E, D385E, D402E, D446E, D489E	Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Mar 19, 2022)	criteria provided, single submitter
Select item 196105059.	NM_005050.4(ABCD4):c.1715C>T (p.Thr572Met) GRCh37: Chr14:74753441 GRCh38: Chr14:74286738	ABCD4	T413M, T309M, T417M, T434M, T468M, T530M, T572M, T485M, T529M	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Sep 7, 2022)	criteria provided, single submitter
Select item 195540160.	NM_005050.4(ABCD4):c.537C>T (p.Phe179=) GRCh37: Chr14:74763041 GRCh38: Chr14:74296338	ABCD4	S43F	Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Jul 15, 2022)	criteria provided, single submitter
Select item 195395461.	NM_005050.4(ABCD4):c.1050G>A (p.Thr350=) GRCh37: Chr14:74759058 GRCh38: Chr14:74292355	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (May 21, 2022)	criteria provided, single submitter
Select item 194680962.	NM_005050.4(ABCD4):c.511C>T (p.Leu171Phe) GRCh37: Chr14:74763067 GRCh38: Chr14:74296364	ABCD4	L171F, L128F, L12F, L84F	Inborn genetic diseases, Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Feb 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 194672963.	NM_005050.4(ABCD4):c.619C>A (p.Pro207Thr) GRCh37: Chr14:74762606 GRCh38: Chr14:74295903	ABCD4	P69T, P207T, P120T, P48T, P164T	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Aug 22, 2022)	criteria provided, single submitter
Select item 194145564.	NM_005050.4(ABCD4):c.1213_1214dup (p.Asp406fs) GRCh37: Chr14:74757106-74757107 GRCh38: Chr14:74290403-74290404	ABCD4	D319fs, D251fs, D247fs, D268fs, D406fs, D143fs, D302fs, D364fs	Methylmalonic acidemia with homocystinuria, type cblJ	Pathogenic (May 21, 2022)	criteria provided, single submitter
Select item 193783365.	NM_005050.4(ABCD4):c.505T>C (p.Phe169Leu) GRCh37: Chr14:74763073 GRCh38: Chr14:74296370	ABCD4	F10L, F169L, F126L, F82L	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (May 12, 2022)	criteria provided, single submitter
Select item 193356966.	NM_005050.4(ABCD4):c.716A>G (p.Tyr239Cys) GRCh37: Chr14:74761854 GRCh38: Chr14:74295151	ABCD4	Y196C, T8A, Y239C, Y80C, Y101C, Y152C, Y197C	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 193154567.	NM_005050.4(ABCD4):c.936+20A>G GRCh37: Chr14:74759431 GRCh38: Chr14:74292728	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Mar 18, 2022)	criteria provided, single submitter
Select item 192592468.	NM_005050.4(ABCD4):c.739A>C (p.Met247Leu) GRCh37: Chr14:74759932 GRCh38: Chr14:74293229	ABCD4	M88L, M92L, M109L, M143L, M247L, M160L, M204L, M205L	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Jul 4, 2022)	criteria provided, single submitter
Select item 192463469.	NM_005050.4(ABCD4):c.419A>C (p.Asp140Ala) GRCh37: Chr14:74764639 GRCh38: Chr14:74297936	ABCD4	D140A, D97A, D53A, I4L	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Aug 31, 2022)	criteria provided, single submitter
Select item 192410670.	NM_005050.4(ABCD4):c.930C>T (p.Val310=) GRCh37: Chr14:74759457 GRCh38: Chr14:74292754	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Apr 11, 2022)	criteria provided, single submitter
Select item 192054571.	NM_005050.4(ABCD4):c.1034G>T (p.Gly345Val) GRCh37: Chr14:74759074 GRCh38: Chr14:74292371	ABCD4	G302V, G303V, G345V, G82V, G186V, G258V, G190V, G241V, G207V	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Mar 25, 2022)	criteria provided, single submitter
Select item 191076172.	NM_005050.4(ABCD4):c.131T>A (p.Leu44Gln) GRCh37: Chr14:74766879 GRCh38: Chr14:74300176	ABCD4	L44Q	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Aug 17, 2022)	criteria provided, single submitter
Select item 190392373.	NM_005050.4(ABCD4):c.979C>G (p.Leu327Val) GRCh37: Chr14:74759303 GRCh38: Chr14:74292600	ABCD4	L168V, L172V, L284V, L189V, L223V, L240V, L285V, L327V, L64V	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 189547574.	NM_005050.4(ABCD4):c.1605C>A (p.Ala535=) GRCh37: Chr14:74754544 GRCh38: Chr14:74287841	ABCD4	P291H	Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 172140975.	NM_005050.4(ABCD4):c.1009G>A (p.Val337Met) GRCh37: Chr14:74759273 GRCh38: Chr14:74292570	ABCD4	V178M, V182M, V199M, V233M, V250M, V294M, V295M, V337M, V74M	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Oct 10, 2022)	criteria provided, single submitter
Select item 172035576.	NM_005050.4(ABCD4):c.1588C>A (p.Gln530Lys) GRCh37: Chr14:74754561 GRCh38: Chr14:74287858	ABCD4	C285*, Q267K, Q371K, Q375K, Q392K, Q426K, Q443K, Q487K, Q488K, Q530K	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Oct 5, 2022)	criteria provided, single submitter
Select item 171200077.	NM_005050.4(ABCD4):c.675G>C (p.Lys225Asn) GRCh37: Chr14:74761895 GRCh38: Chr14:74295192	ABCD4	K138N, K182N, K183N, K225N, K66N, K87N	not provided, Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 165893978.	NM_005050.4(ABCD4):c.1401C>T (p.Asp467=) GRCh37: Chr14:74756748 GRCh38: Chr14:74290045	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Jun 20, 2022)	criteria provided, single submitter
Select item 165536179.	NM_005050.4(ABCD4):c.285+19T>C GRCh37: Chr14:74766232 GRCh38: Chr14:74299529	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (May 18, 2021)	criteria provided, single submitter
Select item 164114380.	NM_005050.4(ABCD4):c.1328-19G>A GRCh37: Chr14:74756840 GRCh38: Chr14:74290137	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Mar 26, 2021)	criteria provided, single submitter
Select item 163507381.	NM_005050.4(ABCD4):c.1028+9G>A GRCh37: Chr14:74759245 GRCh38: Chr14:74292542	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Nov 20, 2020)	criteria provided, single submitter
Select item 162162582.	NM_005050.4(ABCD4):c.1028+20C>A GRCh37: Chr14:74759234 GRCh38: Chr14:74292531	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Mar 26, 2021)	criteria provided, single submitter
Select item 160683883.	NM_005050.4(ABCD4):c.1637-15G>T GRCh37: Chr14:74753534 GRCh38: Chr14:74286831	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Jun 28, 2022)	criteria provided, single submitter
Select item 159879184.	NM_005050.4(ABCD4):c.1507-11G>C GRCh37: Chr14:74754973 GRCh38: Chr14:74288270	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Benign (Feb 22, 2022)	criteria provided, single submitter
Select item 159256485.	NM_005050.4(ABCD4):c.1365G>A (p.Gly455=) GRCh37: Chr14:74756784 GRCh38: Chr14:74290081	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Oct 17, 2022)	criteria provided, single submitter
Select item 158738086.	NM_005050.4(ABCD4):c.669-7C>T GRCh37: Chr14:74761908 GRCh38: Chr14:74295205	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 158433487.	NM_005050.4(ABCD4):c.1710G>T (p.Gly570=) GRCh37: Chr14:74753446 GRCh38: Chr14:74286743	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 158371188.	NM_005050.4(ABCD4):c.425+13A>G GRCh37: Chr14:74764620 GRCh38: Chr14:74297917	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Oct 21, 2022)	criteria provided, single submitter
Select item 156311789.	NM_005050.4(ABCD4):c.6G>A (p.Ala2=) GRCh37: Chr14:74769610 GRCh38: Chr14:74302907	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Feb 16, 2021)	criteria provided, single submitter
Select item 155667790.	NM_005050.4(ABCD4):c.1028+17C>T GRCh37: Chr14:74759237 GRCh38: Chr14:74292534	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Aug 16, 2022)	criteria provided, single submitter
Select item 155646691.	NM_005050.4(ABCD4):c.542+20C>G GRCh37: Chr14:74763016 GRCh38: Chr14:74296313	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 155499392.	NM_005050.4(ABCD4):c.1818A>G (p.Glu606=) GRCh37: Chr14:74753167 GRCh38: Chr14:74286464	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Apr 28, 2021)	criteria provided, single submitter
Select item 155030793.	NM_005050.4(ABCD4):c.426-11A>G GRCh37: Chr14:74763163 GRCh38: Chr14:74296460	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Likely benign (Jun 5, 2022)	criteria provided, single submitter
Select item 151624594.	NM_005050.4(ABCD4):c.500C>A (p.Ser167Tyr) GRCh37: Chr14:74763078 GRCh38: Chr14:74296375	ABCD4	S80Y, P31T, S8Y, S167Y	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 151361795.	NM_005050.4(ABCD4):c.719+6T>C GRCh37: Chr14:74761845 GRCh38: Chr14:74295142	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ, Inborn genetic diseases	Uncertain significance (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 149957196.	NM_005050.4(ABCD4):c.814+6C>T GRCh37: Chr14:74759851 GRCh38: Chr14:74293148	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Oct 20, 2021)	criteria provided, single submitter
Select item 149271697.	NM_005050.4(ABCD4):c.434G>T (p.Arg145Leu) GRCh37: Chr14:74763144 GRCh38: Chr14:74296441	ABCD4	A9S, R145L, R58L	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 148701798.	NM_005050.4(ABCD4):c.157G>A (p.Glu53Lys) GRCh37: Chr14:74766853 GRCh38: Chr14:74300150	ABCD4	E53K	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Aug 28, 2021)	criteria provided, single submitter
Select item 146978999.	NM_005050.4(ABCD4):c.644A>G (p.Gln215Arg) GRCh37: Chr14:74762581 GRCh38: Chr14:74295878	ABCD4	Q215R, Q128R, Q77R, Q56R	Methylmalonic acidemia with homocystinuria, type cblJ	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 1453520100.	NC_000014.8:g.(?_74766231)_(74769615_?)del GRCh37: Chr14:74766231-74769615	ABCD4		Methylmalonic acidemia with homocystinuria, type cblJ	Pathogenic (Aug 22, 2021)	criteria provided, single submitter

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