ClinVar for MedGen (Select 344422) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25063831.	NM_172250.3(MMAA):c.282_287del (p.Ile94_Gly96delinsMet) GRCh37: Chr4:146560573-146560578 GRCh38: Chr4:145639421-145639426	MMAA		Methylmalonic aciduria, cblA type	Uncertain significance (Mar 2, 2023)	no assertion criteria provided
Select item 24414432.	NM_172250.3(MMAA):c.188_189del (p.Arg63fs) GRCh37: Chr4:146560476-146560477 GRCh38: Chr4:145639324-145639325	MMAA	R63fs	Methylmalonic aciduria, cblA type	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 24337593.	NM_172250.3(MMAA):c.46C>A (p.Leu16Ile) GRCh37: Chr4:146560337 GRCh38: Chr4:145639185	MMAA	L16I	Methylmalonic aciduria, cblA type	Uncertain significance (Dec 14, 2021)	criteria provided, single submitter
Select item 24337584.	NM_172250.3(MMAA):c.542CTT[2] (p.Ser183del) GRCh37: Chr4:146563617-146563619 GRCh38: Chr4:145642465-145642467	MMAA	S183del	Methylmalonic aciduria, cblA type	Uncertain significance (Aug 11, 2022)	criteria provided, single submitter
Select item 24138175.	NM_172250.3(MMAA):c.541C>G (p.Pro181Ala) GRCh37: Chr4:146563616 GRCh38: Chr4:145642464	MMAA	P181A	Methylmalonic aciduria, cblA type	Uncertain significance (Jul 22, 2022)	criteria provided, single submitter
Select item 22035756.	NM_172250.3(MMAA):c.440-2A>G GRCh37: Chr4:146563513 GRCh38: Chr4:145642361	MMAA		Methylmalonic aciduria, cblA type	Likely pathogenic (Sep 23, 2022)	criteria provided, single submitter
Select item 22027357.	NM_172250.3(MMAA):c.457G>A (p.Gly153Ser) GRCh37: Chr4:146563532 GRCh38: Chr4:145642380	MMAA	G153S	Methylmalonic aciduria, cblA type	Uncertain significance (Jan 17, 2022)	criteria provided, single submitter
Select item 22005868.	NM_172250.3(MMAA):c.831G>A (p.Arg277=) GRCh37: Chr4:146575157 GRCh38: Chr4:145654005	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 21857339.	NM_172250.3(MMAA):c.918T>C (p.Tyr306=) GRCh37: Chr4:146575244 GRCh38: Chr4:145654092	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jan 11, 2022)	criteria provided, single submitter
Select item 217133810.	NM_172250.3(MMAA):c.509G>C (p.Arg170Thr) GRCh37: Chr4:146563584 GRCh38: Chr4:145642432	MMAA	R170T	Methylmalonic aciduria, cblA type	Uncertain significance (Feb 9, 2022)	criteria provided, single submitter
Select item 216446111.	NM_172250.3(MMAA):c.1083G>A (p.Lys361=) GRCh37: Chr4:146576412 GRCh38: Chr4:145655260	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Nov 1, 2022)	criteria provided, single submitter
Select item 216357112.	NM_172250.3(MMAA):c.761C>T (p.Ala254Val) GRCh37: Chr4:146572241 GRCh38: Chr4:145651089	MMAA	A254V	Methylmalonic aciduria, cblA type	Uncertain significance (May 28, 2022)	criteria provided, single submitter
Select item 216012713.	NM_172250.3(MMAA):c.185A>G (p.Lys62Arg) GRCh37: Chr4:146560476 GRCh38: Chr4:145639324	MMAA	K62R	Methylmalonic aciduria, cblA type	Uncertain significance (Jul 14, 2022)	criteria provided, single submitter
Select item 215727514.	NM_172250.3(MMAA):c.819+8T>C GRCh37: Chr4:146572307 GRCh38: Chr4:145651155	MMAA		Methylmalonic aciduria, cblA type	Likely benign (May 27, 2022)	criteria provided, single submitter
Select item 215438515.	NM_172250.3(MMAA):c.657C>T (p.Gly219=) GRCh37: Chr4:146567232 GRCh38: Chr4:145646080	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Oct 27, 2022)	criteria provided, single submitter
Select item 215002416.	NM_172250.3(MMAA):c.775A>C (p.Met259Leu) GRCh37: Chr4:146572255 GRCh38: Chr4:145651103	MMAA	M259L	Methylmalonic aciduria, cblA type	Likely benign (Sep 13, 2022)	criteria provided, single submitter
Select item 214181017.	NM_172250.3(MMAA):c.889G>A (p.Val297Met) GRCh37: Chr4:146575215 GRCh38: Chr4:145654063	MMAA	V297M	Methylmalonic aciduria, cblA type	Uncertain significance (Feb 7, 2021)	criteria provided, single submitter
Select item 214138618.	NM_172250.3(MMAA):c.1156C>T (p.Arg386Trp) GRCh37: Chr4:146576485 GRCh38: Chr4:145655333	MMAA	R386W	Methylmalonic aciduria, cblA type	Uncertain significance (Feb 19, 2022)	criteria provided, single submitter
Select item 213569419.	NM_172250.3(MMAA):c.970-5G>T GRCh37: Chr4:146576294 GRCh38: Chr4:145655142	MMAA		Methylmalonic aciduria, cblA type	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 212862920.	NM_172250.3(MMAA):c.284A>G (p.Gln95Arg) GRCh37: Chr4:146560575 GRCh38: Chr4:145639423	MMAA	Q95R	Methylmalonic aciduria, cblA type	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 212468921.	NM_172250.3(MMAA):c.951A>C (p.Ser317=) GRCh37: Chr4:146575277 GRCh38: Chr4:145654125	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Apr 24, 2022)	criteria provided, single submitter
Select item 211933622.	NM_172250.3(MMAA):c.729C>A (p.Thr243=) GRCh37: Chr4:146567304 GRCh38: Chr4:145646152	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Mar 29, 2022)	criteria provided, single submitter
Select item 211857123.	NM_172250.3(MMAA):c.439+9T>C GRCh37: Chr4:146560739 GRCh38: Chr4:145639587	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 210127524.	NM_172250.3(MMAA):c.1044A>G (p.Leu348=) GRCh37: Chr4:146576373 GRCh38: Chr4:145655221	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Mar 14, 2022)	criteria provided, single submitter
Select item 209486125.	NM_172250.3(MMAA):c.867T>G (p.Thr289=) GRCh37: Chr4:146575193 GRCh38: Chr4:145654041	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Feb 8, 2022)	criteria provided, single submitter
Select item 208680226.	NM_172250.3(MMAA):c.648T>C (p.Thr216=) GRCh37: Chr4:146567223 GRCh38: Chr4:145646071	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 206337327.	NM_172250.3(MMAA):c.1228T>C (p.Leu410=) GRCh37: Chr4:146576557 GRCh38: Chr4:145655405	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Dec 27, 2021)	criteria provided, single submitter
Select item 205728228.	NM_172250.3(MMAA):c.184_185del (p.Lys62fs) GRCh37: Chr4:146560474-146560475 GRCh38: Chr4:145639322-145639323	MMAA	K62fs	Methylmalonic aciduria, cblA type	Pathogenic (Jan 21, 2022)	criteria provided, single submitter
Select item 205605229.	NM_172250.3(MMAA):c.562+8T>C GRCh37: Chr4:146563645 GRCh38: Chr4:145642493	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Dec 23, 2021)	criteria provided, single submitter
Select item 204673830.	NM_172250.3(MMAA):c.501T>G (p.Leu167=) GRCh37: Chr4:146563576 GRCh38: Chr4:145642424	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jul 16, 2022)	criteria provided, single submitter
Select item 204422731.	NM_172250.3(MMAA):c.713_714del (p.Ile238fs) GRCh37: Chr4:146567287-146567288 GRCh38: Chr4:145646135-145646136	MMAA	I238fs	Methylmalonic aciduria, cblA type	Pathogenic (Jun 19, 2022)	criteria provided, single submitter
Select item 203288532.	NM_172250.3(MMAA):c.72C>T (p.Tyr24=) GRCh37: Chr4:146560363 GRCh38: Chr4:145639211	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 203038433.	NM_172250.3(MMAA):c.651A>G (p.Leu217=) GRCh37: Chr4:146567226 GRCh38: Chr4:145646074	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 202578934.	NM_172250.3(MMAA):c.817C>T (p.Gln273Ter) GRCh37: Chr4:146572297 GRCh38: Chr4:145651145	MMAA	Q273*	Methylmalonic aciduria, cblA type	Pathogenic (Aug 21, 2022)	criteria provided, single submitter
Select item 202034235.	NM_172250.3(MMAA):c.1212A>C (p.Gly404=) GRCh37: Chr4:146576541 GRCh38: Chr4:145655389	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jul 29, 2022)	criteria provided, single submitter
Select item 201907736.	NM_172250.3(MMAA):c.333T>C (p.Thr111=) GRCh37: Chr4:146560624 GRCh38: Chr4:145639472	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 201003937.	NM_172250.3(MMAA):c.820-7T>C GRCh37: Chr4:146575139 GRCh38: Chr4:145653987	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jul 3, 2022)	criteria provided, single submitter
Select item 200679638.	NM_172250.3(MMAA):c.1149C>T (p.Pro383=) GRCh37: Chr4:146576478 GRCh38: Chr4:145655326	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jun 15, 2022)	criteria provided, single submitter
Select item 200320139.	NM_172250.3(MMAA):c.940del (p.Arg314fs) GRCh37: Chr4:146575265 GRCh38: Chr4:145654113	MMAA	R314fs	Methylmalonic aciduria, cblA type	Pathogenic (Jun 8, 2022)	criteria provided, single submitter
Select item 200045440.	NM_172250.3(MMAA):c.970-19G>T GRCh37: Chr4:146576280 GRCh38: Chr4:145655128	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jan 3, 2022)	criteria provided, single submitter
Select item 199923541.	NM_172250.3(MMAA):c.170del (p.Leu57fs) GRCh37: Chr4:146560461 GRCh38: Chr4:145639309	MMAA	L57fs	Methylmalonic aciduria, cblA type	Pathogenic (May 27, 2022)	criteria provided, single submitter
Select item 199254242.	NM_172250.3(MMAA):c.546T>C (p.Ser182=) GRCh37: Chr4:146563621 GRCh38: Chr4:145642469	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 198516843.	NM_172250.3(MMAA):c.832G>A (p.Gly278Ser) GRCh37: Chr4:146575158 GRCh38: Chr4:145654006	MMAA	G278S	Methylmalonic aciduria, cblA type	Likely pathogenic (Jun 18, 2022)	criteria provided, single submitter
Select item 198190644.	NM_172250.3(MMAA):c.346A>C (p.Lys116Gln) GRCh37: Chr4:146560637 GRCh38: Chr4:145639485	MMAA	K116Q	Methylmalonic aciduria, cblA type	Uncertain significance (Apr 26, 2022)	criteria provided, single submitter
Select item 197523745.	NM_172250.3(MMAA):c.1216_1229GCA[2]GACTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCGCAGCAGACTTCTT[1] (p.Leu410delinsPhePhePhePhePhePhePheXaaXaaXaaXaaIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer) GRCh37: Chr4:146576544-146576545 GRCh38: Chr4:145655392-145655393	MMAA		Methylmalonic aciduria, cblA type	Pathogenic (Sep 19, 2022)	criteria provided, single submitter
Select item 197521746.	NM_172250.3(MMAA):c.1162C>T (p.Gln388Ter) GRCh37: Chr4:146576491 GRCh38: Chr4:145655339	MMAA	Q388*	Methylmalonic aciduria, cblA type	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 196520247.	NM_172250.3(MMAA):c.702G>T (p.Ala234=) GRCh37: Chr4:146567277 GRCh38: Chr4:145646125	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Mar 5, 2022)	criteria provided, single submitter
Select item 195456048.	NM_172250.3(MMAA):c.1117G>T (p.Glu373Ter) GRCh37: Chr4:146576446 GRCh38: Chr4:145655294	MMAA	E373*	Methylmalonic aciduria, cblA type	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 195280049.	NM_172250.3(MMAA):c.21T>C (p.His7=) GRCh37: Chr4:146560312 GRCh38: Chr4:145639160	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 195234650.	NM_172250.3(MMAA):c.354A>G (p.Leu118=) GRCh37: Chr4:146560645 GRCh38: Chr4:145639493	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Sep 23, 2022)	criteria provided, single submitter
Select item 195052551.	NM_172250.3(MMAA):c.443T>A (p.Leu148Ter) GRCh37: Chr4:146563518 GRCh38: Chr4:145642366	MMAA	L148*	Methylmalonic aciduria, cblA type	Pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 194822652.	NM_172250.3(MMAA):c.786A>G (p.Leu262=) GRCh37: Chr4:146572266 GRCh38: Chr4:145651114	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Oct 24, 2022)	criteria provided, single submitter
Select item 194363453.	NM_172250.3(MMAA):c.1120del (p.Ser374fs) GRCh37: Chr4:146576447 GRCh38: Chr4:145655295	MMAA	S374fs	Methylmalonic aciduria, cblA type	Uncertain significance (Sep 13, 2022)	criteria provided, single submitter
Select item 192936154.	NM_172250.3(MMAA):c.820-2A>G GRCh37: Chr4:146575144 GRCh38: Chr4:145653992	MMAA		Methylmalonic aciduria, cblA type	Likely pathogenic (Jan 12, 2022)	criteria provided, single submitter
Select item 191110755.	NM_172250.3(MMAA):c.440-10dup GRCh37: Chr4:146563502-146563503 GRCh38: Chr4:145642350-145642351	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Dec 6, 2021)	criteria provided, single submitter
Select item 189588256.	NM_172250.3(MMAA):c.762T>A (p.Ala254=) GRCh37: Chr4:146572242 GRCh38: Chr4:145651090	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jun 13, 2022)	criteria provided, single submitter
Select item 172694257.	NM_172250.3(MMAA):c.490G>T (p.Gly164Ter) GRCh37: Chr4:146563565 GRCh38: Chr4:145642413	MMAA	G164*	Methylmalonic aciduria, cblA type	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172686058.	NM_172250.3(MMAA):c.493A>T (p.Lys165Ter) GRCh37: Chr4:146563568 GRCh38: Chr4:145642416	MMAA	K165*	Methylmalonic aciduria, cblA type	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172526459.	NM_172250.3(MMAA):c.420_422delinsTGTGATT (p.Lys140fs) GRCh37: Chr4:146560711-146560713 GRCh38: Chr4:145639559-145639561	MMAA	K140fs	Methylmalonic aciduria, cblA type	Likely pathogenic (Mar 15, 2022)	criteria provided, single submitter
Select item 172494260.	NM_172250.3(MMAA):c.523dup (p.Ser175fs) GRCh37: Chr4:146563597-146563598 GRCh38: Chr4:145642445-145642446	MMAA	S175fs	Methylmalonic aciduria, cblA type	Likely pathogenic (Mar 3, 2022)	criteria provided, single submitter
Select item 172476261.	NM_172250.3(MMAA):c.601_602del (p.Ser201fs) GRCh37: Chr4:146567176-146567177 GRCh38: Chr4:145646024-145646025	MMAA	S201fs	Methylmalonic aciduria, cblA type	Likely pathogenic (Feb 25, 2022)	criteria provided, single submitter
Select item 172453062.	NM_172250.3(MMAA):c.708T>A (p.Tyr236Ter) GRCh37: Chr4:146567283 GRCh38: Chr4:145646131	MMAA	Y236*	Methylmalonic aciduria, cblA type	Likely pathogenic (Feb 19, 2022)	criteria provided, single submitter
Select item 172442763.	NM_172250.3(MMAA):c.496del (p.Met166fs) GRCh37: Chr4:146563567 GRCh38: Chr4:145642415	MMAA	M166fs	Methylmalonic aciduria, cblA type	Likely pathogenic (Feb 17, 2022)	criteria provided, single submitter
Select item 172423864.	NM_172250.3(MMAA):c.785T>A (p.Leu262Ter) GRCh37: Chr4:146572265 GRCh38: Chr4:145651113	MMAA	L262*	Methylmalonic aciduria, cblA type	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 172397165.	NM_172250.3(MMAA):c.636delinsAGG (p.Thr213fs) GRCh37: Chr4:146567211 GRCh38: Chr4:145646059	MMAA	T213fs	Methylmalonic aciduria, cblA type	Likely pathogenic (Jan 17, 2022)	criteria provided, single submitter
Select item 171397466.	NM_172250.3(MMAA):c.314T>C (p.Ile105Thr) GRCh37: Chr4:146560605 GRCh38: Chr4:145639453	MMAA	I105T	Methylmalonic aciduria, cblA type	Uncertain significance (Jul 27, 2022)	criteria provided, single submitter
Select item 167339367.	NM_172250.3(MMAA):c.1203G>A (p.Leu401=) GRCh37: Chr4:146576532 GRCh38: Chr4:145655380	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jul 8, 2021)	criteria provided, single submitter
Select item 166805668.	NM_172250.3(MMAA):c.1149C>A (p.Pro383=) GRCh37: Chr4:146576478 GRCh38: Chr4:145655326	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jul 5, 2022)	criteria provided, single submitter
Select item 166697169.	NM_172250.3(MMAA):c.1095T>C (p.Val365=) GRCh37: Chr4:146576424 GRCh38: Chr4:145655272	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Dec 27, 2020)	criteria provided, single submitter
Select item 166689570.	NM_172250.3(MMAA):c.603A>G (p.Ser201=) GRCh37: Chr4:146567178 GRCh38: Chr4:145646026	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Aug 22, 2021)	criteria provided, single submitter
Select item 166563571.	NM_172250.3(MMAA):c.924T>C (p.Ser308=) GRCh37: Chr4:146575250 GRCh38: Chr4:145654098	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jun 24, 2021)	criteria provided, single submitter
Select item 166399872.	NM_172250.3(MMAA):c.816G>A (p.Leu272=) GRCh37: Chr4:146572296 GRCh38: Chr4:145651144	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Dec 21, 2020)	criteria provided, single submitter
Select item 165668273.	NM_172250.3(MMAA):c.288G>A (p.Gly96=) GRCh37: Chr4:146560579 GRCh38: Chr4:145639427	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Aug 1, 2021)	criteria provided, single submitter
Select item 165241974.	NM_172250.3(MMAA):c.1023A>G (p.Lys341=) GRCh37: Chr4:146576352 GRCh38: Chr4:145655200	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Nov 16, 2020)	criteria provided, single submitter
Select item 164953375.	NM_172250.3(MMAA):c.177T>C (p.Asp59=) GRCh37: Chr4:146560468 GRCh38: Chr4:145639316	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Nov 10, 2020)	criteria provided, single submitter
Select item 164747276.	NM_172250.3(MMAA):c.402A>G (p.Glu134=) GRCh37: Chr4:146560693 GRCh38: Chr4:145639541	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Aug 19, 2022)	criteria provided, single submitter
Select item 164662377.	NM_172250.3(MMAA):c.168G>A (p.Leu56=) GRCh37: Chr4:146560459 GRCh38: Chr4:145639307	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Apr 8, 2021)	criteria provided, single submitter
Select item 164632678.	NM_172250.3(MMAA):c.513G>A (p.Gly171=) GRCh37: Chr4:146563588 GRCh38: Chr4:145642436	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Sep 2, 2021)	criteria provided, single submitter
Select item 164157979.	NM_172250.3(MMAA):c.885G>A (p.Leu295=) GRCh37: Chr4:146575211 GRCh38: Chr4:145654059	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Mar 24, 2021)	criteria provided, single submitter
Select item 163527480.	NM_172250.3(MMAA):c.1056T>C (p.Ser352=) GRCh37: Chr4:146576385 GRCh38: Chr4:145655233	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Aug 9, 2021)	criteria provided, single submitter
Select item 163492481.	NM_172250.3(MMAA):c.369T>G (p.Leu123=) GRCh37: Chr4:146560660 GRCh38: Chr4:145639508	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jul 22, 2022)	criteria provided, single submitter
Select item 162385082.	NM_172250.3(MMAA):c.204A>G (p.Gln68=) GRCh37: Chr4:146560495 GRCh38: Chr4:145639343	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jan 12, 2021)	criteria provided, single submitter
Select item 161927983.	NM_172250.3(MMAA):c.891G>A (p.Val297=) GRCh37: Chr4:146575217 GRCh38: Chr4:145654065	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Apr 7, 2021)	criteria provided, single submitter
Select item 161593184.	NM_172250.3(MMAA):c.820-8C>G GRCh37: Chr4:146575138 GRCh38: Chr4:145653986	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Nov 7, 2021)	criteria provided, single submitter
Select item 160979585.	NM_172250.3(MMAA):c.1170A>G (p.Pro390=) GRCh37: Chr4:146576499 GRCh38: Chr4:145655347	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jul 3, 2021)	criteria provided, single submitter
Select item 160967186.	NM_172250.3(MMAA):c.564A>T (p.Gly188=) GRCh37: Chr4:146567139 GRCh38: Chr4:145645987	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Oct 17, 2021)	criteria provided, single submitter
Select item 160687687.	NM_172250.3(MMAA):c.600A>G (p.Leu200=) GRCh37: Chr4:146567175 GRCh38: Chr4:145646023	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Sep 25, 2021)	criteria provided, single submitter
Select item 160277188.	NM_172250.3(MMAA):c.563-9A>G GRCh37: Chr4:146567129 GRCh38: Chr4:145645977	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Sep 12, 2022)	criteria provided, single submitter
Select item 158773289.	NM_172250.3(MMAA):c.1131G>A (p.Glu377=) GRCh37: Chr4:146576460 GRCh38: Chr4:145655308	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Oct 16, 2021)	criteria provided, single submitter
Select item 158264890.	NM_172250.3(MMAA):c.562+9G>A GRCh37: Chr4:146563646 GRCh38: Chr4:145642494	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Sep 10, 2021)	criteria provided, single submitter
Select item 158237491.	NM_172250.3(MMAA):c.927A>G (p.Ala309=) GRCh37: Chr4:146575253 GRCh38: Chr4:145654101	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jul 23, 2022)	criteria provided, single submitter
Select item 157808992.	NM_172250.3(MMAA):c.440-17A>T GRCh37: Chr4:146563498 GRCh38: Chr4:145642346	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jul 14, 2022)	criteria provided, single submitter
Select item 157761393.	NM_172250.3(MMAA):c.618A>G (p.Ala206=) GRCh37: Chr4:146567193 GRCh38: Chr4:145646041	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jul 12, 2022)	criteria provided, single submitter
Select item 157604194.	NM_172250.3(MMAA):c.563-12T>C GRCh37: Chr4:146567126 GRCh38: Chr4:145645974	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Mar 20, 2021)	criteria provided, single submitter
Select item 157579495.	NM_172250.3(MMAA):c.762T>C (p.Ala254=) GRCh37: Chr4:146572242 GRCh38: Chr4:145651090	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Aug 3, 2021)	criteria provided, single submitter
Select item 157186696.	NM_172250.3(MMAA):c.657C>A (p.Gly219=) GRCh37: Chr4:146567232 GRCh38: Chr4:145646080	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Mar 15, 2022)	criteria provided, single submitter
Select item 157017997.	NM_172250.3(MMAA):c.663A>G (p.Thr221=) GRCh37: Chr4:146567238 GRCh38: Chr4:145646086	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jul 3, 2021)	criteria provided, single submitter
Select item 156454198.	NM_172250.3(MMAA):c.240T>C (p.Asp80=) GRCh37: Chr4:146560531 GRCh38: Chr4:145639379	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Jul 13, 2021)	criteria provided, single submitter
Select item 156067899.	NM_172250.3(MMAA):c.33T>C (p.His11=) GRCh37: Chr4:146560324 GRCh38: Chr4:145639172	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Aug 15, 2022)	criteria provided, single submitter
Select item 1558168100.	NM_172250.3(MMAA):c.117A>G (p.Pro39=) GRCh37: Chr4:146560408 GRCh38: Chr4:145639256	MMAA		Methylmalonic aciduria, cblA type	Likely benign (Sep 13, 2022)	criteria provided, single submitter

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