"Baylor Genetics"[submitter] AND "ACSF3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1455778	NM_001243279.3(ACSF3):c.16del (p.Val6fs)	ACSF3 (V6fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 2680438	NM_001243279.3(ACSF3):c.119C>A (p.Ser40Ter)	ACSF3 (S40*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680491	NM_001243279.3(ACSF3):c.147_153del (p.Ala50fs)	ACSF3 (A50fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 1029289	NM_001243279.3(ACSF3):c.149C>T (p.Ala50Val)	ACSF3 (A50V)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 1074603	NM_001243279.3(ACSF3):c.155_161del (p.Ala52fs)	ACSF3 (A52fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 2680431	NM_001243279.3(ACSF3):c.191_201del (p.Gly64fs)	ACSF3 (G64fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680522	NM_001243279.3(ACSF3):c.216T>G (p.Tyr72Ter)	ACSF3 (Y72*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 1072051	NM_001243279.3(ACSF3):c.238C>T (p.Gln80Ter)	ACSF3 (Q80*)	Single nucleotide variant (nonsense +2 more)	ACSF3-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 855742	NM_001243279.3(ACSF3):c.246del (p.Cys83fs)	ACSF3 (C83fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 942038	NM_001243279.3(ACSF3):c.261del (p.Cys88fs)	ACSF3 (C88fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 2680429	NM_001243279.3(ACSF3):c.265_266del (p.Val89fs)	ACSF3 (V89fs)	Microsatellite (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 657796	NM_001243279.3(ACSF3):c.305del (p.Cys102fs)	ACSF3 (C102fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 1677208	NM_001243279.3(ACSF3):c.311A>T (p.Asn104Ile)	ACSF3 (N104I)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia +1 more	GConflicting classifications of pathogenicity
Select item 203605	NM_001243279.3(ACSF3):c.348G>A (p.Trp116Ter)	ACSF3 (W116*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 2680447	NM_001243279.3(ACSF3):c.407_408del (p.Tyr136fs)	ACSF3 (Y136fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 1400260	NM_001243279.3(ACSF3):c.408T>A (p.Tyr136Ter)	ACSF3 (Y136*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 956758	NM_001243279.3(ACSF3):c.408T>G (p.Tyr136Ter)	ACSF3 (Y136*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 839825	NM_001243279.3(ACSF3):c.424C>T (p.Gln142Ter)	ACSF3 (Q142*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 642668	NM_001243279.3(ACSF3):c.451G>T (p.Glu151Ter)	ACSF3 (E151*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 2680548	NM_001243279.3(ACSF3):c.473_481delinsTCCAGGAAGCT (p.Pro158fs)	ACSF3 (P158fs)	Indel (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680534	NM_001243279.3(ACSF3):c.484A>T (p.Lys162Ter)	ACSF3 (K162*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 3240966	NM_001243279.3(ACSF3):c.516_522del (p.Ala173fs)	ACSF3 (A173fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680427	NM_001243279.3(ACSF3):c.560dup (p.Glu189fs)	ACSF3 (E189fs)	Duplication (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680558	NM_001243279.3(ACSF3):c.575G>A (p.Trp192Ter)	ACSF3 (W192*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 1071765	NM_001243279.3(ACSF3):c.576G>A (p.Trp192Ter)	ACSF3 (W192*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 2680396	NM_001243279.3(ACSF3):c.634G>A (p.Val212Met)	ACSF3 (V212M)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680532	NM_001243279.3(ACSF3):c.653del (p.Asn218fs)	ACSF3 (N218fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2119910	NM_001243279.3(ACSF3):c.666+1G>T	ACSF3	Single nucleotide variant (splice donor variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 1923886	NM_001243279.3(ACSF3):c.667-2A>G	ACSF3	Single nucleotide variant (splice acceptor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 642486	NM_001243279.3(ACSF3):c.689G>A (p.Trp230Ter)	ACSF3 (W230*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 936178	NM_001243279.3(ACSF3):c.690G>A (p.Trp230Ter)	ACSF3 (W230*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 3240989	NM_001243279.3(ACSF3):c.696G>A (p.Trp232Ter)	ACSF3 (W232*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680601	NM_001243279.3(ACSF3):c.749_750del (p.Val250fs)	ACSF3 (V250fs)	Microsatellite (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 1075477	NM_001243279.3(ACSF3):c.757dup (p.Ala253fs)	ACSF3 (A253fs)	Duplication (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 943596	NM_001243279.3(ACSF3):c.781G>T (p.Gly261Ter)	ACSF3 (G261*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 2680553	NM_001243279.3(ACSF3):c.797_800dup (p.Met267fs)	ACSF3 (M267fs +1 more)	Duplication (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 851516	NM_001243279.3(ACSF3):c.803del (p.Pro268fs)	ACSF3 (P3fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1451412	NM_001243279.3(ACSF3):c.817C>T (p.Gln273Ter)	ACSF3 (Q8* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 1071065	NM_001243279.3(ACSF3):c.820C>T (p.Gln274Ter)	ACSF3 (Q274* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 1495791	NM_001243279.3(ACSF3):c.822+1G>A	ACSF3	Single nucleotide variant (splice donor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 1519754	NM_001243279.3(ACSF3):c.822+2T>C	ACSF3	Single nucleotide variant (splice donor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 959078	NM_001243279.3(ACSF3):c.827G>A (p.Trp276Ter)	ACSF3 (W276* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 2680562	NM_001243279.3(ACSF3):c.829G>T (p.Glu277Ter)	ACSF3 (E12* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680375	NM_001243279.3(ACSF3):c.866del (p.Val289fs)	ACSF3 (V24fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 1068495	NM_001243279.3(ACSF3):c.891C>A (p.Tyr297Ter)	ACSF3 (Y297* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 2680538	NM_001243279.3(ACSF3):c.909C>G (p.Tyr303Ter)	ACSF3 (Y303* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 1940454	NM_001243279.3(ACSF3):c.940C>T (p.Gln314Ter)	ACSF3 (Q49* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 2680580	NM_001243279.3(ACSF3):c.967del (p.Glu323fs)	ACSF3 (E323fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680573	NM_001243279.3(ACSF3):c.977+1G>T	ACSF3	Single nucleotide variant (splice donor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2166083	NM_001243279.3(ACSF3):c.977+1G>A	ACSF3	Single nucleotide variant (splice donor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 1523766	NM_001243279.3(ACSF3):c.977+1G>C	ACSF3	Single nucleotide variant (splice donor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2160724	NM_001243279.3(ACSF3):c.978-2A>G	ACSF3, LOC125177393	Single nucleotide variant (splice acceptor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 1067132	NM_001243279.3(ACSF3):c.978-1G>A	ACSF3, LOC125177393	Single nucleotide variant (splice acceptor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 1426657	NM_001243279.3(ACSF3):c.1003del (p.Leu335fs)	ACSF3, LOC125177393 (L335fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 429625	NM_001243279.3(ACSF3):c.1028G>A (p.Trp343Ter)	ACSF3, LOC125177393 (W343* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 31136	NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys)	ACSF3, LOC125177393 (E359K +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 539847	NM_001243279.3(ACSF3):c.1081G>A (p.Gly361Ser)	ACSF3, LOC125177393 (G361S +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia +2 more	GConflicting classifications of pathogenicity
Select item 991086	NM_001243279.3(ACSF3):c.1096G>A (p.Gly366Arg)	ACSF3, LOC125177393 (G101R +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia +1 more	GUncertain significance
Select item 1373556	NM_001243279.3(ACSF3):c.1110del (p.Ala371fs)	ACSF3, LOC125177393 (A371fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 1066114	NM_001243279.3(ACSF3):c.1126+1G>A	ACSF3, LOC125177393	Single nucleotide variant (splice donor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 1984815	NM_001243279.3(ACSF3):c.1172C>G (p.Ser391Ter)	ACSF3 (S126* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 1456912	NM_001243279.3(ACSF3):c.1183_1184del (p.Gln395fs)	ACSF3 (Q130fs +1 more)	Microsatellite (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 3241005	NM_001243279.3(ACSF3):c.1192del (p.Ala398fs)	ACSF3 (A133fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680550	NM_001243279.3(ACSF3):c.1203C>A (p.Tyr401Ter)	ACSF3 (Y136* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 3241007	NM_001243279.3(ACSF3):c.1234del (p.Thr412fs)	ACSF3 (T147fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680511	NM_001243279.3(ACSF3):c.1239+1G>A	ACSF3	Single nucleotide variant (splice donor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680421	NM_001243279.3(ACSF3):c.1240-1G>A	ACSF3	Single nucleotide variant (splice acceptor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680471	NM_001243279.3(ACSF3):c.1247del (p.Pro416fs)	ACSF3 (P151fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 1076675	NM_001243279.3(ACSF3):c.1270del (p.Glu424fs)	ACSF3 (E159fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 2680453	NM_001243279.3(ACSF3):c.1293del (p.Val432fs)	ACSF3 (V167fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 1070125	NM_001243279.3(ACSF3):c.1296del (p.Arg434fs)	ACSF3 (R169fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 639703	NM_001243279.3(ACSF3):c.1300C>T (p.Arg434Ter)	ACSF3 (R169* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 1723423	NM_001243279.3(ACSF3):c.1303G>T (p.Glu435Ter)	ACSF3 (E170* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 844844	NM_001243279.3(ACSF3):c.1310G>A (p.Trp437Ter)	ACSF3 (W437* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 2680499	NM_001243279.3(ACSF3):c.1324G>T (p.Glu442Ter)	ACSF3 (E177* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 1070367	NM_001243279.3(ACSF3):c.1328del (p.Thr443fs)	ACSF3 (T178fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 1069517	NM_001243279.3(ACSF3):c.1329dup (p.Lys444Ter)	ACSF3 (K179* +1 more)	Duplication (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 2680432	NM_001243279.3(ACSF3):c.1331dup (p.Ser445fs)	ACSF3 (S180fs +1 more)	Duplication (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 3240996	NM_001243279.3(ACSF3):c.1333_1334del (p.Ser445fs)	ACSF3 (S180fs +1 more)	Microsatellite (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680462	NM_001243279.3(ACSF3):c.1366+1G>T	ACSF3	Single nucleotide variant (splice donor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2439752	NM_001243279.3(ACSF3):c.1367-23_1396del	ACSF3	Microsatellite (splice acceptor variant)	Combined malonic and methylmalonic acidemia	GConflicting classifications of pathogenicity
Select item 2680483	NM_001243279.3(ACSF3):c.1367-41_1398delinsATCCG	ACSF3	Indel (non-coding transcript variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 3240967	NM_001243279.3(ACSF3):c.1367-2A>C	ACSF3	Single nucleotide variant (non-coding transcript variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 426372	NM_001243279.3(ACSF3):c.1378dup (p.Val460fs)	ACSF3 (V460fs +1 more)	Duplication (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia +1 more	GPathogenic/Likely pathogenic
Select item 3240971	NM_001243279.3(ACSF3):c.1382_1383del (p.Val460_Phe461insTer)	ACSF3	Deletion (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2137862	NM_001243279.3(ACSF3):c.1385_1407delinsCGGAT (p.Lys462_Arg469delinsThrAsp)	ACSF3	Indel (inframe_indel +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1029287	NM_001243279.3(ACSF3):c.1401G>A (p.Trp467Ter)	ACSF3 (W467* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 569646	NM_001243279.3(ACSF3):c.1405C>T (p.Arg469Ter)	ACSF3 (R469* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 31138	NM_001243279.3(ACSF3):c.1412G>A (p.Arg471Gln)	ACSF3 (R471Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1029288	NM_001243279.3(ACSF3):c.1444T>C (p.Tyr482His)	ACSF3 (Y482H +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 419126	NM_001243279.3(ACSF3):c.1446_1447del (p.Tyr482_Lys483delinsTer)	ACSF3	Deletion (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 3241001	NM_001243279.3(ACSF3):c.1448dup (p.Val484fs)	ACSF3 (V219fs +1 more)	Duplication (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 377432	NM_001243279.3(ACSF3):c.1470G>C (p.Glu490Asp)	ACSF3 (E490D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2680592	NM_001243279.3(ACSF3):c.1491dup (p.Ser498fs)	ACSF3 (S233fs +1 more)	Duplication (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680459	NM_001243279.3(ACSF3):c.1501+1G>A	ACSF3	Single nucleotide variant (splice donor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 1905197	NM_001243279.3(ACSF3):c.1501+1G>T	ACSF3	Single nucleotide variant (splice donor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 598729	NM_001243279.3(ACSF3):c.1502-2A>G	ACSF3	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 843811	NM_001243279.3(ACSF3):c.1535G>A (p.Trp512Ter)	ACSF3 (W247* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 1029290	NM_001243279.3(ACSF3):c.1536G>A (p.Trp512Ter)	ACSF3 (W247* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 2680585	NM_001243279.3(ACSF3):c.1546dup (p.Val516fs)	ACSF3 (V251fs +1 more)	Duplication (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic

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