ClinVar for MedGen (Select 344424) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068217	NM_000255.4(MMUT):c.183G>T (p.Trp61Cys)	MMUT (W61C)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 3064897	NM_000255.4(MMUT):c.1091A>G (p.Tyr364Cys)	MMUT (Y364C)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely benign
Select item 3061795	NM_000255.4(MMUT):c.753+3A>G	MMUT	Single nucleotide variant (intron variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 2627569	NM_000255.4(MMUT):c.1160C>T (p.Thr387Ile)	MMUT (T387I)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GPathogenic
Select item 2585581	NM_000255.4(MMUT):c.438del (p.Gly145_Tyr146insTer)	MMUT	Deletion (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 2584414	NM_000255.4(MMUT):c.1160C>A (p.Thr387Lys)	MMUT (T387K)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GLikely pathogenic
Select item 2583162	NM_000255.4(MMUT):c.1933_1937del (p.Val645fs)	MMUT (V645fs)	Deletion (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GPathogenic
Select item 2441461	NM_000255.4(MMUT):c.1802del (p.Ile601fs)	MMUT (I601fs)	Deletion (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 2433768	NM_000255.4(MMUT):c.2180G>A (p.Arg727Gln)	MMUT (R727Q)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 2433767	NM_000255.4(MMUT):c.404C>T (p.Ser135Leu)	MMUT (S135L)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 2124741	NM_000255.4(MMUT):c.430C>T (p.Arg144Cys)	MMUT (R144C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1895406	NM_000255.4(MMUT):c.1622C>T (p.Ala541Val)	MMUT (A541V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 1804011	NM_000255.4(MMUT):c.1162A>C (p.Asn388His)	MMUT (N388H)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1726546	NM_000255.4(MMUT):c.1525_1526del (p.Val510fs)	MMUT (V510fs)	Deletion (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 1725732	NM_000255.4(MMUT):c.1590_1591del (p.Glu531fs)	MMUT (E531fs)	Deletion (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 1725596	NM_000255.4(MMUT):c.763A>T (p.Lys255Ter)	MMUT (K255*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 1725478	NM_000255.4(MMUT):c.511A>T (p.Lys171Ter)	MMUT (K171*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 1725143	NM_000255.4(MMUT):c.1722_1723del (p.Glu575fs)	MMUT (E575fs)	Deletion (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 1724873	NM_000255.4(MMUT):c.975del (p.Arg326fs)	MMUT (R326fs)	Deletion (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 1724673	NM_000255.4(MMUT):c.1171_1172delinsT (p.Asp391fs)	MMUT (D391fs)	Indel (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 1724415	NM_000255.4(MMUT):c.1469del (p.Asn490fs)	MMUT (N490fs)	Deletion (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 1723998	NM_000255.4(MMUT):c.1092C>A (p.Tyr364Ter)	MMUT (Y364*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 1685951	NM_000255.4(MMUT):c.1843C>A (p.Pro615Thr)	MMUT (P615T)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1665711	NM_000255.4(MMUT):c.912-13G>A	MMUT	Single nucleotide variant (intron variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GLikely benign
Select item 1624649	NM_000255.4(MMUT):c.912-14C>T	MMUT	Single nucleotide variant (intron variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GLikely benign
Select item 1601040	NM_000255.4(MMUT):c.1956+17G>C	MMUT	Single nucleotide variant (intron variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GBenign/Likely benign
Select item 1599761	NM_000255.4(MMUT):c.1444+13G>A	MMUT	Single nucleotide variant (intron variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GBenign/Likely benign
Select item 1582969	NM_000255.4(MMUT):c.2124+16A>G	MMUT	Single nucleotide variant (intron variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GLikely benign
Select item 1537943	NM_000255.4(MMUT):c.1084-12C>T	MMUT	Single nucleotide variant (intron variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GLikely benign
Select item 1525899	NM_000255.4(MMUT):c.1607C>T (p.Ala536Val)	MMUT (A536V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GUncertain significance
Select item 1522733	NM_000255.4(MMUT):c.545T>G (p.Met182Arg)	MMUT (M182R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1519718	NM_000255.4(MMUT):c.1970T>C (p.Val657Ala)	MMUT (V657A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1483409	NM_000255.4(MMUT):c.1828C>T (p.Arg610Cys)	MMUT (R610C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1453225	NM_000255.4(MMUT):c.751A>T (p.Lys251Ter)	MMUT (K251*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1442049	NM_000255.4(MMUT):c.359A>G (p.Asn120Ser)	MMUT (N120S)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GUncertain significance
Select item 1435195	NM_000255.4(MMUT):c.1415C>T (p.Ala472Val)	MMUT (A472V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GUncertain significance
Select item 1422287	NM_000255.4(MMUT):c.1159A>C (p.Thr387Pro)	MMUT (T387P)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1417799	NM_000255.4(MMUT):c.912G>A (p.Arg304=)	MMUT	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GUncertain significance
Select item 1367048	NM_000255.4(MMUT):c.1670G>A (p.Arg557Gln)	MMUT (R557Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1363055	NM_000255.4(MMUT):c.1421G>C (p.Arg474Pro)	MMUT (R474P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1358455	NM_000255.4(MMUT):c.839dup (p.Leu281fs)	MMUT (L281fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1339246	NM_000255.4(MMUT):c.595T>G (p.Phe199Val)	MMUT (F199V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 1339243	NM_000255.4(MMUT):c.2213A>G (p.Asp738Gly)	MMUT (D738G)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 1324726	NM_000255.4(MMUT):c.386-1G>A	MMUT	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 1323284	NM_000255.4(MMUT):c.1240G>T (p.Glu414Ter)	MMUT (E414*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GPathogenic
Select item 1228384	NM_000255.4(MMUT):c.1996G>A (p.Val666Met)	MMUT (V666M)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 1209609	NM_000255.4(MMUT):c.733A>G (p.Ile245Val)	MMUT (I245V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 1209608	NM_000255.4(MMUT):c.1094A>G (p.Asn365Ser)	MMUT (N365S)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 1205984	NM_000255.4(MMUT):c.1906A>G (p.Thr636Ala)	MMUT (T636A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1175339	NM_000255.4(MMUT):c.912-138C>T	MMUT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1175338	NM_000255.4(MMUT):c.912-110C>T	MMUT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1175337	NM_000255.4(MMUT):c.1083+57C>T	MMUT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1154630	NM_000255.4(MMUT):c.756C>T (p.His252=)	MMUT	Single nucleotide variant (synonymous variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GLikely benign
Select item 1143831	NM_000255.4(MMUT):c.2046T>C (p.Val682=)	MMUT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1138384	NM_000255.4(MMUT):c.954A>G (p.Glu318=)	MMUT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1110497	NM_000255.4(MMUT):c.123A>G (p.Pro41=)	MMUT	Single nucleotide variant (synonymous variant)	MMUT-related condition +2 more	GLikely benign
Select item 1073632	NM_000255.4(MMUT):c.581C>T (p.Pro194Leu)	MMUT (P194L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1072649	NM_000255.4(MMUT):c.29del (p.Leu10fs)	MMUT (L10fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1038735	NM_000255.4(MMUT):c.2084C>T (p.Pro695Leu)	MMUT (P695L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1028161	NM_000255.4(MMUT):c.235A>G (p.Met79Val)	MMUT (M79V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GUncertain significance
Select item 1028160	NM_000255.4(MMUT):c.1435A>G (p.Ile479Val)	MMUT (I479V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1027373	NM_000255.4(MMUT):c.438T>A (p.Tyr146Ter)	MMUT (Y146*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GPathogenic
Select item 1016633	NM_000255.4(MMUT):c.227G>A (p.Arg76Lys)	MMUT (R76K)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GUncertain significance
Select item 1001769	NM_000255.4(MMUT):c.161A>G (p.Lys54Arg)	MMUT (K54R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 999265	NM_000255.4(MMUT):c.2087A>C (p.Asp696Ala)	MMUT (D696A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 992994	NM_000255.4(MMUT):c.785G>T (p.Ser262Ile)	MMUT (S262I)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 992466	NM_000255.4(MMUT):c.1243G>T (p.Glu415Ter)	MMUT (E415*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GPathogenic
Select item 984273	NM_000255.4(MMUT):c.397G>T (p.Gly133Ter)	MMUT (G133*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 984272	NM_000255.4(MMUT):c.401T>A (p.Leu134Ter)	MMUT (L134*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 984271	NM_000255.4(MMUT):c.706G>T (p.Glu236Ter)	MMUT (E236*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 984270	NM_000255.4(MMUT):c.787G>T (p.Gly263Ter)	MMUT (G263*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 984269	NM_000255.4(MMUT):c.842T>A (p.Leu281Ter)	MMUT (L281*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 984151	NM_000255.4(MMUT):c.934G>T (p.Gly312Ter)	MMUT (G312*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 984150	NM_000255.4(MMUT):c.987G>A (p.Trp329Ter)	MMUT (W329*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 984149	NM_000255.4(MMUT):c.995T>G (p.Leu332Ter)	MMUT (L332*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 984148	NM_000255.4(MMUT):c.1198A>T (p.Lys400Ter)	MMUT (K400*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 984147	NM_000255.4(MMUT):c.1287C>A (p.Tyr429Ter)	MMUT (Y429*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 984146	NM_000255.4(MMUT):c.1348G>T (p.Glu450Ter)	MMUT (E450*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 984145	NM_000255.4(MMUT):c.1369A>T (p.Lys457Ter)	MMUT (K457*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 984144	NM_000255.4(MMUT):c.1564A>T (p.Lys522Ter)	MMUT (K522*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 983779	NM_000255.4(MMUT):c.1761T>A (p.Tyr587Ter)	MMUT (Y587*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 983778	NM_000255.4(MMUT):c.1870C>T (p.Gln624Ter)	MMUT (Q624*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 982111	NM_000255.4(MMUT):c.810_811delinsA (p.Ala271fs)	MMUT (A271fs)	Indel (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GPathogenic
Select item 982110	NM_000255.4(MMUT):c.1445-1G>C	MMUT	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GPathogenic
Select item 978696	NM_000255.4(MMUT):c.1787del (p.Glu596fs)	MMUT (E596fs)	Deletion (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 978695	NM_000255.4(MMUT):c.1678T>C (p.Cys560Arg)	MMUT (C560R)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 978694	NM_000255.4(MMUT):c.1673C>T (p.Ala558Val)	MMUT (A558V)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 978693	NM_000255.4(MMUT):c.1645del (p.Leu549fs)	MMUT (L549fs)	Deletion (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 978692	NM_000255.4(MMUT):c.1581dup (p.Ala528fs)	MMUT (A528fs)	Duplication (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 978691	NM_000255.4(MMUT):c.1560+2T>C	MMUT	Single nucleotide variant (splice donor variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 978690	NM_000255.4(MMUT):c.1330A>T (p.Lys444Ter)	MMUT (K444*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 978689	NM_000255.4(MMUT):c.1230CAT[1] (p.Ile412del)	MMUT (I412del)	Microsatellite (inframe_deletion)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency +1 more	GLikely pathogenic
Select item 978688	NM_000255.4(MMUT):c.1107dup (p.Thr370fs)	MMUT (T370fs)	Duplication (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 978687	NM_000255.4(MMUT):c.1102del (p.Val368fs)	MMUT (V368fs)	Deletion (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 978686	NM_000255.4(MMUT):c.893T>A (p.Ile298Asn)	MMUT (I298N)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 978685	NM_000255.4(MMUT):c.652C>G (p.Gln218Glu)	MMUT (Q218E)	Single nucleotide variant (missense variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 978684	NM_000255.4(MMUT):c.446dup (p.Asp149fs)	MMUT (D149fs)	Duplication (frameshift variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 978683	NM_000255.4(MMUT):c.422C>A (p.Ala141Glu)	MMUT (A141E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 978682	NM_000255.4(MMUT):c.7A>T (p.Arg3Ter)	MMUT (R3*)	Single nucleotide variant (nonsense)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic
Select item 978681	NM_000255.4(MMUT):c.-39-2A>G	MMUT	Single nucleotide variant (splice acceptor variant)	Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency	GLikely pathogenic

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