"Invitae"[submitter] AND "MGME1"[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 106

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1935582	NM_052865.4(MGME1):c.1A>G (p.Met1Val)	LOC126862983, MGME1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2063993	NM_052865.4(MGME1):c.9G>A (p.Met3Ile)	LOC126862983, MGME1 (M3I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2835014	NM_052865.4(MGME1):c.23C>G (p.Thr8Ser)	LOC126862983, MGME1 (T8S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1956201	NM_052865.4(MGME1):c.23C>T (p.Thr8Ile)	LOC126862983, MGME1 (T8I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2041766	NM_052865.4(MGME1):c.35del (p.Gln12fs)	LOC126862983, MGME1 (Q12fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 380041	NM_052865.4(MGME1):c.43A>T (p.Ser15Cys)	LOC126862983, MGME1 (S15C)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 11 +2 more	GBenign
Select item 2025883	NM_052865.4(MGME1):c.44G>A (p.Ser15Asn)	LOC126862983, MGME1 (S15N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2175875	NM_052865.4(MGME1):c.48_50del (p.Lys17del)	LOC126862983, MGME1 (K17del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1916908	NM_052865.4(MGME1):c.49A>G (p.Lys17Glu)	LOC126862983, MGME1 (K17E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932286	NM_052865.4(MGME1):c.52T>C (p.Phe18Leu)	LOC126862983, MGME1 (F18L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 984721	NM_052865.4(MGME1):c.55_57del (p.Ser19del)	LOC126862983, MGME1 (S19del)	Deletion (inframe_deletion)	Mitochondrial DNA depletion syndrome 11 +1 more	GUncertain significance
Select item 2165318	NM_052865.4(MGME1):c.65C>A (p.Ser22Ter)	LOC126862983, MGME1 (S22*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1951468	NM_052865.4(MGME1):c.71C>T (p.Ala24Val)	LOC126862983, MGME1 (A24V)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1942428	NM_052865.4(MGME1):c.81T>G (p.Ala27=)	MGME1, LOC126862983	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 235686	NM_052865.4(MGME1):c.86C>G (p.Ser29Cys)	LOC126862983, MGME1 (S29C)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 1941025	NM_052865.4(MGME1):c.99C>T (p.Tyr33=)	LOC126862983, MGME1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1503247	NM_052865.4(MGME1):c.103T>A (p.Cys35Ser)	LOC126862983, MGME1 (C35S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2170716	NM_052865.4(MGME1):c.109C>T (p.Arg37Trp)	LOC126862983, MGME1 (R37W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 385442	NM_052865.4(MGME1):c.114G>A (p.Lys38=)	LOC126862983, MGME1	Single nucleotide variant (synonymous variant)	MGME1-related condition +1 more	GLikely benign
Select item 2812115	NM_052865.4(MGME1):c.129A>C (p.Pro43=)	LOC126862983, MGME1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902149	NM_052865.4(MGME1):c.161_165del (p.Asn54fs)	LOC126862983, MGME1 (N54fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2413720	NM_052865.4(MGME1):c.165A>C (p.Leu55Phe)	LOC126862983, MGME1 (L55F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2006470	NM_052865.4(MGME1):c.168T>C (p.Val56=)	LOC126862983, MGME1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2003863	NM_052865.4(MGME1):c.173C>T (p.Ser58Phe)	LOC126862983, MGME1 (S58F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718131	NM_052865.4(MGME1):c.177C>G (p.Val59=)	LOC126862983, MGME1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2016368	NM_052865.4(MGME1):c.185C>T (p.Ser62Phe)	LOC126862983, MGME1 (S62F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2082870	NM_052865.4(MGME1):c.206C>T (p.Pro69Leu)	LOC126862983, MGME1 (P69L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2185004	NM_052865.4(MGME1):c.224A>G (p.Asp75Gly)	LOC126862983, MGME1 (D75G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705567	NM_052865.4(MGME1):c.228_231dup (p.Leu78fs)	LOC126862983, MGME1 (L78fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2163395	NM_052865.4(MGME1):c.234C>G (p.Leu78=)	LOC126862983, MGME1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 711756	NM_052865.4(MGME1):c.242C>G (p.Pro81Arg)	LOC126862983, MGME1 (P81R)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 11 +1 more	GConflicting classifications of pathogenicity
Select item 380551	NM_052865.4(MGME1):c.270A>G (p.Gln90=)	LOC126862983, MGME1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 2115262	NM_052865.4(MGME1):c.272G>T (p.Gly91Val)	LOC126862983, MGME1 (G91V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 720145	NM_052865.4(MGME1):c.283C>G (p.Arg95Gly)	MGME1, LOC126862983 (R95G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1452065	NM_052865.4(MGME1):c.291A>G (p.Pro97=)	LOC126862983, MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 1902931	NM_052865.4(MGME1):c.314A>G (p.Asn105Ser)	LOC126862983, MGME1 (N105S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2994316	NM_052865.4(MGME1):c.327_328dup (p.Asp110fs)	LOC126862983, MGME1 (D110fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2036628	NM_052865.4(MGME1):c.336A>G (p.Pro112=)	MGME1, LOC126862983	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1916693	NM_052865.4(MGME1):c.347A>C (p.Asp116Ala)	LOC126862983, MGME1 (D116A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1904654	NM_052865.4(MGME1):c.372C>G (p.Pro124=)	LOC126862983, MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1987889	NM_052865.4(MGME1):c.376C>G (p.Gln126Glu)	LOC126862983, MGME1 (Q126E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1969120	NM_052865.4(MGME1):c.392C>A (p.Pro131Gln)	LOC126862983, MGME1 (P131Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2143542	NM_052865.4(MGME1):c.407T>C (p.Val136Ala)	LOC126862983, MGME1 (V136A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3006884	NM_052865.4(MGME1):c.415C>T (p.Gln139Ter)	LOC126862983, MGME1 (Q139*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1301200	NM_052865.4(MGME1):c.448G>A (p.Glu150Lys)	LOC126862983, MGME1 (E150K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2093459	NM_052865.4(MGME1):c.468G>A (p.Met156Ile)	LOC126862983, MGME1 (M156I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1352210	NM_052865.4(MGME1):c.468G>T (p.Met156Ile)	LOC126862983, MGME1 (M156I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1947907	NM_052865.4(MGME1):c.478C>G (p.Leu160Val)	LOC126862983, MGME1 (L160V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2980355	NM_052865.4(MGME1):c.512-20T>C	MGME1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1962706	NM_052865.4(MGME1):c.512-15del	MGME1	Deletion (intron variant)	not provided	GLikely benign
Select item 792342	NM_052865.4(MGME1):c.512-10T>C	MGME1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 380093	NM_052865.4(MGME1):c.512-6T>C	MGME1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1902738	NM_052865.4(MGME1):c.513C>T (p.Asn171=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	MGME1-related condition +1 more	GLikely benign
Select item 445604	NM_052865.4(MGME1):c.532C>T (p.Arg178Trp)	MGME1 (R193W +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1990815	NM_052865.4(MGME1):c.533G>A (p.Arg178Gln)	MGME1 (R178Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2161400	NM_052865.4(MGME1):c.561T>G (p.Leu187=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 721648	NM_052865.4(MGME1):c.561T>C (p.Leu187=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2056466	NM_052865.4(MGME1):c.563C>G (p.Ser188Ter)	MGME1 (S108* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1914690	NM_052865.4(MGME1):c.566C>T (p.Pro189Leu)	MGME1 (P189L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 382958	NM_052865.4(MGME1):c.573A>G (p.Glu191=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2801039	NM_052865.4(MGME1):c.591T>C (p.Asp197=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2416894	NM_052865.4(MGME1):c.635T>C (p.Ile212Thr)	MGME1 (I132T +2 more)	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 725530	NM_052865.4(MGME1):c.645T>C (p.Asp215=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1980952	NM_052865.4(MGME1):c.651T>C (p.Ser217=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1940364	NM_052865.4(MGME1):c.658C>T (p.Arg220Ter)	MGME1 (R140* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1368309	NM_052865.4(MGME1):c.659G>A (p.Arg220Gln)	MGME1 (R220Q +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1985171	NM_052865.4(MGME1):c.663T>C (p.Ala221=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1910770	NM_052865.4(MGME1):c.692T>C (p.Leu231Ser)	MGME1 (L151S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2295310	NM_052865.4(MGME1):c.702A>G (p.Ile234Met)	MGME1 (I154M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1435462	NM_052865.4(MGME1):c.707T>C (p.Leu236Pro)	MGME1 (L156P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2084682	NM_052865.4(MGME1):c.721G>A (p.Ala241Thr)	MGME1 (A161T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1938908	NM_052865.4(MGME1):c.726G>T (p.Glu242Asp)	MGME1 (E162D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2185796	NM_052865.4(MGME1):c.732-6C>G	MGME1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745222	NM_052865.4(MGME1):c.735C>T (p.Gly245=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 388699	NM_052865.4(MGME1):c.735C>G (p.Gly245=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1910391	NM_052865.4(MGME1):c.752_755del (p.Asp251fs)	MGME1 (D171fs +2 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 235425	NM_052865.4(MGME1):c.794C>T (p.Thr265Ile)	MGME1 (T280I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 1208499	NM_052865.4(MGME1):c.803A>T (p.Asn268Ile)	MGME1 (N188I +2 more)	Single nucleotide variant (missense variant +1 more)	MGME1-related condition +1 more	GBenign/Likely benign
Select item 715984	NM_052865.4(MGME1):c.807A>T (p.Pro269=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1911356	NM_052865.4(MGME1):c.818T>A (p.Val273Glu)	MGME1 (V273E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2061446	NM_052865.4(MGME1):c.842A>G (p.His281Arg)	MGME1 (H201R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 2829564	NM_052865.4(MGME1):c.843T>C (p.His281=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 262249	NM_052865.4(MGME1):c.846T>C (p.Asp282=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 512771	NM_052865.4(MGME1):c.849C>T (p.Thr283=)	MGME1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 2176837	NM_052865.4(MGME1):c.850A>G (p.Asn284Asp)	MGME1 (N204D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2005962	NM_052865.4(MGME1):c.857G>T (p.Ser286Ile)	MGME1 (S206I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1953152	NM_052865.4(MGME1):c.864+12G>A	MGME1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1932168	NM_052865.4(MGME1):c.864+16dup	MGME1	Duplication (intron variant)	not provided	GLikely benign
Select item 1975425	NM_052865.4(MGME1):c.864+15C>G	MGME1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 511813	NM_052865.4(MGME1):c.870A>G (p.Gln290=)	MGME1 (M173V)	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 2108596	NM_052865.4(MGME1):c.886G>A (p.Val296Met)	MGME1 (V296M +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1955920	NM_052865.4(MGME1):c.889G>A (p.Ala297Thr)	MGME1 (A297T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905655	NM_052865.4(MGME1):c.897A>C (p.Lys299Asn)	MGME1 (K299N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 708005	NM_052865.4(MGME1):c.901G>A (p.Gly301Arg)	MGME1 (W183* +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2197416	NM_052865.4(MGME1):c.913C>T (p.His305Tyr)	MGME1 (H225Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1963751	NM_052865.4(MGME1):c.927G>A (p.Met309Ile)	MGME1 (M309I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1904550	NM_052865.4(MGME1):c.937C>T (p.Leu313Phe)	MGME1 (A195V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2177017	NM_052865.4(MGME1):c.956C>T (p.Thr319Ile)	MGME1 (T239I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1707835	NM_052865.4(MGME1):c.971G>A (p.Arg324Gln)	MGME1 (R244Q +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2150505	NM_052865.4(MGME1):c.986C>T (p.Thr329Met)	MGME1 (T329M +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

<< First< Prev

Page of 2