"GeneDx"[submitter] AND "MGME1"[gene] - ClinVar

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Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 1329826	NM_052865.4(MGME1):c.-98C>T	MGME1	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1213093	NM_052865.4(MGME1):c.-59-122C>T	LOC126862983, MGME1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196344	NM_052865.4(MGME1):c.-59-107T>G	LOC126862983, MGME1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2662636	NM_052865.4(MGME1):c.12G>C (p.Lys4Asn)	LOC126862983, MGME1 (K4N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 380041	NM_052865.4(MGME1):c.43A>T (p.Ser15Cys)	LOC126862983, MGME1 (S15C)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 235686	NM_052865.4(MGME1):c.86C>G (p.Ser29Cys)	LOC126862983, MGME1 (S29C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 385442	NM_052865.4(MGME1):c.114G>A (p.Lys38=)	MGME1, LOC126862983	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 711756	NM_052865.4(MGME1):c.242C>G (p.Pro81Arg)	LOC126862983, MGME1 (P81R)	Single nucleotide variant (missense variant)	not provided +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 provided +1 more	GBenign
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 1301200	NM_052865.4(MGME1):c.448G>A (p.Glu150Lys)	LOC126862983, MGME1 (E150K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1247663	NM_052865.4(MGME1):c.511+124G>C	LOC126862983, MGME1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1228534	NM_052865.4(MGME1):c.512-137C>G	MGME1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208802	NM_052865.4(MGME1):c.512-116del	MGME1	Deletion (intron variant)	not provided	GLikely benign
Select item 1218912	NM_052865.4(MGME1):c.512-120A>G	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 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 1204680	NM_052865.4(MGME1):c.563_564delinsT (p.Ser188fs)	MGME1 (S108fs +2 more)	Indel (frameshift 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 2579909	NM_052865.4(MGME1):c.626T>C (p.Val209Ala)	MGME1 (V129A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1293209	NM_052865.4(MGME1):c.731+34G>A	MGME1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1196288	NM_052865.4(MGME1):c.732-261_732-260del	MGME1	Deletion (intron variant)	not provided	GLikely benign
Select item 684256	NM_052865.4(MGME1):c.732-261G>A	MGME1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1220435	NM_052865.4(MGME1):c.732-246G>T	MGME1	Single nucleotide variant (intron variant)	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 1800621	NM_052865.4(MGME1):c.761C>T (p.Thr254Ile)	MGME1 (T174I +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1802061	NM_052865.4(MGME1):c.784A>G (p.Ile262Val)	MGME1 (I182V +2 more)	Single nucleotide variant (missense 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)	Mitochondrial DNA depletion syndrome 11 +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)	not provided	GBenign/Likely benign
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 3340247	NM_052865.4(MGME1):c.846T>A (p.Asp282Glu)	MGME1 (D202E +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 684258	NM_052865.4(MGME1):c.864+270C>T	MGME1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233104	NM_052865.4(MGME1):c.865-222dup	MGME1	Duplication (intron variant)	not provided	GBenign
Select item 1214771	NM_052865.4(MGME1):c.865-222del	MGME1	Deletion (intron variant)	not provided	GLikely benign
Select item 1195214	NM_052865.4(MGME1):c.865-159G>T	MGME1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1187953	NM_052865.4(MGME1):c.865-158T>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 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 1297413	NM_052865.4(MGME1):c.*124G>T	MGME1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1274888	NM_052865.4(MGME1):c.301_303dup	MGME1	Duplication (3 prime UTR variant)	not provided	GBenign
Select item 1296545	NM_052865.4(MGME1):c.*314del	MGME1	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1212426	NM_052865.4(MGME1):c.303_304insTG	MGME1	Insertion (3 prime UTR variant)	not provided	GLikely benign
Select item 253647	GRCh37/hg19 20p13-11.1(chr20:80198-26075841)x3	ABHD12, ACSS1 +176 more	Copy number gain	See cases	GPathogenic
Select item 253408	GRCh37/hg19 20p12.1-q11.21(chr20:17705775-31600738)x3	CCM2L, CD93 +89 more	Copy number gain	See cases	GPathogenic

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Items: 49