"GeneDx"[submitter] AND "LOC126862983"[gene] - ClinVar - NCBI

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Items: 13

	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 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