"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "MCM9"[g - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 774185	NM_017696.3(MCM9):c.3286A>G (p.Met1096Val)	MCM9 (M1096V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely benign
Select item 782477	NM_017696.3(MCM9):c.3223C>T (p.Pro1075Ser)	MCM9 (P1075S +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 782998	NM_017696.3(MCM9):c.2901G>A (p.Pro967=)	MCM9	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 733900	NM_017696.3(MCM9):c.2818C>A (p.His940Asn)	MCM9 (H940N +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 745366	NM_017696.3(MCM9):c.2544G>T (p.Leu848=)	MCM9	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 709231	NM_017696.3(MCM9):c.2448A>C (p.Glu816Asp)	MCM9 (E816D +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 771865	NM_017696.3(MCM9):c.1974G>T (p.Gln658His)	MCM9 (Q658H +4 more)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 713459	NM_017696.3(MCM9):c.1676G>A (p.Arg559Gln)	MCM9 (R559Q +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 789002	NM_017696.3(MCM9):c.1521A>T (p.Glu507Asp)	MCM9 (E507D +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 727799	NM_017696.3(MCM9):c.1329C>T (p.Leu443=)	MCM9	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 789184	NM_017696.3(MCM9):c.1272G>A (p.Arg424=)	MCM9	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 619064	NM_017696.3(MCM9):c.911A>G (p.Asn304Ser)	MCM9 (N304S +1 more)	Single nucleotide variant (missense variant +2 more)	Premature ovarian failure +1 more	GLikely benign
Select item 782478	NM_017696.3(MCM9):c.750C>T (p.Pro250=)	MCM9	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 726323	NM_017696.3(MCM9):c.572C>T (p.Ser191Leu)	MCM9 (S191L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 776151	NM_017696.3(MCM9):c.397A>G (p.Thr133Ala)	MCM9 (T133A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 790585	NM_017696.3(MCM9):c.213T>C (p.Ser71=)	MCM9	Single nucleotide variant (synonymous variant +2 more)	not provided	GBenign
Select item 2427242	NC_000006.11:g.(?_116441236)_(119252888_?)del	ASF1A, CALHM4 +24 more	Deletion	Congenital disorder of glycosylation, type IAA	GPathogenic