ClinVar for MedGen (Select 863846) - ClinVar - NCBI

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

Links from MedGen

Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254813	NM_017696.3(MCM9):c.672_673delinsC (p.Glu225fs)	MCM9 (E159fs +1 more)	Indel (frameshift variant +1 more)	46,XX ovarian dysgenesis-short stature syndrome	GPathogenic
Select item 3254812	NM_017696.3(MCM9):c.1529-7C>G	MCM9	Single nucleotide variant (intron variant)	46,XX ovarian dysgenesis-short stature syndrome	GLikely pathogenic
Select item 1709346	NM_017696.3(MCM9):c.1151-1G>A	MCM9	Single nucleotide variant (splice acceptor variant)	46,XX ovarian dysgenesis-short stature syndrome	GLikely pathogenic
Select item 1321160	NM_017696.3(MCM9):c.1673G>C (p.Cys558Ser)	MCM9 (C492S +2 more)	Single nucleotide variant (missense variant +2 more)	46,XX ovarian dysgenesis-short stature syndrome	GBenign
Select item 1299227	NM_017696.3(MCM9):c.503G>A (p.Arg168Gln)	MCM9 (R102Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 812138	NM_017696.3(MCM9):c.220C>T (p.Arg74Ter)	MCM9 (R74*)	Single nucleotide variant (nonsense +2 more)	46,XX ovarian dysgenesis-short stature syndrome	GUncertain significance
Select item 789184	NM_017696.3(MCM9):c.1272G>A (p.Arg424=)	MCM9	Single nucleotide variant (synonymous variant)	46,XX ovarian dysgenesis-short stature syndrome +1 more	GBenign/Likely benign
Select item 417973	NM_017696.3(MCM9):c.1483G>T (p.Glu495Ter)	MCM9 (E495* +2 more)	Single nucleotide variant (nonsense +1 more)	46,XX ovarian dysgenesis-short stature syndrome	GPathogenic
Select item 156588	NM_017696.3(MCM9):c.394C>T (p.Arg132Ter)	MCM9 (R132* +1 more)	Single nucleotide variant (nonsense +1 more)	Non-obstructive azoospermia +1 more	GPathogenic/Likely pathogenic
Select item 156587	NM_017696.3(MCM9):c.1732+2T>C	MCM9	Single nucleotide variant (splice donor variant +1 more)	Premature ovarian failure 1 +1 more	GPathogenic