POF1 - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 156586	NM_017696.3(MCM9):c.1533C>A (p.Tyr511Ter)	MCM9 (Y511* +2 more)	Single nucleotide variant (nonsense +2 more)	Premature ovarian failure 1	Gnot provided
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 167875	NM_001080413.3(NOBOX):c.349C>T (p.Arg117Trp)	NOBOX (R117W)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 623467	NM_002024.6(FMR1):c.-128GGC[55_200]	FMR1, FRAXA +2 more	Microsatellite	Fragile X-associated tremor/ataxia syndrome +1 more	GPathogenic
Select item 587984	NM_002024.6(FMR1):c.18G>T (p.Val6=)	LOC107032825, FMR1	Single nucleotide variant (synonymous variant +1 more)	Inborn genetic diseases +5 more	GBenign/Likely benign
Select item 94023	NM_002024.6(FMR1):c.414G>A (p.Arg138=)	FMR1	Single nucleotide variant (synonymous variant +1 more)	Fragile X syndrome +5 more	GBenign
Select item 129104	NM_002024.6(FMR1):c.433G>T (p.Ala145Ser)	FMR1 (A145S)	Single nucleotide variant (missense variant +1 more)	Fragile X-associated tremor/ataxia syndrome +5 more	GBenign
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 9972	NM_002024.6:c.-128GGM[55_?]	FMR1	Microsatellite	Fragile X syndrome +2 more	GPathogenic