ClinVar for MedGen (Select 333403) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1801489	NM_002024.6(FMR1):c.1622_1636del (p.Gln541_Gly545del)	FMR1	Deletion (inframe_deletion +1 more)	Fragile X-associated tremor/ataxia syndrome	GLikely pathogenic
Select item 1701686	NM_002024.6(FMR1):c.413G>A (p.Arg138Gln)	FMR1 (R138Q)	Single nucleotide variant (missense variant +1 more)	Fragile X syndrome +3 more	GUncertain significance
Select item 766072	NM_002024.6(FMR1):c.-129CGG[9]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
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=)	FMR1, LOC107032825	Single nucleotide variant (synonymous variant +1 more)	not provided +5 more	GBenign/Likely benign
Select item 521313	NM_002024.6(FMR1):c.1580G>A (p.Arg527His)	FMR1 (R527H +4 more)	Single nucleotide variant (missense variant +1 more)	Fragile X syndrome +3 more	GUncertain significance
Select item 129104	NM_002024.6(FMR1):c.433G>T (p.Ala145Ser)	FMR1 (A145S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 more	GBenign
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 9972	NM_002024.6:c.-128GGM[55_?]	FMR1	Microsatellite	Fragile X-associated tremor/ataxia syndrome +2 more	GPathogenic