Related gene-specific medical variations for Gene (Select 2332) - ClinVar

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Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2661591	NM_002024.6(FMR1):c.-98GGC[9]	LOC107032825, FMR1 +1 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2661590	NM_002024.6(FMR1):c.-102C>A	FMR1, FRAXA +2 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2661589	NM_002024.6(FMR1):c.-99_-94del	LOC107032825, LOC129929053 +2 more	Deletion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2661588	NM_002024.6(FMR1):c.-110_-103GGC[2]GGAGGCGGCGG[1]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2661587	NM_002024.6(FMR1):c.-117C>A	FMR1, FRAXA +2 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2579107	NM_002024.6(FMR1):c.-111C>A	FMR1, FRAXA +2 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2441534	NM_002024.6(FMR1):c.1816C>T (p.Arg606Cys)	FMR1 (R560C +2 more)	Single nucleotide variant (synonymous variant +2 more)	not provided	GUncertain significance
Select item 2441533	NM_002024.6(FMR1):c.1126-2A>T	FMR1	Single nucleotide variant (splice acceptor variant +1 more)	not provided	GUncertain significance
Select item 2441532	NM_002024.6(FMR1):c.1832G>T (p.Arg611Leu)	FMR1 (R565L +4 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1701686	NM_002024.6(FMR1):c.413G>A (p.Arg138Gln)	FMR1 (R138Q)	Single nucleotide variant (missense variant +1 more)	Fragile X syndrome	GUncertain significance
Select item 1695320	NM_002024.6(FMR1):c.-99_-82del	FMR1, FRAXA +2 more	Deletion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1272795	NM_002024.6(FMR1):c.-98GGC[11]	FMR1, FRAXA +1 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1168103	NM_002024.6(FMR1):c.-129CGG[5]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1166634	NM_002024.6(FMR1):c.-129CGG[7]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1164648	NM_002024.6(FMR1):c.-129CGG[6]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 975230	NM_002024.6(FMR1):c.479C>T (p.Thr160Ile)	FMR1 (T160I)	Single nucleotide variant (missense variant +1 more)	Intellectual disability	GLikely benign
Select item 973210	NC_000023.10:g.146993570GGC[(?_45)]	FMR1, FMR1-AS1	Microsatellite	Fragile X syndrome	GBenign
Select item 973209	NC_000023.10:g.146993570GGC[(45_54)]	FMR1	Microsatellite	Fragile X syndrome	Gother
Select item 973208	NC_000023.10:g.146993570GGC[(55_200)]	FMR1	Microsatellite	Fragile X syndrome	Gother
Select item 795779	NM_002024.6(FMR1):c.-129CGG[8]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 794273	NM_002024.6(FMR1):c.-129CGG[12]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 793052	NM_002024.6(FMR1):c.-129CGG[15]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 766615	NM_002024.6(FMR1):c.-129CGG[17]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 766175	NM_002024.6(FMR1):c.-129_-100=	FMR1, FRAXA +2 more	Microsatellite (no sequence alteration +1 more)	not provided	GBenign
Select item 766072	NM_002024.6(FMR1):c.-129CGG[9]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 763962	NM_002024.6(FMR1):c.-129CGG[13]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 763160	NM_002024.6(FMR1):c.-129CGG[16]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 763079	NM_002024.6(FMR1):c.-129CGG[28]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 763001	NM_002024.6(FMR1):c.-129CGG[18]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762915	NM_002024.6(FMR1):c.-129CGG[39]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762898	NM_002024.6(FMR1):c.-129CGG[21]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762842	NM_002024.6(FMR1):c.-129CGG[43]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762841	NM_002024.6(FMR1):c.-129CGG[34]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762827	NM_002024.6(FMR1):c.-129CGG[25]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762804	NM_002024.6(FMR1):c.-129CGG[14]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762791	NM_002024.6(FMR1):c.-129CGG[19]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762766	NM_002024.6(FMR1):c.-129CGG[44]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762764	NM_002024.6(FMR1):c.-129CGG[24]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762640	NM_002024.6(FMR1):c.-129CGG[27]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762636	NM_002024.6(FMR1):c.-129CGG[26]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762634	NM_002024.6(FMR1):c.-129CGG[41]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762626	NM_002024.6(FMR1):c.-129CGG[22]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762625	NM_002024.6(FMR1):c.-129CGG[38]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762367	NM_002024.6(FMR1):c.-129CGG[36]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762365	NM_002024.6(FMR1):c.-129CGG[40]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762358	NM_002024.6(FMR1):c.-129CGG[32]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762343	NM_002024.6(FMR1):c.-129CGG[33]	LOC107032825, FMR1 +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 762341	NM_002024.6(FMR1):c.-129CGG[35]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 761225	NM_002024.6(FMR1):c.-129CGG[42]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 761197	NM_002024.6(FMR1):c.-129CGG[20]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 761004	NM_002024.6(FMR1):c.-129CGG[37]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 761003	NM_002024.6(FMR1):c.-129CGG[30]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 761002	NM_002024.6(FMR1):c.-129CGG[29]	LOC107032825, FMR1 +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 760974	NM_002024.6(FMR1):c.-129CGG[23]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 760968	NM_002024.6(FMR1):c.-129CGG[31]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 752727	NM_002024.6(FMR1):c.-129CGG[11]	LOC129929053, FMR1 +2 more	Microsatellite (5 prime UTR variant +1 more)	not provided	GBenign
Select item 623468	NM_002024.6(FMR1):c.-128GGC[200_?]	FMR1, FMR1-AS1	Microsatellite	Fragile X syndrome	GPathogenic
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 specified +5 more	GBenign/Likely benign
Select item 183388	NC_000023.9:g.146703942_146820448del	FMR1	Deletion	Fragile X syndrome	GPathogenic
Select item 183387	NM_002024.6(FMR1):c.-129CGG[201]	FMR1, FRAXA +2 more	Microsatellite (5 prime UTR variant +1 more)	Fragile X syndrome	GPathogenic
Select item 57461	GRCh38/hg38 Xq27.3(chrX:147933767-147951004)x0	FMR1	Copy number loss	See cases	GPathogenic
Select item 9972	NM_002024.6:c.-128GGM[55_?]	FMR1	Microsatellite	Fragile X syndrome +2 more	GPathogenic

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Links from Gene

Items: 63