ClinVar for MedGen (Select 8912) - ClinVar

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Items: 29

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25801551.	NM_002024.6(FMR1):c.1691G>A (p.Arg564His) GRCh37: ChrX:147027090 GRCh38: ChrX:147945570	FMR1	R518H, R543H, R564H, V453I, V474I	Fragile X syndrome	Uncertain significance (Jun 21, 2023)	criteria provided, single submitter
Select item 18025762.	NM_002024.6(FMR1):c.1325G>A (p.Arg442Gln) GRCh37: ChrX:147024700 GRCh38: ChrX:147943180	FMR1	R421Q, R442Q	not specified, not provided, Fragile X syndrome	Conflicting interpretations of pathogenicity (Jun 9, 2023)	criteria provided, conflicting interpretations
Select item 17082273.	NM_002024.6(FMR1):c.1268_1269del (p.Tyr423fs) GRCh37: ChrX:147022173-147022174 GRCh38: ChrX:147940654-147940655	FMR1	Y402fs, Y423fs	Fragile X syndrome	Likely pathogenic (Oct 4, 2022)	criteria provided, single submitter
Select item 17016864.	NM_002024.6(FMR1):c.413G>A (p.Arg138Gln) GRCh37: ChrX:147010319 GRCh38: ChrX:147928801	FMR1	R138Q	Fragile X syndrome	Uncertain significance (Oct 1, 2021)	criteria provided, single submitter
Select item 16988345.	NM_002024.6(FMR1):c.1831C>T (p.Arg611Cys) GRCh37: ChrX:147030296 GRCh38: ChrX:147948776	FMR1	R565C, R590C, R611C	Fragile X syndrome	Uncertain significance (May 12, 2021)	criteria provided, single submitter
Select item 16767866.	NM_002024.6(FMR1):c.786T>G (p.Phe262Leu) GRCh37: ChrX:147014099 GRCh38: ChrX:147932580	FMR1	F262L	Fragile X syndrome	Uncertain significance (Mar 29, 2022)	criteria provided, single submitter
Select item 12727957.	NM_002024.6(FMR1):c.-98GGC[11] GRCh37: ChrX:146993599-146993600 GRCh38: ChrX:147912081-147912082	FMR1, FRAXA, LOC107032825		not provided	Benign (Jun 18, 2021)	criteria provided, single submitter
Select item 10279888.	NM_002024.6(FMR1):c.1282G>C (p.Asp428His) GRCh37: ChrX:147024657 GRCh38: ChrX:147943137	FMR1	D407H, D428H	Fragile X syndrome	Uncertain significance (Feb 13, 2020)	criteria provided, single submitter
Select item 10279879.	NM_002024.6(FMR1):c.1184G>A (p.Trp395Ter) GRCh37: ChrX:147019676 GRCh38: ChrX:147938157	FMR1	W395*	Fragile X syndrome	Likely pathogenic (Jun 8, 2020)	criteria provided, single submitter
Select item 97321010.	NC_000023.10:g.146993570GGC[(?_45)] GRCh37: ChrX:146993570	FMR1, FMR1-AS1		Fragile X syndrome	Benign (Mar 19, 2013)	practice guideline
Select item 97320911.	NC_000023.10:g.146993570GGC[(45_54)]	FMR1		Fragile X syndrome	other (Mar 19, 2013)	practice guideline
Select item 97320812.	NC_000023.10:g.146993570GGC[(55_200)]	FMR1		Fragile X syndrome	other (Mar 19, 2013)	practice guideline
Select item 80409213.	NM_002024.6(FMR1):c.*746T>C GRCh37: ChrX:147031110 GRCh38: ChrX:147949590	FMR1		Fragile X syndrome	Benign (May 28, 2019)	criteria provided, single submitter
Select item 80409114.	NM_002024.6(FMR1):c.357A>C (p.Lys119Asn) GRCh37: ChrX:147010263 GRCh38: ChrX:147928745	FMR1	K119N	Fragile X syndrome	Likely benign (May 28, 2019)	criteria provided, single submitter
Select item 62346815.	NM_002024.6(FMR1):c.-128GGC[200_?] GRCh37: ChrX:146993570	FMR1, FMR1-AS1		Fragile X syndrome	Pathogenic (Mar 19, 2013)	practice guideline
Select item 58798416.	NM_002024.6(FMR1):c.18G>T (p.Val6=) GRCh37: ChrX:146993715 GRCh38: ChrX:147912197	FMR1, LOC107032825		Inborn genetic diseases, Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Premature ovarian failure 1, not specified	Benign/Likely benign (Aug 17, 2021)	criteria provided, multiple submitters, no conflicts
Select item 44482617.	NM_002024.6(FMR1):c.818A>G (p.Lys273Arg) GRCh37: ChrX:147014220 GRCh38: ChrX:147932701	FMR1	K273R	not provided, Inborn genetic diseases, Fragile X syndrome	Benign/Likely benign (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 24292318.	NC_000006.11:g.146735206_147036914del301709 GRCh37: Chr6:146735206-147036914 GRCh38: Chr6:146414070-146715778	ADGB, ADGB-DT, GRM1, LOC114004398, LOC129997388, RAB32		Fragile X syndrome	Pathogenic (Apr 23, 2013)	no assertion criteria provided
Select item 21102719.	NM_002024.6(FMR1):c.1572C>T (p.Ser524=) GRCh37: ChrX:147026489 GRCh38: ChrX:147944969	FMR1	A434V, A413V	not specified, Inborn genetic diseases	Benign/Likely benign (Jun 8, 2016)	criteria provided, multiple submitters, no conflicts
Select item 18338820.	NC_000023.9:g.146703942_146820448del	FMR1		Fragile X syndrome	Pathogenic (Jun 5, 2014)	no assertion criteria provided
Select item 18338721.	NM_002024.6(FMR1):c.-129CGG[201] GRCh37: ChrX:146993570-146993572 GRCh38: ChrX:147912049-147912050	FMR1, FRAXA, LOC107032825, LOC129929053		Fragile X syndrome	Pathogenic (Jun 5, 2014)	no assertion criteria provided
Select item 12910422.	NM_002024.6(FMR1):c.433G>T (p.Ala145Ser) GRCh37: ChrX:147011480 GRCh38: ChrX:147929961	FMR1	A145S	Inborn genetic diseases, not specified, Fragile X-associated tremor/ataxia syndrome, Premature ovarian failure 1, Fragile X syndrome	Benign (Apr 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9402523.	NM_002024.6(FMR1):c.990+14C>T GRCh37: ChrX:147018146 GRCh38: ChrX:147936627	FMR1		not specified, not provided	Benign (Jun 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 9402324.	NM_002024.6(FMR1):c.414G>A (p.Arg138=) GRCh37: ChrX:147010320 GRCh38: ChrX:147928802	FMR1		Inborn genetic diseases, not specified, Fragile X syndrome, Premature ovarian failure 1, Fragile X-associated tremor/ataxia syndrome, not provided	Benign (Nov 3, 2021)	criteria provided, multiple submitters, no conflicts
Select item 2998725.	NM_002024.6(FMR1):c.80C>A (p.Ser27Ter) GRCh37: ChrX:147003479 GRCh38: ChrX:147921961	FMR1	S27*	Fragile X syndrome	Pathogenic (Apr 1, 2011)	no assertion criteria provided
Select item 997226.	NM_002024.6:c.-128GGM[55_?]	FMR1		Fragile X syndrome, Fragile X-associated tremor/ataxia syndrome, Premature ovarian failure 1	Pathogenic (Jul 10, 2001)	no assertion criteria provided
Select item 997127.	NM_002024.6(FMR1):c.52-1_52delinsTA GRCh37: ChrX:147003450-147003451 GRCh38: ChrX:147921932-147921933	FMR1		Fragile X syndrome	Pathogenic (Aug 1, 1995)	no assertion criteria provided
Select item 997028.	NM_002024.6(FMR1):c.373del (p.Thr125fs) GRCh37: ChrX:147010279 GRCh38: ChrX:147928761	FMR1	T125fs	Fragile X syndrome	Pathogenic (Aug 1, 1995)	no assertion criteria provided
Select item 996929.	NM_002024.6(FMR1):c.911T>A (p.Ile304Asn) GRCh37: ChrX:147018053 GRCh38: ChrX:147936534	FMR1	I304N	Fragile X syndrome	Pathogenic (Oct 15, 2008)	no assertion criteria provided

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Items: 29