ClinVar for MedGen (Select 61234) - ClinVar

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Items: 61

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 25785441.	NM_004463.3(FGD1):c.2501dup (p.Gly835fs) GRCh37: ChrX:54473822-54473823 GRCh38: ChrX:54447389-54447390	FGD1, TSR2	G835fs	Aarskog syndrome	Likely pathogenic (Aug 20, 2023)	criteria provided, single submitter
Select item 25785342.	NM_004463.3(FGD1):c.1197C>A (p.Phe399Leu) GRCh37: ChrX:54494360 GRCh38: ChrX:54467927	FGD1	F399L	Aarskog syndrome	Uncertain significance (Feb 24, 2023)	criteria provided, single submitter
Select item 25785333.	NM_004463.3(FGD1):c.2611A>G (p.Ile871Val) GRCh37: ChrX:54472817 GRCh38: ChrX:54446384	FGD1, TSR2	I871V	Aarskog syndrome	Uncertain significance (Feb 24, 2023)	criteria provided, single submitter
Select item 25725804.	NM_004463.3(FGD1):c.1409A>G (p.Tyr470Cys) GRCh37: ChrX:54492217 GRCh38: ChrX:54465784	FGD1	Y470C	Aarskog syndrome	Uncertain significance	criteria provided, single submitter
Select item 24418115.	NM_004463.3(FGD1):c.2380G>A (p.Gly794Arg) GRCh37: ChrX:54475295 GRCh38: ChrX:54448862	FGD1	G794R	Aarskog syndrome	Uncertain significance (Nov 2, 2022)	criteria provided, single submitter
Select item 24414116.	NM_004463.3(FGD1):c.2561A>G (p.Tyr854Cys) GRCh37: ChrX:54473763 GRCh38: ChrX:54447330	FGD1, TSR2	Y854C	Aarskog syndrome	Uncertain significance (May 1, 2020)	criteria provided, single submitter
Select item 24414107.	NM_004463.3(FGD1):c.2154G>A (p.Val718=) GRCh37: ChrX:54475696 GRCh38: ChrX:54449263	FGD1		Aarskog syndrome	Uncertain significance (Sep 19, 2019)	criteria provided, single submitter
Select item 24414098.	NM_004463.3(FGD1):c.1432G>A (p.Val478Met) GRCh37: ChrX:54492194 GRCh38: ChrX:54465761	FGD1	V478M	Aarskog syndrome	Uncertain significance (Sep 10, 2021)	criteria provided, single submitter
Select item 24414089.	NM_004463.3(FGD1):c.2803A>G (p.Arg935Gly) GRCh37: ChrX:54472625 GRCh38: ChrX:54446192	FGD1, TSR2	R935G	Aarskog syndrome	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 244140710.	NM_004463.3(FGD1):c.486C>A (p.Pro162=) GRCh37: ChrX:54497189 GRCh38: ChrX:54470756	FGD1		Aarskog syndrome	Uncertain significance (May 30, 2022)	criteria provided, single submitter
Select item 244140611.	NM_004463.3(FGD1):c.2873G>A (p.Arg958Gln) GRCh37: ChrX:54472555 GRCh38: ChrX:54446122	FGD1, TSR2	R958Q	Aarskog syndrome	Uncertain significance (Aug 31, 2019)	criteria provided, single submitter
Select item 244024712.	NM_004463.3(FGD1):c.1966_1976del (p.Arg656fs) GRCh37: ChrX:54481920-54481930 GRCh38: ChrX:54455487-54455497	FGD1	R656fs	Aarskog syndrome	Likely pathogenic (May 13, 2022)	criteria provided, single submitter
Select item 180410913.	NM_004463.3(FGD1):c.1500G>A (p.Lys500=) GRCh37: ChrX:54492020 GRCh38: ChrX:54465587	FGD1		Aarskog syndrome	Uncertain significance (Dec 8, 2022)	criteria provided, single submitter
Select item 170973614.	NM_004463.3(FGD1):c.2514G>A (p.Trp838Ter) GRCh37: ChrX:54473810 GRCh38: ChrX:54447377	FGD1, TSR2	W838*	Aarskog syndrome	Likely pathogenic (Aug 19, 2022)	criteria provided, single submitter
Select item 170664315.	NM_004463.3(FGD1):c.1345C>T (p.Arg449Cys) GRCh37: ChrX:54492281 GRCh38: ChrX:54465848	FGD1	R449C	Aarskog syndrome	Likely benign	criteria provided, single submitter
Select item 170542716.	NM_004463.3(FGD1):c.2656A>T (p.Arg886Ter) GRCh37: ChrX:54472772 GRCh38: ChrX:54446339	FGD1, TSR2	R886*	Aarskog syndrome	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 169948017.	NM_004463.3(FGD1):c.2282G>A (p.Cys761Tyr) GRCh37: ChrX:54475393 GRCh38: ChrX:54448960	FGD1	C761Y	Aarskog syndrome	Uncertain significance (Sep 2, 2022)	criteria provided, single submitter
Select item 167931418.	NM_004463.3(FGD1):c.1336G>T (p.Glu446Ter) GRCh37: ChrX:54494221 GRCh38: ChrX:54467788	FGD1	E446*	Aarskog syndrome	Likely pathogenic (Aug 1, 2021)	criteria provided, single submitter
Select item 130828219.	NM_004463.3(FGD1):c.2612T>C (p.Ile871Thr) GRCh37: ChrX:54472816 GRCh38: ChrX:54446383	FGD1, TSR2	I871T	Aarskog syndrome, not provided	Uncertain significance (Jul 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106543120.	NM_004463.3(FGD1):c.492G>T (p.Lys164Asn) GRCh37: ChrX:54497183 GRCh38: ChrX:54470750	FGD1	K164N	Aarskog syndrome	Uncertain significance (Aug 29, 2019)	criteria provided, single submitter
Select item 103142821.	NM_004463.3(FGD1):c.2017A>G (p.Thr673Ala) GRCh37: ChrX:54476733 GRCh38: ChrX:54450300	FGD1	T673A	Aarskog syndrome	Likely pathogenic (Oct 18, 2018)	criteria provided, single submitter
Select item 98277922.	NM_004463.3(FGD1):c.545del (p.Pro182fs) GRCh37: ChrX:54497130 GRCh38: ChrX:54470697	FGD1	P182fs	Aarskog syndrome	Pathogenic (Jan 1, 2019)	criteria provided, single submitter
Select item 98147523.	NM_004463.3(FGD1):c.367del (p.Ser122_Leu123insTer) GRCh37: ChrX:54497861 GRCh38: ChrX:54471428	FGD1		Aarskog syndrome	Pathogenic (Jul 20, 2018)	no assertion criteria provided
Select item 98147424.	NM_004463.3(FGD1):c.1422del (p.Phe474fs) GRCh37: ChrX:54492204 GRCh38: ChrX:54465771	FGD1	F474fs	Aarskog syndrome	Pathogenic (May 8, 2017)	no assertion criteria provided
Select item 93196825.	NM_004463.3(FGD1):c.1695+1G>A GRCh37: ChrX:54482941 GRCh38: ChrX:54456508	FGD1		Aarskog syndrome	Pathogenic (Nov 14, 2018)	criteria provided, single submitter
Select item 93163626.	NM_004463.3(FGD1):c.1035GGA[3] (p.Glu350del) GRCh37: ChrX:54496504-54496506 GRCh38: ChrX:54470071-54470073	FGD1	E350del	Aarskog syndrome	Uncertain significance (Mar 6, 2020)	criteria provided, single submitter
Select item 86944527.	NM_004463.3(FGD1):c.679del (p.Ser227fs) GRCh37: ChrX:54496871 GRCh38: ChrX:54470438	FGD1	S227fs	Aarskog syndrome	Pathogenic (Nov 20, 2019)	criteria provided, single submitter
Select item 80773128.	NM_004463.3(FGD1):c.1811A>G (p.Asn604Ser) GRCh37: ChrX:54482684 GRCh38: ChrX:54456251	FGD1	N604S	Aarskog syndrome, not provided	Uncertain significance (Apr 1, 2020)	criteria provided, multiple submitters, no conflicts
Select item 80401429.	NM_004463.3(FGD1):c.386G>A (p.Gly129Asp) GRCh37: ChrX:54497842 GRCh38: ChrX:54471409	FGD1	G129D	Aarskog syndrome	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 80401330.	NM_004463.3(FGD1):c.437A>G (p.Gln146Arg) GRCh37: ChrX:54497791 GRCh38: ChrX:54471358	FGD1	Q146R	Aarskog syndrome	Uncertain significance (May 28, 2019)	criteria provided, single submitter
Select item 80401231.	NM_004463.3(FGD1):c.1452G>A (p.Trp484Ter) GRCh37: ChrX:54492174 GRCh38: ChrX:54465741	FGD1	W484*	Aarskog syndrome	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 80401132.	NM_004463.3(FGD1):c.1843-1G>A GRCh37: ChrX:54482218 GRCh38: ChrX:54455785	FGD1		Aarskog syndrome	Pathogenic (May 28, 2019)	criteria provided, single submitter
Select item 69468633.	NM_004463.3(FGD1):c.1590T>A (p.Tyr530Ter) GRCh37: ChrX:54491930 GRCh38: ChrX:54465497	FGD1	Y530*	Aarskog syndrome	Pathogenic	criteria provided, single submitter
Select item 69467934.	NM_004463.3(FGD1):c.1143_1145del (p.Leu382del) GRCh37: ChrX:54495266-54495268 GRCh38: ChrX:54468833-54468835	FGD1	L382del	Aarskog syndrome	Pathogenic	criteria provided, single submitter
Select item 54797935.	NM_004463.3(FGD1):c.598C>T (p.Pro200Ser) GRCh37: ChrX:54497077 GRCh38: ChrX:54470644	FGD1	P200S	Aarskog syndrome	Uncertain significance (Jun 22, 2017)	criteria provided, single submitter
Select item 54737036.	NM_004463.3(FGD1):c.2728C>T (p.Arg910Ter) GRCh37: ChrX:54472700 GRCh38: ChrX:54446267	FGD1, TSR2	R910*	Aarskog syndrome	Pathogenic/Likely pathogenic (May 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 54736937.	NM_004463.3(FGD1):c.2006T>G (p.Leu669Arg) GRCh37: ChrX:54481890 GRCh38: ChrX:54455457	FGD1	L669R	Aarskog syndrome	Uncertain significance (Nov 1, 2016)	criteria provided, single submitter
Select item 54736838.	NM_004463.3(FGD1):c.1733T>C (p.Leu578Ser) GRCh37: ChrX:54482762 GRCh38: ChrX:54456329	FGD1	L578S	Aarskog syndrome	Uncertain significance (Nov 1, 2016)	criteria provided, single submitter
Select item 54736639.	NM_004463.3(FGD1):c.1445_1447dup (p.Asn482dup) GRCh37: ChrX:54492178-54492179 GRCh38: ChrX:54465745-54465746	FGD1		Aarskog syndrome	Uncertain significance (Nov 1, 2016)	criteria provided, single submitter
Select item 54736540.	NM_004463.3(FGD1):c.1241C>T (p.Pro414Leu) GRCh37: ChrX:54494316 GRCh38: ChrX:54467883	FGD1	P414L	not provided, Aarskog syndrome	Likely pathogenic (Oct 23, 2020)	criteria provided, multiple submitters, no conflicts
Select item 54736441.	NM_004463.3(FGD1):c.277dup (p.Tyr93fs) GRCh37: ChrX:54521588-54521589 GRCh38: ChrX:54495155-54495156	FGD1	Y93fs	Aarskog syndrome	Likely pathogenic (Nov 1, 2016)	criteria provided, single submitter
Select item 52126342.	NM_004463.3(FGD1):c.1328G>A (p.Arg443His) GRCh37: ChrX:54494229 GRCh38: ChrX:54467796	FGD1	R443H	Aarskog syndrome, Inborn genetic diseases, not provided	Likely pathogenic (May 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 48805743.	NM_004463.3(FGD1):c.892dup (p.Cys298fs) GRCh37: ChrX:54496657-54496658 GRCh38: ChrX:54470224-54470225	FGD1	C298fs	Aarskog syndrome	Likely pathogenic (Jun 1, 2017)	criteria provided, single submitter
Select item 37432944.	NM_004463.3(FGD1):c.527del (p.Pro176fs) GRCh37: ChrX:54497148 GRCh38: ChrX:54470715	FGD1	P176fs	Inborn genetic diseases, not provided, Aarskog syndrome	Pathogenic (Jul 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 28235245.	NM_004463.3(FGD1):c.2314G>A (p.Val772Ile) GRCh37: ChrX:54475361 GRCh38: ChrX:54448928	FGD1	V772I	Aarskog syndrome, not provided	Uncertain significance (Jun 5, 2019)	criteria provided, multiple submitters, no conflicts
Select item 25940446.	NM_004463.3(FGD1):c.659+27T>C GRCh37: ChrX:54496989 GRCh38: ChrX:54470556	FGD1		not provided, not specified, Aarskog syndrome	Benign (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 22465547.	NM_004463.3(FGD1):c.2761C>T (p.Arg921Ter) GRCh37: ChrX:54472667 GRCh38: ChrX:54446234	FGD1, TSR2	R921*	Aarskog syndrome, not provided	Conflicting interpretations of pathogenicity (Jan 17, 2023)	criteria provided, conflicting interpretations
Select item 19638948.	NM_004463.3(FGD1):c.527dup (p.Leu177fs) GRCh37: ChrX:54497147-54497148 GRCh38: ChrX:54470714-54470715	FGD1	L177fs	not provided, Aarskog syndrome	Pathogenic/Likely pathogenic (Sep 25, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9509249.	NM_004463.3(FGD1):c.395G>A (p.Arg132Gln) GRCh37: ChrX:54497833 GRCh38: ChrX:54471400	FGD1	R132Q	not specified, Inborn genetic diseases, not provided, Aarskog syndrome	Benign/Likely benign (Oct 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9507650.	NM_004463.3(FGD1):c.*36C>T GRCh37: ChrX:54472506 GRCh38: ChrX:54446073	FGD1, TSR2		not provided, not specified, Aarskog syndrome	Benign (Aug 10, 2021)	criteria provided, multiple submitters, no conflicts
Select item 2997451.	NM_004463.3(FGD1):c.1966C>T (p.Arg656Ter) GRCh37: ChrX:54481930 GRCh38: ChrX:54455497	FGD1	R656*	Aarskog syndrome	Pathogenic (Jan 3, 2022)	criteria provided, single submitter
Select item 1083452.	NM_004463.3(FGD1):c.1396A>G (p.Met466Val) GRCh37: ChrX:54492230 GRCh38: ChrX:54465797	FGD1	M466V	Aarskog syndrome	Pathogenic (Oct 1, 2007)	no assertion criteria provided
Select item 1083353.	NM_004463.3(FGD1):c.944dup (p.Ala316fs) GRCh37: ChrX:54496605-54496606 GRCh38: ChrX:54470172-54470173	FGD1	A316fs	Aarskog syndrome	Pathogenic (Jan 1, 2007)	no assertion criteria provided
Select item 1083254.	NM_004463.3(FGD1):c.1328G>T (p.Arg443Leu) GRCh37: ChrX:54494229 GRCh38: ChrX:54467796	FGD1	R443L	Aarskog syndrome	Pathogenic (Jun 15, 2006)	no assertion criteria provided
Select item 1083155.	NM_004463.3(FGD1):c.2192del (p.Lys731fs) GRCh37: ChrX:54475658 GRCh38: ChrX:54449225	FGD1	K731fs	Aarskog syndrome	Pathogenic (Jan 15, 2006)	no assertion criteria provided
Select item 1083056.	NM_004463.3(FGD1):c.1223G>A (p.Arg408Gln) GRCh37: ChrX:54494334 GRCh38: ChrX:54467901	FGD1	R408Q	Aarskog syndrome	Pathogenic (May 15, 2005)	no assertion criteria provided
Select item 1082857.	NM_004463.3(FGD1):c.935C>T (p.Pro312Leu) GRCh37: ChrX:54496615 GRCh38: ChrX:54470182	FGD1	P312L	not provided, Inborn genetic diseases	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 1082758.	NG_008054.1:g.(35701_?)_(?_50820)del	FGD1		Aarskog syndrome	Pathogenic (Nov 1, 2000)	no assertion criteria provided
Select item 1082659.	NM_004463.3(FGD1):c.1565G>A (p.Arg522His) GRCh37: ChrX:54491955 GRCh38: ChrX:54465522	FGD1	R522H	not provided	Likely pathogenic (Dec 15, 2022)	criteria provided, single submitter
Select item 1082560.	NM_004463.3(FGD1):c.1829G>A (p.Arg610Gln) GRCh37: ChrX:54482666 GRCh38: ChrX:54456233	FGD1	R610Q	not provided	Pathogenic (Jun 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 1082461.	NM_004463.3(FGD1):c.1392dup (p.Lys465fs) GRCh37: ChrX:54492233-54492234 GRCh38: ChrX:54465800-54465801	FGD1	K465fs	Aarskog syndrome	Pathogenic (Nov 18, 1994)	no assertion criteria provided

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Items: 61