ClinVar for MedGen (Select 1778114) - ClinVar

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Items: 34

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24126961.	NM_012414.4(RAB3GAP2):c.2287_2291del (p.Ala762_Gly763insTer) GRCh37: Chr1:220355618-220355622 GRCh38: Chr1:220182276-220182280	RAB3GAP2		Martsolf syndrome 1	Likely pathogenic (Jan 25, 2023)	criteria provided, single submitter
Select item 18053982.	NM_012414.4(RAB3GAP2):c.1434G>C (p.Trp478Cys) GRCh37: Chr1:220364463 GRCh38: Chr1:220191121	RAB3GAP2	W478C	Martsolf syndrome 1	Uncertain significance (Mar 31, 2022)	criteria provided, single submitter
Select item 18053913.	NM_012414.4(RAB3GAP2):c.574A>G (p.Thr192Ala) GRCh37: Chr1:220383768 GRCh38: Chr1:220210426	RAB3GAP2	T192A	Inborn genetic diseases, Martsolf syndrome 1, not provided	Uncertain significance (Dec 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 16799264.	NM_004491.5(ARHGAP35):c.3992C>T (p.Pro1331Leu) GRCh37: Chr19:47492888 GRCh38: Chr19:46989631	ARHGAP35	P1331L	Martsolf syndrome 1	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 16799255.	NM_004491.5(ARHGAP35):c.3850C>T (p.Arg1284Trp) GRCh37: Chr19:47491269 GRCh38: Chr19:46988012	ARHGAP35	R1284W	Martsolf syndrome 1	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 16799246.	NM_004491.5(ARHGAP35):c.1800_1803del (p.Val601fs) GRCh37: Chr19:47423730-47423733 GRCh38: Chr19:46920473-46920476	ARHGAP35	V601fs	Martsolf syndrome 1	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 16799237.	NM_004491.5(ARHGAP35):c.516del (p.Asn173fs) GRCh37: Chr19:47422447 GRCh38: Chr19:46919190	ARHGAP35	N173fs	Martsolf syndrome 1	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 16799228.	NM_004491.5(ARHGAP35):c.352A>T (p.Lys118Ter) GRCh37: Chr19:47422284 GRCh38: Chr19:46919027	ARHGAP35	K118*	Martsolf syndrome 1	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 16799219.	NM_004491.5(ARHGAP35):c.345del (p.Tyr116fs) GRCh37: Chr19:47422275 GRCh38: Chr19:46919018	ARHGAP35	Y116fs	Martsolf syndrome 1	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 167992010.	NM_004491.5(ARHGAP35):c.325C>T (p.Arg109Ter) GRCh37: Chr19:47422257 GRCh38: Chr19:46919000	ARHGAP35	R109*	Martsolf syndrome 1	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 167991911.	NM_006086.4(TUBB3):c.1031G>A (p.Trp344Ter) GRCh37: Chr16:90001890 GRCh38: Chr16:89935482	TUBB3	W272, W344	Martsolf syndrome 1	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 167991812.	NM_175737.4(KLB):c.878A>T (p.Lys293Met) GRCh37: Chr4:39435882 GRCh38: Chr4:39434262	KLB	K293M	Martsolf syndrome 1	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 167991713.	NM_175737.4(KLB):c.3086A>T (p.Lys1029Ile) GRCh37: Chr4:39450257 GRCh38: Chr4:39448637	KLB	K1029I	Martsolf syndrome 1	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 167991614.	NM_178822.5(IGSF10):c.182G>A (p.Arg61His) GRCh37: Chr3:151176316 GRCh38: Chr3:151458528	IGSF10	R61H	Inborn genetic diseases, Martsolf syndrome 1	Uncertain significance (Feb 16, 2023)	criteria provided, multiple submitters, no conflicts
Select item 167991515.	NM_023110.3(FGFR1):c.2182G>A (p.Glu728Lys) GRCh37: Chr8:38271674 GRCh38: Chr8:38414156	FGFR1	E635K, E637K, E639K, E718K, E724K, E726K, E728K, E759K	Martsolf syndrome 1, Hypogonadotropic hypogonadism 2 with or without anosmia	Uncertain significance (May 4, 2023)	criteria provided, single submitter
Select item 167991416.	NM_001030055.2(ARHGAP5):c.1504del (p.Tyr502fs) GRCh37: Chr14:32561374 GRCh38: Chr14:32092168	ARHGAP5	Y502fs	Martsolf syndrome 1	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 167991317.	NM_004491.5(ARHGAP35):c.3569_3570del (p.Glu1190fs) GRCh37: Chr19:47425499-47425500 GRCh38: Chr19:46922242-46922243	ARHGAP35	E1190fs	Martsolf syndrome 1	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 167991218.	NM_001030055.2(ARHGAP5):c.2366dup (p.Phe790fs) GRCh37: Chr14:32562239-32562240 GRCh38: Chr14:32093033-32093034	ARHGAP5	F790fs	Martsolf syndrome 1	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 167991119.	NM_004491.5(ARHGAP35):c.4018G>A (p.Asp1340Asn) GRCh37: Chr19:47492914 GRCh38: Chr19:46989657	ARHGAP35	D1340N	Martsolf syndrome 1	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 167991020.	NM_004491.5(ARHGAP35):c.4255C>T (p.Arg1419Cys) GRCh37: Chr19:47503700 GRCh38: Chr19:47000443	ARHGAP35	R1419C	Martsolf syndrome 1	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 167990921.	NM_004491.5(ARHGAP35):c.3283_3286delinsT (p.Val1095_Lys1096delinsTer) GRCh37: Chr19:47425215-47425218 GRCh38: Chr19:46921958-46921961	ARHGAP35		Martsolf syndrome 1	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 167990822.	NM_004491.5(ARHGAP35):c.2565C>A (p.Tyr855Ter) GRCh37: Chr19:47424497 GRCh38: Chr19:46921240	ARHGAP35	Y855*	Martsolf syndrome 1	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 167990723.	NM_004491.5(ARHGAP35):c.4297C>G (p.Pro1433Ala) GRCh37: Chr19:47503742 GRCh38: Chr19:47000485	ARHGAP35	P1433A	Martsolf syndrome 1	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 167990624.	NM_004491.5(ARHGAP35):c.4240G>A (p.Ala1414Thr) GRCh37: Chr19:47503685 GRCh38: Chr19:47000428	ARHGAP35	A1414T	Martsolf syndrome 1	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 167990525.	NM_004491.5(ARHGAP35):c.4235T>C (p.Met1412Thr) GRCh37: Chr19:47503680 GRCh38: Chr19:47000423	ARHGAP35	M1412T	Martsolf syndrome 1	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 167990426.	NM_004491.5(ARHGAP35):c.4105C>G (p.His1369Asp) GRCh37: Chr19:47502629 GRCh38: Chr19:46999372	ARHGAP35	H1369D	Martsolf syndrome 1	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 167990327.	NM_004491.5(ARHGAP35):c.4049G>A (p.Arg1350Gln) GRCh37: Chr19:47502573 GRCh38: Chr19:46999316	ARHGAP35	R1350Q	Martsolf syndrome 1	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 117305128.	NM_012414.4(RAB3GAP2):c.1955T>A (p.Leu652Ter) GRCh37: Chr1:220357421 GRCh38: Chr1:220184079	RAB3GAP2	L652*	Martsolf syndrome 1	Pathogenic (Jul 7, 2021)	no assertion criteria provided
Select item 117305029.	NM_012414.4(RAB3GAP2):c.2488C>T (p.Gln830Ter) GRCh37: Chr1:220345320 GRCh38: Chr1:220171978	RAB3GAP2	Q830*	Martsolf syndrome 1	Pathogenic (Jul 7, 2021)	no assertion criteria provided
Select item 29565530.	NM_012414.4(RAB3GAP2):c.1960T>C (p.Ser654Pro) GRCh37: Chr1:220357416 GRCh38: Chr1:220184074	RAB3GAP2	S654P	Warburg micro syndrome 2, Martsolf syndrome 1, Inborn genetic diseases, Warburg micro syndrome 2, Martsolf syndrome, Warburg micro syndrome 2, Martsolf syndrome	Uncertain significance (Oct 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 26520631.	NM_000216.4(ANOS1):c.1891C>T (p.Arg631Ter) GRCh37: ChrX:8502453 GRCh38: ChrX:8534412	ANOS1	R631*	Hypogonadotropic hypogonadism 1 with or without anosmia, not provided, Martsolf syndrome 1	Pathogenic (Sep 28, 2022)	criteria provided, multiple submitters, no conflicts
Select item 10078732.	NM_012414.4(RAB3GAP2):c.1276C>T (p.Arg426Cys) GRCh37: Chr1:220364621 GRCh38: Chr1:220191279	RAB3GAP2	R426C	Martsolf syndrome, Warburg micro syndrome 2, Martsolf syndrome	Pathogenic/Likely pathogenic (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 6883433.	NM_006080.3(SEMA3A):c.2189G>A (p.Arg730Gln) GRCh37: Chr7:83590814 GRCh38: Chr7:83961498	SEMA3A	R730Q	Martsolf syndrome 1	Uncertain significance (Apr 1, 2022)	criteria provided, single submitter
Select item 182034.	NM_012414.4(RAB3GAP2):c.3154G>T (p.Gly1052Cys) GRCh37: Chr1:220338075 GRCh38: Chr1:220164733	RAB3GAP2	G1052C	Martsolf syndrome 1	Pathogenic (Apr 1, 2006)	no assertion criteria provided

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Items: 34