ClinVar for MedGen (Select 373344) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 26270511.	NM_018136.5(ASPM):c.7811A>G (p.Lys2604Arg) GRCh37: Chr1:197070570 GRCh38: Chr1:197101440	ASPM	K2604R	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Oct 30, 2023)	no assertion criteria provided
Select item 25855792.	NM_018136.5(ASPM):c.6808C>T (p.Gln2270Ter) GRCh37: Chr1:197071573 GRCh38: Chr1:197102443	ASPM	Q2270, Q45	Microcephaly 5, primary, autosomal recessive	Likely pathogenic	criteria provided, single submitter
Select item 25855783.	NM_018136.5(ASPM):c.326dup (p.Asn109fs) GRCh37: Chr1:197113201-197113202 GRCh38: Chr1:197144071-197144072	ASPM	N109fs	Microcephaly 5, primary, autosomal recessive	Likely pathogenic	criteria provided, single submitter
Select item 24995394.	NM_018136.5(ASPM):c.3879_3880del (p.Lys1294fs) GRCh37: Chr1:197087104-197087105 GRCh38: Chr1:197117974-197117975	ASPM	K1294fs	Microcephaly 5, primary, autosomal recessive	Likely pathogenic (Mar 1, 2023)	criteria provided, single submitter
Select item 24392665.	NM_018136.5(ASPM):c.3577_3579delinsCCA (p.Ser1193Pro) GRCh37: Chr1:197091537-197091539 GRCh38: Chr1:197122407-197122409	ASPM	S1193P	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 24392656.	NM_018136.5(ASPM):c.441+5T>G GRCh37: Chr1:197113082 GRCh38: Chr1:197143952	ASPM		Microcephaly 5, primary, autosomal recessive	Uncertain significance (May 19, 2021)	criteria provided, single submitter
Select item 24392647.	NM_018136.5(ASPM):c.9309A>T (p.Arg3103Ser) GRCh37: Chr1:197061172 GRCh38: Chr1:197092042	ASPM	R1518S, R3103S	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Sep 26, 2019)	criteria provided, single submitter
Select item 24392638.	NM_018136.5(ASPM):c.2583A>G (p.Ile861Met) GRCh37: Chr1:197099091 GRCh38: Chr1:197129961	ASPM	I861M	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Jun 29, 2019)	criteria provided, single submitter
Select item 24392629.	NM_018136.5(ASPM):c.9695T>C (p.Ile3232Thr) GRCh37: Chr1:197059460 GRCh38: Chr1:197090330	ASPM	I1647T, I3232T	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Apr 12, 2019)	criteria provided, single submitter
Select item 243926110.	NM_018136.5(ASPM):c.6351C>T (p.His2117=) GRCh37: Chr1:197072030 GRCh38: Chr1:197102900	ASPM		Microcephaly 5, primary, autosomal recessive	Uncertain significance (Apr 12, 2019)	criteria provided, single submitter
Select item 243925911.	NM_018136.5(ASPM):c.1879C>T (p.Arg627Cys) GRCh37: Chr1:197111503 GRCh38: Chr1:197142373	ASPM	R627C	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Mar 8, 2021)	criteria provided, single submitter
Select item 243925812.	NM_018136.5(ASPM):c.3875G>A (p.Arg1292Lys) GRCh37: Chr1:197087109 GRCh38: Chr1:197117979	ASPM	R1292K	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Nov 20, 2019)	criteria provided, single submitter
Select item 243925713.	NM_018136.5(ASPM):c.9898T>C (p.Phe3300Leu) GRCh37: Chr1:197059146 GRCh38: Chr1:197090016	ASPM	F1715L, F3300L	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Apr 25, 2022)	criteria provided, single submitter
Select item 243925614.	NM_018136.5(ASPM):c.3387A>T (p.Lys1129Asn) GRCh37: Chr1:197093243 GRCh38: Chr1:197124113	ASPM	K1129N	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Apr 20, 2022)	criteria provided, single submitter
Select item 243925415.	NM_018136.5(ASPM):c.5626G>A (p.Ala1876Thr) GRCh37: Chr1:197072755 GRCh38: Chr1:197103625	ASPM	A1876T	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Aug 12, 2019)	criteria provided, single submitter
Select item 243925316.	NM_018136.5(ASPM):c.4190C>T (p.Thr1397Ile) GRCh37: Chr1:197074191 GRCh38: Chr1:197105061	ASPM	T1397I	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Nov 20, 2019)	criteria provided, single submitter
Select item 243548817.	NM_018136.5(ASPM):c.4515del (p.Lys1505fs) GRCh37: Chr1:197073866 GRCh38: Chr1:197104736	ASPM	K1505fs	Microcephaly 5, primary, autosomal recessive	Likely pathogenic (May 2, 2022)	criteria provided, single submitter
Select item 243179418.	NM_018136.5(ASPM):c.1199del (p.Asn400fs) GRCh37: Chr1:197112183 GRCh38: Chr1:197143053	ASPM	N400fs	Microcephaly 5, primary, autosomal recessive	Pathogenic (Dec 2, 2022)	criteria provided, single submitter
Select item 243136319.	NM_018136.5(ASPM):c.7748_7749del (p.Ile2583fs) GRCh37: Chr1:197070632-197070633 GRCh38: Chr1:197101502-197101503	ASPM	I2583fs	Microcephaly 5, primary, autosomal recessive	Pathogenic (Jun 3, 2022)	criteria provided, single submitter
Select item 243105820.	NM_018136.5(ASPM):c.2783del (p.Ala928fs) GRCh37: Chr1:197097773 GRCh38: Chr1:197128643	ASPM	A928fs	Microcephaly 5, primary, autosomal recessive	Likely pathogenic (Mar 1, 2023)	criteria provided, single submitter
Select item 223151721.	NM_018136.5(ASPM):c.4123A>G (p.Ile1375Val) GRCh37: Chr1:197074258 GRCh38: Chr1:197105128	ASPM	I1375V	Inborn genetic diseases, Microcephaly 5, primary, autosomal recessive	Conflicting interpretations of pathogenicity (Jul 2, 2021)	criteria provided, conflicting interpretations
Select item 180635722.	NM_018136.5(ASPM):c.8615C>T (p.Thr2872Met) GRCh37: Chr1:197069766 GRCh38: Chr1:197100636	ASPM	T2872M	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 180625423.	NM_018136.5(ASPM):c.7937A>G (p.His2646Arg) GRCh37: Chr1:197070444 GRCh38: Chr1:197101314	ASPM	H2646R	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Jun 11, 2020)	criteria provided, single submitter
Select item 180610724.	NM_018136.5(ASPM):c.3232A>T (p.Ser1078Cys) GRCh37: Chr1:197093398 GRCh38: Chr1:197124268	ASPM	S1078C	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Oct 19, 2020)	criteria provided, single submitter
Select item 180512025.	NM_018136.5(ASPM):c.5600C>A (p.Thr1867Lys) GRCh37: Chr1:197072781 GRCh38: Chr1:197103651	ASPM	T1867K	not provided, Microcephaly 5, primary, autosomal recessive	Conflicting interpretations of pathogenicity (Sep 15, 2022)	criteria provided, conflicting interpretations
Select item 171043926.	NM_018136.5(ASPM):c.1823_1824del (p.Glu608fs) GRCh37: Chr1:197111558-197111559 GRCh38: Chr1:197142428-197142429	ASPM	E608fs	Microcephaly 5, primary, autosomal recessive	Pathogenic (Jul 19, 2022)	criteria provided, single submitter
Select item 170944927.	NM_018136.5(ASPM):c.1505C>G (p.Ala502Gly) GRCh37: Chr1:197111877 GRCh38: Chr1:197142747	ASPM	A502G	not provided, Microcephaly 5, primary, autosomal recessive	Uncertain significance (Aug 8, 2022)	criteria provided, multiple submitters, no conflicts
Select item 170542928.	NM_018136.5(ASPM):c.532del (p.Thr178fs) GRCh37: Chr1:197112850 GRCh38: Chr1:197143720	ASPM	T178fs	Microcephaly 5, primary, autosomal recessive	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 170529229.	NM_018136.5(ASPM):c.4938dup (p.Gln1647fs) GRCh37: Chr1:197073442-197073443 GRCh38: Chr1:197104312-197104313	ASPM	Q1647fs	Microcephaly 5, primary, autosomal recessive	Likely pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 169899630.	NM_018136.5(ASPM):c.2629+3A>G GRCh37: Chr1:197099042 GRCh38: Chr1:197129912	ASPM		Microcephaly 5, primary, autosomal recessive	Uncertain significance (Feb 2, 2022)	criteria provided, single submitter
Select item 169898831.	NM_018136.5(ASPM):c.8191G>T (p.Glu2731Ter) GRCh37: Chr1:197070190 GRCh38: Chr1:197101060	ASPM	E2731*	Microcephaly 5, primary, autosomal recessive	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 169723632.	NM_001371596.2(MFSD8):c.699-1G>A GRCh37: Chr4:128859994 GRCh38: Chr4:127938839	MFSD8		Neuronal ceroid lipofuscinosis 7, Microcephaly 5, primary, autosomal recessive	Pathogenic	criteria provided, single submitter
Select item 167984033.	NM_018136.5(ASPM):c.9450G>A (p.Trp3150Ter) GRCh37: Chr1:197060166 GRCh38: Chr1:197091036	ASPM	W1565, W3150	Microcephaly 5, primary, autosomal recessive	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 167983934.	NM_018136.5(ASPM):c.3067T>G (p.Leu1023Val) GRCh37: Chr1:197094191 GRCh38: Chr1:197125061	ASPM	L1023V	Microcephaly 5, primary, autosomal recessive	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 167932235.	NM_018136.5(ASPM):c.4995T>A (p.Tyr1665Ter) GRCh37: Chr1:197073386 GRCh38: Chr1:197104256	ASPM	Y1665*	Autosomal recessive primary microcephaly, Microcephaly 5, primary, autosomal recessive	Likely pathogenic (Jan 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 167519036.	NM_018136.5(ASPM):c.6115_6118del (p.Lys2038_Arg2039insTer) GRCh37: Chr1:197072263-197072266 GRCh38: Chr1:197103133-197103136	ASPM		Microcephaly 5, primary, autosomal recessive	Likely pathogenic (Feb 18, 2020)	criteria provided, single submitter
Select item 152401237.	NM_018136.5(ASPM):c.5333T>C (p.Ile1778Thr) GRCh37: Chr1:197073048 GRCh38: Chr1:197103918	ASPM	I1778T	Microcephaly 5, primary, autosomal recessive, not provided	Uncertain significance (Sep 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 148654138.	NM_018136.5(ASPM):c.9593G>A (p.Arg3198His) GRCh37: Chr1:197060023 GRCh38: Chr1:197090893	ASPM	R1613H, R3198H	not provided, Microcephaly 5, primary, autosomal recessive	Uncertain significance (Dec 13, 2021)	criteria provided, multiple submitters, no conflicts
Select item 145443039.	NM_018136.5(ASPM):c.6854_6855del (p.Leu2285fs) GRCh37: Chr1:197071526-197071527 GRCh38: Chr1:197102396-197102397	ASPM	L2285fs	Microcephaly 5, primary, autosomal recessive, not provided	Pathogenic/Likely pathogenic (Sep 7, 2022)	criteria provided, multiple submitters, no conflicts
Select item 137533740.	NM_018136.5(ASPM):c.6466G>T (p.Gly2156Cys) GRCh37: Chr1:197071915 GRCh38: Chr1:197102785	ASPM	G2156C	not provided, Microcephaly 5, primary, autosomal recessive	Uncertain significance (Sep 24, 2021)	criteria provided, multiple submitters, no conflicts
Select item 134597241.	NM_018136.5(ASPM):c.10222C>T (p.His3408Tyr) GRCh37: Chr1:197056042 GRCh38: Chr1:197086912	ASPM	H1823Y, H3408Y	not provided, Microcephaly 5, primary, autosomal recessive	Uncertain significance (Mar 3, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133842942.	NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter) GRCh37: Chr1:197073769 GRCh38: Chr1:197104639	ASPM	R1538*	Microcephaly 5, primary, autosomal recessive, not provided	Pathogenic (Jan 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132556743.	NM_018136.5(ASPM):c.9931C>G (p.Pro3311Ala) GRCh37: Chr1:197059113 GRCh38: Chr1:197089983	ASPM	P1726A, P3311A	Microcephaly 5, primary, autosomal recessive, not provided	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132394644.	NM_018136.5(ASPM):c.9109del (p.Gln3037fs) GRCh37: Chr1:197062367 GRCh38: Chr1:197093237	ASPM	Q1452fs, Q3037fs	Microcephaly 5, primary, autosomal recessive	Likely pathogenic (Dec 9, 2020)	criteria provided, single submitter
Select item 132394545.	NM_018136.5(ASPM):c.9444+1G>T GRCh37: Chr1:197061036 GRCh38: Chr1:197091906	ASPM		Microcephaly 5, primary, autosomal recessive	Likely pathogenic (Feb 2, 2021)	criteria provided, single submitter
Select item 132353046.	NM_018136.5(ASPM):c.434del (p.Lys145fs) GRCh37: Chr1:197113094 GRCh38: Chr1:197143964	ASPM	K145fs	Microcephaly 5, primary, autosomal recessive	Pathogenic (Sep 5, 2020)	criteria provided, single submitter
Select item 132352547.	NM_018136.5(ASPM):c.9874C>T (p.Gln3292Ter) GRCh37: Chr1:197059170 GRCh38: Chr1:197090040	ASPM	Q1707, Q3292	Microcephaly 5, primary, autosomal recessive	Pathogenic (May 8, 2019)	criteria provided, single submitter
Select item 132351548.	NM_018136.5(ASPM):c.4451_4455del (p.Tyr1484fs) GRCh37: Chr1:197073926-197073930 GRCh38: Chr1:197104796-197104800	ASPM	Y1484fs	Microcephaly 5, primary, autosomal recessive	Pathogenic (Apr 2, 2020)	criteria provided, single submitter
Select item 132351249.	NM_018136.5(ASPM):c.2581dup (p.Ile861fs) GRCh37: Chr1:197099092-197099093 GRCh38: Chr1:197129962-197129963	ASPM	I861fs	Microcephaly 5, primary, autosomal recessive	Pathogenic (Nov 5, 2020)	criteria provided, single submitter
Select item 132008050.	NM_018136.5(ASPM):c.9641T>A (p.Leu3214Ter) GRCh37: Chr1:197059514 GRCh38: Chr1:197090384	ASPM	L1629, L3214	Microcephaly 5, primary, autosomal recessive	Pathogenic (Oct 2, 2021)	criteria provided, single submitter
Select item 132007951.	NM_018136.5(ASPM):c.2760+1G>A GRCh37: Chr1:197098316 GRCh38: Chr1:197129186	ASPM		Microcephaly 5, primary, autosomal recessive	Pathogenic (Oct 2, 2021)	criteria provided, single submitter
Select item 127993552.	NM_018136.5(ASPM):c.8141del (p.Ala2714fs) GRCh37: Chr1:197070240 GRCh38: Chr1:197101110	ASPM	A2714fs	Microcephaly 5, primary, autosomal recessive	Pathogenic (Sep 22, 2021)	criteria provided, single submitter
Select item 125207453.	NM_018136.5(ASPM):c.2551A>T (p.Ile851Phe) GRCh37: Chr1:197099123 GRCh38: Chr1:197129993	ASPM	I851F	Microcephaly 5, primary, autosomal recessive	Likely pathogenic (Apr 29, 2021)	no assertion criteria provided
Select item 118454054.	NM_018136.5(ASPM):c.8365del (p.Ser2789fs) GRCh37: Chr1:197070016 GRCh38: Chr1:197100886	ASPM	S2789fs	Microcephaly 5, primary, autosomal recessive	Likely pathogenic	no assertion criteria provided
Select item 118453955.	NM_018136.5(ASPM):c.8794del (p.Ile2932fs) GRCh37: Chr1:197069587 GRCh38: Chr1:197100457	ASPM	I2932fs	Microcephaly 5, primary, autosomal recessive	Likely pathogenic	no assertion criteria provided
Select item 103388756.	NM_018136.5(ASPM):c.5055G>T (p.Leu1685Phe) GRCh37: Chr1:197073326 GRCh38: Chr1:197104196	ASPM	L1685F	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Mar 19, 2018)	criteria provided, single submitter
Select item 103347257.	NM_018136.5(ASPM):c.3725C>T (p.Thr1242Ile) GRCh37: Chr1:197091305 GRCh38: Chr1:197122175	ASPM	T1242I	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Jun 13, 2018)	criteria provided, single submitter
Select item 103347158.	NM_018136.5(ASPM):c.1697C>T (p.Ser566Leu) GRCh37: Chr1:197111685 GRCh38: Chr1:197142555	ASPM	S566L	not provided, Microcephaly 5, primary, autosomal recessive	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102967859.	NM_018136.5(ASPM):c.9659G>A (p.Trp3220Ter) GRCh37: Chr1:197059496 GRCh38: Chr1:197090366	ASPM	W1635, W3220	not provided, Microcephaly 5, primary, autosomal recessive	Pathogenic (Jun 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102967760.	NM_018136.5(ASPM):c.9286C>T (p.Arg3096Ter) GRCh37: Chr1:197062190 GRCh38: Chr1:197093060	ASPM	R1511, R3096	Microcephaly 5, primary, autosomal recessive	Pathogenic (Jul 16, 2019)	criteria provided, single submitter
Select item 102967661.	NM_018136.5(ASPM):c.7966AGA[1] (p.Arg2657del) GRCh37: Chr1:197070410-197070412 GRCh38: Chr1:197101280-197101282	ASPM	R2657del	not provided, Microcephaly 5, primary, autosomal recessive	Uncertain significance (Jun 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 102967562.	NM_018136.5(ASPM):c.6994C>T (p.Arg2332Ter) GRCh37: Chr1:197071387 GRCh38: Chr1:197102257	ASPM	R2332*	not provided, Microcephaly 5, primary, autosomal recessive	Pathogenic (Aug 23, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102951963.	NM_018136.5(ASPM):c.3683G>A (p.Gly1228Asp) GRCh37: Chr1:197091347 GRCh38: Chr1:197122217	ASPM	G1228D	not provided, Microcephaly 5, primary, autosomal recessive	Uncertain significance (Dec 2, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102951864.	NM_018136.5(ASPM):c.3282_3285del (p.Asn1095fs) GRCh37: Chr1:197093345-197093348 GRCh38: Chr1:197124215-197124218	ASPM	N1095fs	Microcephaly 5, primary, autosomal recessive	Likely pathogenic (Nov 11, 2021)	criteria provided, multiple submitters, no conflicts
Select item 102951765.	NM_018136.5(ASPM):c.3115A>G (p.Arg1039Gly) GRCh37: Chr1:197094053 GRCh38: Chr1:197124923	ASPM	R1039G	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Jul 27, 2020)	criteria provided, single submitter
Select item 102951666.	NM_018136.5(ASPM):c.1931T>A (p.Ile644Lys) GRCh37: Chr1:197108992 GRCh38: Chr1:197139862	ASPM	I644K	not provided, Microcephaly 5, primary, autosomal recessive	Uncertain significance (Sep 12, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99802067.	NM_018136.5(ASPM):c.[1789C>T;2525_2531del] GRCh37: Chr1:197099143-197099149 Chr1:197111593 GRCh38: Chr1:197130013-197130019 Chr1:197142463	ASPM, ASPM	S842fs, R597*	Microcephaly 5, primary, autosomal recessive	Pathogenic (May 31, 2019)	no assertion criteria provided
Select item 99778568.	NM_018136.5(ASPM):c.8700_8702delinsCC (p.Lys2900fs) GRCh37: Chr1:197069679-197069681 GRCh38: Chr1:197100549-197100551	ASPM	K2900fs	Microcephaly 5, primary, autosomal recessive	Pathogenic (Jan 1, 2020)	no assertion criteria provided
Select item 99778469.	NM_018136.5(ASPM):c.1932del (p.Phe645fs) GRCh37: Chr1:197108991 GRCh38: Chr1:197139861	ASPM	F645fs	Microcephaly 5, primary, autosomal recessive	Pathogenic (Jan 1, 2020)	no assertion criteria provided
Select item 99609770.	NM_018136.5(ASPM):c.7664_7665del (p.Lys2555fs) GRCh37: Chr1:197070716-197070717 GRCh38: Chr1:197101586-197101587	ASPM	K2555fs	Microcephaly 5, primary, autosomal recessive	Pathogenic (Jan 15, 2021)	criteria provided, single submitter
Select item 99541471.	NM_018136.5(ASPM):c.7325_7332dup (p.Ile2445fs) GRCh37: Chr1:197071048-197071049 GRCh38: Chr1:197101918-197101919	ASPM	I2445fs	not provided, Microcephaly 5, primary, autosomal recessive	Pathogenic (May 10, 2022)	criteria provided, multiple submitters, no conflicts
Select item 99303872.	NM_018136.5(ASPM):c.10118GTT[1] (p.Cys3374del) GRCh37: Chr1:197057424-197057426 GRCh38: Chr1:197088294-197088296	ASPM	C1789del, C3374del	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Nov 12, 2020)	no assertion criteria provided
Select item 97786773.	NM_018136.5(ASPM):c.3741+1G>C GRCh37: Chr1:197091288 GRCh38: Chr1:197122158	ASPM		Microcephaly 5, primary, autosomal recessive	Pathogenic	no assertion criteria provided
Select item 97786674.	NM_018136.5(ASPM):c.8195_8198del (p.Arg2732fs) GRCh37: Chr1:197070183-197070186 GRCh38: Chr1:197101053-197101056	ASPM	R2732fs	Microcephaly 5, primary, autosomal recessive	Pathogenic (Jan 27, 2022)	criteria provided, single submitter
Select item 97786375.	NM_018136.5(ASPM):c.1498del (p.Arg500fs) GRCh37: Chr1:197111884 GRCh38: Chr1:197142754	ASPM	R500fs	Microcephaly 5, primary, autosomal recessive	Likely pathogenic	no assertion criteria provided
Select item 97786276.	NM_018136.5(ASPM):c.250_252delinsCG (p.Ala84fs) GRCh37: Chr1:197115316-197115318 GRCh38: Chr1:197146186-197146188	ASPM, LOC129932155	A84fs	Microcephaly 5, primary, autosomal recessive	Likely pathogenic	no assertion criteria provided
Select item 97785177.	NM_018136.5(ASPM):c.804del (p.Val269fs) GRCh37: Chr1:197112578 GRCh38: Chr1:197143448	ASPM	V269fs	Microcephaly 5, primary, autosomal recessive	Likely pathogenic	no assertion criteria provided
Select item 97785078.	NM_018136.5(ASPM):c.1619dup (p.Asp540fs) GRCh37: Chr1:197111762-197111763 GRCh38: Chr1:197142632-197142633	ASPM	D540fs	Microcephaly 5, primary, autosomal recessive	Likely pathogenic	no assertion criteria provided
Select item 97784479.	NM_018136.5(ASPM):c.8702del (p.His2901fs) GRCh37: Chr1:197069679 GRCh38: Chr1:197100549	ASPM	H2901fs	Microcephaly 5, primary, autosomal recessive	Pathogenic	no assertion criteria provided
Select item 87700380.	NM_018136.5(ASPM):c.676C>T (p.Pro226Ser) GRCh37: Chr1:197112706 GRCh38: Chr1:197143576	ASPM	P226S	Microcephaly 5, primary, autosomal recessive, Inborn genetic diseases, not provided	Uncertain significance (Oct 18, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87700281.	NM_018136.5(ASPM):c.712C>T (p.Pro238Ser) GRCh37: Chr1:197112670 GRCh38: Chr1:197143540	ASPM	P238S	Microcephaly 5, primary, autosomal recessive, Inborn genetic diseases, not provided	Uncertain significance (Jul 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87694482.	NM_018136.5(ASPM):c.2055T>A (p.Ala685=) GRCh37: Chr1:197104344 GRCh38: Chr1:197135214	ASPM		Microcephaly 5, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87694383.	NM_018136.5(ASPM):c.2062A>C (p.Asn688His) GRCh37: Chr1:197104337 GRCh38: Chr1:197135207	ASPM	N688H	Microcephaly 5, primary, autosomal recessive, not provided	Uncertain significance (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87694284.	NM_018136.5(ASPM):c.2173+5A>T GRCh37: Chr1:197104221 GRCh38: Chr1:197135091	ASPM		Microcephaly 5, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 87694185.	NM_018136.5(ASPM):c.2174-12G>A GRCh37: Chr1:197102737 GRCh38: Chr1:197133607	ASPM		Microcephaly 5, primary, autosomal recessive	Uncertain significance (Feb 2, 2018)	criteria provided, single submitter
Select item 87690286.	NM_018136.5(ASPM):c.3311G>A (p.Gly1104Asp) GRCh37: Chr1:197093319 GRCh38: Chr1:197124189	ASPM	G1104D	Microcephaly 5, primary, autosomal recessive, not provided	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87690187.	NM_018136.5(ASPM):c.3480T>A (p.Ala1160=) GRCh37: Chr1:197091636 GRCh38: Chr1:197122506	ASPM		Microcephaly 5, primary, autosomal recessive	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 87685788.	NM_018136.5(ASPM):c.4488A>G (p.Lys1496=) GRCh37: Chr1:197073893 GRCh38: Chr1:197104763	ASPM		Microcephaly 5, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87685689.	NM_018136.5(ASPM):c.4507G>A (p.Ala1503Thr) GRCh37: Chr1:197073874 GRCh38: Chr1:197104744	ASPM	A1503T	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87685590.	NM_018136.5(ASPM):c.4613G>A (p.Arg1538Gln) GRCh37: Chr1:197073768 GRCh38: Chr1:197104638	ASPM	R1538Q	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87685491.	NM_018136.5(ASPM):c.4975G>T (p.Val1659Phe) GRCh37: Chr1:197073406 GRCh38: Chr1:197104276	ASPM	V1659F	Microcephaly 5, primary, autosomal recessive, not provided	Conflicting interpretations of pathogenicity (Oct 30, 2022)	criteria provided, conflicting interpretations
Select item 87685392.	NM_018136.5(ASPM):c.4985T>G (p.Ile1662Ser) GRCh37: Chr1:197073396 GRCh38: Chr1:197104266	ASPM	I1662S	Microcephaly 5, primary, autosomal recessive, not provided, Inborn genetic diseases	Uncertain significance (Aug 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 87679593.	NM_018136.5(ASPM):c.6046T>C (p.Leu2016=) GRCh37: Chr1:197072335 GRCh38: Chr1:197103205	ASPM		Microcephaly 5, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87670294.	NM_018136.5(ASPM):c.8892G>T (p.Trp2964Cys) GRCh37: Chr1:197065223 GRCh38: Chr1:197096093	ASPM	W2964C, W1379C	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Mar 30, 2018)	criteria provided, single submitter
Select item 87670195.	NM_018136.5(ASPM):c.9144C>G (p.Val3048=) GRCh37: Chr1:197062332 GRCh38: Chr1:197093202	ASPM		Microcephaly 5, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87670096.	NM_018136.5(ASPM):c.9223A>C (p.Lys3075Gln) GRCh37: Chr1:197062253 GRCh38: Chr1:197093123	ASPM	K1490Q, K3075Q	Microcephaly 5, primary, autosomal recessive, not provided	Uncertain significance (Oct 29, 2021)	criteria provided, multiple submitters, no conflicts
Select item 87665997.	NM_018136.5(ASPM):c.*61G>A GRCh37: Chr1:197053393 GRCh38: Chr1:197084263	ASPM		Microcephaly 5, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 87603298.	NM_018136.5(ASPM):c.898C>G (p.Pro300Ala) GRCh37: Chr1:197112484 GRCh38: Chr1:197143354	ASPM	P300A	Inborn genetic diseases, Microcephaly 5, primary, autosomal recessive	Uncertain significance (Aug 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 87603199.	NM_018136.5(ASPM):c.902A>G (p.Asn301Ser) GRCh37: Chr1:197112480 GRCh38: Chr1:197143350	ASPM	N301S	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 876030100.	NM_018136.5(ASPM):c.951T>G (p.Ser317Arg) GRCh37: Chr1:197112431 GRCh38: Chr1:197143301	ASPM	S317R	Microcephaly 5, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter

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