ClinVar for MedGen (Select 344415) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24336801.	NM_024596.5(MCPH1):c.1244A>G (p.Tyr415Cys) GRCh37: Chr8:6302487 GRCh38: Chr8:6444966	MCPH1	Y367C, Y381C, Y413C, Y415C	Microcephaly 1, primary, autosomal recessive	Uncertain significance (Dec 21, 2019)	criteria provided, single submitter
Select item 24336792.	NM_024596.5(MCPH1):c.355A>G (p.Lys119Glu) GRCh37: Chr8:6293602 GRCh38: Chr8:6436081	MCPH1	K117E, K119E, K85E	Microcephaly 1, primary, autosomal recessive	Uncertain significance (Dec 21, 2019)	criteria provided, single submitter
Select item 24317393.	NM_024596.5(MCPH1):c.2214+1G>A GRCh37: Chr8:6357451 GRCh38: Chr8:6499930	MCPH1, ANGPT2		Microcephaly 1, primary, autosomal recessive	Likely pathogenic (Apr 1, 2022)	criteria provided, single submitter
Select item 18056314.	NM_024596.5(MCPH1):c.208C>T (p.Leu70Phe) GRCh37: Chr8:6272379 GRCh38: Chr8:6414858	MCPH1	L36F, L68F, L70F	Microcephaly 1, primary, autosomal recessive	Uncertain significance (May 25, 2020)	criteria provided, single submitter
Select item 18055405.	NM_024596.5(MCPH1):c.1844C>G (p.Thr615Arg) GRCh37: Chr8:6312682 GRCh38: Chr8:6455161	MCPH1	T615R	Microcephaly 1, primary, autosomal recessive	Uncertain significance (May 21, 2020)	criteria provided, single submitter
Select item 18054306.	NM_024596.5(MCPH1):c.1935+6T>C GRCh37: Chr8:6312779 GRCh38: Chr8:6455258	MCPH1		Inborn genetic diseases, Microcephaly 1, primary, autosomal recessive	Uncertain significance (Mar 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 17053287.	NM_024596.5(MCPH1):c.477del (p.Ser159_Leu160insTer) GRCh37: Chr8:6296514 GRCh38: Chr8:6438993	MCPH1		Microcephaly 1, primary, autosomal recessive	Pathogenic (Sep 1, 2022)	criteria provided, single submitter
Select item 16965238.	NM_024596.5(MCPH1):c.2400C>A (p.Tyr800Ter) GRCh37: Chr8:6479160 GRCh38: Chr8:6621639	MCPH1, MCPH1-AS1	Y707, Y800	Microcephaly 1, primary, autosomal recessive	Uncertain significance (Aug 14, 2021)	criteria provided, single submitter
Select item 16317809.	NM_024596.5(MCPH1):c.2215-19_2215-18delinsGC GRCh37: Chr8:6478956-6478957 GRCh38: Chr8:6621435-6621436	MCPH1, MCPH1-AS1		Microcephaly 1, primary, autosomal recessive, not provided	Likely benign (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 140967010.	NM_024596.5(MCPH1):c.1477C>T (p.Arg493Cys) GRCh37: Chr8:6302720 GRCh38: Chr8:6445199	MCPH1	R459C, R491C, R493C, R445C	not provided, Microcephaly 1, primary, autosomal recessive	Uncertain significance (Apr 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133356211.	NM_024596.5(MCPH1):c.1430C>T (p.Thr477Ile) GRCh37: Chr8:6302673 GRCh38: Chr8:6445152	MCPH1	T429I, T443I, T475I, T477I	not provided, Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 31, 2022)	criteria provided, multiple submitters, no conflicts
Select item 133326512.	NM_024596.5(MCPH1):c.135A>C (p.Lys45Asn) GRCh37: Chr8:6272306 GRCh38: Chr8:6414785	MCPH1	K11N, K43N, K45N	Microcephaly 1, primary, autosomal recessive, not provided	Uncertain significance (Jun 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 132470913.	NM_024596.5(MCPH1):c.2127_2128del (p.Ser709_Tyr710insTer) GRCh37: Chr8:6338388-6338389 GRCh38: Chr8:6480867-6480868	MCPH1		Microcephaly 1, primary, autosomal recessive	Likely pathogenic (Mar 19, 2020)	criteria provided, single submitter
Select item 132470714.	NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter) GRCh37: Chr8:6478981 GRCh38: Chr8:6621460	MCPH1-AS1, MCPH1	R648, R741	Microcephaly 1, primary, autosomal recessive	Pathogenic/Likely pathogenic (May 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 117481215.	NM_024596.5(MCPH1):c.513G>T (p.Arg171Ser) GRCh37: Chr8:6296550 GRCh38: Chr8:6439029	MCPH1	R137S, R169S, R171S	Microcephaly 1, primary, autosomal recessive, not provided	Benign (Nov 4, 2022)	criteria provided, multiple submitters, no conflicts
Select item 106548416.	NM_024596.5(MCPH1):c.143C>T (p.Thr48Ile) GRCh37: Chr8:6272314 GRCh38: Chr8:6414793	MCPH1	T14I, T46I, T48I	Microcephaly 1, primary, autosomal recessive	Likely pathogenic (Mar 26, 2020)	criteria provided, single submitter
Select item 103217917.	NM_024596.5(MCPH1):c.151A>G (p.Ile51Val) GRCh37: Chr8:6272322 GRCh38: Chr8:6414801	MCPH1	I49V, I17V, I51V	Microcephaly 1, primary, autosomal recessive	Uncertain significance (Feb 21, 2018)	criteria provided, single submitter
Select item 103217818.	NM_024596.5(MCPH1):c.149T>G (p.Val50Gly) GRCh37: Chr8:6272320 GRCh38: Chr8:6414799	MCPH1	V48G, V50G, V16G	Microcephaly 1, primary, autosomal recessive	Uncertain significance (Feb 21, 2018)	criteria provided, single submitter
Select item 102832619.	NM_024596.5(MCPH1):c.1281G>T (p.Glu427Asp) GRCh37: Chr8:6302524 GRCh38: Chr8:6445003	MCPH1	E425D, E427D, E379D, E393D	Microcephaly 1, primary, autosomal recessive	Uncertain significance (Sep 5, 2019)	criteria provided, single submitter
Select item 102811320.	NM_018451.5(CENPJ):c.3737C>T (p.Thr1246Met) GRCh37: Chr13:25458188 GRCh38: Chr13:24884050	CENPJ, RNF17	T1246M	Microcephaly 1, primary, autosomal recessive	Uncertain significance (Nov 30, 2020)	criteria provided, single submitter
Select item 99778621.	NM_024596.5(MCPH1):c.64G>A (p.Glu22Lys) GRCh37: Chr8:6266841 GRCh38: Chr8:6409320	MCPH1	E20K, E22K	Microcephaly 1, primary, autosomal recessive	Likely pathogenic (Jan 1, 2020)	no assertion criteria provided
Select item 98789422.	NM_024596.5(MCPH1):c.586del (p.Gln196fs) GRCh37: Chr8:6299591 GRCh38: Chr8:6442070	MCPH1	Q148fs, Q162fs, Q194fs, Q196fs	Microcephaly 1, primary, autosomal recessive	Pathogenic (Nov 11, 2020)	criteria provided, single submitter
Select item 98260023.	NM_024596.5(MCPH1):c.23-1G>C GRCh37: Chr8:6266799 GRCh38: Chr8:6409278	MCPH1		Microcephaly 1, primary, autosomal recessive	Likely pathogenic (Jan 17, 2023)	criteria provided, single submitter
Select item 97528824.	NM_024596.5(MCPH1):c.2257G>A (p.Gly753Arg) GRCh37: Chr8:6479017 GRCh38: Chr8:6621496	MCPH1, MCPH1-AS1	G660R, G753R	not provided, Microcephaly 1, primary, autosomal recessive	Uncertain significance (Mar 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 93138225.	NM_024596.5(MCPH1):c.2002del (p.Asp668fs) GRCh37: Chr8:6338262 GRCh38: Chr8:6480741	MCPH1	D668fs	Microcephaly 1, primary, autosomal recessive	Likely pathogenic (Jan 29, 2019)	criteria provided, single submitter
Select item 91600126.	GRCh37/hg19 8p23.1(chr8:6261036-6312712) GRCh37: Chr8:6261036-6312712	MCPH1		Microcephaly 1, primary, autosomal recessive	Pathogenic (Apr 16, 2020)	no assertion criteria provided
Select item 91600027.	GRCh37/hg19 8p23.2-23.1(chr8:6160874-6500521) GRCh37: Chr8:6160874-6500521	MCPH1, ANGPT2		Microcephaly 1, primary, autosomal recessive	Pathogenic (Apr 16, 2020)	no assertion criteria provided
Select item 91230628.	NM_024596.5(MCPH1):c.*433C>G GRCh37: Chr8:6501003 GRCh38: Chr8:6643482	MCPH1, MCPH1-AS1		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91230529.	NM_024596.5(MCPH1):c.*388G>T GRCh37: Chr8:6500958 GRCh38: Chr8:6643437	MCPH1, MCPH1-AS1		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91230430.	NM_024596.5(MCPH1):c.*388G>C GRCh37: Chr8:6500958 GRCh38: Chr8:6643437	MCPH1, MCPH1-AS1		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91230331.	NM_024596.5(MCPH1):c.*295A>C GRCh37: Chr8:6500865 GRCh38: Chr8:6643344	MCPH1, MCPH1-AS1		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Mar 16, 2018)	criteria provided, single submitter
Select item 91210732.	NM_024596.5(MCPH1):c.2078G>A (p.Arg693His) GRCh37: Chr8:6338339 GRCh38: Chr8:6480818	MCPH1	R693H	Microcephaly 1, primary, autosomal recessive	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91210633.	NM_024596.5(MCPH1):c.1986C>G (p.Val662=) GRCh37: Chr8:6338247 GRCh38: Chr8:6480726	MCPH1		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91210534.	NM_024596.5(MCPH1):c.1956G>A (p.Met652Ile) GRCh37: Chr8:6335135 GRCh38: Chr8:6477614	MCPH1	M652I	Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91205535.	NM_024596.5(MCPH1):c.1069A>C (p.Lys357Gln) GRCh37: Chr8:6302312 GRCh38: Chr8:6444791	MCPH1	K309Q, K355Q, K357Q, K323Q	Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91205436.	NM_024596.5(MCPH1):c.1052G>T (p.Ser351Ile) GRCh37: Chr8:6302295 GRCh38: Chr8:6444774	MCPH1	S351I, S317I, S349I, S303I	Microcephaly 1, primary, autosomal recessive, not provided	Uncertain significance (Feb 14, 2023)	criteria provided, multiple submitters, no conflicts
Select item 91205337.	NM_024596.5(MCPH1):c.1026C>T (p.His342=) GRCh37: Chr8:6302269 GRCh38: Chr8:6444748	MCPH1		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91199738.	NM_024596.5(MCPH1):c.340A>G (p.Lys114Glu) GRCh37: Chr8:6293587 GRCh38: Chr8:6436066	MCPH1	K114E, K80E, K112E	Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91199639.	NM_024596.5(MCPH1):c.192G>A (p.Gln64=) GRCh37: Chr8:6272363 GRCh38: Chr8:6414842	MCPH1		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91107040.	NM_024596.5(MCPH1):c.*129C>T GRCh37: Chr8:6500699 GRCh38: Chr8:6643178	MCPH1, MCPH1-AS1		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91106941.	NM_024596.5(MCPH1):c.*122T>A GRCh37: Chr8:6500692 GRCh38: Chr8:6643171	MCPH1, MCPH1-AS1		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 91106842.	NM_024596.5(MCPH1):c.*64T>C GRCh37: Chr8:6500634 GRCh38: Chr8:6643113	MCPH1, MCPH1-AS1		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91077843.	NM_024596.5(MCPH1):c.-39G>A GRCh37: Chr8:6264150 GRCh38: Chr8:6406629	MCPH1		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Apr 27, 2017)	criteria provided, single submitter
Select item 91018644.	NM_024596.5(MCPH1):c.2462C>T (p.Thr821Ile) GRCh37: Chr8:6500524 GRCh38: Chr8:6643003	MCPH1, MCPH1-AS1	T728I, T821I	Microcephaly 1, primary, autosomal recessive	Uncertain significance (Apr 28, 2017)	criteria provided, single submitter
Select item 91018545.	NM_024596.5(MCPH1):c.2435C>G (p.Ser812Cys) GRCh37: Chr8:6479195 GRCh38: Chr8:6621674	MCPH1, MCPH1-AS1	S719C, S812C	Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 91018446.	NM_024596.5(MCPH1):c.2417C>T (p.Ala806Val) GRCh37: Chr8:6479177 GRCh38: Chr8:6621656	MCPH1, MCPH1-AS1	A713V, A806V	Inborn genetic diseases, Microcephaly 1, primary, autosomal recessive	Uncertain significance (Nov 30, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90999247.	NM_024596.5(MCPH1):c.1589A>T (p.Glu530Val) GRCh37: Chr8:6302832 GRCh38: Chr8:6445311	MCPH1	E496V, E482V, E530V, E528V	Inborn genetic diseases, not provided, Microcephaly 1, primary, autosomal recessive	Uncertain significance (Oct 17, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90993148.	NM_024596.5(MCPH1):c.729A>T (p.Gly243=) GRCh37: Chr8:6301972 GRCh38: Chr8:6444451	MCPH1		not provided, Microcephaly 1, primary, autosomal recessive	Conflicting interpretations of pathogenicity (Aug 5, 2022)	criteria provided, conflicting interpretations
Select item 90993049.	NM_024596.5(MCPH1):c.641T>G (p.Leu214Trp) GRCh37: Chr8:6299648 GRCh38: Chr8:6442127	MCPH1	L180W, L212W, L166W, L214W	not provided, Microcephaly 1, primary, autosomal recessive	Uncertain significance (Oct 28, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90915150.	NM_024596.5(MCPH1):c.1390G>A (p.Val464Ile) GRCh37: Chr8:6302633 GRCh38: Chr8:6445112	MCPH1	V464I, V430I, V462I, V416I	not provided, Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jul 20, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90915051.	NM_024596.5(MCPH1):c.1298C>A (p.Ser433Tyr) GRCh37: Chr8:6302541 GRCh38: Chr8:6445020	MCPH1	S433Y, S385Y, S399Y, S431Y	not provided, Microcephaly 1, primary, autosomal recessive	Uncertain significance (Sep 18, 2021)	criteria provided, multiple submitters, no conflicts
Select item 90914952.	NM_024596.5(MCPH1):c.1226A>T (p.Glu409Val) GRCh37: Chr8:6302469 GRCh38: Chr8:6444948	MCPH1	E361V, E375V, E409V, E407V	Inborn genetic diseases, not provided, Microcephaly 1, primary, autosomal recessive	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90907653.	NM_024596.5(MCPH1):c.561G>T (p.Arg187Ser) GRCh37: Chr8:6296598 GRCh38: Chr8:6439077	MCPH1	R153S, R185S, R187S	not provided, Microcephaly 1, primary, autosomal recessive	Uncertain significance (May 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90907554.	NM_024596.5(MCPH1):c.502A>G (p.Ile168Val) GRCh37: Chr8:6296539 GRCh38: Chr8:6439018	MCPH1	I168V, I166V, I134V	Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90823755.	NM_024596.5(MCPH1):c.2254C>G (p.Arg752Gly) GRCh37: Chr8:6479014 GRCh38: Chr8:6621493	MCPH1, MCPH1-AS1	R752G, R659G	Microcephaly 1, primary, autosomal recessive, not provided	Uncertain significance (Aug 9, 2022)	criteria provided, multiple submitters, no conflicts
Select item 90810156.	NM_024596.5(MCPH1):c.2199C>G (p.His733Gln) GRCh37: Chr8:6357435 GRCh38: Chr8:6499914	ANGPT2, MCPH1	H733Q	Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 90810057.	NM_001118887.2(ANGPT2):c.*3256G>A GRCh37: Chr8:6357366 GRCh38: Chr8:6499845	ANGPT2, MCPH1		Microcephaly 1, primary, autosomal recessive, not provided	Conflicting interpretations of pathogenicity (Mar 2, 2022)	criteria provided, conflicting interpretations
Select item 87347258.	NM_024596.5(MCPH1):c.2214+2T>C GRCh37: Chr8:6357452 GRCh38: Chr8:6499931	ANGPT2, MCPH1		not provided, Microcephaly 1, primary, autosomal recessive	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 81353159.	NM_024596.5(MCPH1):c.148G>A (p.Val50Ile) GRCh37: Chr8:6272319 GRCh38: Chr8:6414798	MCPH1	V16I, V48I, V50I	Inborn genetic diseases, Microcephaly 1, primary, autosomal recessive	Uncertain significance (Aug 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 73133260.	NM_024596.5(MCPH1):c.652C>T (p.Arg218Cys) GRCh37: Chr8:6299659 GRCh38: Chr8:6442138	MCPH1	R184C, R170C, R216C, R218C	Microcephaly 1, primary, autosomal recessive, not provided	Conflicting interpretations of pathogenicity (Sep 17, 2022)	criteria provided, conflicting interpretations
Select item 72740461.	NM_024596.5(MCPH1):c.1233A>G (p.Ser411=) GRCh37: Chr8:6302476 GRCh38: Chr8:6444955	MCPH1		not specified, Microcephaly 1, primary, autosomal recessive, not provided	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 71322862.	NM_024596.5(MCPH1):c.489T>C (p.Thr163=) GRCh37: Chr8:6296526 GRCh38: Chr8:6439005	MCPH1		not provided, Microcephaly 1, primary, autosomal recessive	Conflicting interpretations of pathogenicity (Nov 1, 2022)	criteria provided, conflicting interpretations
Select item 69472263.	NM_018136.5(ASPM):c.8200_8201del (p.Asn2734fs) GRCh37: Chr1:197070180-197070181 GRCh38: Chr1:197101050-197101051	ASPM	N2734fs	Microcephaly 1, primary, autosomal recessive	Pathogenic	criteria provided, single submitter
Select item 69471464.	NM_018136.5(ASPM):c.5863dup (p.Gln1955fs) GRCh37: Chr1:197072517-197072518 GRCh38: Chr1:197103387-197103388	ASPM	Q1955fs	Microcephaly 1, primary, autosomal recessive	Pathogenic	criteria provided, single submitter
Select item 63851865.	NM_024596.5(MCPH1):c.1725_1727del (p.Glu575_Gly576delinsAsp) GRCh37: Chr8:6302968-6302970 GRCh38: Chr8:6445447-6445449	MCPH1		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Apr 27, 2019)	criteria provided, single submitter
Select item 63202866.	NM_024596.5(MCPH1):c.322-1G>C GRCh37: Chr8:6293568 GRCh38: Chr8:6436047	MCPH1		not provided, Microcephaly 1, primary, autosomal recessive	Conflicting interpretations of pathogenicity (Oct 7, 2022)	criteria provided, conflicting interpretations
Select item 58614067.	NM_024596.5(MCPH1):c.1625T>G (p.Leu542Ter) GRCh37: Chr8:6302868 GRCh38: Chr8:6445347	MCPH1	L542, L540, L494, L508	not provided, Microcephaly 1, primary, autosomal recessive	Pathogenic/Likely pathogenic (Oct 31, 2018)	criteria provided, multiple submitters, no conflicts
Select item 54785868.	NM_024596.5(MCPH1):c.167A>G (p.Tyr56Cys) GRCh37: Chr8:6272338 GRCh38: Chr8:6414817	MCPH1	Y56C, Y22C, Y54C	Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jul 1, 2016)	criteria provided, single submitter
Select item 52393469.	NM_024596.5(MCPH1):c.321dup (p.Arg108fs) GRCh37: Chr8:6289098-6289099 GRCh38: Chr8:6431577-6431578	MCPH1	R106fs, R108fs, R74fs	not provided, Microcephaly 1, primary, autosomal recessive	Pathogenic (May 13, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49974670.	NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr) GRCh37: Chr8:6302592 GRCh38: Chr8:6445071	MCPH1	K450T, K402T, K416T, K448T	not provided, Microcephaly 1, primary, autosomal recessive	Conflicting interpretations of pathogenicity (May 1, 2023)	criteria provided, conflicting interpretations
Select item 49942371.	NM_024596.5(MCPH1):c.1214T>C (p.Leu405Pro) GRCh37: Chr8:6302457 GRCh38: Chr8:6444936	MCPH1	L405P, L371P, L403P, L357P	not provided, Microcephaly 1, primary, autosomal recessive, not specified	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 43583872.	NM_024596.5(MCPH1):c.22+2_22+4del GRCh37: Chr8:6264212-6264214 GRCh38: Chr8:6406691-6406693	MCPH1		Microcephaly 1, primary, autosomal recessive	Pathogenic (May 4, 2016)	criteria provided, single submitter
Select item 43583673.	NM_024596.5(MCPH1):c.2210C>G (p.Ala737Gly) GRCh37: Chr8:6357446 GRCh38: Chr8:6499925	ANGPT2, MCPH1	A737G	Microcephaly 1, primary, autosomal recessive, Inborn genetic diseases, not specified, not provided	Uncertain significance (Nov 29, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43583574.	NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs) GRCh37: Chr8:6312761-6312762 GRCh38: Chr8:6455240-6455241	MCPH1	R642fs	Autosomal recessive primary microcephaly, Microcephaly 1, primary, autosomal recessive	Likely pathogenic (Sep 5, 2019)	criteria provided, multiple submitters, no conflicts
Select item 43583475.	NM_024596.5(MCPH1):c.1188C>A (p.His396Gln) GRCh37: Chr8:6302431 GRCh38: Chr8:6444910	MCPH1	H396Q, H348Q, H394Q, H362Q	not specified, Microcephaly 1, primary, autosomal recessive, not provided	Uncertain significance (Mar 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 43583276.	NM_024596.5(MCPH1):c.1785T>C (p.Ser595=) GRCh37: Chr8:6303028 GRCh38: Chr8:6445507	MCPH1		not provided, Microcephaly 1, primary, autosomal recessive, not specified	Conflicting interpretations of pathogenicity (Feb 1, 2023)	criteria provided, conflicting interpretations
Select item 43186777.	NM_024596.5(MCPH1):c.2105C>T (p.Ala702Val) GRCh37: Chr8:6338366 GRCh38: Chr8:6480845	MCPH1	A702V	Inborn genetic diseases, not provided, Microcephaly 1, primary, autosomal recessive	Uncertain significance (May 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 42068178.	NM_024596.5(MCPH1):c.1974-2A>G GRCh37: Chr8:6338233 GRCh38: Chr8:6480712	MCPH1		Microcephaly 1, primary, autosomal recessive, not provided	Conflicting interpretations of pathogenicity (Oct 8, 2022)	criteria provided, conflicting interpretations
Select item 36357379.	NM_024596.5(MCPH1):c.*502T>C GRCh37: Chr8:6501072 GRCh38: Chr8:6643551	MCPH1, MCPH1-AS1		Microcephaly 1, primary, autosomal recessive	Benign (Jan 13, 2018)	criteria provided, single submitter
Select item 36357280.	NM_024596.5(MCPH1):c.*457C>G GRCh37: Chr8:6501027 GRCh38: Chr8:6643506	MCPH1, MCPH1-AS1		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36357181.	NM_024596.5(MCPH1):c.*412C>T GRCh37: Chr8:6500982 GRCh38: Chr8:6643461	MCPH1, MCPH1-AS1		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36357082.	NM_024596.5(MCPH1):c.*285G>A GRCh37: Chr8:6500855 GRCh38: Chr8:6643334	MCPH1, MCPH1-AS1		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36356983.	NM_024596.5(MCPH1):c.*277A>C GRCh37: Chr8:6500847 GRCh38: Chr8:6643326	MCPH1, MCPH1-AS1		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36356884.	NM_024596.5(MCPH1):c.*199G>A GRCh37: Chr8:6500769 GRCh38: Chr8:6643248	MCPH1, MCPH1-AS1		Microcephaly 1, primary, autosomal recessive, not provided	Likely benign (Oct 16, 2020)	criteria provided, multiple submitters, no conflicts
Select item 36356785.	NM_024596.5(MCPH1):c.*181C>G GRCh37: Chr8:6500751 GRCh38: Chr8:6643230	MCPH1, MCPH1-AS1		not provided, Microcephaly 1, primary, autosomal recessive	Benign (Jun 26, 2018)	criteria provided, multiple submitters, no conflicts
Select item 36356586.	NM_024596.5(MCPH1):c.*86A>G GRCh37: Chr8:6500656 GRCh38: Chr8:6643135	MCPH1, MCPH1-AS1		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36356487.	NM_024596.5(MCPH1):c.*38C>G GRCh37: Chr8:6500608 GRCh38: Chr8:6643087	MCPH1, MCPH1-AS1		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36356388.	NM_024596.5(MCPH1):c.2395C>T (p.Pro799Ser) GRCh37: Chr8:6479155 GRCh38: Chr8:6621634	MCPH1, MCPH1-AS1	P799S, P706S	Microcephaly 1, primary, autosomal recessive, not provided	Conflicting interpretations of pathogenicity (Jul 6, 2022)	criteria provided, conflicting interpretations
Select item 36356289.	NM_024596.5(MCPH1):c.2294C>G (p.Ser765Trp) GRCh37: Chr8:6479054 GRCh38: Chr8:6621533	MCPH1, MCPH1-AS1	S765W, S672W	Microcephaly 1, primary, autosomal recessive, not provided, Inborn genetic diseases	Uncertain significance (Oct 24, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36353190.	NM_024596.5(MCPH1):c.1987G>A (p.Val663Ile) GRCh37: Chr8:6338248 GRCh38: Chr8:6480727	MCPH1	V663I	Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 36353091.	NM_024596.5(MCPH1):c.1876G>A (p.Gly626Ser) GRCh37: Chr8:6312714 GRCh38: Chr8:6455193	MCPH1	G626S	Microcephaly 1, primary, autosomal recessive, not provided	Conflicting interpretations of pathogenicity (Aug 31, 2022)	criteria provided, conflicting interpretations
Select item 36352992.	NM_024596.5(MCPH1):c.1825+14C>G GRCh37: Chr8:6303082 GRCh38: Chr8:6445561	MCPH1		Microcephaly 1, primary, autosomal recessive, not provided	Conflicting interpretations of pathogenicity (Apr 18, 2022)	criteria provided, conflicting interpretations
Select item 36352893.	NM_024596.5(MCPH1):c.1779G>C (p.Glu593Asp) GRCh37: Chr8:6303022 GRCh38: Chr8:6445501	MCPH1	E593D, E591D, E545D, E559D	not provided, Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jul 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 36352794.	NM_024596.5(MCPH1):c.1729G>A (p.Glu577Lys) GRCh37: Chr8:6302972 GRCh38: Chr8:6445451	MCPH1	E577K, E543K, E529K, E575K	Microcephaly 1, primary, autosomal recessive, Inborn genetic diseases	Uncertain significance (Dec 31, 2020)	criteria provided, multiple submitters, no conflicts
Select item 36352695.	NM_024596.5(MCPH1):c.1677A>G (p.Lys559=) GRCh37: Chr8:6302920 GRCh38: Chr8:6445399	MCPH1		Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter
Select item 36352596.	NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn) GRCh37: Chr8:6302646 GRCh38: Chr8:6445125	MCPH1	T468N, T466N, T420N, T434N	Microcephaly 1, primary, autosomal recessive, not specified, not provided	Conflicting interpretations of pathogenicity (Dec 7, 2021)	criteria provided, conflicting interpretations
Select item 36352497.	NM_024596.5(MCPH1):c.1291C>T (p.Pro431Ser) GRCh37: Chr8:6302534 GRCh38: Chr8:6445013	MCPH1	P431S, P429S, P383S, P397S	Inborn genetic diseases, Microcephaly 1, primary, autosomal recessive, not provided	Uncertain significance (May 22, 2023)	criteria provided, multiple submitters, no conflicts
Select item 36352398.	NM_024596.5(MCPH1):c.869A>T (p.Lys290Ile) GRCh37: Chr8:6302112 GRCh38: Chr8:6444591	MCPH1	K290I, K256I, K242I, K288I	not provided, Microcephaly 1, primary, autosomal recessive	Conflicting interpretations of pathogenicity (Aug 1, 2023)	criteria provided, conflicting interpretations
Select item 36352299.	NM_024596.5(MCPH1):c.706G>C (p.Asp236His) GRCh37: Chr8:6301949 GRCh38: Chr8:6444428	MCPH1	D236H, D188H, D234H, D202H	Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 13, 2018)	criteria provided, single submitter
Select item 363521100.	NM_024596.5(MCPH1):c.605A>G (p.His202Arg) GRCh37: Chr8:6299612 GRCh38: Chr8:6442091	MCPH1	H202R, H154R, H168R, H200R	Microcephaly 1, primary, autosomal recessive	Uncertain significance (Jan 12, 2018)	criteria provided, single submitter

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