ClinVar for MedGen (Select 344415) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065084	NM_024596.5(MCPH1):c.2214+13834T>G	ANGPT2, MCPH1 (K319Q +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 2433680	NM_024596.5(MCPH1):c.1244A>G (p.Tyr415Cys)	MCPH1 (Y367C +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 2433679	NM_024596.5(MCPH1):c.355A>G (p.Lys119Glu)	MCPH1 (K117E +2 more)	Single nucleotide variant (missense variant)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 2431739	NM_024596.5(MCPH1):c.2214+1G>A	MCPH1, ANGPT2	Single nucleotide variant (3 prime UTR variant +2 more)	Microcephaly 1, primary, autosomal recessive	GLikely pathogenic
Select item 1805631	NM_024596.5(MCPH1):c.208C>T (p.Leu70Phe)	MCPH1 (L36F +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 1805540	NM_024596.5(MCPH1):c.1844C>G (p.Thr615Arg)	MCPH1 (T615R)	Single nucleotide variant (missense variant)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 1805430	NM_024596.5(MCPH1):c.1935+6T>C	MCPH1	Single nucleotide variant (intron variant)	Microcephaly 1, primary, autosomal recessive +1 more	GUncertain significance
Select item 1705328	NM_024596.5(MCPH1):c.477del (p.Ser159_Leu160insTer)	MCPH1	Deletion (frameshift variant +3 more)	Microcephaly 1, primary, autosomal recessive	GPathogenic
Select item 1696523	NM_024596.5(MCPH1):c.2400C>A (p.Tyr800Ter)	MCPH1, MCPH1-AS1 (Y707* +1 more)	Single nucleotide variant (nonsense)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 1631780	NM_024596.5(MCPH1):c.2215-19_2215-18delinsGC	MCPH1, MCPH1-AS1	Indel (intron variant +1 more)	Microcephaly 1, primary, autosomal recessive +1 more	GLikely benign
Select item 1409670	NM_024596.5(MCPH1):c.1477C>T (p.Arg493Cys)	MCPH1 (R459C +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +1 more	GUncertain significance
Select item 1333562	NM_024596.5(MCPH1):c.1430C>T (p.Thr477Ile)	MCPH1 (T429I +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +1 more	GUncertain significance
Select item 1333265	NM_024596.5(MCPH1):c.135A>C (p.Lys45Asn)	MCPH1 (K11N +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +1 more	GUncertain significance
Select item 1324709	NM_024596.5(MCPH1):c.2127_2128del (p.Ser709_Tyr710insTer)	MCPH1	Deletion (frameshift variant +1 more)	Microcephaly 1, primary, autosomal recessive	GLikely pathogenic
Select item 1324707	NM_024596.5(MCPH1):c.2221C>T (p.Arg741Ter)	MCPH1, MCPH1-AS1 (R648* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1174812	NM_024596.5(MCPH1):c.513G>T (p.Arg171Ser)	MCPH1 (R137S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GBenign
Select item 1065484	NM_024596.5(MCPH1):c.143C>T (p.Thr48Ile)	MCPH1 (T14I +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive	GLikely pathogenic
Select item 1032179	NM_024596.5(MCPH1):c.151A>G (p.Ile51Val)	MCPH1 (I49V +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 1032178	NM_024596.5(MCPH1):c.149T>G (p.Val50Gly)	MCPH1 (V48G +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 1028326	NM_024596.5(MCPH1):c.1281G>T (p.Glu427Asp)	MCPH1 (E425D +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 1028113	NM_018451.5(CENPJ):c.3737C>T (p.Thr1246Met)	CENPJ, RNF17 (T1246M)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 997786	NM_024596.5(MCPH1):c.64G>A (p.Glu22Lys)	MCPH1 (E20K +1 more)	Single nucleotide variant (missense variant +2 more)	Microcephaly 1, primary, autosomal recessive	GLikely pathogenic
Select item 987894	NM_024596.5(MCPH1):c.586del (p.Gln196fs)	MCPH1 (Q148fs +3 more)	Deletion (frameshift variant +1 more)	Microcephaly 1, primary, autosomal recessive	GPathogenic
Select item 982600	NM_024596.5(MCPH1):c.23-1G>C	MCPH1	Single nucleotide variant (splice acceptor variant +1 more)	Microcephaly 1, primary, autosomal recessive	GLikely pathogenic
Select item 975288	NM_024596.5(MCPH1):c.2257G>A (p.Gly753Arg)	MCPH1, MCPH1-AS1 (G660R +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 931382	NM_024596.5(MCPH1):c.2002del (p.Asp668fs)	MCPH1 (D668fs)	Deletion (frameshift variant +1 more)	Microcephaly 1, primary, autosomal recessive	GLikely pathogenic
Select item 916001	GRCh37/hg19 8p23.1(chr8:6261036-6312712)	MCPH1	Copy number loss	Microcephaly 1, primary, autosomal recessive	GPathogenic
Select item 916000	GRCh37/hg19 8p23.2-23.1(chr8:6160874-6500521)	MCPH1, ANGPT2	Copy number loss	Microcephaly 1, primary, autosomal recessive	GPathogenic
Select item 912306	NM_024596.5(MCPH1):c.*433C>G	MCPH1, MCPH1-AS1	Single nucleotide variant (3 prime UTR variant)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 912305	NM_024596.5(MCPH1):c.*388G>T	MCPH1, MCPH1-AS1	Single nucleotide variant (3 prime UTR variant)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 912304	NM_024596.5(MCPH1):c.*388G>C	MCPH1, MCPH1-AS1	Single nucleotide variant (3 prime UTR variant)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 912303	NM_024596.5(MCPH1):c.*295A>C	MCPH1, MCPH1-AS1	Single nucleotide variant (3 prime UTR variant)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 912107	NM_024596.5(MCPH1):c.2078G>A (p.Arg693His)	MCPH1 (R693H)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 912106	NM_024596.5(MCPH1):c.1986C>G (p.Val662=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 1, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 912105	NM_024596.5(MCPH1):c.1956G>A (p.Met652Ile)	MCPH1 (M652I)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 912055	NM_024596.5(MCPH1):c.1069A>C (p.Lys357Gln)	MCPH1 (K309Q +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 912054	NM_024596.5(MCPH1):c.1052G>T (p.Ser351Ile)	MCPH1 (S351I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 912053	NM_024596.5(MCPH1):c.1026C>T (p.His342=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 1, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 911997	NM_024596.5(MCPH1):c.340A>G (p.Lys114Glu)	MCPH1 (K114E +2 more)	Single nucleotide variant (missense variant)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 911996	NM_024596.5(MCPH1):c.192G>A (p.Gln64=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 911070	NM_024596.5(MCPH1):c.*129C>T	MCPH1, MCPH1-AS1	Single nucleotide variant (3 prime UTR variant)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 911069	NM_024596.5(MCPH1):c.*122T>A	MCPH1, MCPH1-AS1	Single nucleotide variant (3 prime UTR variant)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 911068	NM_024596.5(MCPH1):c.*64T>C	MCPH1, MCPH1-AS1	Single nucleotide variant (3 prime UTR variant)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 910778	NM_024596.5(MCPH1):c.-39G>A	MCPH1	Single nucleotide variant (5 prime UTR variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 910186	NM_024596.5(MCPH1):c.2462C>T (p.Thr821Ile)	MCPH1, MCPH1-AS1 (T728I +1 more)	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 910185	NM_024596.5(MCPH1):c.2435C>G (p.Ser812Cys)	MCPH1, MCPH1-AS1 (S719C +1 more)	Single nucleotide variant (missense variant)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 910184	NM_024596.5(MCPH1):c.2417C>T (p.Ala806Val)	MCPH1, MCPH1-AS1 (A713V +1 more)	Single nucleotide variant (missense variant)	Microcephaly 1, primary, autosomal recessive +1 more	GUncertain significance
Select item 909992	NM_024596.5(MCPH1):c.1589A>T (p.Glu530Val)	MCPH1 (E496V +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GUncertain significance
Select item 909931	NM_024596.5(MCPH1):c.729A>T (p.Gly243=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 909930	NM_024596.5(MCPH1):c.641T>G (p.Leu214Trp)	MCPH1 (L180W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 909151	NM_024596.5(MCPH1):c.1390G>A (p.Val464Ile)	MCPH1 (V464I +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +1 more	GUncertain significance
Select item 909150	NM_024596.5(MCPH1):c.1298C>A (p.Ser433Tyr)	MCPH1 (S433Y +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 909149	NM_024596.5(MCPH1):c.1226A>T (p.Glu409Val)	MCPH1 (E361V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 909076	NM_024596.5(MCPH1):c.561G>T (p.Arg187Ser)	MCPH1 (R153S +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 909075	NM_024596.5(MCPH1):c.502A>G (p.Ile168Val)	MCPH1 (I168V +2 more)	Single nucleotide variant (missense variant +2 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 908237	NM_024596.5(MCPH1):c.2254C>G (p.Arg752Gly)	MCPH1, MCPH1-AS1 (R752G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Microcephaly 1, primary, autosomal recessive +1 more	GUncertain significance
Select item 908101	NM_024596.5(MCPH1):c.2199C>G (p.His733Gln)	ANGPT2, MCPH1 (H733Q)	Single nucleotide variant (3 prime UTR variant +2 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 908100	NM_001118887.2(ANGPT2):c.*3256G>A	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 873472	NM_024596.5(MCPH1):c.2214+2T>C	ANGPT2, MCPH1	Single nucleotide variant (3 prime UTR variant +2 more)	Microcephaly 1, primary, autosomal recessive +1 more	GConflicting classifications of pathogenicity
Select item 813531	NM_024596.5(MCPH1):c.148G>A (p.Val50Ile)	MCPH1 (V16I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 731332	NM_024596.5(MCPH1):c.652C>T (p.Arg218Cys)	MCPH1 (R184C +3 more)	Single nucleotide variant (missense variant +1 more)	MCPH1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 727404	NM_024596.5(MCPH1):c.1233A>G (p.Ser411=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 713228	NM_024596.5(MCPH1):c.489T>C (p.Thr163=)	MCPH1	Single nucleotide variant (synonymous variant +2 more)	MCPH1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 694722	NM_018136.5(ASPM):c.8200_8201del (p.Asn2734fs)	ASPM (N2734fs)	Deletion (frameshift variant +1 more)	Microcephaly 1, primary, autosomal recessive	GPathogenic
Select item 694714	NM_018136.5(ASPM):c.5863dup (p.Gln1955fs)	ASPM (Q1955fs)	Duplication (frameshift variant +1 more)	Microcephaly 1, primary, autosomal recessive	GPathogenic
Select item 638518	NM_024596.5(MCPH1):c.1725_1727del (p.Glu575_Gly576delinsAsp)	MCPH1	Deletion (inframe_indel +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 632028	NM_024596.5(MCPH1):c.322-1G>C	MCPH1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 586140	NM_024596.5(MCPH1):c.1625T>G (p.Leu542Ter)	MCPH1 (L542* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 547858	NM_024596.5(MCPH1):c.167A>G (p.Tyr56Cys)	MCPH1 (Y56C +2 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 523934	NM_024596.5(MCPH1):c.321dup (p.Arg108fs)	MCPH1 (R106fs +2 more)	Duplication (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 499746	NM_024596.5(MCPH1):c.1349A>C (p.Lys450Thr)	MCPH1 (K450T +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 499423	NM_024596.5(MCPH1):c.1214T>C (p.Leu405Pro)	MCPH1 (L405P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 435838	NM_024596.5(MCPH1):c.22+2_22+4del	MCPH1	Deletion (splice donor variant)	Microcephaly 1, primary, autosomal recessive	GPathogenic
Select item 435836	NM_024596.5(MCPH1):c.2210C>G (p.Ala737Gly)	MCPH1, ANGPT2 (A737G)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified +3 more	GUncertain significance
Select item 435835	NM_024596.5(MCPH1):c.1924_1925insCA (p.Arg642fs)	MCPH1 (R642fs)	Insertion (frameshift variant)	Autosomal recessive primary microcephaly +1 more	GLikely pathogenic
Select item 435834	NM_024596.5(MCPH1):c.1188C>A (p.His396Gln)	MCPH1 (H396Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 435832	NM_024596.5(MCPH1):c.1785T>C (p.Ser595=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 431867	NM_024596.5(MCPH1):c.2105C>T (p.Ala702Val)	MCPH1 (A702V)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GUncertain significance
Select item 420681	NM_024596.5(MCPH1):c.1974-2A>G	MCPH1	Single nucleotide variant (splice acceptor variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 363573	NM_024596.5(MCPH1):c.*502T>C	MCPH1, MCPH1-AS1	Single nucleotide variant (3 prime UTR variant)	Microcephaly 1, primary, autosomal recessive	GBenign
Select item 363572	NM_024596.5(MCPH1):c.*457C>G	MCPH1, MCPH1-AS1	Single nucleotide variant (3 prime UTR variant)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 363571	NM_024596.5(MCPH1):c.*412C>T	MCPH1, MCPH1-AS1	Single nucleotide variant (3 prime UTR variant)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 363570	NM_024596.5(MCPH1):c.*285G>A	MCPH1, MCPH1-AS1	Single nucleotide variant (3 prime UTR variant)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 363569	NM_024596.5(MCPH1):c.*277A>C	MCPH1, MCPH1-AS1	Single nucleotide variant (3 prime UTR variant)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 363568	NM_024596.5(MCPH1):c.*199G>A	MCPH1, MCPH1-AS1	Single nucleotide variant (3 prime UTR variant)	Microcephaly 1, primary, autosomal recessive +1 more	GLikely benign
Select item 363567	NM_024596.5(MCPH1):c.*181C>G	MCPH1, MCPH1-AS1	Single nucleotide variant (3 prime UTR variant)	Microcephaly 1, primary, autosomal recessive +1 more	GBenign
Select item 363565	NM_024596.5(MCPH1):c.*86A>G	MCPH1, MCPH1-AS1	Single nucleotide variant (3 prime UTR variant)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 363564	NM_024596.5(MCPH1):c.*38C>G	MCPH1, MCPH1-AS1	Single nucleotide variant (3 prime UTR variant)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 363563	NM_024596.5(MCPH1):c.2395C>T (p.Pro799Ser)	MCPH1, MCPH1-AS1 (P799S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 363562	NM_024596.5(MCPH1):c.2294C>G (p.Ser765Trp)	MCPH1, MCPH1-AS1 (S765W +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GUncertain significance
Select item 363531	NM_024596.5(MCPH1):c.1987G>A (p.Val663Ile)	MCPH1 (V663I)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance
Select item 363530	NM_024596.5(MCPH1):c.1876G>A (p.Gly626Ser)	MCPH1 (G626S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 363529	NM_024596.5(MCPH1):c.1825+14C>G	MCPH1	Single nucleotide variant (3 prime UTR variant +2 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 363528	NM_024596.5(MCPH1):c.1779G>C (p.Glu593Asp)	MCPH1 (E593D +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 363527	NM_024596.5(MCPH1):c.1729G>A (p.Glu577Lys)	MCPH1 (E577K +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +1 more	GUncertain significance
Select item 363526	NM_024596.5(MCPH1):c.1677A>G (p.Lys559=)	MCPH1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 363525	NM_024596.5(MCPH1):c.1403C>A (p.Thr468Asn)	MCPH1 (T468N +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 363524	NM_024596.5(MCPH1):c.1291C>T (p.Pro431Ser)	MCPH1 (P431S +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GUncertain significance
Select item 363523	NM_024596.5(MCPH1):c.869A>T (p.Lys290Ile)	MCPH1 (K290I +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 363522	NM_024596.5(MCPH1):c.706G>C (p.Asp236His)	MCPH1 (D236H +3 more)	Single nucleotide variant (missense variant +1 more)	Microcephaly 1, primary, autosomal recessive	GUncertain significance

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