ClinVar for MedGen (Select 777995) - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3896394	NC_000019.9:g.(36550933_36556859)_(36564434_36572334)del	WDR62	Deletion	Autosomal recessive primary microcephaly	GPathogenic
Select item 3780689	NM_005645.4(TAF13):c.27+4A>C	TAF13	Single nucleotide variant (intron variant)	Autosomal recessive primary microcephaly	GUncertain significance
Select item 3384969	NM_018136.5(ASPM):c.6107_6110del (p.Val2036fs)	ASPM (V2036fs)	Deletion (frameshift variant +1 more)	Autosomal recessive primary microcephaly	GPathogenic
Select item 3336245	NC_000019.9:g.(36564434_36572334)_(36575647_36577588)del	WDR62	Deletion	Autosomal recessive primary microcephaly	GPathogenic
Select item 2826934	NM_024596.5(MCPH1):c.595C>T (p.Gln199Ter)	MCPH1 (Q151* +3 more)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive primary microcephaly +1 more	GPathogenic
Select item 2691298	NM_024596.5(MCPH1):c.698C>A (p.Ser233Ter)	MCPH1 (S185* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 2581671	NM_018136.5(ASPM):c.8195_8196del (p.Arg2732fs)	ASPM (R2732fs)	Deletion (frameshift variant +1 more)	Autosomal recessive primary microcephaly	GPathogenic
Select item 2581189	NM_024596.5(MCPH1):c.2404G>T (p.Gly802Ter)	MCPH1-AS1, MCPH1 (G709* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive primary microcephaly	GPathogenic
Select item 2506054	NM_024596.4(MCPH1):c.1974_1977delAAAG	MCPH1	Deletion (intron variant)	Autosomal recessive primary microcephaly	GPathogenic
Select item 2501251	NM_024596.5(MCPH1):c.2136+1G>T	MCPH1	Single nucleotide variant (splice donor variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2500967	NM_022095.4(ZNF335):c.201+85G>A	ZNF335	Single nucleotide variant (intron variant)	Autosomal recessive primary microcephaly	GUncertain significance
Select item 2445927	NM_024596.5(MCPH1):c.625_626del (p.Leu209fs)	MCPH1 (L161fs +3 more)	Microsatellite (frameshift variant +1 more)	Autosomal recessive primary microcephaly	GLikely pathogenic
Select item 2429172	NM_001083961.2(WDR62):c.269+1G>T	WDR62	Single nucleotide variant (splice donor variant)	Microcephaly 2, primary, autosomal recessive, with or without cortical malformations +1 more	GLikely pathogenic
Select item 1705042	NM_024596.5(MCPH1):c.1978C>T (p.Gln660Ter)	MCPH1 (Q660*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive primary microcephaly	GLikely pathogenic
Select item 1696389	NM_024596.5(MCPH1):c.2410A>T (p.Lys804Ter)	MCPH1, MCPH1-AS1 (K711* +1 more)	Single nucleotide variant (nonsense)	Autosomal recessive primary microcephaly	GLikely pathogenic
Select item 1679322	NM_018136.5(ASPM):c.4995T>A (p.Tyr1665Ter)	ASPM (Y1665*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GLikely pathogenic
Select item 970257	NM_024596.5(MCPH1):c.2362C>T (p.Gln788Ter)	MCPH1, MCPH1-AS1 (Q695* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Microcephaly 1, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 631585	NM_018136.5(ASPM):c.4849C>T (p.Arg1617Ter)	ASPM (R1617*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GPathogenic
Select item 517208	NM_018136.5(ASPM):c.4720C>T (p.Gln1574Ter)	ASPM (Q1574*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive primary microcephaly	GLikely pathogenic
Select item 452686	NM_018136.5(ASPM):c.9294+2T>C	ASPM	Single nucleotide variant (splice donor variant)	Microcephaly 5, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
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 432552	NM_018136.5(ASPM):c.1697C>A (p.Ser566Ter)	ASPM (S566*)	Single nucleotide variant (nonsense)	Autosomal recessive primary microcephaly +1 more	GPathogenic
Select item 285523	NM_024596.5(MCPH1):c.2145G>A (p.Trp715Ter)	MCPH1, ANGPT2 (W715*)	Single nucleotide variant (3 prime UTR variant +2 more)	Autosomal recessive primary microcephaly +2 more	GConflicting classifications of pathogenicity
Select item 252994	NM_001206999.2(CIT):c.473C>G (p.Pro158Arg)	CIT (P158R)	Single nucleotide variant (missense variant)	Autosomal recessive primary microcephaly	GPathogenic
Select item 252993	NM_001206999.2(CIT):c.412C>T (p.Gln138Ter)	CIT (Q138*)	Single nucleotide variant (nonsense)	Autosomal recessive primary microcephaly	GPathogenic
Select item 252992	NM_001206999.2(CIT):c.1111+1G>A	CIT	Single nucleotide variant (splice donor variant)	Microcephaly 17, primary, autosomal recessive	GPathogenic
Select item 221283	NM_001206999.2(CIT):c.29_38del (p.Asn10fs)	CIT (N10fs)	Deletion (frameshift variant)	Microcephaly 17, primary, autosomal recessive	GLikely pathogenic
Select item 210670	NM_018451.5(CPAP):c.898_899del (p.Glu300fs)	CPAP (E300fs)	Deletion (frameshift variant +1 more)	Seckel syndrome 4 +1 more	GPathogenic/Likely pathogenic
Select item 158830	NM_024596.5(MCPH1):c.1869_1870del (p.Ser623_Cys624insTer)	MCPH1	Deletion (frameshift variant)	Autosomal recessive primary microcephaly +2 more	GPathogenic/Likely pathogenic
Select item 157867	NM_018136.5(ASPM):c.7160_7161del (p.Ser2387fs)	ASPM (S2387fs)	Microsatellite (frameshift variant +1 more)	Autosomal recessive primary microcephaly +2 more	GPathogenic/Likely pathogenic
Select item 157795	NM_018136.5(ASPM):c.2419+2T>C	ASPM	Single nucleotide variant (splice donor variant)	Autosomal recessive primary microcephaly +2 more	GPathogenic/Likely pathogenic
Select item 30641	NM_024596.5(MCPH1):c.215C>T (p.Ser72Leu)	MCPH1 (S72L +2 more)	Single nucleotide variant (missense variant +1 more)	Autosomal recessive primary microcephaly +2 more	GPathogenic/Likely pathogenic
Select item 21582	NM_018136.5(ASPM):c.3796G>T (p.Glu1266Ter)	ASPM (E1266*)	Single nucleotide variant (nonsense)	Microcephaly +3 more	GPathogenic
Select item 4960	NM_018136.5(ASPM):c.9178C>T (p.Gln3060Ter)	ASPM (Q3060* +1 more)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive +3 more	GPathogenic
Select item 41	NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys)	WDR62 (E526K)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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Items: 35