ClinVar for MedGen (Select 373344) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3393037	NM_018136.5(ASPM):c.3599-1G>A	ASPM	Single nucleotide variant (splice acceptor variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 3391195	NM_018136.5(ASPM):c.3904G>T (p.Ala1302Ser)	ASPM (A1302S)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 3385334	NM_018136.5(ASPM):c.8720T>G (p.Leu2907Ter)	ASPM (L2907*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 3382981	NM_018136.5(ASPM):c.7543C>T (p.Arg2515Ter)	ASPM (R2515*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 3382845	NM_018136.5(ASPM):c.8450C>A (p.Ala2817Asp)	ASPM (A2817D)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 3382130	NM_018136.5(ASPM):c.8227C>T (p.Arg2743Ter)	ASPM (R2743*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 3382116	NM_018136.5(ASPM):c.5206C>T (p.Gln1736Ter)	ASPM (Q1736*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 3381868	NM_018136.5(ASPM):c.7850dup (p.Gln2620fs)	ASPM (Q2620fs)	Duplication (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 3377584	NM_018136.5(ASPM):c.10235T>C (p.Met3412Thr)	ASPM (M1827T +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 3377568	NM_018136.5(ASPM):c.2982del (p.Lys994fs)	ASPM (K994fs)	Deletion (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 3254709	NM_018136.5(ASPM):c.2715_2717delinsAATGAGTC (p.Ile906fs)	ASPM (I906fs)	Indel (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 3237166	NM_018136.5(ASPM):c.9664A>T (p.Lys3222Ter)	ASPM (K1637* +1 more)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 3234999	NM_018136.5(ASPM):c.3820C>T (p.Gln1274Ter)	ASPM (Q1274*)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 3234920	NM_018136.5(ASPM):c.10161+1_10161+2del	ASPM	Deletion (splice donor variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 3064892	NM_018136.5(ASPM):c.1598_1601del (p.Asn533fs)	ASPM (N533fs)	Microsatellite (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 3064181	NM_018136.5(ASPM):c.3742-1G>C	ASPM	Single nucleotide variant (splice acceptor variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 3064102	NM_018136.5(ASPM):c.2027-516G>T	ASPM	Single nucleotide variant (intron variant)	Microcephaly 5, primary, autosomal recessive	GLikely benign
Select item 3061948	NM_018136.5(ASPM):c.4039C>T (p.Gln1347Ter)	ASPM (Q1347*)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 2690547	NM_018136.5(ASPM):c.1485dup (p.Thr496fs)	ASPM (T496fs)	Duplication (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 2690546	NM_018136.5(ASPM):c.6811_6812del (p.Arg2271fs)	ASPM (R2271fs)	Microsatellite (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 2690545	NM_018136.5(ASPM):c.6548dup (p.Arg2184fs)	ASPM (R2184fs)	Duplication (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 2688620	NM_018136.5(ASPM):c.10118G>A (p.Cys3373Tyr)	ASPM (C1788Y +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2688619	NM_018136.5(ASPM):c.8740A>C (p.Ile2914Leu)	ASPM (I2914L)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2688618	NM_018136.5(ASPM):c.2389C>G (p.Arg797Gly)	ASPM (R797G)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2627051	NM_018136.5(ASPM):c.7811A>G (p.Lys2604Arg)	ASPM (K2604R)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2585579	NM_018136.5(ASPM):c.6808C>T (p.Gln2270Ter)	ASPM (Q2270*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 2585578	NM_018136.5(ASPM):c.326dup (p.Asn109fs)	ASPM (N109fs)	Duplication (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 2499539	NM_018136.5(ASPM):c.3879_3880del (p.Lys1294fs)	ASPM (K1294fs)	Microsatellite (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 2439266	NM_018136.5(ASPM):c.3577_3579delinsCCA (p.Ser1193Pro)	ASPM (S1193P)	Indel (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2439265	NM_018136.5(ASPM):c.441+5T>G	ASPM	Single nucleotide variant (intron variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2439264	NM_018136.5(ASPM):c.9309A>T (p.Arg3103Ser)	ASPM (R1518S +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2439263	NM_018136.5(ASPM):c.2583A>G (p.Ile861Met)	ASPM (I861M)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2439262	NM_018136.5(ASPM):c.9695T>C (p.Ile3232Thr)	ASPM (I1647T +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2439261	NM_018136.5(ASPM):c.6351C>T (p.His2117=)	ASPM	Single nucleotide variant (synonymous variant +1 more)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2439259	NM_018136.5(ASPM):c.1879C>T (p.Arg627Cys)	ASPM (R627C)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2439258	NM_018136.5(ASPM):c.3875G>A (p.Arg1292Lys)	ASPM (R1292K)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2439257	NM_018136.5(ASPM):c.9898T>C (p.Phe3300Leu)	ASPM (F1715L +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2439256	NM_018136.5(ASPM):c.3387A>T (p.Lys1129Asn)	ASPM (K1129N)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2439254	NM_018136.5(ASPM):c.5626G>A (p.Ala1876Thr)	ASPM (A1876T)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2439253	NM_018136.5(ASPM):c.4190C>T (p.Thr1397Ile)	ASPM (T1397I)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 2435488	NM_018136.5(ASPM):c.4515del (p.Lys1505fs)	ASPM (K1505fs)	Deletion (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 2431794	NM_018136.5(ASPM):c.1199del (p.Asn400fs)	ASPM (N400fs)	Deletion (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 2431363	NM_018136.5(ASPM):c.7748_7749del (p.Ile2583fs)	ASPM (I2583fs)	Deletion (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 2431058	NM_018136.5(ASPM):c.2783del (p.Ala928fs)	ASPM (A928fs)	Deletion (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 2231517	NM_018136.5(ASPM):c.4123A>G (p.Ile1375Val)	ASPM (I1375V)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GConflicting classifications of pathogenicity
Select item 2227565	NM_018136.5(ASPM):c.6005A>G (p.Lys2002Arg)	ASPM (K2002R)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 2227167	NM_018136.5(ASPM):c.4148T>C (p.Met1383Thr)	ASPM (M1383T)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 2210590	NM_018136.5(ASPM):c.5842C>T (p.Arg1948Cys)	ASPM (R1948C)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 2210393	NM_018136.5(ASPM):c.10165G>A (p.Val3389Ile)	ASPM (V1804I +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 2190933	NM_018136.5(ASPM):c.2642C>T (p.Ala881Val)	ASPM (A881V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2188606	NM_018136.5(ASPM):c.639A>G (p.Ile213Met)	ASPM (I213M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2182227	NM_018136.5(ASPM):c.1095T>G (p.Ile365Met)	ASPM (I365M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2180478	NM_018136.5(ASPM):c.4157C>T (p.Ala1386Val)	ASPM (A1386V)	Single nucleotide variant (missense variant +1 more)	ASPM-related disorder +2 more	GUncertain significance
Select item 2180477	NM_018136.5(ASPM):c.9250G>A (p.Val3084Ile)	ASPM (V3084I +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +3 more	GUncertain significance
Select item 2176291	NM_018136.5(ASPM):c.7502A>G (p.Gln2501Arg)	ASPM (Q2501R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2158261	NM_018136.5(ASPM):c.1885A>G (p.Ser629Gly)	ASPM (S629G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2082090	NM_018136.5(ASPM):c.6015_6016del (p.Arg2005fs)	ASPM (R2005fs)	Deletion (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GPathogenic
Select item 2075532	NM_018136.5(ASPM):c.5929A>T (p.Ile1977Leu)	ASPM (I1977L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2060866	NM_018136.5(ASPM):c.5975_5983del (p.Ile1992_Lys1994del)	ASPM	Deletion (inframe_deletion +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1958054	NM_018136.5(ASPM):c.7885ATT[2] (p.Ile2631del)	ASPM (I2631del)	Microsatellite (inframe_deletion +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 1917093	NM_018136.5(ASPM):c.7832G>A (p.Gly2611Asp)	ASPM (G2611D)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1912821	NM_018136.5(ASPM):c.4556A>G (p.Lys1519Arg)	ASPM (K1519R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1897883	NM_018136.5(ASPM):c.8539C>G (p.Leu2847Val)	ASPM (L2847V)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 1806357	NM_018136.5(ASPM):c.8615C>T (p.Thr2872Met)	ASPM (T2872M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1806254	NM_018136.5(ASPM):c.7937A>G (p.His2646Arg)	ASPM (H2646R)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 1806107	NM_018136.5(ASPM):c.3232A>T (p.Ser1078Cys)	ASPM (S1078C)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 1805120	NM_018136.5(ASPM):c.5600C>A (p.Thr1867Lys)	ASPM (T1867K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1710439	NM_018136.5(ASPM):c.1823_1824del (p.Glu608fs)	ASPM (E608fs)	Microsatellite (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 1709449	NM_018136.5(ASPM):c.1505C>G (p.Ala502Gly)	ASPM (A502G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1705429	NM_018136.5(ASPM):c.532del (p.Thr178fs)	ASPM (T178fs)	Deletion (frameshift variant)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 1705292	NM_018136.5(ASPM):c.4938dup (p.Gln1647fs)	ASPM (Q1647fs)	Duplication (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 1704817	NM_018136.5(ASPM):c.9455G>A (p.Arg3152Gln)	ASPM (R1567Q +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1698996	NM_018136.5(ASPM):c.2629+3A>G	ASPM	Single nucleotide variant (intron variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 1698988	NM_018136.5(ASPM):c.8191G>T (p.Glu2731Ter)	ASPM (E2731*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 1697236	NM_001371596.2(MFSD8):c.699-1G>A	MFSD8	Single nucleotide variant (intron variant +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GPathogenic
Select item 1679840	NM_018136.5(ASPM):c.9450G>A (p.Trp3150Ter)	ASPM (W1565* +1 more)	Single nucleotide variant (nonsense)	Microcephaly 5, primary, autosomal recessive	GPathogenic
Select item 1679839	NM_018136.5(ASPM):c.3067T>G (p.Leu1023Val)	ASPM (L1023V)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive	GUncertain significance
Select item 1679322	NM_018136.5(ASPM):c.4995T>A (p.Tyr1665Ter)	ASPM (Y1665*)	Single nucleotide variant (nonsense +1 more)	Autosomal recessive primary microcephaly +1 more	GLikely pathogenic
Select item 1678770	NM_018136.5(ASPM):c.6851C>T (p.Ser2284Phe)	ASPM (S2284F)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 1675190	NM_018136.5(ASPM):c.6115_6118del (p.Lys2038_Arg2039insTer)	ASPM	Deletion (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive	GLikely pathogenic
Select item 1524012	NM_018136.5(ASPM):c.5333T>C (p.Ile1778Thr)	ASPM (I1778T)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
Select item 1522555	NM_018136.5(ASPM):c.1429G>T (p.Asp477Tyr)	ASPM (D477Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1519845	NM_018136.5(ASPM):c.7235C>A (p.Thr2412Asn)	ASPM (T2412N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1511123	NM_018136.5(ASPM):c.8045G>A (p.Arg2682Gln)	ASPM (R2682Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1501370	NM_018136.5(ASPM):c.1474A>G (p.Ile492Val)	ASPM (I492V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1486541	NM_018136.5(ASPM):c.9593G>A (p.Arg3198His)	ASPM (R1613H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1479769	NM_018136.5(ASPM):c.5572T>A (p.Tyr1858Asn)	ASPM (Y1858N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1475919	NM_018136.5(ASPM):c.6583C>T (p.Leu2195Phe)	ASPM (L2195F)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1472408	NM_018136.5(ASPM):c.7544G>A (p.Arg2515Gln)	ASPM (R2515Q)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 1456095	NM_018136.5(ASPM):c.4707C>A (p.Tyr1569Ter)	ASPM (Y1569*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 1454430	NM_018136.5(ASPM):c.6854_6855del (p.Leu2285fs)	ASPM (L2285fs)	Microsatellite (frameshift variant +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GPathogenic/Likely pathogenic
Select item 1445122	NM_018136.5(ASPM):c.4444C>T (p.Arg1482Trp)	ASPM (R1482W)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 1419435	NM_018136.5(ASPM):c.6919C>A (p.Gln2307Lys)	ASPM (Q2307K)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +2 more	GUncertain significance
Select item 1401033	NM_018136.5(ASPM):c.4360A>G (p.Arg1454Gly)	ASPM (R1454G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1390578	NM_018136.5(ASPM):c.6381T>A (p.Phe2127Leu)	ASPM (F2127L)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
Select item 1375337	NM_018136.5(ASPM):c.6466G>T (p.Gly2156Cys)	ASPM (G2156C)	Single nucleotide variant (missense variant +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
Select item 1345972	NM_018136.5(ASPM):c.10222C>T (p.His3408Tyr)	ASPM (H1823Y +1 more)	Single nucleotide variant (missense variant)	Microcephaly 5, primary, autosomal recessive +1 more	GUncertain significance
Select item 1339592	NM_018136.5(ASPM):c.10055_10056insGG (p.Ile3352fs)	ASPM (I1767fs +1 more)	Insertion (frameshift variant)	Microcephaly 5, primary, autosomal recessive +1 more	GPathogenic
Select item 1338429	NM_018136.5(ASPM):c.4612C>T (p.Arg1538Ter)	ASPM (R1538*)	Single nucleotide variant (nonsense +1 more)	Microcephaly 5, primary, autosomal recessive +1 more	GPathogenic
Select item 1338327	NM_018136.5(ASPM):c.4066-32T>C	ASPM	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign

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