ASPM — 2124 ClinVar variants

Pathogenic 247

• p.Ala3113fs Multiple submitters
• p.Arg1271Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg1315fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg1392Ter Multiple submitters developmental and epileptic encephalopathy 116
• p.Arg1416_Tyr1417insTer Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg1538Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg1578Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg1599Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg1617Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg1745Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg2005fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg2078Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg2229fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg2332Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg243Ter Multiple submitters microcephaly
• p.Arg2700Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg3031Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg3064Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg3244Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg3304Ter Multiple submitters Inborn genetic diseases
• p.Arg3390Ter Multiple submitters Inborn genetic diseases
• p.Arg597Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg797Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg931Ter Multiple submitters developmental and epileptic encephalopathy 116
• p.Arg980Ter Multiple submitters microcephaly 1, primary, autosomal recessive
• p.Asn394fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Asn653fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Asp990fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Cys1732Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Gln1472Ter Multiple submitters
• p.Gln2028Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Gln2190Ter Multiple submitters autosomal recessive primary microcephaly
• p.Gln2307Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Gln2369Ter Multiple submitters
• p.Gln2620fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Gln2673Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Gln2756Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Gln2904fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Gln3060Ter Multiple submitters Inborn genetic diseases
• p.Gln3321Ter Multiple submitters Inborn genetic diseases
• p.Gln380Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Gln955Ter Multiple submitters fetal akinesia deformation sequence 1
• p.Glu1266Ter Multiple submitters autosomal recessive primary microcephaly
• p.Glu1455Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Glu2731fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Glu385fs Multiple submitters developmental and epileptic encephalopathy 116
• p.Ile1894fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ile2113fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ile213fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ile2445fs Multiple submitters developmental and epileptic encephalopathy 116
• p.Ile3352fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Lys1528fs Multiple submitters Inborn genetic diseases
• p.Lys2595fs Multiple submitters Inborn genetic diseases
• p.Lys2712fs Multiple submitters Inborn genetic diseases
• p.Lys576fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Lys600fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Lys633fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Phe1835fs Multiple submitters autosomal recessive primary microcephaly
• p.Ser557fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ser566Ter Multiple submitters autosomal recessive primary microcephaly
• p.Trp1326Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Trp1474Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Trp2968Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Trp3220Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Trp989Ter Multiple submitters microcephaly 1, primary, autosomal recessive
• p.Tyr2527_Arg2529delinsTer Multiple submitters Inborn genetic diseases
• p.Val1321fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Val531fs Multiple submitters congenital nervous system disorder
• c.2026+2C>G Single submitter ASPM-related disorder
• c.2760+1G>A Single submitter microcephaly 5, primary, autosomal recessive
• c.297+1G>C Single submitter microcephaly 5, primary, autosomal recessive
• c.3390+3_3390+6del Single submitter microcephaly 5, primary, autosomal recessive
• c.8987+1G>A Single submitter
• c.8988-1G>C Single submitter Inborn genetic diseases
• p.Ala2433fs Single submitter
• p.Ala2556fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Ala2714fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Ala2824fs Single submitter
• p.Ala28fs Single submitter
• p.Ala3088fs Single submitter
• p.Ala862fs Single submitter
• p.Arg1019Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Arg1327Ter Single submitter
• p.Arg1722Ter Single submitter
• p.Arg1964fs Single submitter
• p.Arg2281fs Single submitter Inborn genetic diseases
• p.Arg2470Ter Single submitter
• p.Arg2515Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Arg2682fs Single submitter
• p.Arg2732fs Single submitter autosomal recessive primary microcephaly
• p.Arg2743Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Arg2755fs Single submitter
• p.Arg3103fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Arg3107Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Arg587fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Arg601fs Single submitter
• p.Arg904fs Single submitter
• p.Arg980fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Asn1062fs Single submitter
• p.Asn1533fs Single submitter autosomal recessive primary microcephaly
• p.Asn176fs Single submitter
• p.Asn2237_Lys2238insTer Single submitter
• p.Asn2313fs Single submitter
• p.Asn2734fs Single submitter microcephaly 1, primary, autosomal recessive
• p.Asn400fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Asn468fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Asn534fs Single submitter
• p.Asp3397fs Single submitter
• p.Cys231fs Single submitter
• p.Cys974Ter Single submitter
• p.Gln1355Ter Single submitter developmental and epileptic encephalopathy 116
• p.Gln1461Ter Single submitter
• p.Gln1536fs Single submitter
• p.Gln1823Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Gln1955fs Single submitter microcephaly 1, primary, autosomal recessive
• p.Gln2013Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Gln2051fs Single submitter Inborn genetic diseases
• p.Gln2538Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Gln2609Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Gln2667Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Gln2867fs Single submitter
• p.Gln2902Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Gln3292Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Gln535fs Single submitter
• p.Glu1674fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Glu2228fs Single submitter
• p.Glu230fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Glu2333Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Glu2731Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Glu452Ter Single submitter
• p.Glu456Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Glu511fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Glu539fs Single submitter
• p.Glu608fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Glu924Ter Single submitter
• p.Gly26fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Gly526fs Single submitter
• p.His2015_Leu2016insTer Single submitter congenital nervous system disorder
• p.His2901fs Single submitter microcephaly 5, primary, autosomal recessive
• p.His481fs Single submitter
• p.Ile1161fs Single submitter autosomal recessive primary microcephaly
• p.Ile1470fs Single submitter
• p.Ile2231fs Single submitter
• p.Ile2582fs Single submitter
• p.Ile2583fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Ile740fs Single submitter
• p.Ile861fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Ile906fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Leu1023Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Leu1063Ter Single submitter microcephaly 1, primary, autosomal recessive
• p.Leu1144fs Single submitter
• p.Leu1701fs Single submitter
• p.Leu1963fs Single submitter
• p.Leu198Ter Single submitter
• p.Leu2016fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Leu2350Ter Single submitter
• p.Leu24fs Single submitter
• p.Leu2866fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Leu2907Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Leu3035Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Leu3214Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Leu391Ter Single submitter
• p.Leu41fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Leu985fs Single submitter
• p.Leu98fs Single submitter Inborn genetic diseases
• p.Lys1077Ter Single submitter
• p.Lys145fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Lys1624fs Single submitter
• p.Lys2062fs Single submitter
• p.Lys2555fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Lys2592fs Single submitter
• p.Lys268fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Lys2837fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Lys3222Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Lys3248fs Single submitter
• p.Lys3409fs Single submitter
• p.Lys412fs Single submitter
• p.Lys626fs Single submitter
• p.Lys637fs Single submitter
• p.Lys698fs Single submitter
• p.Met1192fs Single submitter Inborn genetic diseases
• p.Met2793fs Single submitter
• p.Phe773fs Single submitter
• p.Pro20fs Single submitter Inborn genetic diseases
• p.Pro423fs Single submitter
• p.Pro470fs Single submitter
• p.Ser1176Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Ser1237Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Ser240fs Single submitter
• p.Ser2466Ter Single submitter
• p.Ser3186Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Ser40fs Single submitter Inborn genetic diseases
• p.Ser494fs Single submitter autosomal recessive primary microcephaly
• p.Ser565fs Single submitter congenital nervous system disorder
• p.Ser92fs Single submitter
• p.Thr1688= Single submitter
• p.Thr720fs Single submitter
• p.Trp1277Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Trp1395Ter Single submitter
• p.Trp1456Ter Single submitter
• p.Trp1934Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Trp2943Ter Single submitter
• p.Trp2964Ter Single submitter
• p.Trp3150Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Trp3215Ter Single submitter
• p.Trp803Ter Single submitter
• p.Tyr1109Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Tyr1372_Tyr1373insTer Single submitter developmental and epileptic encephalopathy 116
• p.Tyr1373fs Single submitter Inborn genetic diseases
• p.Tyr1484fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Tyr1521fs Single submitter
• p.Tyr1602Ter Single submitter
• p.Tyr2063Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Tyr2208fs Single submitter
• p.Tyr2208Ter Single submitter
• p.Tyr2236Ter Single submitter
• p.Tyr2587Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Tyr2708Ter Single submitter
• p.Tyr2798fs Single submitter
• p.Tyr2882Ter Single submitter
• p.Tyr2965fs Single submitter
• p.Tyr3164Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Tyr3250fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Tyr3263Ter Single submitter
• p.Tyr462_Ser463delinsTer Single submitter
• p.Tyr462Ter Single submitter Inborn genetic diseases
• p.Tyr544fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Tyr832Ter Single submitter
• p.Val1565fs Single submitter
• p.Val1847fs Single submitter
• p.Val2036fs Single submitter autosomal recessive primary microcephaly
• p.Val2103fs Single submitter
• p.Val2172fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Val2219fs Single submitter
• p.Val2437fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Val2754fs Single submitter
• c.3741+1G>C No assertion criteria microcephaly 5, primary, autosomal recessive
• p.Arg117Ter No assertion criteria microcephaly 5, primary, autosomal recessive
• p.Arg3281Ter No assertion criteria microcephaly 5, primary, autosomal recessive
• p.Asn533fs No assertion criteria ASPM-related disorder
• p.Gln421fs No assertion criteria microcephaly 5, primary, autosomal recessive
• p.Leu2276del No assertion criteria microcephaly 5, primary, autosomal recessive
• p.Lys2900fs No assertion criteria microcephaly 5, primary, autosomal recessive
• p.Lys3053fs No assertion criteria microcephaly 5, primary, autosomal recessive
• p.Phe645fs No assertion criteria microcephaly 5, primary, autosomal recessive
• p.Trp695Ter No assertion criteria microcephaly 5, primary, autosomal recessive
• p.Tyr1325Ter No assertion criteria microcephaly 5, primary, autosomal recessive

Pathogenic/Likely pathogenic 29

• c.2419+2T>C Multiple submitters autosomal recessive primary microcephaly
• c.2488-1G>C Multiple submitters microcephaly 5, primary, autosomal recessive
• c.3082+1G>C Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg1576fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg2184fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg2442Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg3096Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg3152Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg3233Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg3354Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Asn324fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Asp1285fs Multiple submitters Inborn genetic diseases
• p.Gln193Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Gln2377fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Gln2836fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Leu1808fs Multiple submitters
• p.Leu1864fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Leu2285fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Leu2306fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Leu3109fs Multiple submitters Inborn genetic diseases
• p.Lys2213_Lys2214insTer Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ser2387fs Multiple submitters autosomal recessive primary microcephaly
• p.Ser577fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Thr2499fs Multiple submitters Inborn genetic diseases
• p.Tyr1569Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Tyr2658Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Tyr558Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Val1169fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Val2182fs Multiple submitters microcephaly 5, primary, autosomal recessive

Likely pathogenic 64

• c.2936+5G>A Multiple submitters microcephaly 5, primary, autosomal recessive
• c.9084+5G>A Multiple submitters microcephaly
• p.Asn1095fs Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Asn3136fs Multiple submitters
• p.Tyr1665Ter Multiple submitters autosomal recessive primary microcephaly
• c.10161+1_10161+2del Single submitter microcephaly 5, primary, autosomal recessive
• c.10162-2A>G Single submitter
• c.2420-2A>G Single submitter
• c.2629+1G>T Single submitter
• c.2629+4_2629+7del Single submitter
• c.3168+2T>C Single submitter microcephaly 5, primary, autosomal recessive
• c.3391-2A>G Single submitter
• c.3599-1G>A Single submitter microcephaly 5, primary, autosomal recessive
• c.3741+1G>A Single submitter microcephaly 5, primary, autosomal recessive
• c.3742-1G>C Single submitter microcephaly 5, primary, autosomal recessive
• c.4065+1G>A Single submitter
• c.9444+1G>T Single submitter microcephaly 5, primary, autosomal recessive
• p.Ala1804fs Single submitter
• p.Ala928fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Arg2271fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Arg2385fs Single submitter
• p.Arg2682Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Arg3252fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Arg3308Leu Single submitter microcephaly 5, primary, autosomal recessive
• p.Asn109fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Cys236Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Gln1274Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Gln1347Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Gln1574Ter Single submitter autosomal recessive primary microcephaly
• p.Gln1647fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Gln1736Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Gln2270Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Gln2310Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Gln3037fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Gln312Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Glu216Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Glu2525fs Single submitter microcephaly
• p.Glu2585Ter Single submitter
• p.Glu983Ter Single submitter
• p.Leu2268fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Leu707Ter Single submitter
• p.Lys1294fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Lys1505fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Lys2038_Arg2039insTer Single submitter microcephaly 5, primary, autosomal recessive
• p.Lys2593fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Lys3446fs Single submitter
• p.Lys994fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Met1Thr Single submitter microcephaly 5, primary, autosomal recessive
• p.Thr1044fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Thr178fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Thr496fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Tyr1712Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Tyr1844Ter Single submitter microcephaly 5, primary, autosomal recessive
• p.Tyr2004_Arg2005delinsTer Single submitter
• p.Val1689fs Single submitter
• p.Ala84fs No assertion criteria microcephaly 5, primary, autosomal recessive
• p.Arg500fs No assertion criteria microcephaly 5, primary, autosomal recessive
• p.Asp540fs No assertion criteria microcephaly 5, primary, autosomal recessive
• p.Ile2932fs No assertion criteria microcephaly 5, primary, autosomal recessive
• p.Ile3229fs No assertion criteria intellectual disability
• p.Ile851Phe No assertion criteria microcephaly 5, primary, autosomal recessive
• p.Lys3080Ter No assertion criteria microcephaly 5, primary, autosomal recessive
• p.Ser2789fs No assertion criteria microcephaly 5, primary, autosomal recessive
• p.Val269fs No assertion criteria microcephaly 5, primary, autosomal recessive

Conflicting classifications of pathogenicity 174

• c.10331+5G>A Single submitter microcephaly 5, primary, autosomal recessive
• c.1921+13T>G Single submitter microcephaly 5, primary, autosomal recessive
• c.1922-14C>G Single submitter microcephaly 5, primary, autosomal recessive
• c.2173+6C>T Single submitter microcephaly 5, primary, autosomal recessive
• c.2419+6A>T Single submitter microcephaly 5, primary, autosomal recessive
• c.2761-11T>C Single submitter microcephaly 5, primary, autosomal recessive
• c.2936+13A>G Single submitter microcephaly 5, primary, autosomal recessive
• c.3390+3A>G Single submitter Inborn genetic diseases
• c.3599-4A>G Single submitter microcephaly 5, primary, autosomal recessive
• c.3871-8T>C Single submitter microcephaly 5, primary, autosomal recessive
• c.441+10T>G Single submitter microcephaly 5, primary, autosomal recessive
• c.8821-9A>G Single submitter
• c.8987+39TG[2] Single submitter
• c.9085-3T>C Single submitter Inborn genetic diseases
• c.9294+2T>C Single submitter autosomal recessive primary microcephaly
• c.9830-8dup Single submitter
• c.-110C>T Single submitter microcephaly 5, primary, autosomal recessive
• c.*158T>C Single submitter microcephaly 5, primary, autosomal recessive
• p.Ala1258Thr Single submitter
• p.Ala1296Pro Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Ala1351= Single submitter microcephaly 5, primary, autosomal recessive
• p.Ala1767Pro Single submitter microcephaly 5, primary, autosomal recessive
• p.Ala194= Single submitter microcephaly 5, primary, autosomal recessive
• p.Ala2393= Single submitter microcephaly 5, primary, autosomal recessive
• p.Ala2540= Single submitter microcephaly 5, primary, autosomal recessive
• p.Ala2817Ser Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Ala2818Ser Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Ala3185Pro Single submitter microcephaly 5, primary, autosomal recessive
• p.Ala755Thr Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Arg1019Gln Single submitter Inborn genetic diseases ⚠
• p.Arg1268= Single submitter microcephaly 5, primary, autosomal recessive
• p.Arg1402= Single submitter microcephaly 5, primary, autosomal recessive
• p.Arg1578Gln Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Arg1713His Single submitter Inborn genetic diseases
• p.Arg2184Gln Single submitter Inborn genetic diseases ⚠
• p.Arg2184Trp Single submitter Inborn genetic diseases ⚠
• p.Arg2202Ser Single submitter Inborn genetic diseases ⚠
• p.Arg2281Ser Single submitter Inborn genetic diseases ⚠
• p.Arg2349= Single submitter microcephaly 5, primary, autosomal recessive
• p.Arg2372Gly Single submitter microcephaly 5, primary, autosomal recessive
• p.Arg2458Gly Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Arg2492Lys Single submitter microcephaly 5, primary, autosomal recessive
• p.Arg2518= Single submitter microcephaly 5, primary, autosomal recessive
• p.Arg2665Cys Single submitter Inborn genetic diseases ⚠
• p.Arg2690Trp Single submitter Inborn genetic diseases ⚠
• p.Arg2743Gln Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Arg2842Trp Single submitter microcephaly 5, primary, autosomal recessive
• p.Arg2853Gln Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Arg2919Ser Single submitter ⚠
• p.Arg2996Trp Single submitter
• p.Arg3051Gln Single submitter Inborn genetic diseases ⚠
• p.Arg3091His Single submitter Inborn genetic diseases ⚠
• p.Arg3304Gln Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Arg489= Single submitter microcephaly 5, primary, autosomal recessive
• p.Arg573Trp Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Arg597Gln Single submitter ⚠
• p.Arg627Cys Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Arg759Trp Single submitter Inborn genetic diseases
• p.Asn166Ser Single submitter Inborn genetic diseases ⚠
• p.Asn2044Ser Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Asn2687Asp Single submitter Inborn genetic diseases ⚠
• p.Asn282His Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Asp2042Gly Single submitter Inborn genetic diseases ⚠
• p.Asp381Tyr Single submitter Inborn genetic diseases ⚠
• p.Asp990Asn Single submitter Inborn genetic diseases ⚠
• p.Cys302Tyr Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Cys3226Gly Single submitter Inborn genetic diseases ⚠
• p.Cys45= Single submitter microcephaly 5, primary, autosomal recessive
• p.Gln1940Glu Single submitter Inborn genetic diseases ⚠
• p.Gln2234= Single submitter
• p.Gln2369Pro Single submitter Inborn genetic diseases
• p.Gln2523= Single submitter
• p.Gln2626= Single submitter microcephaly 5, primary, autosomal recessive
• p.Gln2795Glu Single submitter Inborn genetic diseases ⚠
• p.Gln3180= Single submitter microcephaly 5, primary, autosomal recessive
• p.Gln3180Pro Single submitter
• p.Gln3421Lys Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Gln395= Single submitter microcephaly 5, primary, autosomal recessive
• p.Gln701= Single submitter microcephaly 5, primary, autosomal recessive
• p.Glu216Lys Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Glu527Gln Single submitter Inborn genetic diseases ⚠
• p.Glu735= Single submitter
• p.Glu864= Single submitter microcephaly 5, primary, autosomal recessive
• p.Gly1837Asp Single submitter microcephaly 5, primary, autosomal recessive
• p.Gly2678= Single submitter microcephaly 5, primary, autosomal recessive
• p.Gly3092= Single submitter
• p.Gly3365= Single submitter microcephaly 5, primary, autosomal recessive
• p.Gly3366Arg Single submitter Inborn genetic diseases ⚠
• p.Gly58= Single submitter
• p.Gly7Arg Single submitter ⚠
• p.His1403= Single submitter
• p.His1949Arg Single submitter Inborn genetic diseases ⚠
• p.His2386Arg Single submitter Inborn genetic diseases ⚠
• p.His359Arg Single submitter Inborn genetic diseases ⚠
• p.Ile1011Val Single submitter Inborn genetic diseases ⚠
• p.Ile1083Val Single submitter Inborn genetic diseases ⚠
• p.Ile1375Val Single submitter Inborn genetic diseases ⚠
• p.Ile1426Val Single submitter Inborn genetic diseases ⚠
• p.Ile1514Val Single submitter Inborn genetic diseases ⚠
• p.Ile1826= Single submitter microcephaly 5, primary, autosomal recessive
• p.Ile1851Val Single submitter Inborn genetic diseases ⚠
• p.Ile2864Val Single submitter Inborn genetic diseases ⚠
• p.Ile2914Thr Single submitter Inborn genetic diseases ⚠
• p.Ile2977Val Single submitter Inborn genetic diseases ⚠
• p.Ile3014Thr Single submitter Inborn genetic diseases
• p.Ile3085Thr Single submitter Inborn genetic diseases ⚠
• p.Ile313Val Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Ile624Thr Single submitter Inborn genetic diseases ⚠
• p.Leu1063= Single submitter microcephaly 5, primary, autosomal recessive
• p.Leu1481= Single submitter microcephaly 5, primary, autosomal recessive
• p.Leu2016= Single submitter microcephaly 5, primary, autosomal recessive
• p.Leu2239= Single submitter microcephaly 5, primary, autosomal recessive
• p.Leu2283= Single submitter
• p.Leu2841= Single submitter microcephaly 5, primary, autosomal recessive
• p.Leu3255Phe Single submitter Inborn genetic diseases ⚠
• p.Leu732Ser Single submitter Inborn genetic diseases ⚠
• p.Leu972Val Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Lys1077Gln Single submitter Inborn genetic diseases ⚠
• p.Lys1345= Single submitter
• p.Lys1479Arg Single submitter Inborn genetic diseases ⚠
• p.Lys1496= Single submitter microcephaly 5, primary, autosomal recessive
• p.Lys1989= Single submitter microcephaly 5, primary, autosomal recessive
• p.Lys2358= Single submitter microcephaly 5, primary, autosomal recessive
• p.Lys2476Asn Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Lys993Glu Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Met1651Val Single submitter Inborn genetic diseases ⚠
• p.Met1983Leu Single submitter Inborn genetic diseases ⚠
• p.Met2352Val Single submitter Inborn genetic diseases ⚠
• p.Met2752Arg Single submitter Inborn genetic diseases ⚠
• p.Phe2345Leu Single submitter
• p.Phe2735Val Single submitter microcephaly 5, primary, autosomal recessive
• p.Pro27= Single submitter microcephaly 5, primary, autosomal recessive
• p.Pro681= Single submitter microcephaly 5, primary, autosomal recessive
• p.Pro998= Single submitter
• p.Ser1110Gly Single submitter Inborn genetic diseases ⚠
• p.Ser1189Phe Single submitter Inborn genetic diseases ⚠
• p.Ser1687= Single submitter microcephaly 5, primary, autosomal recessive
• p.Ser1833Thr Single submitter Inborn genetic diseases ⚠
• p.Ser2320= Single submitter microcephaly 5, primary, autosomal recessive
• p.Ser2557Cys Single submitter Inborn genetic diseases ⚠
• p.Ser3082= Single submitter microcephaly 5, primary, autosomal recessive
• p.Ser311Arg Single submitter Inborn genetic diseases ⚠
• p.Ser311Thr Single submitter ⚠
• p.Ser3219= Single submitter
• p.Ser3297Tyr Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Ser435Leu Single submitter Inborn genetic diseases ⚠
• p.Ser463Asn Single submitter Inborn genetic diseases ⚠
• p.Ser566Leu Single submitter Inborn genetic diseases ⚠
• p.Ser665= Single submitter
• p.Ser837Pro Single submitter Inborn genetic diseases ⚠
• p.Thr1242= Single submitter microcephaly 5, primary, autosomal recessive
• p.Thr1399fs Single submitter microcephaly 5, primary, autosomal recessive
• p.Thr163= Single submitter microcephaly 5, primary, autosomal recessive
• p.Thr1867Lys Single submitter Inborn genetic diseases ⚠
• p.Thr2434Ala Single submitter Inborn genetic diseases ⚠
• p.Thr2872Met Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Thr336Lys Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Thr3472= Single submitter microcephaly 5, primary, autosomal recessive
• p.Tyr1373del Single submitter Inborn genetic diseases
• p.Tyr1742His Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Tyr1980= Single submitter
• p.Tyr2153His Single submitter ⚠
• p.Tyr2354= Single submitter microcephaly 5, primary, autosomal recessive
• p.Tyr2517= Single submitter microcephaly 5, primary, autosomal recessive
• p.Tyr2989Cys Single submitter microcephaly 5, primary, autosomal recessive
• p.Val1659Phe Single submitter microcephaly 5, primary, autosomal recessive
• p.Val1755Ala Single submitter Inborn genetic diseases ⚠
• p.Val2036Gly Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Val2172Ile Single submitter Inborn genetic diseases ⚠
• p.Val2770Gly Single submitter ⚠
• p.Val3278Ala Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Val614Leu Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Val844= Single submitter microcephaly 5, primary, autosomal recessive
• p.Val965Ile Single submitter Inborn genetic diseases ⚠

Benign 70

• c.10331+8A>G Multiple submitters microcephaly 5, primary, autosomal recessive
• c.10332-20dup Multiple submitters
• c.1922-41G>A Multiple submitters microcephaly 5, primary, autosomal recessive
• c.2174-114T>G Multiple submitters
• c.2174-20T>C Multiple submitters microcephaly 5, primary, autosomal recessive
• c.2420-139A>G Multiple submitters
• c.2487+112G>T Multiple submitters
• c.3391-14G>T Multiple submitters microcephaly 5, primary, autosomal recessive
• c.3391-83A>G Multiple submitters
• c.8988-42G>A Multiple submitters
• c.9636+102C>T Multiple submitters
• c.9636+52T>C Multiple submitters microcephaly 5, primary, autosomal recessive
• c.9636+88T>C Multiple submitters
• c.*81C>T Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ala1860Val Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ala769= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg1046= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg1695Cys Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg430Gly Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Gln1987= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Gln2620His Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ile1304= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ile659= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Leu2522= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Leu2647Ile Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Leu3132Arg Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Lys1483= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ser1090Phe Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ser1193= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ser283= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ser935= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Thr1688Ile Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Tyr2494His Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Val2535= Multiple submitters microcephaly 5, primary, autosomal recessive
• c.10161+144A>T Single submitter
• c.10331+151A>G Single submitter
• c.2026+15_2026+20del Single submitter
• c.2026+204G>A Single submitter
• c.2173+251C>T Single submitter
• c.2173+76del Single submitter
• c.2174-201G>A Single submitter
• c.2419+204C>T Single submitter
• c.2419+6_2419+7insCTT Single submitter
• c.2488-299T>C Single submitter
• c.2760+174C>G Single submitter
• c.2761-100_2761-97del Single submitter
• c.2936+132_2936+133dup Single submitter
• c.2936+132dup Single submitter
• c.297+274AT[10] Single submitter
• c.297+274AT[7] Single submitter
• c.297+274AT[8] Single submitter
• c.297+274AT[9] Single submitter
• c.3168+168A>G Single submitter
• c.3390+142T>A Single submitter
• c.3391-18del Single submitter
• c.4065+250G>A Single submitter
• c.8987+230_8987+231insTAC Single submitter
• c.8987+302T>C Single submitter
• c.9295-10dup Single submitter
• c.9444+254T>A Single submitter
• c.9445-205CA[8] Single submitter
• c.9636+116G>A Single submitter
• c.9830-18G>T Single submitter
• c.9830-28GT[7] Single submitter
• c.9830-8del Single submitter
• p.Ala1877Ser Single submitter
• p.Arg1965= Single submitter
• p.Asn2526Asp Single submitter
• p.Asp1238= Single submitter
• p.Glu202= Single submitter

Benign/Likely benign 43

• c.10162-7T>A Multiple submitters microcephaly 5, primary, autosomal recessive
• c.10331+18G>A Multiple submitters microcephaly 5, primary, autosomal recessive
• c.2419+12G>A Multiple submitters microcephaly 5, primary, autosomal recessive
• c.3741+3A>G Multiple submitters microcephaly 5, primary, autosomal recessive
• c.3742-10T>G Multiple submitters microcephaly 5, primary, autosomal recessive
• c.3742-3dup Multiple submitters microcephaly 5, primary, autosomal recessive
• c.441+14C>T Multiple submitters microcephaly 5, primary, autosomal recessive
• c.8820+7C>G Multiple submitters microcephaly 5, primary, autosomal recessive
• c.9444+8T>G Multiple submitters microcephaly 5, primary, autosomal recessive
• c.-9G>T Multiple submitters microcephaly 5, primary, autosomal recessive
• c.*60C>T Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ala1877Thr Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ala194Asp Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ala663Ser Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ala75Thr Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ala917= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg1264His Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg1405Cys Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Arg1729Trp Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Asn484Ser Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Asp578Asn Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Cys1941Arg Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Gln1736Glu Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Gln1914Arg Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Glu215Ala Multiple submitters microcephaly 5, primary, autosomal recessive
• p.His2130Tyr Multiple submitters
• p.His3258Arg Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ile2341= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ile2558= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ile740Leu Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Leu1320= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Leu2259= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Leu2451= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Leu2522Ter Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Lys1862Glu Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Lys2639= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Thr3332= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Tyr2722= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Tyr3164= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Tyr462Cys Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Tyr756Cys Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Val2243Leu Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Val2596Ala Multiple submitters microcephaly 5, primary, autosomal recessive

Likely benign 482

Showing the top 300 by review status; the full set is in the sitemap.

• c.10162-73G>T Multiple submitters
• c.2027-13del Multiple submitters microcephaly 5, primary, autosomal recessive
• c.2420-20G>A Multiple submitters microcephaly 5, primary, autosomal recessive
• c.2487+125C>A Multiple submitters
• c.2488-99A>G Multiple submitters
• c.2630-61T>G Multiple submitters
• c.2760+138G>C Multiple submitters
• c.3083-11T>C Multiple submitters microcephaly 5, primary, autosomal recessive
• c.3083-37C>G Multiple submitters
• c.3870+25A>G Multiple submitters
• c.4066-32T>C Multiple submitters microcephaly 5, primary, autosomal recessive
• c.4066-4C>T Multiple submitters
• c.8821-47A>G Multiple submitters
• c.9085-101T>A Multiple submitters
• c.9085-83A>G Multiple submitters
• c.9444+111G>A Multiple submitters
• c.9444+61A>G Multiple submitters
• c.9637-38G>A Multiple submitters
• c.-114C>A Multiple submitters microcephaly 5, primary, autosomal recessive
• c.-177G>A Multiple submitters microcephaly 5, primary, autosomal recessive
• c.-28G>A Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ala1052= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ala2484= Multiple submitters
• p.Ala3002= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ala59= Multiple submitters
• p.Ala663= Multiple submitters
• p.Arg3041= Multiple submitters Inborn genetic diseases
• p.Gln1173= Multiple submitters Inborn genetic diseases
• p.Glu3157= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Glu3242= Multiple submitters
• p.Glu776Asp Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ile3209Thr Multiple submitters Inborn genetic diseases
• p.Leu150= Multiple submitters
• p.Leu87= Multiple submitters
• p.Lys103= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Lys2545= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Lys2729= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Lys2759= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ser577= Multiple submitters
• p.Thr1172= Multiple submitters
• p.Thr62= Multiple submitters
• p.Tyr1742= Multiple submitters
• p.Tyr2567= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Tyr2587= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Tyr2852Cys Multiple submitters Inborn genetic diseases
• p.Val1638= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Val1847= Multiple submitters
• c.10161+13_10161+16del Single submitter
• c.10161+15G>C Single submitter
• c.10331+10T>G Single submitter
• c.10332-13T>C Single submitter
• c.10332-40_10332-38del Single submitter
• c.10332-6del Single submitter
• c.1921+13T>A Single submitter
• c.1921+257_1921+259del Single submitter
• c.1921+300G>A Single submitter
• c.1922-5T>C Single submitter
• c.1922-9T>C Single submitter
• c.2026+313C>T Single submitter
• c.2027-17C>A Single submitter
• c.2027-17C>T Single submitter
• c.2027-324T>C Single submitter
• c.2027-516G>T Single submitter microcephaly 5, primary, autosomal recessive
• c.2173+12_2173+16del Single submitter
• c.2173+120A>G Single submitter
• c.2173+13T>C Single submitter
• c.2173+269T>G Single submitter
• c.2173+7G>A Single submitter
• c.2174-12G>C Single submitter
• c.2174-16T>C Single submitter
• c.2174-303_2174-302del Single submitter
• c.2174-4C>G Single submitter
• c.2419+13C>T Single submitter
• c.2419+18A>C Single submitter
• c.2419+289C>T Single submitter
• c.2419+306G>A Single submitter
• c.2419+313A>G Single submitter
• c.2419+6delinsTCTT Single submitter
• c.2420-11A>T Single submitter
• c.2420-12C>T Single submitter
• c.2420-14del Single submitter
• c.2487+15C>T Single submitter
• c.2487+18del Single submitter
• c.2487+294A>G Single submitter
• c.2488-12A>C Single submitter
• c.2488-131A>C Single submitter
• c.2488-17C>T Single submitter
• c.2629+11C>T Single submitter
• c.2629+29C>T Single submitter
• c.2630-14G>A Single submitter
• c.2630-20T>C Single submitter
• c.2630-6T>C Single submitter
• c.2760+12A>G Single submitter
• c.2761-10T>C Single submitter
• c.2761-4A>G Single submitter
• c.2936+11_2936+14del Single submitter
• c.2936+17G>T Single submitter
• c.2937-171T>C Single submitter
• c.2937-7C>T Single submitter
• c.297+10A>G Single submitter
• c.297+15dup Single submitter
• c.297+265_297+266del Single submitter
• c.297+7C>T Single submitter
• c.3083-9C>G Single submitter
• c.3168+11T>G Single submitter
• c.3168+168AT[8] Single submitter
• c.3168+18C>T Single submitter
• c.3169-12T>C Single submitter
• c.3390+162A>G Single submitter
• c.3391-298A>G Single submitter
• c.3599-12C>T Single submitter
• c.3599-20C>T Single submitter
• c.3741+10A>G Single submitter
• c.3741+12A>G Single submitter
• c.3741+19T>C Single submitter
• c.3742-12_3742-7del Single submitter
• c.3742-13G>C Single submitter
• c.3742-15G>A Single submitter
• c.3742-15G>C Single submitter
• c.3870+10G>A Single submitter
• c.3870+294G>A Single submitter
• c.3871-172G>A Single submitter
• c.3871-251A>G Single submitter
• c.4065+10C>T Single submitter
• c.4065+73A>G Single submitter
• c.4066-10C>A Single submitter
• c.4066-10C>T Single submitter
• c.4066-18C>T Single submitter
• c.4066-222A>T Single submitter
• c.442-26T>C Single submitter
• c.442-4G>T Single submitter
• c.442-58G>A Single submitter
• c.8820+17_8820+21del Single submitter
• c.8820+18T>G Single submitter
• c.8820+20A>G Single submitter
• c.8821-1154C>T Single submitter
• c.8821-11G>A Single submitter
• c.8821-1298G>A Single submitter
• c.8821-12T>C Single submitter
• c.8821-287_8821-286del Single submitter
• c.8821-52dup Single submitter
• c.8987+11A>G Single submitter
• c.8987+19G>T Single submitter
• c.8988-7T>C Single submitter
• c.9084+131G>A Single submitter
• c.9084+14A>G Single submitter
• c.9085-16A>G Single submitter
• c.9085-19T>C Single submitter
• c.9294+16T>C Single submitter
• c.9294+18G>A Single submitter
• c.9294+18G>T Single submitter
• c.9295-5T>A Single submitter
• c.9444+18A>G Single submitter
• c.9444+6CTT[2] Single submitter
• c.9444+9C>A Single submitter
• c.9444+9C>T Single submitter
• c.9445-13_9445-12del Single submitter
• c.9445-249G>A Single submitter
• c.9636+16A>G Single submitter
• c.9636+19G>A Single submitter
• c.9636+68del Single submitter
• c.9637-19T>C Single submitter
• c.9637-20C>T Single submitter
• c.9829+10T>C Single submitter
• c.9830-13T>C Single submitter
• c.9830-16T>G Single submitter
• c.9830-17_9830-16insG Single submitter
• c.9830-17T>G Single submitter
• c.9830-18G>A Single submitter
• c.9830-20_9830-18del Single submitter
• c.9830-28GT[4] Single submitter
• c.9830-7C>T Single submitter
• c.9984+204_9984+206del Single submitter
• c.9985-9C>G Single submitter
• p.Ala1196= Single submitter
• p.Ala140= Single submitter
• p.Ala1618= Single submitter
• p.Ala1627= Single submitter
• p.Ala1642= Single submitter
• p.Ala1860= Single submitter
• p.Ala1900= Single submitter
• p.Ala1950= Single submitter
• p.Ala1997Val Single submitter
• p.Ala2143= Single submitter
• p.Ala2255= Single submitter
• p.Ala2265= Single submitter
• p.Ala2370= Single submitter
• p.Ala2556Val Single submitter intellectual disability
• p.Ala2579= Single submitter
• p.Ala2589= Single submitter
• p.Ala2610= Single submitter
• p.Ala2668= Single submitter
• p.Ala2809= Single submitter
• p.Ala2818= Single submitter
• p.Ala2863= Single submitter
• p.Ala2918= Single submitter
• p.Ala3115= Single submitter
• p.Ala3185= Single submitter
• p.Ala33= Single submitter
• p.Ala3335= Single submitter
• p.Ala358= Single submitter
• p.Ala589= Single submitter
• p.Ala661= Single submitter
• p.Ala686= Single submitter
• p.Ala964= Single submitter
• p.Ala969= Single submitter
• p.Arg1101= Single submitter
• p.Arg1259= Single submitter
• p.Arg148= Single submitter Inborn genetic diseases
• p.Arg168= Single submitter
• p.Arg1818= Single submitter
• p.Arg19= Single submitter
• p.Arg1918= Single submitter
• p.Arg2257= Single submitter
• p.Arg2271Ser Single submitter
• p.Arg2281= Single submitter
• p.Arg2294= Single submitter
• p.Arg2378= Single submitter
• p.Arg2383= Single submitter
• p.Arg2402= Single submitter
• p.Arg2439= Single submitter
• p.Arg2458= Single submitter
• p.Arg2755= Single submitter
• p.Arg2831= Single submitter
• p.Arg2854= Single submitter
• p.Arg3031Gln Single submitter Inborn genetic diseases
• p.Arg3051= Single submitter
• p.Arg3064= Single submitter
• p.Arg3193= Single submitter
• p.Arg3233= Single submitter
• p.Arg3308= Single submitter
• p.Arg3438= Single submitter
• p.Arg430Ser Single submitter Inborn genetic diseases
• p.Arg793= Single submitter
• p.Arg854= Single submitter
• p.Asn2014= Single submitter
• p.Asn2044His Single submitter Inborn genetic diseases
• p.Asn2526= Single submitter
• p.Asn2616= Single submitter
• p.Asn2734= Single submitter
• p.Asn287= Single submitter
• p.Asn293= Single submitter
• p.Asn3= Single submitter
• p.Asn3182= Single submitter
• p.Asn460= Single submitter
• p.Asn513= Single submitter
• p.Asn560= Single submitter
• p.Asn688= Single submitter
• p.Asn71= Single submitter
• p.Asp1102Asn Single submitter Inborn genetic diseases
• p.Asp1118Glu Single submitter
• p.Asp1140= Single submitter
• p.Asp1159= Single submitter
• p.Asp152= Single submitter
• p.Asp428= Single submitter
• p.Asp840= Single submitter
• p.Cys2043= Single submitter
• p.Cys2777Ser Single submitter
• p.Cys51= Single submitter
• p.Cys770= Single submitter
• p.Gln1014= Single submitter
• p.Gln1065= Single submitter
• p.Gln1300= Single submitter
• p.Gln1310= Single submitter
• p.Gln1378= Single submitter
• p.Gln1414= Single submitter
• p.Gln1428= Single submitter
• p.Gln1440= Single submitter
• p.Gln1720= Single submitter
• p.Gln1747= Single submitter
• p.Gln1823= Single submitter
• p.Gln1824= Single submitter
• p.Gln2147= Single submitter
• p.Gln2155Glu Single submitter Inborn genetic diseases
• p.Gln2488= Single submitter
• p.Gln2561= Single submitter
• p.Gln2584= Single submitter
• p.Gln2620Lys Single submitter
• p.Gln2772= Single submitter
• p.Gln2783= Single submitter
• p.Gln3189= Single submitter
• p.Glu1026= Single submitter
• p.Glu1068= Single submitter
• p.Glu1291= Single submitter
• p.Glu2585= Single submitter
• p.Glu2763= Single submitter
• p.Glu2796= Single submitter
• p.Glu3101= Single submitter
• p.Glu3271= Single submitter
• p.Glu3314= Single submitter
• p.Glu3458= Single submitter
• p.Glu539= Single submitter
• p.Gly1229= Single submitter
• p.Gly1356Arg Single submitter Inborn genetic diseases
• p.Gly2156= Single submitter
• p.Gly23= Single submitter
• p.Gly26= Single submitter
• p.Gly2791Ala Single submitter Inborn genetic diseases
• p.Gly9= Single submitter
• p.His1654= Single submitter

Uncertain significance 1015

Showing the top 300 by review status; the full set is in the sitemap.

• c.9985-72G>A Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ala1125Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala1319Ser Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Ala1386Val Multiple submitters ASPM-related disorder ⚠
• p.Ala1468Thr Multiple submitters Inborn genetic diseases
• p.Ala1950Val Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ala2046Thr Multiple submitters Inborn genetic diseases
• p.Ala2266Thr Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ala2817Asp Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ala2895Thr Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Ala3013Thr Multiple submitters Inborn genetic diseases
• p.Ala3056Asp Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Ala502Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ala661Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ala881Val Multiple submitters Inborn genetic diseases ⚠
• p.Ala921Ser Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Arg1002His Multiple submitters
• p.Arg1019Leu Multiple submitters Inborn genetic diseases ⚠
• p.Arg1041Thr Multiple submitters Inborn genetic diseases
• p.Arg1259Lys Multiple submitters Inborn genetic diseases
• p.Arg1288Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg1405His Multiple submitters Inborn genetic diseases ⚠
• p.Arg1405Pro Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Arg1437Cys Multiple submitters Inborn genetic diseases
• p.Arg1454Gly Multiple submitters Inborn genetic diseases ⚠
• p.Arg1482Gln Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Arg1482Trp Multiple submitters Inborn genetic diseases
• p.Arg1499Leu Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Arg1531Cys Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg1531His Multiple submitters Inborn genetic diseases ⚠
• p.Arg1599Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg1633Cys Multiple submitters Inborn genetic diseases ⚠
• p.Arg1768Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg1768Trp Multiple submitters Inborn genetic diseases
• p.Arg1818Cys Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg1948Cys Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Arg2032His Multiple submitters ⚠
• p.Arg2160His Multiple submitters Inborn genetic diseases ⚠
• p.Arg2271Lys Multiple submitters Inborn genetic diseases ⚠
• p.Arg2279Gly Multiple submitters Inborn genetic diseases ⚠
• p.Arg2515Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg2657del Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg2682Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg2750Thr Multiple submitters Inborn genetic diseases
• p.Arg2853Trp Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg2871Lys Multiple submitters Inborn genetic diseases
• p.Arg2927Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg3051Trp Multiple submitters Inborn genetic diseases
• p.Arg3096Gln Multiple submitters Inborn genetic diseases
• p.Arg3152Gln Multiple submitters Inborn genetic diseases
• p.Arg3193Cys Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg3193His Multiple submitters Inborn genetic diseases
• p.Arg3198Cys Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Arg3198His Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Arg3216Lys Multiple submitters Inborn genetic diseases
• p.Arg3308His Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg3354Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg3444= Multiple submitters
• p.Arg601Ile Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Arg694Cys Multiple submitters Inborn genetic diseases
• p.Arg759Gln Multiple submitters Inborn genetic diseases ⚠
• p.Arg771His Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Arg792Lys Multiple submitters Inborn genetic diseases ⚠
• p.Arg797Gly Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg809Cys Multiple submitters Inborn genetic diseases
• p.Arg931Gln Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Arg942Cys Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Asn201Asp Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Asn2092Ile Multiple submitters Inborn genetic diseases ⚠
• p.Asn209Ser Multiple submitters Inborn genetic diseases ⚠
• p.Asn2237Lys Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Asn2600Ser Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Asn688His Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Asn853His Multiple submitters Inborn genetic diseases ⚠
• p.Asp1198His Multiple submitters Inborn genetic diseases ⚠
• p.Asp2614Gly Multiple submitters Inborn genetic diseases ⚠
• p.Asp428Val Multiple submitters Inborn genetic diseases ⚠
• p.Asp477Tyr Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Asp68Gly Multiple submitters Inborn genetic diseases ⚠
• p.Cys3034Tyr Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Gln1014His Multiple submitters Inborn genetic diseases ⚠
• p.Gln1495His Multiple submitters Inborn genetic diseases ⚠
• p.Gln1824Arg Multiple submitters Inborn genetic diseases ⚠
• p.Gln1928His Multiple submitters Inborn genetic diseases
• p.Gln1966Arg Multiple submitters Inborn genetic diseases ⚠
• p.Gln1966Pro Multiple submitters Inborn genetic diseases
• p.Gln2307Lys Multiple submitters Inborn genetic diseases
• p.Gln2501Arg Multiple submitters Inborn genetic diseases ⚠
• p.Gln2511Pro Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Gln310Leu Multiple submitters Inborn genetic diseases ⚠
• p.Gln395Arg Multiple submitters Inborn genetic diseases ⚠
• p.Glu1246Gly Multiple submitters Inborn genetic diseases
• p.Glu1465Gly Multiple submitters Inborn genetic diseases
• p.Glu1480dup Multiple submitters Inborn genetic diseases
• p.Glu561Lys Multiple submitters Inborn genetic diseases ⚠
• p.Gly1104Asp Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Gly1228Asp Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Gly1645Arg Multiple submitters Inborn genetic diseases ⚠
• p.Gly204Ser Multiple submitters Inborn genetic diseases ⚠
• p.Gly2156Cys Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Gly2611Asp Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Gly2791Ser Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.His132Gln Multiple submitters microcephaly 5, primary, autosomal recessive
• p.His1596Arg Multiple submitters Inborn genetic diseases ⚠
• p.His251Arg Multiple submitters Inborn genetic diseases ⚠
• p.His3275Gln Multiple submitters Inborn genetic diseases ⚠
• p.His3408Tyr Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.His867Gln Multiple submitters
• p.Ile1470Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ile1542Val Multiple submitters Inborn genetic diseases ⚠
• p.Ile1612Phe Multiple submitters Inborn genetic diseases
• p.Ile1655Ser Multiple submitters Inborn genetic diseases ⚠
• p.Ile1662Ser Multiple submitters Inborn genetic diseases ⚠
• p.Ile1778Thr Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Ile1945Val Multiple submitters Inborn genetic diseases ⚠
• p.Ile1975Val Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Ile1977Leu Multiple submitters Inborn genetic diseases ⚠
• p.Ile1992_Lys1994del Multiple submitters Inborn genetic diseases
• p.Ile2040Lys Multiple submitters Inborn genetic diseases
• p.Ile2072Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ile213Met Multiple submitters Inborn genetic diseases ⚠
• p.Ile219Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ile2631del Multiple submitters Inborn genetic diseases
• p.Ile2670Thr Multiple submitters Inborn genetic diseases ⚠
• p.Ile3014Met Multiple submitters Inborn genetic diseases ⚠
• p.Ile3147Val Multiple submitters Inborn genetic diseases ⚠
• p.Ile3345Lys Multiple submitters Inborn genetic diseases
• p.Ile3427Val Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Ile3432Asn Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Ile365Met Multiple submitters Inborn genetic diseases ⚠
• p.Ile492Val Multiple submitters Inborn genetic diseases ⚠
• p.Ile644Lys Multiple submitters Inborn genetic diseases ⚠
• p.Ile789Val Multiple submitters Inborn genetic diseases ⚠
• p.Leu1061= Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Leu1394Ile Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Leu1449Ser Multiple submitters Inborn genetic diseases
• p.Leu1685Phe Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Leu1998Phe Multiple submitters Inborn genetic diseases ⚠
• p.Leu2195Phe Multiple submitters Inborn genetic diseases ⚠
• p.Leu2239Pro Multiple submitters Inborn genetic diseases
• p.Leu24Arg Multiple submitters Inborn genetic diseases ⚠
• p.Leu2576Phe Multiple submitters Inborn genetic diseases ⚠
• p.Leu2736Val Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Leu2847Val Multiple submitters Inborn genetic diseases ⚠
• p.Leu2952Ser Multiple submitters Inborn genetic diseases ⚠
• p.Leu3132Pro Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Leu3214Ser Multiple submitters Inborn genetic diseases
• p.Leu65Met Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Leu893Phe Multiple submitters Inborn genetic diseases
• p.Lys1342Glu Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Lys1519Arg Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Lys1995_Ala1996delinsThr Multiple submitters
• p.Lys2002Arg Multiple submitters Inborn genetic diseases ⚠
• p.Lys2058Glu Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Lys2476Glu Multiple submitters Inborn genetic diseases ⚠
• p.Lys2604Asn Multiple submitters Inborn genetic diseases ⚠
• p.Lys2765Thr Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Lys3018Glu Multiple submitters Inborn genetic diseases
• p.Lys3075Gln Multiple submitters Inborn genetic diseases ⚠
• p.Lys616del Multiple submitters Inborn genetic diseases
• p.Lys687Arg Multiple submitters Inborn genetic diseases ⚠
• p.Lys920Arg Multiple submitters Inborn genetic diseases
• p.Met1233Thr Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Met1383Thr Multiple submitters Inborn genetic diseases ⚠
• p.Met1430Leu Multiple submitters ⚠
• p.Met1439Ile Multiple submitters Inborn genetic diseases ⚠
• p.Met1572Lys Multiple submitters Inborn genetic diseases
• p.Met1623Val Multiple submitters Inborn genetic diseases ⚠
• p.Met1726Val Multiple submitters Inborn genetic diseases ⚠
• p.Met1748Ile Multiple submitters ⚠
• p.Met2334Ile Multiple submitters Inborn genetic diseases ⚠
• p.Met581Thr Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Phe1367Leu Multiple submitters Inborn genetic diseases
• p.Phe1616Ile Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Phe2127Leu Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Phe3160Leu Multiple submitters Inborn genetic diseases ⚠
• p.Phe89Tyr Multiple submitters Inborn genetic diseases ⚠
• p.Pro226Ser Multiple submitters Inborn genetic diseases ⚠
• p.Pro238Ser Multiple submitters Inborn genetic diseases ⚠
• p.Pro300Ala Multiple submitters Inborn genetic diseases ⚠
• p.Pro3311Ala Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Pro3311Ser Multiple submitters Inborn genetic diseases
• p.Pro487Leu Multiple submitters Inborn genetic diseases ⚠
• p.Pro550Arg Multiple submitters Inborn genetic diseases ⚠
• p.Pro550Thr Multiple submitters Inborn genetic diseases ⚠
• p.Pro609Ala Multiple submitters Inborn genetic diseases ⚠
• p.Pro623Thr Multiple submitters Inborn genetic diseases ⚠
• p.Pro681Leu Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Ser1078Cys Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Ser1379Pro Multiple submitters Inborn genetic diseases
• p.Ser2284Phe Multiple submitters Inborn genetic diseases ⚠
• p.Ser240Cys Multiple submitters Inborn genetic diseases ⚠
• p.Ser2935Asn Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Ser3428Arg Multiple submitters Inborn genetic diseases ⚠
• p.Ser580Arg Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Ser629Gly Multiple submitters Inborn genetic diseases ⚠
• p.Ser650Cys Multiple submitters Inborn genetic diseases ⚠
• p.Ser752Ala Multiple submitters ⚠
• p.Thr1030Ile Multiple submitters Inborn genetic diseases ⚠
• p.Thr1082Ala Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Thr1397Ile Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Thr1863Ala Multiple submitters Inborn genetic diseases ⚠
• p.Thr2020Ala Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Thr2412Asn Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Thr3227Pro Multiple submitters Inborn genetic diseases ⚠
• p.Thr3382Ile Multiple submitters Inborn genetic diseases ⚠
• p.Thr3383Ala Multiple submitters Inborn genetic diseases ⚠
• p.Thr563Lys Multiple submitters Inborn genetic diseases ⚠
• p.Thr617Ser Multiple submitters Inborn genetic diseases ⚠
• p.Thr831Ala Multiple submitters ⚠
• p.Trp1570Gly Multiple submitters Inborn genetic diseases ⚠
• p.Trp2964Cys Multiple submitters Inborn genetic diseases ⚠
• p.Tyr1486Cys Multiple submitters Inborn genetic diseases
• p.Tyr1507Cys Multiple submitters microcephaly 5, primary, autosomal recessive
• p.Tyr1784Cys Multiple submitters Inborn genetic diseases ⚠
• p.Tyr1858Asn Multiple submitters Inborn genetic diseases ⚠
• p.Tyr2722Cys Multiple submitters Inborn genetic diseases ⚠
• p.Tyr2882Cys Multiple submitters Inborn genetic diseases ⚠
• p.Tyr2946His Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Tyr3128Cys Multiple submitters Inborn genetic diseases
• p.Tyr3353His Multiple submitters Inborn genetic diseases
• p.Val1123Leu Multiple submitters Inborn genetic diseases ⚠
• p.Val1169Leu Multiple submitters Inborn genetic diseases ⚠
• p.Val1492Leu Multiple submitters Inborn genetic diseases ⚠
• p.Val175Ile Multiple submitters Inborn genetic diseases ⚠
• p.Val2182Gly Multiple submitters Inborn genetic diseases
• p.Val3084Ile Multiple submitters ASPM-related disorder ⚠
• p.Val3278Ile Multiple submitters Inborn genetic diseases ⚠
• p.Val3336Ile Multiple submitters Inborn genetic diseases ⚠
• p.Val3389Ile Multiple submitters microcephaly 5, primary, autosomal recessive ⚠
• p.Val38Ile Multiple submitters Inborn genetic diseases ⚠
• p.Val614Ala Multiple submitters Inborn genetic diseases ⚠
• c.10331+5G>T Single submitter
• c.1921+3G>A Single submitter
• c.2173+5A>T Single submitter microcephaly 5, primary, autosomal recessive
• c.2174-12G>A Single submitter microcephaly 5, primary, autosomal recessive
• c.2419+11T>C Single submitter microcephaly 5, primary, autosomal recessive
• c.2629+3A>G Single submitter microcephaly 5, primary, autosomal recessive
• c.2936+7A>G Single submitter
• c.3082+6A>T Single submitter
• c.3168+5_3168+7del Single submitter
• c.3169-2_3169-1insAA Single submitter
• c.3599-7A>C Single submitter microcephaly 5, primary, autosomal recessive
• c.3599-7A>G Single submitter microcephaly 5, primary, autosomal recessive
• c.3742-12G>C Single submitter microcephaly 5, primary, autosomal recessive
• c.4065+5A>C Single submitter Inborn genetic diseases
• c.441+4A>G Single submitter
• c.441+5T>G Single submitter microcephaly 5, primary, autosomal recessive
• c.8988-15A>G Single submitter
• c.9084+4G>A Single submitter
• c.9294+4_9294+7del Single submitter microcephaly 5, primary, autosomal recessive
• c.9636+4A>G Single submitter
• c.9637-10T>A Single submitter
• c.-189C>G Single submitter microcephaly 5, primary, autosomal recessive
• c.-214T>C Single submitter microcephaly 5, primary, autosomal recessive
• c.*145T>G Single submitter microcephaly 5, primary, autosomal recessive
• c.*61G>A Single submitter microcephaly 5, primary, autosomal recessive
• c.*78C>G Single submitter
• c.*82G>A Single submitter microcephaly 5, primary, autosomal recessive
• p.Ala1122Thr Single submitter Inborn genetic diseases
• p.Ala1160= Single submitter microcephaly 5, primary, autosomal recessive
• p.Ala1258= Single submitter
• p.Ala1296Thr Single submitter Inborn genetic diseases
• p.Ala1296Val Single submitter Inborn genetic diseases ⚠
• p.Ala1302Ser Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Ala1350Thr Single submitter ⚠
• p.Ala1386Ser Single submitter ⚠
• p.Ala1406Phe Single submitter
• p.Ala1406Thr Single submitter ⚠
• p.Ala1503Thr Single submitter microcephaly 5, primary, autosomal recessive
• p.Ala1546Thr Single submitter Inborn genetic diseases ⚠
• p.Ala1553Thr Single submitter Inborn genetic diseases
• p.Ala1618Thr Single submitter Inborn genetic diseases ⚠
• p.Ala1681Thr Single submitter
• p.Ala1737Glu Single submitter
• p.Ala1737Thr Single submitter ⚠
• p.Ala1754Thr Single submitter
• p.Ala1787Glu Single submitter Inborn genetic diseases
• p.Ala1790Pro Single submitter Inborn genetic diseases
• p.Ala1790Thr Single submitter ⚠
• p.Ala1827Thr Single submitter Inborn genetic diseases
• p.Ala1860Ser Single submitter Inborn genetic diseases ⚠
• p.Ala1876Thr Single submitter microcephaly 5, primary, autosomal recessive ⚠
• p.Ala1876Val Single submitter ⚠
• p.Ala1900Asp Single submitter Inborn genetic diseases ⚠
• p.Ala1901Thr Single submitter
• p.Ala1907Val Single submitter Inborn genetic diseases ⚠
• p.Ala1913Thr Single submitter
• p.Ala1923Thr Single submitter Inborn genetic diseases
• p.Ala1933Thr Single submitter
• p.Ala2022Thr Single submitter Inborn genetic diseases ⚠
• p.Ala2030Thr Single submitter Inborn genetic diseases
• p.Ala2120= Single submitter
• p.Ala2125Asp Single submitter Inborn genetic diseases
• p.Ala2192Val Single submitter
• p.Ala2248Ser Single submitter ⚠
• p.Ala2266Val Single submitter
• p.Ala2289Ser Single submitter Inborn genetic diseases ⚠
• p.Ala22Pro Single submitter Inborn genetic diseases ⚠
• p.Ala2337Val Single submitter Inborn genetic diseases