GRIN1 — 1245 ClinVar variants

Pathogenic 48

• p.Arg659Trp Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Met641Leu Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Pro805fs Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Pro805Leu Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ala600fs Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ala645Ser Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ala652Val Single submitter
• p.Ala653Gly Single submitter Inborn genetic diseases
• p.Arg448fs Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Asn650Ile Single submitter
• p.Asn650Lys Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Asp677fs Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Asp789Asn Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gln177Ter Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gln357Ter Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gln405Leu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gln40Ter Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gln556His Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gln559Arg Single submitter
• p.Glu737Lys Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gly618Ser Single submitter
• p.Gly618Val Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gly815Arg Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ile619_Gly620dup Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu214fs Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu463fs Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu579fs Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Lys360Ter Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Met555Ile Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Met641Ile Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Met641Lys Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Met813Thr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Phe817Leu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Pro319fs Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ser443fs Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ser553Leu Single submitter ⚠
• p.Thr807Ser Single submitter ⚠
• p.Trp611Leu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Tyr245fs Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Tyr647Cys Single submitter
• p.Val635Gly Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
• p.Val644Met Single submitter
• c.394-1G>C No assertion criteria developmental and epileptic encephalopathy 101
• p.Asp552Glu No assertion criteria neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gln556Ter No assertion criteria developmental and epileptic encephalopathy 101
• p.Glu662Lys No assertion criteria neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ile835Thr No assertion criteria self-limited epilepsy with centrotemporal spikes ⚠
• p.Phe654Cys No assertion criteria neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

Pathogenic/Likely pathogenic 15

• p.Arg659Gln Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Arg794Gln Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg844Cys Multiple submitters intellectual disability
• p.Arg844Leu Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Asp732Glu Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gly620Arg Multiple submitters Inborn genetic diseases
• p.Gly638Ala Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gly827Arg Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ile643Val Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ile90fs Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Met641Val Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Met818Leu Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Pro557Arg Multiple submitters GRIN1-related disorder
• p.Ser549Arg Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ser688Tyr Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠

Likely pathogenic 64

• p.Arg794Trp Multiple submitters GRIN1-related disorder
• p.Asp227His Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
• p.Gly618Arg Multiple submitters Inborn genetic diseases
• p.Gly633Val Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Pro557Leu Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1113+1G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1113+2T>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1198-2del Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1340-1del Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1467+2T>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1633_1635delGAG Single submitter Inborn genetic diseases
• c.2013+2T>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2444-2_2448del Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.969-1G>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ala640Gly Single submitter GRIN1-related disorder
• p.Ala640Pro Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ala645Pro Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ala806Glu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ala814Asp Single submitter
• p.Arg582Ser Single submitter intellectual disability
• p.Arg794Gly Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg794Pro Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Asn521del Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Asn616His Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Asn616Ser Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Asn674Ile Single submitter ⚠
• p.Cys744Tyr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gln536Arg Single submitter
• p.Gln556Arg Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Glu172Lys Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Glu621Lys Single submitter GRIN1-related disorder
• p.Ile619Met Single submitter ⚠
• p.Ile642Leu Single submitter
• p.Ile642Phe Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ile642Thr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu699Pro Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Lys483Gln Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Lys531Arg Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Lys534Gln Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Met555Thr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Met641Thr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Met818Arg Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Phe639Cys Single submitter GRIN1-related disorder
• p.Pro532His Single submitter
• p.Pro624Leu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Pro670Thr Single submitter
• p.Ser560dup Single submitter GRIN1-related disorder
• p.Ser617Phe Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ser646Tyr Single submitter
• p.Ser688Pro Single submitter ⚠
• p.Ser800Ter Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ter939Gly Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Thr110Ile Single submitter
• p.Thr648Ile Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Tyr647His Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Val194fs Single submitter GRIN1-related disorder
• p.Val635Ala Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Val644Ala Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Val656Met Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Val735Glu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Val793Phe Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Val816Leu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Val816Phe Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2171+1G>A No assertion criteria neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

Conflicting classifications of pathogenicity 67

• c.1198-6C>T Single submitter Inborn genetic diseases
• c.1339+7GCGCGGGGCAGGGCGCGGG[3] Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2014-5T>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2444-14G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2444-2A>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2589+6G>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.570+18G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.794-11T>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.794-9C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.968+10dup Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ala234Thr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ala331Glu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ala331Val Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ala349Ser Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive ⚠
• p.Ala637Val Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive ⚠
• p.Ala806Val Single submitter GRIN1-related disorder ⚠
• p.Arg115His Single submitter Inborn genetic diseases ⚠
• p.Arg156His Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg174Gln Single submitter Inborn genetic diseases ⚠
• p.Arg359His Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg390Gln Single submitter Inborn genetic diseases ⚠
• p.Arg390Gly Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg523= Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Arg52Gly Single submitter Inborn genetic diseases ⚠
• p.Arg548Gln Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg5His Single submitter Inborn genetic diseases ⚠
• p.Arg659Gly Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg794Leu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asn350Ser Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asp303Asn Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asp658Glu Single submitter ⚠
• p.Cys79= Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Cys79Ter Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Glu834Gln Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gly256= Single submitter Inborn genetic diseases
• p.Gly268Arg Single submitter Inborn genetic diseases ⚠
• p.Gly365= Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gly815Trp Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.His293Gln Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.His371= Single submitter Inborn genetic diseases
• p.Ile680fs Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu808Val Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Lys495Asn Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Lys51Arg Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Pro106fs Single submitter GRIN1-related disorder
• p.Pro319= Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
• p.Pro444Leu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Pro447His Single submitter Inborn genetic diseases ⚠
• p.Pro660Leu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ser593Ile Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ser617Cys Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ser85= Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ser897Phe Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Thr123Asn Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Thr205Met Single submitter Inborn genetic diseases ⚠
• p.Thr335= Single submitter Inborn genetic diseases
• p.Thr370Ala Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Thr419Ala Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Thr807Ile Single submitter Inborn genetic diseases ⚠
• p.Trp563Gly Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Tyr367His Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Val118Met Single submitter GRIN1-related disorder ⚠
• p.Val141Met Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Val150Met Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Val204Met Single submitter Inborn genetic diseases ⚠
• p.Val338Met Single submitter Inborn genetic diseases ⚠
• p.Val479= Single submitter

Benign 50

• c.1340-38G>A Multiple submitters
• c.1467+8G>A Multiple submitters Inborn genetic diseases
• c.1632+17_1632+23del Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.394-11G>A Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.394-22G>A Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.672-106A>C Multiple submitters
• c.672-134A>G Multiple submitters
• c.672-80A>G Multiple submitters
• c.-35C>A Multiple submitters
• p.Pro263= Multiple submitters Inborn genetic diseases
• p.Pro516= Multiple submitters Inborn genetic diseases
• p.Thr748= Multiple submitters Inborn genetic diseases
• p.Val285= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Val747= Multiple submitters Inborn genetic diseases
• c.1340-17delinsGTAA Single submitter
• c.1467+160G>A Single submitter
• c.1467+182C>T Single submitter
• c.1467+202T>C Single submitter
• c.1468-219_1468-204del Single submitter
• c.1468-8C>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1632+8G>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1865-13del Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2172-18C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.258+235C>T Single submitter
• c.393+327_393+337del Single submitter
• c.394-139C>A Single submitter
• c.394-176_394-175insA Single submitter
• c.394-188_394-130del Single submitter
• c.570+263G>C Single submitter
• c.571-1141G>A Single submitter
• c.672-267_672-229del Single submitter
• c.672-324G>A Single submitter
• c.672-330A>G Single submitter
• c.968+151C>T Single submitter
• c.968+274A>G Single submitter
• c.969-177G>A Single submitter
• p.Arg359Cys Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg377= Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Asn47Tyr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ile366Met Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu248= Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu506Phe Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Leu632= Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu862= Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Lys778= Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Pro872Ala Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Thr486= Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Thr8Met Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Tyr535= Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Val572= Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

Benign/Likely benign 29

• c.1198-3del Multiple submitters Inborn genetic diseases
• c.1198-7C>T Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1340-17C>A Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1340-18_1340-17insGTA Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1632+14G>A Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1864+17C>T Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1865-13C>T Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2333+9C>A Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.258+18C>T Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.394-19G>A Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.394-4G>A Multiple submitters developmental and epileptic encephalopathy 101
• c.570+10G>A Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.570+12C>T Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.570+13G>A Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.793+23dup Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.969-3T>C Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ala175= Multiple submitters Inborn genetic diseases
• p.Asp169= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Glu528= Multiple submitters Inborn genetic diseases
• p.Gly383= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gly445= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ile776= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu505= Multiple submitters Inborn genetic diseases
• p.Leu603= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu82= Multiple submitters Inborn genetic diseases
• p.Phe348= Multiple submitters Inborn genetic diseases
• p.Thr8Pro Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Tyr88= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Val288= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant

Likely benign 561

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

• c.1113+17A>T Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1467+19G>A Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1468-17G>C Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1751+13C>T Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2013+16G>T Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2013+19G>A Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2171+14G>A Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2172-12C>T Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2334-18A>T Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2443+14C>T Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2443+15A>G Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2444-10C>T Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.258+19G>A Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2700+11G>C Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.393+12T>C Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.394-13C>T Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.394-32A>G Multiple submitters
• c.394-38G>A Multiple submitters
• c.570+16G>A Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.570+20G>A Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.571-4G>A Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.793+12G>A Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.793+14C>T Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.793+15T>C Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.969-16A>G Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.969-4C>G Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ala111= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ala21= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ala211= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ala223= Multiple submitters Inborn genetic diseases
• p.Ala331= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ala524= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ala804= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ala854= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Arg260= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Arg663= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Asn203= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Asn499= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Asn592= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Asn674= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Asn99= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Asp283= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Asp669= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Asp745= Multiple submitters Inborn genetic diseases
• p.Cys22= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Cys744= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gln393= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Glu210= Multiple submitters Inborn genetic diseases
• p.Glu522= Multiple submitters Inborn genetic diseases
• p.Glu707= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Glu751= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gly274= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gly418= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gly567= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gly815= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gly827= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.His101= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.His171= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.His293= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.His477= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.His53= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ile26= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ile460= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ile546= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ile664= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu119= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu135= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu165= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu267Ile Multiple submitters Inborn genetic diseases
• p.Leu466= Multiple submitters Inborn genetic diseases
• p.Leu541= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu562= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu699= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu777= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Lys378= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Lys421= Multiple submitters Inborn genetic diseases
• p.Lys483= Multiple submitters Inborn genetic diseases
• p.Phe738= Multiple submitters Inborn genetic diseases
• p.Phe784= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Phe829= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Pro117= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Pro142= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Pro304= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ser129= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ser549= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ser741= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ser766= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ser933= Multiple submitters Inborn genetic diseases
• p.Thr182= Multiple submitters Inborn genetic diseases
• p.Thr205= Multiple submitters Inborn genetic diseases
• p.Thr35= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Thr450= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Thr550= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Thr602= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Tyr232= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Tyr837= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Val218= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Val249= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Val514Leu Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1113+20G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1114-11C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1114-15T>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1114-5C>T Single submitter
• c.1114-7C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1114-8A>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1114-8dup Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1197+10C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1197+11C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1197+13C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1197+15G>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1197+22del Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1197+7G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1197+8C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1197+9C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1198-14C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1198-176T>C Single submitter
• c.1198-17C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1198-231C>G Single submitter
• c.1198-231dup Single submitter
• c.1198-3dup Single submitter
• c.1198-4C>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1198-4C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1198-5C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1198-9C>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1339+11G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1339+12G>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1339+12G>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1339+14G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1339+16_1339+27del Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1339+16A>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1339+17GGGCGCG[3] Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1339+20C>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1339+20C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1339+28_1339+34del Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1339+29_1340-45del Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1339+9G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1339+9G>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1340-11C>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1340-13C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1340-15C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1340-17C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1340-17C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1340-18_1340-17insATA Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1340-1G>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1340-3del Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1467+11C>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1467+11C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1467+12G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1467+12G>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1467+14C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1467+16G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1467+16G>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1467+17G>A Single submitter
• c.1467+19del Single submitter
• c.1467+20T>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1467+223T>C Single submitter
• c.1467+7_1467+14del Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1468-10C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1468-15T>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1468-18G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1468-19C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1468-219_1468-218del Single submitter
• c.1468-4G>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1468-7C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1632+12C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1632+13C>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1632+13C>G Single submitter
• c.1632+13C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1632+16del Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1632+16dup Single submitter
• c.1632+16G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1632+17T>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1632+17T>G Single submitter
• c.1632+20_1632+22del Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1632+20_1632+23del Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1632+20C>G Single submitter
• c.1632+20C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1632+24_1632+25insGGGGGGGG Single submitter
• c.1632+24_1632+25insGGGGGGGGGGGGGG Single submitter
• c.1632+27_1632+28insGGGGGTGG Single submitter
• c.1632+7A>T Single submitter
• c.1633-12G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1633-14G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1633-4G>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1633-5C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1633-8C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1751+14G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1751+17G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1751+17G>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1751+8C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1752-16C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1752-4G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1752-6C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1752-9G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1752-9G>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1864+10C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1864+14C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1864+15G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1864+18C>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1864+19C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1864+20G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1864+20G>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1864+9C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1865-11C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1865-16C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1865-17C>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1865-17C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1865-19G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1865-4A>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1865-8G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2013+14G>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2013+17C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2013+17C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2013+19G>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2013+20G>T Single submitter
• c.2014-10G>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2014-11C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2014-15C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2014-20C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2014-20C>T Single submitter
• c.2014-8C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2171+10G>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2171+13C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2171+18A>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2171+20C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2171+8G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2171+9C>T Single submitter
• c.2172-13C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2172-15C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2172-15C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2333+11G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2333+12T>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2333+14C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2333+14C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2333+16C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2333+56C>T Single submitter
• c.2333+6T>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2333+7G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2333+7G>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2333+7G>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2334-10C>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2334-2A>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2334-6del Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2334-8A>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2443+12_2443+14del Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2443+16T>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2443+19A>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2443+7T>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2444-15G>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2444-18C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2444-7C>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.258+12C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.258+8C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2589+11C>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2589+12C>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2589+12C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2589+20G>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2589+9G>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.259-10G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.259-13_259-11del Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.259-18T>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.259-18T>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.259-203G>A Single submitter
• c.259-9T>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2590-13A>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2590-18T>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2700+11G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2700+12A>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2700+8G>A Single submitter
• c.2700+8G>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2701-14G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.393+12T>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.393+13G>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.393+156G>A Single submitter
• c.394-11G>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.394-12C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.394-12C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.394-14C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.394-16C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.394-20C>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.394-20C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.394-215G>A Single submitter
• c.394-22_394-20delinsACT Single submitter
• c.394-247_394-188del Single submitter
• c.394-267A>G Single submitter
• c.394-307G>A Single submitter
• c.394-5C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.394-9C>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.394-9C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.570+15C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.570+16G>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.570+17C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.570+19G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.570+4A>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.571-18C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.571-19A>C Single submitter
• c.571-4G>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.571-5C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.571-778G>A Single submitter
• c.571-804C>T Single submitter

Uncertain significance 411

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

• c.1198-3C>A Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1198-3C>T Multiple submitters Inborn genetic diseases
• c.1339+15C>T Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2444-16G>A Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ala211Thr Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ala349Thr Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ala854Thr Multiple submitters Inborn genetic diseases ⚠
• p.Arg139Cys Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg139His Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg156Ser Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Arg859Gln Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg894His Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asn724= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Asn724Tyr Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asn99Ile Multiple submitters Inborn genetic diseases ⚠
• p.Asp169Asn Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asp227Asn Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asp332Glu Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asp461Gly Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asp723His Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gln453His Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Glu339Gly Multiple submitters Inborn genetic diseases ⚠
• p.Glu596Lys Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gly112Ser Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gly318Arg Multiple submitters Inborn genetic diseases ⚠
• p.Gly336Val Multiple submitters ⚠
• p.Gly445Asp Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gly445Val Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gly482Val Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gly823Asp Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gly927Asp Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.His935Gln Multiple submitters Inborn genetic diseases ⚠
• p.Ile379Asn Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ile776Thr Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Leu361= Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu517Pro Multiple submitters Inborn genetic diseases ⚠
• p.Lys298del Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Lys685Arg Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Met512Thr Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Met702Thr Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Phe424Ser Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Phe484Leu Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Pro319Ser Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Pro319Thr Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Pro447Leu Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Pro447Ser Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Pro532Ser Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ser416Asn Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Thr35Ala Multiple submitters ⚠
• p.Thr419Pro Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Thr442Met Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Thr900Ser Multiple submitters Inborn genetic diseases ⚠
• p.Tyr144Asp Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Tyr245Phe Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive ⚠
• p.Tyr456His Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Val292Leu Multiple submitters neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• c.1113+3A>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1113+5G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1113+5G>C Single submitter
• c.1113+8G>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1114-3C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1198-19G>C Single submitter hemimegalencephaly
• c.1198-6C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1339+9_1339+10delinsTT Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1632+6C>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1632+6C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1633-3C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1751+3G>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1752-1G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1752-5C>G Single submitter
• c.1864+20G>C Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive
• c.1864+6G>T Single submitter
• c.1865-19_1865-18delinsAA Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.1865-3C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2172-3C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2172-5G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2333+3G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2443+4C>T Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2444-3_2470dup Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.2589+5G>A Single submitter
• c.2700+6G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.571-803G>A Single submitter Inborn genetic diseases
• c.671+5G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.671+6G>A Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.793+6T>G Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.968+12_968+32del Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.968+19_968+20delinsAG Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• c.*18C>T Single submitter
• c.*269C>G Single submitter intellectual disability
• c.*301A>G Single submitter
• p.Ala176Thr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ala191Thr Single submitter Inborn genetic diseases ⚠
• p.Ala206Ser Single submitter Inborn genetic diseases ⚠
• p.Ala211Val Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ala236Val Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ala262Thr Single submitter ⚠
• p.Ala289Ser Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ala291Val Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ala31Glu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ala31Val Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ala331Thr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ala45Val Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ala467Thr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ala524Pro Single submitter ⚠
• p.Ala62Asp Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ala649Val Single submitter ⚠
• p.Ala714Glu Single submitter ⚠
• p.Ala814= Single submitter
• p.Ala854Ser Single submitter ⚠
• p.Ala870Thr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ala89Thr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ala908Gly Single submitter ⚠
• p.Ala908Thr Single submitter Inborn genetic diseases ⚠
• p.Arg124Cys Single submitter ⚠
• p.Arg156Cys Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg174Gly Single submitter Inborn genetic diseases ⚠
• p.Arg179His Single submitter ⚠
• p.Arg187Cys Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg217Gln Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg217Trp Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg252His Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg306Gln Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg346Trp Single submitter ⚠
• p.Arg43Leu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Arg448Gly Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg468Gln Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg468Trp Single submitter ⚠
• p.Arg523Cys Single submitter ⚠
• p.Arg52Gln Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg548Gly Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg588Trp Single submitter ⚠
• p.Arg5Cys Single submitter ⚠
• p.Arg630Cys Single submitter ⚠
• p.Arg694Gln Single submitter ⚠
• p.Arg694Trp Single submitter ⚠
• p.Arg704Gln Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg763Ser Single submitter ⚠
• p.Arg801Cys Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg801Ser Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg839Gln Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg844His Single submitter ⚠
• p.Arg845Gln Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg859Trp Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg895Lys Single submitter ⚠
• p.Arg906Ser Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Arg919Pro Single submitter ⚠
• p.Arg919Ter Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Asn257Ile Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asn28Asp Single submitter Inborn genetic diseases ⚠
• p.Asn28Ile Single submitter ⚠
• p.Asn300Asp Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asn311Asp Single submitter ⚠
• p.Asn313_Ile314insThrAsn Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Asn375Lys Single submitter ⚠
• p.Asn440Thr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asn616Lys Single submitter ⚠
• p.Asn61Lys Single submitter ⚠
• p.Asn70Ser Single submitter ⚠
• p.Asn710Ser Single submitter ⚠
• p.Asn771Asp Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asn856Lys Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asn99Ser Single submitter ⚠
• p.Asp130Asn Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asp170Glu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asp170His Single submitter ⚠
• p.Asp264Asn Single submitter ⚠
• p.Asp303Glu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asp303Tyr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asp303Val Single submitter Inborn genetic diseases
• p.Asp376Tyr Single submitter ⚠
• p.Asp441His Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asp481Glu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asp552Val Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asp599His Single submitter ⚠
• p.Asp658Gly Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asp669His Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Asp690Glu Single submitter ⚠
• p.Asp914His Single submitter ⚠
• p.Cys15Ser Single submitter ⚠
• p.Cys22Tyr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Cys455Ser Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Cys455Trp Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Cys459Tyr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Cys798Ser Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Cys932Arg Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gln290His Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gln559His Single submitter Inborn genetic diseases ⚠
• p.Gln59Arg Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gln696His Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gln73His Single submitter ⚠
• p.Gln796Glu Single submitter ⚠
• p.Gln863= Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gln863Lys Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gln86His Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Glu172Gln Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Glu186Lys Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Glu188Lys Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Glu213Asp Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Glu253= Single submitter
• p.Glu387Gly Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Glu39Ter Single submitter
• p.Glu422Gly Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Glu423Lys Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Glu522Asp Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Glu528Gly Single submitter ⚠
• p.Glu596Leu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Glu597Lys Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Glu739Gln Single submitter ⚠
• p.Glu781Lys Single submitter ⚠
• p.Glu80Lys Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Glu834Ala Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Glu926Gly Single submitter
• p.Glu937_Ser938delinsAspCys Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gly265Asp Single submitter ⚠
• p.Gly333Trp Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gly384Arg Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gly418Arg Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gly428Arg Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gly428fs Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gly438Arg Single submitter ⚠
• p.Gly445Ser Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gly457Arg Single submitter ⚠
• p.Gly457Ser Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gly508Arg Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gly54Ser Single submitter ⚠
• p.Gly587= Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Gly638Asp Single submitter ⚠
• p.Gly638Ser Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gly757Arg Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gly815Glu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Gly907Ala Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.His293_Glu294insLeuAsp Single submitter
• p.His477Gln Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.His53Asp Single submitter ⚠
• p.His67Gln Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ile301Val Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ile314Val Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ile380Thr Single submitter
• p.Ile400Thr Single submitter ⚠
• p.Ile513Asn Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ile519Val Single submitter ⚠
• p.Ile527Leu Single submitter ⚠
• p.Ile619Thr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ile643Thr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ile691Met Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ile691Ser Single submitter ⚠
• p.Ile730Leu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Ile828Phe Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Ile833= Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu121Pro Single submitter ⚠
• p.Leu12Pro Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu207Val Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Leu267Phe Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Leu271Ile Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Leu295Val Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive ⚠
• p.Leu415Val Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Leu463Phe Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal recessive ⚠
• p.Leu538Pro Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Leu541Arg Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Leu541Pro Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Leu655Gln Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Leu657Met Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Leu672Pro Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Leu752Gln Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Leu777fs Single submitter intellectual disability
• p.Leu850Pro Single submitter ⚠
• p.Lys190= Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Lys25Asn Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Lys316Arg Single submitter ⚠
• p.Lys347Asn Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Lys388Arg Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Lys412Asn Single submitter ⚠
• p.Lys433del Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Lys465Met Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Lys483Arg Single submitter ⚠
• p.Lys495Gln Single submitter ⚠
• p.Lys495Glu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Lys708Gln Single submitter ⚠
• p.Lys743Arg Single submitter ⚠
• p.Lys778Asn Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Lys778Thr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Lys846fs Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Lys898Arg Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Lys898fs Single submitter
• p.Met125Thr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Met154Ile Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Met154Lys Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Met155Ile Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Met209Thr Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Met237Ile Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Met41Ile Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Met41Leu Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Met4fs Single submitter
• p.Met501Ile Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Met501Val Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant ⚠
• p.Met512Arg Single submitter ⚠
• p.Met634Ile Single submitter ⚠
• p.Met702Leu Single submitter Inborn genetic diseases ⚠
• p.Met762_Arg763del Single submitter neurodevelopmental disorder with or without hyperkinetic movements and seizures, autosomal dominant
• p.Phe321Cys Single submitter ⚠