SYNJ1 — 1538 ClinVar variants

All ClinVar germline SYNJ1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more.

35 Pathogenic · 6 Pathogenic/Likely pathogenic · 15 Likely pathogenic · 25 Conflicting · 46 Benign · 13 Benign/Likely benign · 663 Likely benign · 735 Uncertain significance

Full SYNJ1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

All SYNJ1 variants

Pathogenic 35

p.Arg219Gln Multiple submitters young-onset Parkinson disease
p.Arg97Ter Multiple submitters SYNJ1-related disorder
c.3248-2A>G Single submitter Inborn genetic diseases
c.-12G>T Single submitter developmental and epileptic encephalopathy, 53
p.Ala1100fs Single submitter Inborn genetic diseases
p.Ala1147fs Single submitter developmental and epileptic encephalopathy, 53
p.Arg1070Ter Single submitter developmental and epileptic encephalopathy, 53
p.Arg1289Ter Single submitter developmental and epileptic encephalopathy, 53
p.Arg211Ter Single submitter
p.Arg250Ter Single submitter developmental and epileptic encephalopathy, 53
p.Arg380Ter Single submitter developmental and epileptic encephalopathy, 53
p.Arg494Ter Single submitter early-onset Parkinson disease 20
p.Arg932fs Single submitter early-onset Parkinson disease 20
p.Asn955fs Single submitter developmental and epileptic encephalopathy, 53
p.Gln1176Ter Single submitter developmental and epileptic encephalopathy, 53
p.Gln248fs Single submitter
p.Gln356Ter Single submitter developmental and epileptic encephalopathy, 53
p.Gln405Ter Single submitter early-onset Parkinson disease 20
p.Gln608fs Single submitter Inborn genetic diseases
p.Gln748fs Single submitter developmental and epileptic encephalopathy, 53
p.Gln889fs Single submitter developmental and epileptic encephalopathy, 53
p.Glu874Ter Single submitter developmental and epileptic encephalopathy, 53
p.Gly1152_Val1153insTer Single submitter early-onset Parkinson disease 20
p.Ile1086fs Single submitter developmental and epileptic encephalopathy, 53
p.Ile116fs Single submitter developmental and epileptic encephalopathy, 53
p.Ile966fs Single submitter developmental and epileptic encephalopathy, 53
p.Lys3fs Single submitter developmental and epileptic encephalopathy, 53
p.Met428fs Single submitter developmental and epileptic encephalopathy, 53
p.Pro566fs Single submitter developmental and epileptic encephalopathy, 53
p.Ser1043fs Single submitter developmental and epileptic encephalopathy, 53
p.Thr99fs Single submitter developmental and epileptic encephalopathy, 53
p.Trp132Ter Single submitter early-onset Parkinson disease 20
p.Trp5fs Single submitter developmental and epileptic encephalopathy, 53
p.Arg420Pro No assertion criteria early-onset Parkinson disease 20
p.Trp804Ter No assertion criteria developmental and epileptic encephalopathy, 53

Pathogenic/Likely pathogenic 6

p.Arg534Ter Multiple submitters developmental and epileptic encephalopathy, 53
p.Arg709Ter Multiple submitters SYNJ1-related disorder
p.Gln748Ter Multiple submitters early-onset Parkinson disease 20
p.Thr1220fs Multiple submitters developmental and epileptic encephalopathy, 53
p.Tyr365fs Multiple submitters Autosomal recessive SYNJ1-related disorders
p.Val640fs Multiple submitters early-onset Parkinson disease 20

Likely pathogenic 15

c.1201-2A>G Multiple submitters developmental and epileptic encephalopathy, 53
c.2461+2T>C Multiple submitters developmental and epileptic encephalopathy, 53
c.3478+1G>A Multiple submitters developmental and epileptic encephalopathy, 53
c.2304+1G>T Single submitter
c.2796-2A>C Single submitter developmental and epileptic encephalopathy, 53
c.3247+2T>G Single submitter early-onset Parkinson disease 20
c.3430+1G>A Single submitter developmental and epileptic encephalopathy, 53
c.3589-1G>A Single submitter early-onset Parkinson disease 20
c.3698-2A>T Single submitter SYNJ1-related disorder
c.789+1G>A Single submitter early-onset Parkinson disease 20
p.Arg800Cys Single submitter early-onset Parkinson disease 20
p.Asp752fs Single submitter early-onset Parkinson disease 20
p.Gln198Ter Single submitter early-onset Parkinson disease 20
p.Ile600fs Single submitter developmental and epileptic encephalopathy, 53
p.Trp8Ter Single submitter

Conflicting classifications of pathogenicity 25

c.1511-4A>G Single submitter developmental and epileptic encephalopathy, 53
c.1953-10T>C Single submitter early-onset Parkinson disease 20
c.2874+5G>A Single submitter developmental and epileptic encephalopathy, 53
c.3391+6A>C Single submitter early-onset Parkinson disease 20
c.*443G>A Single submitter developmental and epileptic encephalopathy, 53
c.*677_*679del Single submitter developmental and epileptic encephalopathy, 53
p.Ala1003Thr Single submitter developmental and epileptic encephalopathy, 53
p.Ala512Val Single submitter early-onset Parkinson disease 20
p.Arg1174Cys Single submitter early-onset Parkinson disease 20
p.Arg1201Cys Single submitter developmental and epileptic encephalopathy, 53
p.Arg219Trp Single submitter developmental and epileptic encephalopathy, 53
p.Arg284Lys Single submitter Inborn genetic diseases
p.Asn623Ser Single submitter developmental and epileptic encephalopathy, 53
p.Ile1066Val Single submitter developmental and epileptic encephalopathy, 53
p.Ile705Val Single submitter developmental and epileptic encephalopathy, 53
p.Ile707Thr Single submitter early-onset Parkinson disease 20
p.Leu13Ser Single submitter early-onset Parkinson disease 20
p.Phe128= Single submitter developmental and epileptic encephalopathy, 53
p.Pro1249Leu Single submitter early-onset Parkinson disease 20
p.Ser1069Gly Single submitter developmental and epileptic encephalopathy, 53
p.Ser970Thr Single submitter early-onset Parkinson disease 20
p.Thr1197Met Single submitter developmental and epileptic encephalopathy, 53
p.Tyr361Asn Single submitter developmental and epileptic encephalopathy, 53
p.Val636Ile Single submitter developmental and epileptic encephalopathy, 53
p.Val863Ile Single submitter Inborn genetic diseases

Benign 46

c.1119-8G>T Multiple submitters developmental and epileptic encephalopathy, 53
c.1200+55T>C Multiple submitters
c.1201-3A>T Multiple submitters early-onset Parkinson disease 20
c.1510+13T>A Multiple submitters developmental and epileptic encephalopathy, 53
c.1510+15del Multiple submitters
c.1812-100T>C Multiple submitters
c.3247+266G>A Multiple submitters
c.3391+99A>T Multiple submitters
c.3479-18del Multiple submitters early-onset Parkinson disease 20
c.3518-7G>T Multiple submitters developmental and epileptic encephalopathy, 53
c.3588+14C>T Multiple submitters developmental and epileptic encephalopathy, 53
c.3915+5G>T Multiple submitters developmental and epileptic encephalopathy, 53
c.479+9A>G Multiple submitters developmental and epileptic encephalopathy, 53
c.705+7A>G Multiple submitters developmental and epileptic encephalopathy, 53
c.948+81G>A Multiple submitters
c.-23+128C>T Multiple submitters
c.*186_*187insAATACT Multiple submitters early-onset Parkinson disease 20
c.*329G>A Multiple submitters developmental and epileptic encephalopathy, 53
p.Leu1241= Multiple submitters developmental and epileptic encephalopathy, 53
p.Lys295Arg Multiple submitters developmental and epileptic encephalopathy, 53
c.125-6_125-5del Single submitter developmental and epileptic encephalopathy, 53
c.1510+13del Single submitter
c.1510+16_1510+17del Single submitter developmental and epileptic encephalopathy, 53
c.1511-59T>A Single submitter
c.1812-16del Single submitter early-onset Parkinson disease 20
c.2145+140A>T Single submitter
c.2305-110T>A Single submitter
c.2461+245T>C Single submitter
c.3247+11del Single submitter developmental and epileptic encephalopathy, 53
c.3479-18dup Single submitter early-onset Parkinson disease 20
c.3479-300_3479-299insAA Single submitter
c.3588+10dup Single submitter developmental and epileptic encephalopathy, 53
c.3697+10C>G Single submitter developmental and epileptic encephalopathy, 53
c.3698-3del Single submitter developmental and epileptic encephalopathy, 53
c.479+255A>C Single submitter
c.706-7del Single submitter early-onset Parkinson disease 20
c.949-9del Single submitter developmental and epileptic encephalopathy, 53
c.-23+157dup Single submitter
c.-23+15G>A Single submitter developmental and epileptic encephalopathy, 53
c.*186_*187insAATAC Single submitter early-onset Parkinson disease 20
c.*187_*188delinsAATACTTC Single submitter developmental and epileptic encephalopathy, 53
c.*3+254A>C Single submitter
p.Asp334Gly Single submitter early-onset Parkinson disease 20
p.Gln394= Single submitter developmental and epileptic encephalopathy, 53
p.Leu897= Single submitter developmental and epileptic encephalopathy, 53
p.Thr657= Single submitter developmental and epileptic encephalopathy, 53

Benign/Likely benign 13

c.706-11T>C Multiple submitters developmental and epileptic encephalopathy, 53
c.706-7dup Multiple submitters developmental and epileptic encephalopathy, 53
c.*315G>A Multiple submitters developmental and epileptic encephalopathy, 53
c.*611C>T Multiple submitters developmental and epileptic encephalopathy, 53
c.*690G>A Multiple submitters developmental and epileptic encephalopathy, 53
c.*732C>T Multiple submitters developmental and epileptic encephalopathy, 53
p.Ala2= Multiple submitters developmental and epileptic encephalopathy, 53
p.Leu638= Multiple submitters developmental and epileptic encephalopathy, 53
p.Met981Ile Multiple submitters developmental and epileptic encephalopathy, 53
p.Pro15Ser Multiple submitters developmental and epileptic encephalopathy, 53
p.Thr191= Multiple submitters developmental and epileptic encephalopathy, 53
p.Val516Ile Multiple submitters developmental and epileptic encephalopathy, 53
p.Val742= Multiple submitters developmental and epileptic encephalopathy, 53

Likely benign 663

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

c.1118+7C>T Multiple submitters early-onset Parkinson disease 20
c.1200+19A>G Multiple submitters early-onset Parkinson disease 20
c.125-17A>G Multiple submitters early-onset Parkinson disease 20
c.1353+27C>T Multiple submitters
c.1811+12A>G Multiple submitters developmental and epileptic encephalopathy, 53
c.1811+16T>C Multiple submitters developmental and epileptic encephalopathy, 53
c.1811+51A>G Multiple submitters
c.1811+8_1811+9insCTT Multiple submitters developmental and epileptic encephalopathy, 53
c.1811+8A>G Multiple submitters developmental and epileptic encephalopathy, 53
c.1953-19A>T Multiple submitters early-onset Parkinson disease 20
c.2145+13T>C Multiple submitters early-onset Parkinson disease 20
c.2304+55C>T Multiple submitters
c.2875-20T>C Multiple submitters developmental and epileptic encephalopathy, 53
c.2875-5G>A Multiple submitters developmental and epileptic encephalopathy, 53
c.3038-19C>G Multiple submitters developmental and epileptic encephalopathy, 53
c.3392-96T>A Multiple submitters
c.3479-29T>G Multiple submitters
c.3588+128G>A Multiple submitters
c.3589-121T>C Multiple submitters
c.3589-16T>G Multiple submitters developmental and epileptic encephalopathy, 53
c.3697+12T>G Multiple submitters early-onset Parkinson disease 20
c.3915+7C>G Multiple submitters early-onset Parkinson disease 20
c.3916-135A>G Multiple submitters
c.705+17A>G Multiple submitters developmental and epileptic encephalopathy, 53
c.706-19A>G Multiple submitters developmental and epileptic encephalopathy, 53
c.790-18A>G Multiple submitters developmental and epileptic encephalopathy, 53
c.851+43A>G Multiple submitters
c.-22-4G>T Multiple submitters developmental and epileptic encephalopathy, 53
c.-31G>C Multiple submitters early-onset Parkinson disease 20
c.-37G>A Multiple submitters developmental and epileptic encephalopathy, 53
c.-49A>G Multiple submitters early-onset Parkinson disease 20
c.-64C>A Multiple submitters developmental and epileptic encephalopathy, 53
c.-64C>T Multiple submitters developmental and epileptic encephalopathy, 53
c.-76C>A Multiple submitters developmental and epileptic encephalopathy, 53
c.*120G>A Multiple submitters early-onset Parkinson disease 20
c.*223A>G Multiple submitters Inborn genetic diseases
c.*393C>T Multiple submitters early-onset Parkinson disease 20
c.*487C>T Multiple submitters developmental and epileptic encephalopathy, 53
c.*4G>A Multiple submitters early-onset Parkinson disease 20
c.*522G>C Multiple submitters developmental and epileptic encephalopathy, 53
c.*552G>A Multiple submitters developmental and epileptic encephalopathy, 53
c.*618A>G Multiple submitters early-onset Parkinson disease 20
c.*666A>G Multiple submitters developmental and epileptic encephalopathy, 53
c.*728C>T Multiple submitters developmental and epileptic encephalopathy, 53
c.*75A>G Multiple submitters developmental and epileptic encephalopathy, 53
c.*798T>C Multiple submitters early-onset Parkinson disease 20
c.*801A>G Multiple submitters developmental and epileptic encephalopathy, 53
p.Ala1020= Multiple submitters developmental and epileptic encephalopathy, 53
p.Ala1091= Multiple submitters early-onset Parkinson disease 20
p.Ala1212= Multiple submitters developmental and epileptic encephalopathy, 53
p.Ala1212Val Multiple submitters developmental and epileptic encephalopathy, 53
p.Ala281= Multiple submitters developmental and epileptic encephalopathy, 53
p.Ala344Thr Multiple submitters developmental and epileptic encephalopathy, 53
p.Arg1213= Multiple submitters early-onset Parkinson disease 20
p.Arg675= Multiple submitters early-onset Parkinson disease 20
p.Asn739= Multiple submitters developmental and epileptic encephalopathy, 53
p.Gly261= Multiple submitters developmental and epileptic encephalopathy, 53
p.Gly303= Multiple submitters developmental and epileptic encephalopathy, 53
p.Ile108= Multiple submitters developmental and epileptic encephalopathy, 53
p.Ile735= Multiple submitters developmental and epileptic encephalopathy, 53
p.Leu141= Multiple submitters developmental and epileptic encephalopathy, 53
p.Leu31= Multiple submitters developmental and epileptic encephalopathy, 53
p.Leu711= Multiple submitters developmental and epileptic encephalopathy, 53
p.Leu847= Multiple submitters
p.Leu999= Multiple submitters developmental and epileptic encephalopathy, 53
p.Lys295= Multiple submitters early-onset Parkinson disease 20
p.Lys55= Multiple submitters developmental and epileptic encephalopathy, 53
p.Lys985= Multiple submitters early-onset Parkinson disease 20
p.Pro1090= Multiple submitters developmental and epileptic encephalopathy, 53
p.Pro1108= Multiple submitters early-onset Parkinson disease 20
p.Pro1254= Multiple submitters developmental and epileptic encephalopathy, 53
p.Pro1304= Multiple submitters developmental and epileptic encephalopathy, 53
p.Pro782= Multiple submitters developmental and epileptic encephalopathy, 53
p.Ser1251= Multiple submitters developmental and epileptic encephalopathy, 53
p.Ser349Gly Multiple submitters developmental and epileptic encephalopathy, 53
p.Ser427= Multiple submitters early-onset Parkinson disease 20
p.Ser430= Multiple submitters developmental and epileptic encephalopathy, 53
p.Ser992= Multiple submitters early-onset Parkinson disease 20
p.Thr1193= Multiple submitters developmental and epileptic encephalopathy, 53
p.Thr419= Multiple submitters early-onset Parkinson disease 20
p.Tyr724= Multiple submitters developmental and epileptic encephalopathy, 53
p.Val653= Multiple submitters developmental and epileptic encephalopathy, 53
c.1118+11T>G Single submitter early-onset Parkinson disease 20
c.1118+14G>A Single submitter developmental and epileptic encephalopathy, 53
c.1118+9G>A Single submitter developmental and epileptic encephalopathy, 53
c.1119-12T>C Single submitter developmental and epileptic encephalopathy, 53
c.1119-7G>A Single submitter developmental and epileptic encephalopathy, 53
c.1119-7G>C Single submitter developmental and epileptic encephalopathy, 53
c.1201-16_1201-15del Single submitter developmental and epileptic encephalopathy, 53
c.1201-17C>A Single submitter early-onset Parkinson disease 20
c.1201-20T>G Single submitter early-onset Parkinson disease 20
c.1201-8T>G Single submitter early-onset Parkinson disease 20
c.124+12G>T Single submitter developmental and epileptic encephalopathy, 53
c.124+19C>G Single submitter developmental and epileptic encephalopathy, 53
c.124+19C>T Single submitter developmental and epileptic encephalopathy, 53
c.124+20C>T Single submitter developmental and epileptic encephalopathy, 53
c.124+7C>T Single submitter
c.125-13del Single submitter developmental and epileptic encephalopathy, 53
c.125-148A>C Single submitter
c.125-17_125-12dup Single submitter developmental and epileptic encephalopathy, 53
c.125-4del Single submitter developmental and epileptic encephalopathy, 53
c.1353+15A>C Single submitter developmental and epileptic encephalopathy, 53
c.1353+15A>G Single submitter early-onset Parkinson disease 20
c.1353+17C>T Single submitter developmental and epileptic encephalopathy, 53
c.1353+18A>G Single submitter developmental and epileptic encephalopathy, 53
c.1353+20A>G Single submitter early-onset Parkinson disease 20
c.1353+7C>T Single submitter developmental and epileptic encephalopathy, 53
c.1354-9G>T Single submitter developmental and epileptic encephalopathy, 53
c.1510+14A>G Single submitter early-onset Parkinson disease 20
c.1510+20T>C Single submitter developmental and epileptic encephalopathy, 53
c.1511-14T>G Single submitter developmental and epileptic encephalopathy, 53
c.1511-16_1511-14del Single submitter developmental and epileptic encephalopathy, 53
c.1511-164C>T Single submitter
c.1511-19C>T Single submitter developmental and epileptic encephalopathy, 53
c.1511-320T>C Single submitter
c.1511-5C>A Single submitter developmental and epileptic encephalopathy, 53
c.1534+16T>A Single submitter developmental and epileptic encephalopathy, 53
c.1534+17C>T Single submitter developmental and epileptic encephalopathy, 53
c.1534+9T>C Single submitter developmental and epileptic encephalopathy, 53
c.1535-142G>A Single submitter
c.1535-18G>A Single submitter developmental and epileptic encephalopathy, 53
c.1535-19T>C Single submitter developmental and epileptic encephalopathy, 53
c.1535-202del Single submitter
c.1535-202dup Single submitter
c.1726+10_1726+11insA Single submitter developmental and epileptic encephalopathy, 53
c.1726+155A>G Single submitter
c.1726+18T>C Single submitter early-onset Parkinson disease 20
c.1727-11C>T Single submitter early-onset Parkinson disease 20
c.1727-12G>A Single submitter developmental and epileptic encephalopathy, 53
c.1727-18T>C Single submitter developmental and epileptic encephalopathy, 53
c.1727-19C>T Single submitter developmental and epileptic encephalopathy, 53
c.1811+266T>A Single submitter
c.1811+9G>A Single submitter developmental and epileptic encephalopathy, 53
c.1812-10T>A Single submitter early-onset Parkinson disease 20
c.1812-16T>G Single submitter developmental and epileptic encephalopathy, 53
c.1812-4G>A Single submitter developmental and epileptic encephalopathy, 53
c.1812-4G>T Single submitter developmental and epileptic encephalopathy, 53
c.1952+14A>G Single submitter developmental and epileptic encephalopathy, 53
c.1952+17C>T Single submitter early-onset Parkinson disease 20
c.1952+19C>T Single submitter early-onset Parkinson disease 20
c.1953-16A>C Single submitter developmental and epileptic encephalopathy, 53
c.1953-9G>T Single submitter developmental and epileptic encephalopathy, 53
c.211+11C>T Single submitter early-onset Parkinson disease 20
c.211+169C>A Single submitter
c.211+19A>G Single submitter developmental and epileptic encephalopathy, 53
c.212-13T>C Single submitter developmental and epileptic encephalopathy, 53
c.212-14T>C Single submitter developmental and epileptic encephalopathy, 53
c.212-15C>A Single submitter early-onset Parkinson disease 20
c.212-210G>A Single submitter
c.2145+14G>A Single submitter early-onset Parkinson disease 20
c.2145+18G>A Single submitter developmental and epileptic encephalopathy, 53
c.2145+8C>A Single submitter developmental and epileptic encephalopathy, 53
c.2145+8C>G Single submitter early-onset Parkinson disease 20
c.2145+8C>T Single submitter developmental and epileptic encephalopathy, 53
c.2146-12C>G Single submitter developmental and epileptic encephalopathy, 53
c.2146-14C>G Single submitter developmental and epileptic encephalopathy, 53
c.2146-7C>T Single submitter developmental and epileptic encephalopathy, 53
c.2146-8G>A Single submitter early-onset Parkinson disease 20
c.2304+15G>C Single submitter early-onset Parkinson disease 20
c.2304+17_2304+20del Single submitter early-onset Parkinson disease 20
c.2304+20A>G Single submitter developmental and epileptic encephalopathy, 53
c.2304+9A>G Single submitter developmental and epileptic encephalopathy, 53
c.2305-15A>G Single submitter developmental and epileptic encephalopathy, 53
c.2305-17G>A Single submitter developmental and epileptic encephalopathy, 53
c.2305-17G>C Single submitter developmental and epileptic encephalopathy, 53
c.2462-10C>G Single submitter early-onset Parkinson disease 20
c.2462-18C>T Single submitter
c.2462-19T>C Single submitter developmental and epileptic encephalopathy, 53
c.2462-5T>C Single submitter developmental and epileptic encephalopathy, 53
c.2462-6C>A Single submitter developmental and epileptic encephalopathy, 53
c.2579+14_2579+15del Single submitter early-onset Parkinson disease 20
c.2579+14C>G Single submitter developmental and epileptic encephalopathy, 53
c.2580-14C>T Single submitter developmental and epileptic encephalopathy, 53
c.2580-20A>C Single submitter developmental and epileptic encephalopathy, 53
c.2580-20A>G Single submitter developmental and epileptic encephalopathy, 53
c.2580-7C>T Single submitter developmental and epileptic encephalopathy, 53
c.2580-9T>C Single submitter developmental and epileptic encephalopathy, 53
c.2795+10T>C Single submitter developmental and epileptic encephalopathy, 53
c.2795+16T>A Single submitter developmental and epileptic encephalopathy, 53
c.2795+16T>C Single submitter early-onset Parkinson disease 20
c.2795+20A>G Single submitter developmental and epileptic encephalopathy, 53
c.2795+7T>C Single submitter developmental and epileptic encephalopathy, 53
c.2796-129C>T Single submitter
c.2796-18T>C Single submitter developmental and epileptic encephalopathy, 53
c.2875-12T>C Single submitter developmental and epileptic encephalopathy, 53
c.2875-15_2875-14del Single submitter early-onset Parkinson disease 20
c.2875-17C>G Single submitter developmental and epileptic encephalopathy, 53
c.2875-19_2875-18del Single submitter developmental and epileptic encephalopathy, 53
c.2875-4C>A Single submitter developmental and epileptic encephalopathy, 53
c.2875-6C>T Single submitter early-onset Parkinson disease 20
c.3037+15C>T Single submitter
c.3037+18A>G Single submitter developmental and epileptic encephalopathy, 53
c.3037+19T>C Single submitter developmental and epileptic encephalopathy, 53
c.3038-12G>A Single submitter early-onset Parkinson disease 20
c.3038-14C>T Single submitter developmental and epileptic encephalopathy, 53
c.3038-17A>C Single submitter developmental and epileptic encephalopathy, 53
c.3038-289A>G Single submitter
c.3247+12A>G Single submitter developmental and epileptic encephalopathy, 53
c.3247+15T>G Single submitter developmental and epileptic encephalopathy, 53
c.3247+17A>G Single submitter developmental and epileptic encephalopathy, 53
c.3248-12T>C Single submitter early-onset Parkinson disease 20
c.3248-15C>A Single submitter developmental and epileptic encephalopathy, 53
c.3248-16_3248-14del Single submitter early-onset Parkinson disease 20
c.3248-18C>T Single submitter developmental and epileptic encephalopathy, 53
c.3248-19C>T Single submitter developmental and epileptic encephalopathy, 53
c.3248-21_3248-19del Single submitter developmental and epileptic encephalopathy, 53
c.3248-4T>C Single submitter early-onset Parkinson disease 20
c.3248-6T>C Single submitter developmental and epileptic encephalopathy, 53
c.3248-6T>G Single submitter developmental and epileptic encephalopathy, 53
c.3248-9G>A Single submitter developmental and epileptic encephalopathy, 53
c.3391+15T>A Single submitter developmental and epileptic encephalopathy, 53
c.3391+8C>T Single submitter developmental and epileptic encephalopathy, 53
c.3392-10G>C Single submitter developmental and epileptic encephalopathy, 53
c.3392-12A>G Single submitter early-onset Parkinson disease 20
c.3392-13T>C Single submitter developmental and epileptic encephalopathy, 53
c.3392-13T>G Single submitter developmental and epileptic encephalopathy, 53
c.3392-202_3392-199del Single submitter
c.3392-20A>G Single submitter developmental and epileptic encephalopathy, 53
c.3392-4T>C Single submitter developmental and epileptic encephalopathy, 53
c.3392-5A>G Single submitter developmental and epileptic encephalopathy, 53
c.3392-5A>T Single submitter early-onset Parkinson disease 20
c.3392-7C>T Single submitter developmental and epileptic encephalopathy, 53
c.3392-8A>T Single submitter developmental and epileptic encephalopathy, 53
c.3430+12C>T Single submitter developmental and epileptic encephalopathy, 53
c.3430+17G>C Single submitter developmental and epileptic encephalopathy, 53
c.3431-10C>T Single submitter developmental and epileptic encephalopathy, 53
c.3431-11del Single submitter early-onset Parkinson disease 20
c.3431-17G>A Single submitter developmental and epileptic encephalopathy, 53
c.3431-6A>G Single submitter developmental and epileptic encephalopathy, 53
c.3431-8C>A Single submitter developmental and epileptic encephalopathy, 53
c.3478+11T>C Single submitter developmental and epileptic encephalopathy, 53
c.3478+12C>T Single submitter developmental and epileptic encephalopathy, 53
c.3478+13T>C Single submitter early-onset Parkinson disease 20
c.3478+16C>G Single submitter developmental and epileptic encephalopathy, 53
c.3478+17A>G Single submitter developmental and epileptic encephalopathy, 53
c.3478+9A>T Single submitter early-onset Parkinson disease 20
c.3479-12C>G Single submitter developmental and epileptic encephalopathy, 53
c.3479-12C>T Single submitter developmental and epileptic encephalopathy, 53
c.3479-14T>A Single submitter
c.3479-14T>C Single submitter developmental and epileptic encephalopathy, 53
c.3479-18T>C Single submitter developmental and epileptic encephalopathy, 53
c.3479-9G>T Single submitter developmental and epileptic encephalopathy, 53
c.3517+10C>T Single submitter developmental and epileptic encephalopathy, 53
c.3517+13G>C Single submitter developmental and epileptic encephalopathy, 53
c.3517+14A>G Single submitter developmental and epileptic encephalopathy, 53
c.3517+7A>G Single submitter developmental and epileptic encephalopathy, 53
c.3518-17T>C Single submitter early-onset Parkinson disease 20
c.3518-18A>G Single submitter developmental and epileptic encephalopathy, 53
c.3518-20A>G Single submitter developmental and epileptic encephalopathy, 53
c.3518-5dup Single submitter developmental and epileptic encephalopathy, 53
c.3518-9T>C Single submitter developmental and epileptic encephalopathy, 53
c.3588+15G>A Single submitter developmental and epileptic encephalopathy, 53
c.3588+15G>C Single submitter early-onset Parkinson disease 20
c.3588+20G>A Single submitter developmental and epileptic encephalopathy, 53
c.3588+7A>G Single submitter developmental and epileptic encephalopathy, 53
c.3588+7A>T Single submitter developmental and epileptic encephalopathy, 53
c.3589-10C>G Single submitter developmental and epileptic encephalopathy, 53
c.3589-16T>C Single submitter developmental and epileptic encephalopathy, 53
c.3589-17dup Single submitter developmental and epileptic encephalopathy, 53
c.3589-264T>C Single submitter
c.3589-4G>A Single submitter early-onset Parkinson disease 20
c.3589-8A>T Single submitter developmental and epileptic encephalopathy, 53
c.3697+15G>A Single submitter developmental and epileptic encephalopathy, 53
c.3697+8C>T Single submitter developmental and epileptic encephalopathy, 53
c.3698-12C>T Single submitter developmental and epileptic encephalopathy, 53
c.3698-13A>G Single submitter early-onset Parkinson disease 20
c.3698-15C>T Single submitter developmental and epileptic encephalopathy, 53
c.3698-19A>G Single submitter developmental and epileptic encephalopathy, 53
c.3698-251G>C Single submitter
c.3698-9G>T Single submitter developmental and epileptic encephalopathy, 53
c.3915+10A>G Single submitter developmental and epileptic encephalopathy, 53
c.3915+153AT[8] Single submitter
c.3915+18C>A Single submitter early-onset Parkinson disease 20
c.3915+20C>G Single submitter early-onset Parkinson disease 20
c.3915+20C>T Single submitter early-onset Parkinson disease 20
c.3915+247G>A Single submitter
c.479+10T>C Single submitter developmental and epileptic encephalopathy, 53
c.479+13T>A Single submitter developmental and epileptic encephalopathy, 53
c.479+150G>A Single submitter
c.479+17C>T Single submitter early-onset Parkinson disease 20
c.480-17A>C Single submitter developmental and epileptic encephalopathy, 53
c.480-18T>A Single submitter early-onset Parkinson disease 20
c.480-18T>G Single submitter developmental and epileptic encephalopathy, 53
c.480-5A>G Single submitter developmental and epileptic encephalopathy, 53
c.480-7C>T Single submitter developmental and epileptic encephalopathy, 53
c.705+8T>C Single submitter developmental and epileptic encephalopathy, 53
c.705+9A>G Single submitter developmental and epileptic encephalopathy, 53
c.706-13T>A Single submitter developmental and epileptic encephalopathy, 53
c.706-15T>C Single submitter developmental and epileptic encephalopathy, 53
c.706-16del Single submitter developmental and epileptic encephalopathy, 53
c.706-209T>G Single submitter
c.706-7T>C Single submitter developmental and epileptic encephalopathy, 53
c.706-8T>C Single submitter early-onset Parkinson disease 20
c.789+10T>C Single submitter developmental and epileptic encephalopathy, 53
c.789+12A>G Single submitter developmental and epileptic encephalopathy, 53
c.789+18A>G Single submitter developmental and epileptic encephalopathy, 53
c.789+20T>C Single submitter developmental and epileptic encephalopathy, 53
c.789+8_789+11del Single submitter developmental and epileptic encephalopathy, 53
c.790-14T>G Single submitter early-onset Parkinson disease 20
c.790-20A>G Single submitter early-onset Parkinson disease 20

Uncertain significance 735

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

c.-42A>G Multiple submitters early-onset Parkinson disease 20
c.-47G>C Multiple submitters developmental and epileptic encephalopathy, 53
c.-56G>T Multiple submitters early-onset Parkinson disease 20
c.-57T>G Multiple submitters early-onset Parkinson disease 20
c.-59G>A Multiple submitters Inborn genetic diseases
c.-60G>T Multiple submitters Inborn genetic diseases
c.-64_-53dup Multiple submitters early-onset Parkinson disease 20
c.-67_-56del Multiple submitters early-onset Parkinson disease 20
c.-83A>G Multiple submitters developmental and epileptic encephalopathy, 53
c.-86G>A Multiple submitters developmental and epileptic encephalopathy, 53
c.*110C>T Multiple submitters Inborn genetic diseases
c.*162G>T Multiple submitters early-onset Parkinson disease 20
c.*173C>T Multiple submitters developmental and epileptic encephalopathy, 53
c.*188T>C Multiple submitters early-onset Parkinson disease 20
c.*212C>T Multiple submitters early-onset Parkinson disease 20
c.*230C>T Multiple submitters Inborn genetic diseases
c.*232C>T Multiple submitters early-onset Parkinson disease 20
c.*233G>A Multiple submitters developmental and epileptic encephalopathy, 53
c.*235A>C Multiple submitters developmental and epileptic encephalopathy, 53
c.*257G>A Multiple submitters developmental and epileptic encephalopathy, 53
c.*257G>T Multiple submitters Inborn genetic diseases
c.*265C>A Multiple submitters developmental and epileptic encephalopathy, 53
c.*278T>G Multiple submitters Inborn genetic diseases
c.*319G>C Multiple submitters developmental and epileptic encephalopathy, 53
c.*394G>A Multiple submitters developmental and epileptic encephalopathy, 53
c.*431G>A Multiple submitters developmental and epileptic encephalopathy, 53
c.*527G>A Multiple submitters developmental and epileptic encephalopathy, 53
c.*541G>A Multiple submitters early-onset Parkinson disease 20
c.*574T>A Multiple submitters developmental and epileptic encephalopathy, 53
c.*575C>G Multiple submitters
c.*598C>A Multiple submitters early-onset Parkinson disease 20
c.*661G>A Multiple submitters developmental and epileptic encephalopathy, 53
c.*678C>G Multiple submitters developmental and epileptic encephalopathy, 53
c.*704C>G Multiple submitters early-onset Parkinson disease 20
c.*709C>T Multiple submitters Inborn genetic diseases
c.*719CT[1] Multiple submitters Inborn genetic diseases
c.*733G>A Multiple submitters early-onset Parkinson disease 20
c.*737C>G Multiple submitters Inborn genetic diseases
c.*793G>T Multiple submitters developmental and epileptic encephalopathy, 53
c.*806G>A Multiple submitters Inborn genetic diseases
p.Ala1088Thr Multiple submitters developmental and epileptic encephalopathy, 53
p.Ala1132Ser Multiple submitters developmental and epileptic encephalopathy, 53
p.Ala1147Thr Multiple submitters Inborn genetic diseases
p.Ala1147Val Multiple submitters Inborn genetic diseases
p.Ala1184Pro Multiple submitters Inborn genetic diseases
p.Ala1194Pro Multiple submitters early-onset Parkinson disease 20
p.Ala1202Ser Multiple submitters Inborn genetic diseases
p.Ala201Ser Multiple submitters Inborn genetic diseases
p.Ala450Val Multiple submitters early-onset Parkinson disease 20
p.Ala597Thr Multiple submitters developmental and epileptic encephalopathy, 53
p.Ala629Val Multiple submitters early-onset Parkinson disease 20
p.Arg1047Gly Multiple submitters Inborn genetic diseases
p.Arg1070Gln Multiple submitters early-onset Parkinson disease 20
p.Arg1119Ser Multiple submitters developmental and epileptic encephalopathy, 53
p.Arg1155Gly Multiple submitters developmental and epileptic encephalopathy, 53
p.Arg115Cys Multiple submitters early-onset Parkinson disease 20
p.Arg115Leu Multiple submitters early-onset Parkinson disease 20
p.Arg1195Thr Multiple submitters developmental and epileptic encephalopathy, 53
p.Arg1201His Multiple submitters early-onset Parkinson disease 20
p.Arg120Gln Multiple submitters developmental and epileptic encephalopathy, 53
p.Arg1213Gln Multiple submitters developmental and epileptic encephalopathy, 53
p.Arg1213Trp Multiple submitters Inborn genetic diseases
p.Arg1218Gly Multiple submitters Inborn genetic diseases
p.Arg147His Multiple submitters early-onset Parkinson disease 20
p.Arg268His Multiple submitters developmental and epileptic encephalopathy, 53
p.Arg270His Multiple submitters developmental and epileptic encephalopathy, 53
p.Arg270Leu Multiple submitters early-onset Parkinson disease 20
p.Arg420Cys Multiple submitters developmental and epileptic encephalopathy, 53
p.Arg426Gln Multiple submitters early-onset Parkinson disease 20
p.Arg534Gln Multiple submitters early-onset Parkinson disease 20
p.Arg549His Multiple submitters developmental and epileptic encephalopathy, 53
p.Arg675Gln Multiple submitters developmental and epileptic encephalopathy, 53
p.Arg709Gln Multiple submitters developmental and epileptic encephalopathy, 53
p.Arg800His Multiple submitters developmental and epileptic encephalopathy, 53
p.Arg962Gln Multiple submitters Inborn genetic diseases
p.Arg97Gln Multiple submitters Inborn genetic diseases
p.Asn229His Multiple submitters Inborn genetic diseases
p.Asn367Ser Multiple submitters developmental and epileptic encephalopathy, 53
p.Asn750Lys Multiple submitters developmental and epileptic encephalopathy, 53
p.Asn961Thr Multiple submitters Inborn genetic diseases
p.Asp1014Glu Multiple submitters developmental and epileptic encephalopathy, 53
p.Asp176Glu Multiple submitters early-onset Parkinson disease 20
p.Asp434Gly Multiple submitters Inborn genetic diseases
p.Asp752Tyr Multiple submitters Inborn genetic diseases
p.Gln1124Glu Multiple submitters early-onset Parkinson disease 20
p.Gln920His Multiple submitters early-onset Parkinson disease 20
p.Glu28Ala Multiple submitters early-onset Parkinson disease 20
p.Gly1144Asp Multiple submitters developmental and epileptic encephalopathy, 53
p.Gly1203Arg Multiple submitters Inborn genetic diseases
p.Gly1275Ser Multiple submitters Inborn genetic diseases
p.His848Tyr Multiple submitters
p.Ile1172Thr Multiple submitters Inborn genetic diseases
p.Ile297Val Multiple submitters early-onset Parkinson disease 20
p.Ile436Val Multiple submitters early-onset Parkinson disease 20
p.Ile755Thr Multiple submitters Inborn genetic diseases
p.Ile866Thr Multiple submitters Inborn genetic diseases
p.Ile915Thr Multiple submitters Inborn genetic diseases
p.Ile929Thr Multiple submitters early-onset Parkinson disease 20
p.Leu1241Pro Multiple submitters developmental and epileptic encephalopathy, 53
p.Leu627Pro Multiple submitters early-onset Parkinson disease 20
p.Lys449Arg Multiple submitters developmental and epileptic encephalopathy, 53
p.Lys472Arg Multiple submitters developmental and epileptic encephalopathy, 53
p.Lys567Asn Multiple submitters Inborn genetic diseases
p.Lys609Gln Multiple submitters developmental and epileptic encephalopathy, 53
p.Met428Val Multiple submitters developmental and epileptic encephalopathy, 53
p.Met520Thr Multiple submitters Inborn genetic diseases
p.Met938Ile Multiple submitters early-onset Parkinson disease 20
p.Phe286Leu Multiple submitters developmental and epileptic encephalopathy, 53
p.Phe33Leu Multiple submitters developmental and epileptic encephalopathy, 53
p.Phe7Tyr Multiple submitters Inborn genetic diseases
p.Pro1072Gln Multiple submitters early-onset Parkinson disease 20
p.Pro1093Leu Multiple submitters developmental and epileptic encephalopathy, 53
p.Pro1095Leu Multiple submitters early-onset Parkinson disease 20
p.Pro1108Leu Multiple submitters developmental and epileptic encephalopathy, 53
p.Pro1116Leu Multiple submitters early-onset Parkinson disease 20
p.Pro1123Ala Multiple submitters
p.Pro1126Thr Multiple submitters developmental and epileptic encephalopathy, 53
p.Pro1135Ser Multiple submitters developmental and epileptic encephalopathy, 53
p.Pro1137Leu Multiple submitters Inborn genetic diseases
p.Pro1161Ala Multiple submitters Inborn genetic diseases
p.Pro1199Ser Multiple submitters Inborn genetic diseases
p.Pro1255Leu Multiple submitters early-onset Parkinson disease 20
p.Pro1256Leu Multiple submitters early-onset Parkinson disease 20
p.Pro16Ser Multiple submitters early-onset Parkinson disease 20
p.Pro648Ser Multiple submitters developmental and epileptic encephalopathy, 53
p.Pro905Thr Multiple submitters Inborn genetic diseases
p.Ser1033Pro Multiple submitters developmental and epileptic encephalopathy, 53
p.Ser1175Thr Multiple submitters developmental and epileptic encephalopathy, 53
p.Ser349Ile Multiple submitters Inborn genetic diseases
p.Ser369Asn Multiple submitters developmental and epileptic encephalopathy, 53
p.Ser519Gly Multiple submitters developmental and epileptic encephalopathy, 53
p.Ser682Asn Multiple submitters Inborn genetic diseases
p.Ser796Gly Multiple submitters early-onset Parkinson disease 20
p.Ser835Arg Multiple submitters Inborn genetic diseases
p.Thr419Pro Multiple submitters Inborn genetic diseases
p.Thr582Ala Multiple submitters developmental and epileptic encephalopathy, 53
p.Thr840Met Multiple submitters developmental and epileptic encephalopathy, 53
p.Thr842Ala Multiple submitters early-onset Parkinson disease 20
p.Thr842Asn Multiple submitters developmental and epileptic encephalopathy, 53
p.Thr842Ile Multiple submitters Inborn genetic diseases
p.Trp5Arg Multiple submitters Inborn genetic diseases
p.Tyr293His Multiple submitters early-onset Parkinson disease 20
p.Tyr440His Multiple submitters developmental and epileptic encephalopathy, 53
p.Val1114Ile Multiple submitters early-onset Parkinson disease 20
p.Val431Met Multiple submitters Inborn genetic diseases
p.Val535Ile Multiple submitters developmental and epileptic encephalopathy, 53
p.Val778Ile Multiple submitters early-onset Parkinson disease 20
c.1119-8G>A Single submitter developmental and epileptic encephalopathy, 53
c.1200+2dup Single submitter developmental and epileptic encephalopathy, 53
c.1200+6A>C Single submitter developmental and epileptic encephalopathy, 53
c.124+3A>G Single submitter developmental and epileptic encephalopathy, 53
c.124+5G>C Single submitter
c.1353+5A>G Single submitter early-onset Parkinson disease 20
c.1534+4C>G Single submitter developmental and epileptic encephalopathy, 53
c.1534+5A>G Single submitter developmental and epileptic encephalopathy, 53
c.1726+5G>T Single submitter
c.1726+6C>T Single submitter developmental and epileptic encephalopathy, 53
c.1952+1G>A Single submitter Inborn genetic diseases
c.2145+6C>T Single submitter developmental and epileptic encephalopathy, 53
c.2461+4G>A Single submitter developmental and epileptic encephalopathy, 53
c.2461+5G>T Single submitter developmental and epileptic encephalopathy, 53
c.2874+6G>A Single submitter developmental and epileptic encephalopathy, 53
c.3037+11_3037+12insGGAAGGTTTGTTTCTTTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNACTCGGGATCCTCCCGCCTCTGCCTCCCAATGAGCTGGGATTACAGGCGAGAGCCACGTCGCCCGGCC Single submitter developmental and epileptic encephalopathy, 53
c.3391+4A>G Single submitter
c.3517+6A>C Single submitter developmental and epileptic encephalopathy, 53
c.3588+5G>A Single submitter developmental and epileptic encephalopathy, 53
c.3589-14T>G Single submitter
c.3589-3T>A Single submitter developmental and epileptic encephalopathy, 53
c.3915+5G>A Single submitter developmental and epileptic encephalopathy, 53
c.789+4T>A Single submitter early-onset Parkinson disease 20
c.851+5G>A Single submitter developmental and epileptic encephalopathy, 53
c.-22-3C>T Single submitter developmental and epileptic encephalopathy, 53
c.-23+3G>A Single submitter developmental and epileptic encephalopathy, 53
c.-23+3G>T Single submitter early-onset Parkinson disease 20
c.-23+5G>A Single submitter developmental and epileptic encephalopathy, 53
c.-23+6C>T Single submitter Inborn genetic diseases
c.-23G>A Single submitter developmental and epileptic encephalopathy, 53
c.-23G>C Single submitter developmental and epileptic encephalopathy, 53
c.-27A>G Single submitter developmental and epileptic encephalopathy, 53
c.-28_-23+5dup Single submitter Inborn genetic diseases
c.-29G>A Single submitter early-onset Parkinson disease 20
c.-30A>G Single submitter developmental and epileptic encephalopathy, 53
c.-32G>A Single submitter
c.-33C>T Single submitter developmental and epileptic encephalopathy, 53
c.-43G>C Single submitter early-onset Parkinson disease 20
c.-44G>C Single submitter Inborn genetic diseases
c.-46GAG[5] Single submitter developmental and epileptic encephalopathy, 53
c.-47G>A Single submitter Inborn genetic diseases
c.-49_-47del Single submitter developmental and epileptic encephalopathy, 53
c.-55C>G Single submitter developmental and epileptic encephalopathy, 53
c.-56_-55delinsAT Single submitter early-onset Parkinson disease 20
c.-5G>T Single submitter
c.-62G>A Single submitter developmental and epileptic encephalopathy, 53
c.-63G>A Single submitter early-onset Parkinson disease 20
c.-64_-53del Single submitter developmental and epileptic encephalopathy, 53
c.-68G>A Single submitter developmental and epileptic encephalopathy, 53
c.-7_-5del Single submitter developmental and epileptic encephalopathy, 53
c.-75G>A Single submitter early-onset Parkinson disease 20
c.-77C>G Single submitter Inborn genetic diseases
c.-77C>T Single submitter developmental and epileptic encephalopathy, 53
c.-78C>T Single submitter developmental and epileptic encephalopathy, 53
c.-81G>T Single submitter developmental and epileptic encephalopathy, 53
c.-89G>T Single submitter early-onset Parkinson disease 20
c.-90G>A Single submitter
c.*100G>C Single submitter
c.*100G>T Single submitter early-onset Parkinson disease 20
c.*104A>G Single submitter developmental and epileptic encephalopathy, 53
c.*109T>C Single submitter developmental and epileptic encephalopathy, 53
c.*119C>T Single submitter developmental and epileptic encephalopathy, 53
c.*124C>T Single submitter early-onset Parkinson disease 20
c.*127G>C Single submitter developmental and epileptic encephalopathy, 53
c.*134C>A Single submitter developmental and epileptic encephalopathy, 53
c.*142C>T Single submitter Inborn genetic diseases
c.*14A>G Single submitter developmental and epileptic encephalopathy, 53
c.*150G>T Single submitter Inborn genetic diseases
c.*152T>C Single submitter developmental and epileptic encephalopathy, 53
c.*158A>G Single submitter early-onset Parkinson disease 20
c.*163C>T Single submitter early-onset Parkinson disease 20
c.*182A>G Single submitter developmental and epileptic encephalopathy, 53
c.*186_*187insATTACT Single submitter developmental and epileptic encephalopathy, 53
c.*196G>C Single submitter developmental and epileptic encephalopathy, 53
c.*227_*244dup Single submitter early-onset Parkinson disease 20
c.*227C>T Single submitter developmental and epileptic encephalopathy, 53
c.*233G>T Single submitter Inborn genetic diseases
c.*251A>T Single submitter developmental and epileptic encephalopathy, 53
c.*253A>G Single submitter developmental and epileptic encephalopathy, 53
c.*255G>T Single submitter developmental and epileptic encephalopathy, 53
c.*256C>T Single submitter developmental and epileptic encephalopathy, 53
c.*266C>T Single submitter Inborn genetic diseases
c.*276del Single submitter early-onset Parkinson disease 20
c.*277A>G Single submitter developmental and epileptic encephalopathy, 53
c.*283G>A Single submitter developmental and epileptic encephalopathy, 53
c.*284G>C Single submitter developmental and epileptic encephalopathy, 53
c.*295A>G Single submitter developmental and epileptic encephalopathy, 53
c.*305T>C Single submitter Inborn genetic diseases
c.*309T>G Single submitter developmental and epileptic encephalopathy, 53
c.*316del Single submitter early-onset Parkinson disease 20
c.*320C>T Single submitter developmental and epileptic encephalopathy, 53
c.*325C>T Single submitter developmental and epileptic encephalopathy, 53
c.*347A>G Single submitter developmental and epileptic encephalopathy, 53
c.*347A>T Single submitter developmental and epileptic encephalopathy, 53
c.*349T>C Single submitter developmental and epileptic encephalopathy, 53
c.*367A>G Single submitter developmental and epileptic encephalopathy, 53
c.*371C>T Single submitter Inborn genetic diseases
c.*380C>A Single submitter Inborn genetic diseases
c.*388G>A Single submitter developmental and epileptic encephalopathy, 53
c.*38A>C Single submitter Inborn genetic diseases
c.*411C>G Single submitter
c.*412C>G Single submitter early-onset Parkinson disease 20
c.*415T>A Single submitter Inborn genetic diseases
c.*41C>T Single submitter developmental and epileptic encephalopathy, 53
c.*442A>G Single submitter developmental and epileptic encephalopathy, 53
c.*449C>A Single submitter developmental and epileptic encephalopathy, 53
c.*469T>C Single submitter early-onset Parkinson disease 20
c.*482T>C Single submitter developmental and epileptic encephalopathy, 53
c.*485A>T Single submitter early-onset Parkinson disease 20
c.*488T>C Single submitter Inborn genetic diseases
c.*490C>A Single submitter Inborn genetic diseases
c.*491A>C Single submitter developmental and epileptic encephalopathy, 53
c.*491A>G Single submitter Inborn genetic diseases
c.*496C>T Single submitter Inborn genetic diseases
c.*516C>A Single submitter
c.*521C>G Single submitter early-onset Parkinson disease 20
c.*521C>T Single submitter developmental and epileptic encephalopathy, 53
c.*526G>A Single submitter early-onset Parkinson disease 20
c.*530G>A Single submitter developmental and epileptic encephalopathy, 53
c.*536C>T Single submitter developmental and epileptic encephalopathy, 53
c.*546A>T Single submitter Inborn genetic diseases
c.*54T>G Single submitter developmental and epileptic encephalopathy, 53
c.*552G>C Single submitter Inborn genetic diseases
c.*560del Single submitter developmental and epileptic encephalopathy, 53
c.*568G>C Single submitter Inborn genetic diseases
c.*576_*584del Single submitter developmental and epileptic encephalopathy, 53
c.*583G>C Single submitter Inborn genetic diseases
c.*594C>G Single submitter developmental and epileptic encephalopathy, 53
c.*602G>A Single submitter early-onset Parkinson disease 20
c.*602G>T Single submitter developmental and epileptic encephalopathy, 53
c.*604A>C Single submitter developmental and epileptic encephalopathy, 53
c.*605A>G Single submitter Inborn genetic diseases
c.*613A>C Single submitter early-onset Parkinson disease 20
c.*613A>G Single submitter developmental and epileptic encephalopathy, 53
c.*626G>A Single submitter developmental and epileptic encephalopathy, 53
c.*628T>A Single submitter developmental and epileptic encephalopathy, 53
c.*638C>T Single submitter developmental and epileptic encephalopathy, 53
c.*641dup Single submitter early-onset Parkinson disease 20
c.*643A>C Single submitter developmental and epileptic encephalopathy, 53
c.*644A>G Single submitter developmental and epileptic encephalopathy, 53
c.*668A>C Single submitter developmental and epileptic encephalopathy, 53
c.*676T>C Single submitter early-onset Parkinson disease 20
c.*679T>A Single submitter developmental and epileptic encephalopathy, 53
c.*689C>T Single submitter early-onset Parkinson disease 20
c.*701C>A Single submitter Inborn genetic diseases
c.*703C>T Single submitter developmental and epileptic encephalopathy, 53
c.*704C>T Single submitter developmental and epileptic encephalopathy, 53
c.*707C>T Single submitter developmental and epileptic encephalopathy, 53
c.*710C>G Single submitter Inborn genetic diseases
c.*712C>T Single submitter developmental and epileptic encephalopathy, 53
c.*719C>G Single submitter developmental and epileptic encephalopathy, 53
c.*731C>T Single submitter developmental and epileptic encephalopathy, 53
c.*740G>A Single submitter developmental and epileptic encephalopathy, 53