DCC — 322 ClinVar variants
All ClinVar germline DCC variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 197 flagged for review →
36 Pathogenic · 3 Pathogenic/Likely pathogenic · 16 Likely pathogenic · 5 Conflicting · 19 Benign · 4 Benign/Likely benign · 48 Likely benign · 191 Uncertain significance
Full DCC gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 197
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors vs ClinVar 3
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
DCC p.Ala893Thr
Pathogenic
No assertion criteria
corpus callosum, agenesis of
-
DCC p.Met168Thr
Pathogenic
No assertion criteria
Esophageal carcinoma, somatic
-
DCC p.Pro1375His
Pathogenic
No assertion criteria
colon carcinoma
Predictors agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
DCC p.Lys419Arg
Conflicting
Single submitter
gaze palsy, familial horizontal, with progressive scoliosis, 2
Predicted LoF vs a conflicting call 1
ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.
-
DCC p.Arg1149Ter
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 116
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
DCC p.Gly1294Arg
Uncertain significance
Multiple submitters
mirror movements 1 and/or agenesis of the corpus callosum
-
DCC p.Gly803Arg
Uncertain significance
Multiple submitters
mirror movements 1
-
DCC p.Ile1080Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
- DCC p.Ala1225Ser Uncertain significance Single submitter
-
DCC p.Ala151Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Ala554Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Arg1021Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Arg1025Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Arg1056Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Arg1149Leu Uncertain significance Single submitter
-
DCC p.Arg1231Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Arg211Pro Uncertain significance Single submitter
-
DCC p.Arg386Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Arg661Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Arg88Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Arg956Ser Uncertain significance Single submitter
- DCC p.Asn1418Lys Uncertain significance Single submitter
-
DCC p.Asn176Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Asn248Ser Uncertain significance Single submitter
- DCC p.Asn506Lys Uncertain significance Single submitter
- DCC p.Asn533Ser Uncertain significance Single submitter
-
DCC p.Asn555Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Asn56Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Asp1177His Uncertain significance Single submitter
- DCC p.Asp394Asn Uncertain significance Single submitter
- DCC p.Cys352Arg Uncertain significance Single submitter
- DCC p.Cys400Arg Uncertain significance Single submitter
- DCC p.Gln1193His Uncertain significance Single submitter
-
DCC p.Gln1197His
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Gln1260Arg Uncertain significance Single submitter
- DCC p.Gln178Glu Uncertain significance Single submitter
-
DCC p.Gln239Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Gln522Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Gln691Glu Uncertain significance Single submitter
- DCC p.Gln873Lys Uncertain significance Single submitter
-
DCC p.Glu1404Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Glu147Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Glu260Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Glu495Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Glu675Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Gly1061Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Gly1081Glu Uncertain significance Single submitter
-
DCC p.Gly1107Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Gly1139Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Gly1143Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Gly1207Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Gly1271Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.His1410Arg Uncertain significance Single submitter
- DCC p.His237Asn Uncertain significance Single submitter
-
DCC p.His662Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Ile1009Val Uncertain significance Single submitter
- DCC p.Ile1080Phe Uncertain significance Single submitter
-
DCC p.Ile1180Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Ile655Ser Uncertain significance Single submitter
-
DCC p.Ile817Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Ile981Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Leu1012Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Leu17Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Leu325Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Leu340Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Leu492Arg Uncertain significance Single submitter
- DCC p.Leu563Trp Uncertain significance Single submitter
- DCC p.Leu585Gln Uncertain significance Single submitter
-
DCC p.Leu840Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Lys1142Arg Uncertain significance Single submitter
- DCC p.Lys1360Thr Uncertain significance Single submitter
- DCC p.Lys589Ile Uncertain significance Single submitter
-
DCC p.Met1050Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Met497Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Met743Leu
Uncertain significance
Single submitter
mirror movements 1
-
DCC p.Pro1173Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Pro1237Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Pro1311Ser Uncertain significance Single submitter
-
DCC p.Pro1315Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Pro1396Ser Uncertain significance Single submitter
-
DCC p.Pro622Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Pro726Leu Uncertain significance Single submitter
-
DCC p.Pro729Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Pro823Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Ser1137Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Ser124Phe
Uncertain significance
Single submitter
colorectal cancer
-
DCC p.Ser194Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Ser284Phe Uncertain significance Single submitter
-
DCC p.Ser425Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Ser441Phe Uncertain significance Single submitter
-
DCC p.Ser595Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Ser648Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Thr1067Ala Uncertain significance Single submitter
- DCC p.Thr1091Ser Uncertain significance Single submitter
- DCC p.Thr1401Lys Uncertain significance Single submitter
-
DCC p.Thr170Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Thr353Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Thr361Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Thr463Met Uncertain significance Single submitter
-
DCC p.Thr665Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Thr700Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Thr738Ala Uncertain significance Single submitter
-
DCC p.Thr821Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Trp332Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Tyr1018Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Tyr1019Cys Uncertain significance Single submitter
- DCC p.Tyr210Asp Uncertain significance Single submitter
-
DCC p.Tyr553Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Val1104Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Val136Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Val1405Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Val1419Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Val300Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Val754Met
Uncertain significance
Single submitter
autism spectrum disorder
-
DCC p.Val837Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Arg1291Gln
Uncertain significance
No assertion criteria
colorectal cancer
- DCC p.Asp434Gly Uncertain significance No assertion criteria
-
DCC p.Asp819Asn
Uncertain significance
No assertion criteria
amenorrhea
-
DCC p.Gln691Lys
Uncertain significance
No assertion criteria
gaze palsy, familial horizontal, with progressive scoliosis, 2
-
DCC p.Pro1086Leu
Uncertain significance
No assertion criteria
DCC-related disorder
- DCC p.Pro828Ser Uncertain significance No assertion criteria
Predictors split 76
The independent predictors disagree with each other — read with care.
-
DCC p.Arg597Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DCC p.Gln486Leu
Benign
Multiple submitters
Inborn genetic diseases
- DCC p.Gly55Arg Uncertain significance Multiple submitters
-
DCC p.Gly84Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
DCC p.Phe23Leu
Benign
Multiple submitters
gaze palsy, familial horizontal, with progressive scoliosis, 2
-
DCC p.Ala257Thr
Uncertain significance
Single submitter
gaze palsy, familial horizontal, with progressive scoliosis, 2
- DCC p.Ala859Val Uncertain significance Single submitter
-
DCC p.Ala935Val
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Ala973Val Uncertain significance Single submitter
-
DCC p.Arg1124Cys
Likely benign
Single submitter
Inborn genetic diseases
-
DCC p.Arg1133Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Arg386Gln Conflicting Single submitter
- DCC p.Arg501Gln Uncertain significance Single submitter
-
DCC p.Arg785Trp
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Asn384His Likely benign Single submitter
-
DCC p.Asn702Ser
Conflicting
Single submitter
mirror movements 1
-
DCC p.Gln1438Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Gln145Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Gln90His
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Glu474Gln Uncertain significance Single submitter
-
DCC p.Glu957Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Gly265Ser Uncertain significance Single submitter
-
DCC p.Gly382Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Gly470Asp
Conflicting
Single submitter
mirror movements 1
-
DCC p.Gly556Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Gly958Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Ile1116Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Ile280Met Uncertain significance Single submitter
-
DCC p.Ile416Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Ile613Thr Uncertain significance Single submitter
-
DCC p.Ile760Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Ile996Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Leu1198Met
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Leu674Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Leu971Phe Uncertain significance Single submitter
-
DCC p.Lys640Thr
Likely benign
Single submitter
Inborn genetic diseases
- DCC p.Lys659Glu Uncertain significance Single submitter
-
DCC p.Lys75Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Phe1293Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Pro1150Ser Uncertain significance Single submitter
- DCC p.Pro1275Arg Uncertain significance Single submitter
-
DCC p.Pro1275Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Pro1338Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Pro1353Leu Uncertain significance Single submitter
- DCC p.Pro373Ser Uncertain significance Single submitter
- DCC p.Pro423Arg Uncertain significance Single submitter
-
DCC p.Pro516Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Pro625Gln Uncertain significance Single submitter
-
DCC p.Pro706Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Ser1169Cys Uncertain significance Single submitter
- DCC p.Ser1249Asn Likely benign Single submitter
-
DCC p.Ser284Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Ser412Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Ser425Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Ser425Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Ser619Pro Uncertain significance Single submitter
- DCC p.Ser892Arg Uncertain significance Single submitter
-
DCC p.Thr479Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Thr592Ala Likely benign Single submitter
-
DCC p.Thr875Met
Uncertain significance
Single submitter
mirror movements 1
-
DCC p.Tyr583Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Tyr826Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Val1100Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Val249Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- DCC p.Val354Ile Uncertain significance Single submitter
- DCC p.Val362Met Uncertain significance Single submitter
- DCC p.Val503Ala Uncertain significance Single submitter
-
DCC p.Val701Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
DCC p.Ala455Val
Likely benign
No assertion criteria
DCC-related disorder
-
DCC p.Arg773His
Likely benign
No assertion criteria
DCC-related disorder
- DCC p.Arg879Gln Uncertain significance No assertion criteria
-
DCC p.Ile759Met
Benign
No assertion criteria
DCC-related disorder
- DCC p.Pro1359Leu Uncertain significance No assertion criteria
-
DCC p.Thr614Ile
Uncertain significance
No assertion criteria
DCC-related disorder
-
DCC p.Val621Met
Likely benign
No assertion criteria
DCC-related disorder
-
DCC p.Val883Ile
Uncertain significance
No assertion criteria
amenorrhea
All DCC variants
Pathogenic 36
- p.Arg1021Ter Multiple submitters Inborn genetic diseases
- p.Arg275Ter Multiple submitters mirror movements 1
- c.1140+1G>A Single submitter mirror movements 1
- c.1573+2T>G Single submitter mirror movements 1 and/or agenesis of the corpus callosum
- c.1911+1G>C Single submitter
- c.3230-1G>A Single submitter
- p.Ala323fs Single submitter
- p.Ala713fs Single submitter Inborn genetic diseases
- p.Arg1228Ter Single submitter
- p.Arg215Ter Single submitter Inborn genetic diseases
- p.Arg756Ter Single submitter mirror movements 1
- p.Gln1193Ter Single submitter mirror movements 1
- p.Ile760fs Single submitter mirror movements 1
- p.Leu385Ter Single submitter mirror movements 1
- p.Leu786fs Single submitter Inborn genetic diseases
- p.Pro1315fs Single submitter gaze palsy, familial horizontal, with progressive scoliosis, 2
- p.Pro736Ter Single submitter
- p.Pro847fs Single submitter Inborn genetic diseases
- p.Ser897Ter Single submitter mirror movements 1
- p.Ser93Ter Single submitter mirror movements 1
- p.Val263fs Single submitter mirror movements 1
- p.Val489fs Single submitter
- p.Val793fs Single submitter mirror movements 1
- c.31_91+7622del No assertion criteria gaze palsy, familial horizontal, with progressive scoliosis, 2
- p.Ala893Thr No assertion criteria corpus callosum, agenesis of ⚠
- p.Arg597Pro No assertion criteria corpus callosum, agenesis of
- p.Asn316fs No assertion criteria colorectal cancer
- p.Asn925fs No assertion criteria mirror movements 1
- p.Asp233_Leu328del No assertion criteria mirror movements 1
- p.Gly805Glu No assertion criteria mirror movements 1
- p.Leu1279fs No assertion criteria mirror movements 1
- p.Met168Thr No assertion criteria Esophageal carcinoma, somatic ⚠
- p.Pro1375His No assertion criteria colon carcinoma ⚠
- p.Thr309fs No assertion criteria mirror movements 1
- p.Val191fs No assertion criteria mirror movements 1
- p.Val793Gly No assertion criteria mirror movements 1
Pathogenic/Likely pathogenic 3
- p.Arg1025Ter Multiple submitters mirror movements 1
- p.Arg879Ter Multiple submitters mirror movements 1
- p.Thr146fs Multiple submitters
Likely pathogenic 16
- c.2828-1G>A Single submitter DCC-related disorder
- p.Arg501Ter Single submitter DCC-related disorder
- p.Arg597Ter Single submitter
- p.Arg661Ter Single submitter mirror movements 1
- p.Asn678fs Single submitter mirror movements 1
- p.Asp206Val Single submitter autism spectrum disorder
- p.Cys740fs Single submitter mirror movements 1
- p.Gln1260Ter Single submitter mirror movements 1
- p.Gln481Ter Single submitter mirror movements 1
- p.Gln851Ter Single submitter mirror movements 1
- p.Glu512Ter Single submitter DCC-related disorder
- p.Gly556fs Single submitter
- p.Ile1000fs Single submitter
- p.Lys419fs Single submitter mirror movements 1
- p.Met1Thr Single submitter Partial agenesis of the corpus callosum
- p.Tyr768Ter Single submitter mirror movements 1
Conflicting classifications of pathogenicity 5
- p.Arg1149Ter Single submitter Inborn genetic diseases ⚠
- p.Arg386Gln Single submitter ⚠
- p.Asn702Ser Single submitter mirror movements 1 ⚠
- p.Gly470Asp Single submitter mirror movements 1 ⚠
- p.Lys419Arg Single submitter gaze palsy, familial horizontal, with progressive scoliosis, 2 ⚠
Benign 19
- c.2053+13A>G Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis, 2
- c.2455+7G>A Multiple submitters
- c.3130+10A>G Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis, 2
- c.848+13T>G Multiple submitters
- c.91+7G>A Multiple submitters esophageal cancer
- p.Arg201Gly Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis, 2
- p.Asn101= Multiple submitters
- p.Gln486Leu Multiple submitters Inborn genetic diseases ⚠
- p.Glu118= Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis, 2
- p.Gly381= Multiple submitters
- p.Lys315Thr Multiple submitters
- p.Phe23Leu Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis, 2 ⚠
- p.Pro1036= Multiple submitters gaze palsy, familial horizontal, with progressive scoliosis, 2
- p.Thr908= Multiple submitters
- c.2359+12_2359+13del Single submitter
- p.Ala218= Single submitter
- p.Gln460His No assertion criteria DCC-related disorder
- p.His237Tyr No assertion criteria DCC-related disorder
- p.Ile759Met No assertion criteria DCC-related disorder ⚠
Benign/Likely benign 4
- c.2053+9T>C Multiple submitters esophageal cancer
- p.Arg667His Multiple submitters mirror movements 1
- p.Leu720= Multiple submitters colorectal cancer
- p.Val354= Multiple submitters mirror movements 1
Likely benign 48
- c.3130+17A>G Single submitter
- c.3393-3T>C Single submitter Inborn genetic diseases
- c.4255-10C>T Single submitter
- c.4255-187A>G Single submitter
- p.Ala802= Single submitter
- p.Arg1124Cys Single submitter Inborn genetic diseases ⚠
- p.Arg1133= Single submitter
- p.Arg1343His Single submitter Inborn genetic diseases
- p.Asn384His Single submitter ⚠
- p.Asn678Ser Single submitter Inborn genetic diseases
- p.Cys261= Single submitter
- p.Gln1193Arg Single submitter
- p.Glu524= Single submitter
- p.Glu687= Single submitter
- p.Glu877= Single submitter
- p.Gly607= Single submitter
- p.Gly849= Single submitter
- p.Ile183= Single submitter
- p.Ile183Val Single submitter Inborn genetic diseases
- p.Leu236= Single submitter
- p.Leu40= Single submitter
- p.Leu581= Single submitter
- p.Lys640Thr Single submitter Inborn genetic diseases ⚠
- p.Met1235Leu Single submitter
- p.Pro551Ser Single submitter Inborn genetic diseases
- p.Ser1249Asn Single submitter ⚠
- p.Ser148Tyr Single submitter Inborn genetic diseases
- p.Ser426= Single submitter
- p.Thr361= Single submitter
- p.Thr480Ser Single submitter Inborn genetic diseases
- p.Thr592Ala Single submitter ⚠
- p.Val1247= Single submitter
- c.2360-4C>T No assertion criteria DCC-related disorder
- c.3130+8T>A No assertion criteria DCC-related disorder
- c.698-7C>T No assertion criteria DCC-related disorder
- p.Ala455Val No assertion criteria DCC-related disorder ⚠
- p.Arg773His No assertion criteria DCC-related disorder ⚠
- p.Asn3Ser No assertion criteria DCC-related disorder
- p.Glu1433= No assertion criteria DCC-related disorder
- p.Glu770= No assertion criteria DCC-related disorder
- p.Gly1207= No assertion criteria DCC-related disorder
- p.Gly763= No assertion criteria DCC-related disorder
- p.His733= No assertion criteria DCC-related disorder
- p.Ile1180= No assertion criteria DCC-related disorder
- p.Ile128= No assertion criteria DCC-related disorder
- p.Ser1223= No assertion criteria DCC-related disorder
- p.Ser836= No assertion criteria DCC-related disorder
- p.Val621Met No assertion criteria DCC-related disorder ⚠
Uncertain significance 191
- c.3620-2A>G Multiple submitters mirror movements 1 and/or agenesis of the corpus callosum
- p.Arg597Gln Multiple submitters Inborn genetic diseases ⚠
- p.Gly1294Arg Multiple submitters mirror movements 1 and/or agenesis of the corpus callosum ⚠
- p.Gly55Arg Multiple submitters ⚠
- p.Gly803Arg Multiple submitters mirror movements 1 ⚠
- p.Gly84Arg Multiple submitters Inborn genetic diseases ⚠
- p.Ile1080Val Multiple submitters Inborn genetic diseases ⚠
- c.2935+3A>T Single submitter
- c.3392+4G>A Single submitter Inborn genetic diseases
- c.3899-2A>T Single submitter
- c.4254+3A>G Single submitter
- c.698-17G>T Single submitter
- c.986-3C>T Single submitter Inborn genetic diseases
- p.Ala1225Ser Single submitter ⚠
- p.Ala151Gly Single submitter Inborn genetic diseases ⚠
- p.Ala257Thr Single submitter gaze palsy, familial horizontal, with progressive scoliosis, 2 ⚠
- p.Ala554Pro Single submitter Inborn genetic diseases ⚠
- p.Ala859Val Single submitter ⚠
- p.Ala935Val Single submitter Inborn genetic diseases ⚠
- p.Ala973Val Single submitter ⚠
- p.Arg1021Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1025Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1056Ser Single submitter Inborn genetic diseases ⚠
- p.Arg1133Trp Single submitter Inborn genetic diseases ⚠
- p.Arg1149Leu Single submitter ⚠
- p.Arg1231Gly Single submitter Inborn genetic diseases ⚠
- p.Arg211Pro Single submitter ⚠
- p.Arg283= Single submitter
- p.Arg386Gly Single submitter Inborn genetic diseases ⚠
- p.Arg501Gln Single submitter ⚠
- p.Arg661Gly Single submitter Inborn genetic diseases ⚠
- p.Arg773Ser Single submitter mirror movements 1
- p.Arg785Trp Single submitter Inborn genetic diseases ⚠
- p.Arg88Thr Single submitter Inborn genetic diseases ⚠
- p.Arg956Ser Single submitter ⚠
- p.Asn1418Lys Single submitter ⚠
- p.Asn176Asp Single submitter Inborn genetic diseases ⚠
- p.Asn248Ser Single submitter ⚠
- p.Asn506Lys Single submitter ⚠
- p.Asn533Ser Single submitter ⚠
- p.Asn555Asp Single submitter Inborn genetic diseases ⚠
- p.Asn56Ser Single submitter Inborn genetic diseases ⚠
- p.Asp1177His Single submitter ⚠
- p.Asp394Asn Single submitter ⚠
- p.Cys352Arg Single submitter ⚠
- p.Cys400Arg Single submitter ⚠
- p.Gln1193His Single submitter ⚠
- p.Gln1197His Single submitter Inborn genetic diseases ⚠
- p.Gln1260Arg Single submitter ⚠
- p.Gln1438Lys Single submitter Inborn genetic diseases ⚠
- p.Gln145Arg Single submitter Inborn genetic diseases ⚠
- p.Gln178Glu Single submitter ⚠
- p.Gln239Arg Single submitter Inborn genetic diseases ⚠
- p.Gln522Lys Single submitter Inborn genetic diseases ⚠
- p.Gln691Glu Single submitter ⚠
- p.Gln873Lys Single submitter ⚠
- p.Gln90His Single submitter Inborn genetic diseases ⚠
- p.Glu1404Gln Single submitter Inborn genetic diseases ⚠
- p.Glu147Lys Single submitter Inborn genetic diseases ⚠
- p.Glu260Gly Single submitter Inborn genetic diseases ⚠
- p.Glu474Gln Single submitter ⚠
- p.Glu495Lys Single submitter Inborn genetic diseases ⚠
- p.Glu675Gln Single submitter Inborn genetic diseases ⚠
- p.Glu957Lys Single submitter Inborn genetic diseases ⚠
- p.Gly1061Ser Single submitter Inborn genetic diseases ⚠
- p.Gly1081Glu Single submitter ⚠
- p.Gly1107Ala Single submitter Inborn genetic diseases ⚠
- p.Gly1139Ala Single submitter Inborn genetic diseases ⚠
- p.Gly1143Ser Single submitter Inborn genetic diseases ⚠
- p.Gly1207Asp Single submitter Inborn genetic diseases ⚠
- p.Gly1271Arg Single submitter Inborn genetic diseases ⚠
- p.Gly265Ser Single submitter ⚠
- p.Gly382Glu Single submitter Inborn genetic diseases ⚠
- p.Gly556Ser Single submitter Inborn genetic diseases ⚠
- p.Gly958Glu Single submitter Inborn genetic diseases ⚠
- p.His1410Arg Single submitter ⚠
- p.His237Asn Single submitter ⚠
- p.His662Tyr Single submitter Inborn genetic diseases ⚠
- p.Ile1009Val Single submitter ⚠
- p.Ile1080Phe Single submitter ⚠
- p.Ile1116Phe Single submitter Inborn genetic diseases ⚠
- p.Ile1180Asn Single submitter Inborn genetic diseases ⚠
- p.Ile280Met Single submitter ⚠
- p.Ile416Ser Single submitter Inborn genetic diseases ⚠
- p.Ile613Thr Single submitter ⚠
- p.Ile655Ser Single submitter ⚠
- p.Ile742del Single submitter mirror movements 1
- p.Ile760Val Single submitter Inborn genetic diseases ⚠
- p.Ile817Val Single submitter Inborn genetic diseases ⚠
- p.Ile981Phe Single submitter Inborn genetic diseases ⚠
- p.Ile996Val Single submitter Inborn genetic diseases ⚠
- p.Leu1012Phe Single submitter Inborn genetic diseases ⚠
- p.Leu1198Met Single submitter Inborn genetic diseases ⚠
- p.Leu17Val Single submitter Inborn genetic diseases ⚠
- p.Leu325Phe Single submitter Inborn genetic diseases ⚠
- p.Leu340Gln Single submitter Inborn genetic diseases ⚠
- p.Leu439= Single submitter
- p.Leu492Arg Single submitter ⚠
- p.Leu563Trp Single submitter ⚠
- p.Leu585Gln Single submitter ⚠
- p.Leu674Arg Single submitter Inborn genetic diseases ⚠
- p.Leu840Phe Single submitter Inborn genetic diseases ⚠
- p.Leu971Phe Single submitter ⚠
- p.Lys1142Arg Single submitter ⚠
- p.Lys1360Thr Single submitter ⚠
- p.Lys589Ile Single submitter ⚠
- p.Lys659Glu Single submitter ⚠
- p.Lys75Asn Single submitter Inborn genetic diseases ⚠
- p.Met1050Ile Single submitter Inborn genetic diseases ⚠
- p.Met497Thr Single submitter Inborn genetic diseases ⚠
- p.Met743Leu Single submitter mirror movements 1 ⚠
- p.Phe1293Cys Single submitter Inborn genetic diseases ⚠
- p.Pro1150Ser Single submitter ⚠
- p.Pro1173Leu Single submitter Inborn genetic diseases ⚠
- p.Pro1237Thr Single submitter Inborn genetic diseases ⚠
- p.Pro1275Arg Single submitter ⚠
- p.Pro1275Thr Single submitter Inborn genetic diseases ⚠
- p.Pro1311Ser Single submitter ⚠
- p.Pro1315Ala Single submitter Inborn genetic diseases ⚠
- p.Pro1338Thr Single submitter Inborn genetic diseases ⚠
- p.Pro1353Leu Single submitter ⚠
- p.Pro1396Ser Single submitter ⚠
- p.Pro373Ser Single submitter ⚠
- p.Pro423Arg Single submitter ⚠
- p.Pro516Thr Single submitter Inborn genetic diseases ⚠
- p.Pro622Ser Single submitter Inborn genetic diseases ⚠
- p.Pro625Gln Single submitter ⚠
- p.Pro706Gln Single submitter Inborn genetic diseases ⚠
- p.Pro726Leu Single submitter ⚠
- p.Pro729Ala Single submitter Inborn genetic diseases ⚠
- p.Pro823Leu Single submitter Inborn genetic diseases ⚠
- p.Ser1137Gly Single submitter Inborn genetic diseases ⚠
- p.Ser1169Cys Single submitter ⚠
- p.Ser124Phe Single submitter colorectal cancer ⚠
- p.Ser1406fs Single submitter
- p.Ser194Phe Single submitter Inborn genetic diseases ⚠
- p.Ser284Cys Single submitter Inborn genetic diseases ⚠
- p.Ser284Phe Single submitter ⚠
- p.Ser412Gly Single submitter Inborn genetic diseases ⚠
- p.Ser425Cys Single submitter Inborn genetic diseases ⚠
- p.Ser425Phe Single submitter Inborn genetic diseases ⚠
- p.Ser425Pro Single submitter Inborn genetic diseases ⚠
- p.Ser441Phe Single submitter ⚠
- p.Ser595Ile Single submitter Inborn genetic diseases ⚠
- p.Ser619Pro Single submitter ⚠
- p.Ser648Pro Single submitter Inborn genetic diseases ⚠
- p.Ser892Arg Single submitter ⚠
- p.Thr1067Ala Single submitter ⚠
- p.Thr1091Ser Single submitter ⚠
- p.Thr1401Lys Single submitter ⚠
- p.Thr170Ala Single submitter Inborn genetic diseases ⚠
- p.Thr353Ile Single submitter Inborn genetic diseases ⚠
- p.Thr361Ala Single submitter Inborn genetic diseases ⚠
- p.Thr463Met Single submitter ⚠
- p.Thr479Ile Single submitter Inborn genetic diseases ⚠
- p.Thr665Arg Single submitter Inborn genetic diseases ⚠
- p.Thr700Ile Single submitter Inborn genetic diseases ⚠
- p.Thr738Ala Single submitter ⚠
- p.Thr821Ala Single submitter Inborn genetic diseases ⚠
- p.Thr875Met Single submitter mirror movements 1 ⚠
- p.Trp332Arg Single submitter Inborn genetic diseases ⚠
- p.Tyr1018Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr1019Cys Single submitter ⚠
- p.Tyr210Asp Single submitter ⚠
- p.Tyr553Phe Single submitter Inborn genetic diseases ⚠
- p.Tyr583Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr826Cys Single submitter Inborn genetic diseases ⚠
- p.Val1100Ala Single submitter Inborn genetic diseases ⚠
- p.Val1104Ile Single submitter Inborn genetic diseases ⚠
- p.Val136Ala Single submitter Inborn genetic diseases ⚠
- p.Val1405Ala Single submitter Inborn genetic diseases ⚠
- p.Val1419Met Single submitter Inborn genetic diseases ⚠
- p.Val249Leu Single submitter Inborn genetic diseases ⚠
- p.Val300Leu Single submitter Inborn genetic diseases ⚠
- p.Val354Ile Single submitter ⚠
- p.Val362Met Single submitter ⚠
- p.Val503Ala Single submitter ⚠
- p.Val701Gly Single submitter Inborn genetic diseases ⚠
- p.Val754Met Single submitter autism spectrum disorder ⚠
- p.Val837Gly Single submitter Inborn genetic diseases ⚠
- p.Arg1291Gln No assertion criteria colorectal cancer ⚠
- p.Arg879Gln No assertion criteria ⚠
- p.Asp434Gly No assertion criteria ⚠
- p.Asp819Asn No assertion criteria amenorrhea ⚠
- p.Gln691Lys No assertion criteria gaze palsy, familial horizontal, with progressive scoliosis, 2 ⚠
- p.Pro1086Leu No assertion criteria DCC-related disorder ⚠
- p.Pro1351fs No assertion criteria DCC-related disorder
- p.Pro1359Leu No assertion criteria ⚠
- p.Pro828Ser No assertion criteria ⚠
- p.Thr614Ile No assertion criteria DCC-related disorder ⚠
- p.Val883Ile No assertion criteria amenorrhea ⚠