PLXNA3 — 796 ClinVar variants
All ClinVar germline PLXNA3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 399 flagged for review →
7 Conflicting · 29 Benign · 3 Benign/Likely benign · 322 Likely benign · 435 Uncertain significance
Full PLXNA3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 399
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 agree, ClinVar conflicts 5
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 309
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 309
-
PLXNA3 p.Arg1061His
Uncertain significance
Multiple submitters
PLXNA3-related disorder
-
PLXNA3 p.Arg519Leu
Uncertain significance
Multiple submitters
PLXNA3-related disorder
-
PLXNA3 p.Asn1009Thr
Uncertain significance
Multiple submitters
PLXNA3-related disorder
-
PLXNA3 p.His88Tyr
Uncertain significance
Multiple submitters
PLXNA3-related disorder
-
PLXNA3 p.Leu339Val
Uncertain significance
Multiple submitters
PLXNA3-related disorder
- PLXNA3 p.Thr1020Ala Uncertain significance Multiple submitters
- PLXNA3 p.Ala105Val Uncertain significance Single submitter
- PLXNA3 p.Ala1093Val Uncertain significance Single submitter
- PLXNA3 p.Ala1154Thr Uncertain significance Single submitter
- PLXNA3 p.Ala1156Ser Uncertain significance Single submitter
- PLXNA3 p.Ala1225Val Uncertain significance Single submitter
-
PLXNA3 p.Ala1237Val
Uncertain significance
Single submitter
PLXNA3-related disorder
- PLXNA3 p.Ala1249Val Uncertain significance Single submitter
- PLXNA3 p.Ala1371Val Uncertain significance Single submitter
- PLXNA3 p.Ala145Asp Uncertain significance Single submitter
- PLXNA3 p.Ala1491Thr Uncertain significance Single submitter
- PLXNA3 p.Ala1826Val Uncertain significance Single submitter
- PLXNA3 p.Ala193Glu Uncertain significance Single submitter
- PLXNA3 p.Ala193Pro Uncertain significance Single submitter
- PLXNA3 p.Ala193Thr Uncertain significance Single submitter
- PLXNA3 p.Ala221Val Uncertain significance Single submitter
- PLXNA3 p.Ala233Thr Uncertain significance Single submitter
-
PLXNA3 p.Ala312Gly
Uncertain significance
Single submitter
PLXNA3-related disorder
- PLXNA3 p.Ala498Val Uncertain significance Single submitter
- PLXNA3 p.Ala570Val Uncertain significance Single submitter
- PLXNA3 p.Ala578Val Uncertain significance Single submitter
- PLXNA3 p.Ala747Thr Uncertain significance Single submitter
- PLXNA3 p.Arg1027His Uncertain significance Single submitter
-
PLXNA3 p.Arg1055Gln
Uncertain significance
Single submitter
PLXNA3-related disorder
- PLXNA3 p.Arg1088Trp Uncertain significance Single submitter
-
PLXNA3 p.Arg108Cys
Uncertain significance
Single submitter
hypogonadotropic hypogonadism
- PLXNA3 p.Arg1191Gln Uncertain significance Single submitter
- PLXNA3 p.Arg1214Gln Uncertain significance Single submitter
- PLXNA3 p.Arg1255Leu Uncertain significance Single submitter
- PLXNA3 p.Arg1266His Uncertain significance Single submitter
-
PLXNA3 p.Arg1359Cys
Uncertain significance
Single submitter
hypogonadotropic hypogonadism
- PLXNA3 p.Arg137Cys Uncertain significance Single submitter
- PLXNA3 p.Arg137Leu Uncertain significance Single submitter
- PLXNA3 p.Arg1470Cys Uncertain significance Single submitter
- PLXNA3 p.Arg1593His Uncertain significance Single submitter
- PLXNA3 p.Arg1597Cys Uncertain significance Single submitter
- PLXNA3 p.Arg1603His Uncertain significance Single submitter
- PLXNA3 p.Arg24Cys Uncertain significance Single submitter
- PLXNA3 p.Arg328Gln Uncertain significance Single submitter
- PLXNA3 p.Arg328Trp Uncertain significance Single submitter
- PLXNA3 p.Arg333Trp Uncertain significance Single submitter
- PLXNA3 p.Arg40Gln Uncertain significance Single submitter
- PLXNA3 p.Arg464Gln Uncertain significance Single submitter
- PLXNA3 p.Arg519Cys Uncertain significance Single submitter
- PLXNA3 p.Arg519His Uncertain significance Single submitter
- PLXNA3 p.Arg543Trp Uncertain significance Single submitter
- PLXNA3 p.Arg545Gln Uncertain significance Single submitter
- PLXNA3 p.Arg613His Uncertain significance Single submitter
- PLXNA3 p.Arg666Cys Uncertain significance Single submitter
- PLXNA3 p.Arg728Gln Uncertain significance Single submitter
- PLXNA3 p.Arg76Cys Uncertain significance Single submitter
- PLXNA3 p.Arg76His Uncertain significance Single submitter
- PLXNA3 p.Arg817Gln Uncertain significance Single submitter
- PLXNA3 p.Arg857Gln Uncertain significance Single submitter
- PLXNA3 p.Arg875Gln Uncertain significance Single submitter
- PLXNA3 p.Arg875Leu Uncertain significance Single submitter
- PLXNA3 p.Arg952Gln Uncertain significance Single submitter
- PLXNA3 p.Arg952Trp Uncertain significance Single submitter
- PLXNA3 p.Asn1325Thr Uncertain significance Single submitter
- PLXNA3 p.Asn1487Asp Uncertain significance Single submitter
- PLXNA3 p.Asn1499Asp Uncertain significance Single submitter
- PLXNA3 p.Asn1783Ser Uncertain significance Single submitter
-
PLXNA3 p.Asn564Ser
Uncertain significance
Single submitter
autism
- PLXNA3 p.Asp1290Glu Uncertain significance Single submitter
- PLXNA3 p.Asp1360Asn Uncertain significance Single submitter
- PLXNA3 p.Asp1474Asn Uncertain significance Single submitter
- PLXNA3 p.Asp172Asn Uncertain significance Single submitter
- PLXNA3 p.Asp1870Glu Uncertain significance Single submitter
- PLXNA3 p.Asp443Asn Uncertain significance Single submitter
- PLXNA3 p.Asp505Tyr Uncertain significance Single submitter
- PLXNA3 p.Asp921Asn Uncertain significance Single submitter
- PLXNA3 p.Cys1441Arg Uncertain significance Single submitter
- PLXNA3 p.Cys647Ser Uncertain significance Single submitter
- PLXNA3 p.Gln246Glu Uncertain significance Single submitter
- PLXNA3 p.Gln306Glu Uncertain significance Single submitter
- PLXNA3 p.Gln381His Uncertain significance Single submitter
- PLXNA3 p.Gln541His Uncertain significance Single submitter
- PLXNA3 p.Gln700Arg Uncertain significance Single submitter
- PLXNA3 p.Gln928His Uncertain significance Single submitter
- PLXNA3 p.Glu1291Gln Uncertain significance Single submitter
- PLXNA3 p.Glu1642Asp Uncertain significance Single submitter
- PLXNA3 p.Glu176Asp Uncertain significance Single submitter
- PLXNA3 p.Glu314Ala Uncertain significance Single submitter
- PLXNA3 p.Glu360Asp Uncertain significance Single submitter
- PLXNA3 p.Glu372Gln Uncertain significance Single submitter
- PLXNA3 p.Glu402Lys Uncertain significance Single submitter
- PLXNA3 p.Glu520Asp Uncertain significance Single submitter
- PLXNA3 p.Glu520Lys Uncertain significance Single submitter
- PLXNA3 p.Glu685Lys Uncertain significance Single submitter
-
PLXNA3 p.Glu72Lys
Uncertain significance
Single submitter
autism
- PLXNA3 p.Glu974Lys Uncertain significance Single submitter
- PLXNA3 p.Gly1083Ser Uncertain significance Single submitter
- PLXNA3 p.Gly1157Ser Uncertain significance Single submitter
- PLXNA3 p.Gly1227Glu Uncertain significance Single submitter
- PLXNA3 p.Gly1570Ser Uncertain significance Single submitter
- PLXNA3 p.Gly15Arg Uncertain significance Single submitter
- PLXNA3 p.Gly19Ser Uncertain significance Single submitter
- PLXNA3 p.Gly229Ser Uncertain significance Single submitter
- PLXNA3 p.Gly286Ser Uncertain significance Single submitter
- PLXNA3 p.Gly682Ser Uncertain significance Single submitter
- PLXNA3 p.Gly753Asp Uncertain significance Single submitter
- PLXNA3 p.Gly873Asp Uncertain significance Single submitter
- PLXNA3 p.His1097Asn Uncertain significance Single submitter
- PLXNA3 p.His1338Leu Uncertain significance Single submitter
- PLXNA3 p.His1637Arg Uncertain significance Single submitter
- PLXNA3 p.His348Arg Uncertain significance Single submitter
- PLXNA3 p.His425Arg Uncertain significance Single submitter
- PLXNA3 p.His530Tyr Uncertain significance Single submitter
-
PLXNA3 p.His668Asp
Uncertain significance
Single submitter
neurodevelopmental disorder
- PLXNA3 p.His756Gln Uncertain significance Single submitter
- PLXNA3 p.Ile1016Met Uncertain significance Single submitter
- PLXNA3 p.Ile102Val Uncertain significance Single submitter
- PLXNA3 p.Ile119Met Uncertain significance Single submitter
- PLXNA3 p.Ile1210Phe Uncertain significance Single submitter
- PLXNA3 p.Ile1235Val Uncertain significance Single submitter
- PLXNA3 p.Ile1503Val Uncertain significance Single submitter
-
PLXNA3 p.Ile1541Val
Uncertain significance
Single submitter
PLXNA3-related disorder
- PLXNA3 p.Ile1552Met Uncertain significance Single submitter
- PLXNA3 p.Ile1690Val Uncertain significance Single submitter
- PLXNA3 p.Ile209Met Uncertain significance Single submitter
- PLXNA3 p.Ile353Val Uncertain significance Single submitter
- PLXNA3 p.Ile475Val Uncertain significance Single submitter
- PLXNA3 p.Ile988Val Uncertain significance Single submitter
-
PLXNA3 p.Leu1086Val
Uncertain significance
Single submitter
hypogonadotropic hypogonadism
- PLXNA3 p.Leu218Ser Uncertain significance Single submitter
- PLXNA3 p.Leu239Val Uncertain significance Single submitter
- PLXNA3 p.Leu243Val Uncertain significance Single submitter
- PLXNA3 p.Leu303Pro Uncertain significance Single submitter
- PLXNA3 p.Leu342Val Uncertain significance Single submitter
- PLXNA3 p.Leu586Pro Uncertain significance Single submitter
- PLXNA3 p.Leu63Val Uncertain significance Single submitter
- PLXNA3 p.Leu704Val Uncertain significance Single submitter
- PLXNA3 p.Leu8Val Uncertain significance Single submitter
- PLXNA3 p.Leu90Gln Uncertain significance Single submitter
- PLXNA3 p.Leu90Val Uncertain significance Single submitter
- PLXNA3 p.Leu99Val Uncertain significance Single submitter
- PLXNA3 p.Lys1139Gln Uncertain significance Single submitter
- PLXNA3 p.Lys1740Glu Uncertain significance Single submitter
-
PLXNA3 p.Met1585Thr
Uncertain significance
Single submitter
PLXNA3-related disorder
- PLXNA3 p.Met265Val Uncertain significance Single submitter
- PLXNA3 p.Met645Thr Uncertain significance Single submitter
- PLXNA3 p.Phe178Val Uncertain significance Single submitter
- PLXNA3 p.Pro1485Leu Uncertain significance Single submitter
- PLXNA3 p.Pro1732Ser Uncertain significance Single submitter
- PLXNA3 p.Pro300Ala Uncertain significance Single submitter
Predictors split 85
The independent predictors disagree with each other — read with care.
- PLXNA3 p.Ala419Thr Benign Multiple submitters
-
PLXNA3 p.Asp981Ala
Uncertain significance
Multiple submitters
PLXNA3-related disorder
-
PLXNA3 p.Leu761Pro
Uncertain significance
Multiple submitters
PLXNA3-related disorder
-
PLXNA3 p.Ser175Leu
Uncertain significance
Multiple submitters
PLXNA3-related disorder
- PLXNA3 p.Ala526Thr Uncertain significance Single submitter
- PLXNA3 p.Arg1191Trp Uncertain significance Single submitter
- PLXNA3 p.Arg124His Uncertain significance Single submitter
- PLXNA3 p.Arg1305His Uncertain significance Single submitter
- PLXNA3 p.Arg1534Leu Uncertain significance Single submitter
- PLXNA3 p.Arg1790Ser Uncertain significance Single submitter
- PLXNA3 p.Arg1838Cys Uncertain significance Single submitter
- PLXNA3 p.Arg1857Gln Uncertain significance Single submitter
- PLXNA3 p.Arg285Cys Uncertain significance Single submitter
- PLXNA3 p.Arg290Cys Uncertain significance Single submitter
- PLXNA3 p.Arg350Trp Uncertain significance Single submitter
- PLXNA3 p.Asn548His Uncertain significance Single submitter
- PLXNA3 p.Asp1006Gly Uncertain significance Single submitter
- PLXNA3 p.Asp1298Ala Uncertain significance Single submitter
- PLXNA3 p.Asp409Asn Uncertain significance Single submitter
- PLXNA3 p.Asp94Glu Uncertain significance Single submitter
- PLXNA3 p.Gln325Pro Conflicting Single submitter
-
PLXNA3 p.Glu1553Lys
Uncertain significance
Single submitter
PLXNA3-related disorder
- PLXNA3 p.Gly229Cys Uncertain significance Single submitter
- PLXNA3 p.Gly590Ser Uncertain significance Single submitter
- PLXNA3 p.Leu1307Phe Uncertain significance Single submitter
- PLXNA3 p.Leu1332Phe Uncertain significance Single submitter
-
PLXNA3 p.Leu365Val
Uncertain significance
Single submitter
autism spectrum disorder
- PLXNA3 p.Leu478Pro Uncertain significance Single submitter
- PLXNA3 p.Lys1551Glu Uncertain significance Single submitter
- PLXNA3 p.Lys174Asn Uncertain significance Single submitter
- PLXNA3 p.Phe1085Leu Uncertain significance Single submitter
- PLXNA3 p.Phe1422Leu Uncertain significance Single submitter
- PLXNA3 p.Phe1673Leu Uncertain significance Single submitter
- PLXNA3 p.Phe278Leu Uncertain significance Single submitter
- PLXNA3 p.Pro1153His Uncertain significance Single submitter
- PLXNA3 p.Pro374Leu Uncertain significance Single submitter
- PLXNA3 p.Pro487Leu Uncertain significance Single submitter
- PLXNA3 p.Pro80Ala Uncertain significance Single submitter
- PLXNA3 p.Pro885Leu Uncertain significance Single submitter
-
PLXNA3 p.Pro908Leu
Uncertain significance
Single submitter
PLXNA3-related disorder
- PLXNA3 p.Ser1011Phe Uncertain significance Single submitter
- PLXNA3 p.Ser283Phe Uncertain significance Single submitter
- PLXNA3 p.Ser283Pro Uncertain significance Single submitter
- PLXNA3 p.Ser671Phe Uncertain significance Single submitter
- PLXNA3 p.Thr1075Ala Uncertain significance Single submitter
- PLXNA3 p.Thr1408Ala Uncertain significance Single submitter
- PLXNA3 p.Thr1592Ile Uncertain significance Single submitter
- PLXNA3 p.Thr1675Ile Uncertain significance Single submitter
- PLXNA3 p.Thr664Ala Uncertain significance Single submitter
- PLXNA3 p.Val1108Ala Uncertain significance Single submitter
- PLXNA3 p.Val1735Met Uncertain significance Single submitter
-
PLXNA3 p.Val276Ala
Uncertain significance
Single submitter
PLXNA3-related disorder
- PLXNA3 p.Val276Met Uncertain significance Single submitter
- PLXNA3 p.Val560Ile Uncertain significance Single submitter
-
PLXNA3 p.Val696Ala
Uncertain significance
Single submitter
PLXNA3-related disorder
-
PLXNA3 p.Ala57Val
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Arg107Cys
Likely benign
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Arg1300Trp
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Arg1540Cys
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Arg1593Cys
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Arg1765Leu
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Arg352Leu
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Arg441Gln
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Arg923Cys
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Arg944Cys
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Glu1392Lys
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Glu1458Lys
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Glu577Lys
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Glu760Lys
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Glu887Lys
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Gly1014Trp
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.His35Gln
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Lys1328Asn
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Lys1627Thr
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Lys438Asn
Likely benign
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Phe468Leu
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Pro1140Leu
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Pro405Leu
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Ser192Ile
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Ser232Arg
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Ser621Phe
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Thr1252Ile
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Trp1204Cys
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Tyr141His
Uncertain significance
No assertion criteria
PLXNA3-related disorder
-
PLXNA3 p.Val933Met
Uncertain significance
No assertion criteria
PLXNA3-related disorder
All PLXNA3 variants
Conflicting classifications of pathogenicity 7
- p.Arg124Cys Single submitter ⚠
- p.Gln325Pro Single submitter ⚠
- p.Glu863Asp Single submitter hypogonadotropic hypogonadism
- p.Gly19Asp Single submitter ⚠
- p.Pro58Ser Single submitter ⚠
- p.Ser1173Leu Single submitter ⚠
- p.Val1343Met Single submitter ⚠
Benign 29
- p.Ala419Thr Multiple submitters ⚠
- p.Arg350Gln Multiple submitters
- p.Arg433His Multiple submitters
- p.Arg543Gln Multiple submitters
- p.Asn1073= Multiple submitters
- p.Gly384Ser Multiple submitters
- p.Ile262= Multiple submitters
- p.Pro311= Multiple submitters
- p.Pro653Leu Multiple submitters
- p.Thr248= Multiple submitters
- p.Val1135= Multiple submitters
- p.Val4= Multiple submitters
- c.2044-4G>A Single submitter
- c.2342-8G>A Single submitter
- p.Ala1154= Single submitter
- p.Ala1241= Single submitter
- p.Arg107His Single submitter
- p.Arg24His Single submitter
- p.Arg616Gln Single submitter childhood-onset schizophrenia
- p.Arg89His Single submitter
- p.Gly1334Glu Single submitter
- p.Gly504Arg Single submitter
- p.Phe763= Single submitter
- p.Pro823= Single submitter
- p.Thr432= Single submitter
- p.Tyr275= Single submitter
- p.Pro1013= No assertion criteria PLXNA3-related disorder
- p.Thr843= No assertion criteria PLXNA3-related disorder
- p.Thr967= No assertion criteria PLXNA3-related disorder
Benign/Likely benign 3
- p.Ala579= Multiple submitters
- p.Pro1171= Multiple submitters
- p.Ser294= Multiple submitters
Likely benign 322
Showing the top 300 by review status; the full set is in the sitemap.
- p.Phe46= Multiple submitters
- c.1317+60TGG[3] Single submitter
- c.1446+26G>C Single submitter
- c.2043+8G>A Single submitter
- c.2245-7C>T Single submitter
- c.2937-5T>C Single submitter
- c.3441+5G>A Single submitter
- c.4987-4A>G Single submitter
- p.Ala1701= Single submitter
- p.Ala1826= Single submitter
- p.Ala253= Single submitter
- p.Ala498Thr Single submitter
- p.Ala575Thr Single submitter
- p.Ala579Val Single submitter
- p.Ala580= Single submitter
- p.Ala734= Single submitter
- p.Arg1088Gln Single submitter
- p.Arg1191= Single submitter
- p.Arg285= Single submitter
- p.Arg423His Single submitter
- p.Arg473Gln Single submitter
- p.Arg603Gln Single submitter
- p.Arg841His Single submitter
- p.Asn547Asp Single submitter
- p.Asp1137= Single submitter
- p.Asp149= Single submitter
- p.Asp172= Single submitter
- p.Asp315= Single submitter
- p.Asp632= Single submitter
- p.Glu1430= Single submitter
- p.Gly1767= Single submitter
- p.Gly281Ser Single submitter
- p.Gly413Ser Single submitter
- p.Gly48= Single submitter
- p.Gly504= Single submitter
- p.His66Tyr Single submitter
- p.Leu1866= Single submitter
- p.Leu687= Single submitter
- p.Leu816= Single submitter
- p.Leu991Val Single submitter
- p.Phe1103= Single submitter
- p.Phe532= Single submitter
- p.Pro1153= Single submitter
- p.Pro134= Single submitter
- p.Thr1363= Single submitter
- p.Thr924= Single submitter
- p.Val1326Met Single submitter
- p.Val171= Single submitter
- p.Val316Ile Single submitter
- p.Val428= Single submitter
- p.Val626= Single submitter
- p.Val849Met Single submitter
- c.1135-4C>T No assertion criteria PLXNA3-related disorder
- c.1447-4C>T No assertion criteria PLXNA3-related disorder
- c.1447-8G>T No assertion criteria PLXNA3-related disorder
- c.1547+9G>A No assertion criteria PLXNA3-related disorder
- c.1548-6G>A No assertion criteria PLXNA3-related disorder
- c.1548-6G>T No assertion criteria PLXNA3-related disorder
- c.1548-7C>T No assertion criteria PLXNA3-related disorder
- c.1828+9G>A No assertion criteria PLXNA3-related disorder
- c.1929-3dup No assertion criteria PLXNA3-related disorder
- c.1929-7C>T No assertion criteria PLXNA3-related disorder
- c.2044-8C>T No assertion criteria PLXNA3-related disorder
- c.2244+9C>T No assertion criteria PLXNA3-related disorder
- c.2342-10G>C No assertion criteria PLXNA3-related disorder
- c.2678+8C>T No assertion criteria PLXNA3-related disorder
- c.2678+9G>A No assertion criteria PLXNA3-related disorder
- c.2800-4G>A No assertion criteria PLXNA3-related disorder
- c.2800-5C>T No assertion criteria PLXNA3-related disorder
- c.2936+10G>A No assertion criteria PLXNA3-related disorder
- c.2936+7C>T No assertion criteria PLXNA3-related disorder
- c.2937-4G>A No assertion criteria PLXNA3-related disorder
- c.3585+9G>C No assertion criteria PLXNA3-related disorder
- c.3821-5C>G No assertion criteria PLXNA3-related disorder
- c.3821-8C>T No assertion criteria PLXNA3-related disorder
- c.3963+6C>T No assertion criteria PLXNA3-related disorder
- c.3964-5del No assertion criteria PLXNA3-related disorder
- c.3964-7C>T No assertion criteria PLXNA3-related disorder
- c.4287+10G>A No assertion criteria PLXNA3-related disorder
- c.4287+4C>T No assertion criteria PLXNA3-related disorder
- c.4288-10C>T No assertion criteria PLXNA3-related disorder
- c.4435-5C>G No assertion criteria PLXNA3-related disorder
- c.4795+10C>T No assertion criteria PLXNA3-related disorder
- c.4795+7G>T No assertion criteria PLXNA3-related disorder
- c.4796-8T>C No assertion criteria PLXNA3-related disorder
- c.5157-8G>A No assertion criteria PLXNA3-related disorder
- c.5370-10G>T No assertion criteria PLXNA3-related disorder
- c.5520+3G>A No assertion criteria PLXNA3-related disorder
- c.5521-3C>T No assertion criteria PLXNA3-related disorder
- c.5521-7C>T No assertion criteria PLXNA3-related disorder
- c.-4G>A No assertion criteria PLXNA3-related disorder
- c.-5C>T No assertion criteria PLXNA3-related disorder
- c.-7G>A No assertion criteria PLXNA3-related disorder
- p.Ala105= No assertion criteria PLXNA3-related disorder
- p.Ala1093= No assertion criteria PLXNA3-related disorder
- p.Ala1156= No assertion criteria PLXNA3-related disorder
- p.Ala1225= No assertion criteria PLXNA3-related disorder
- p.Ala1226= No assertion criteria PLXNA3-related disorder
- p.Ala1237= No assertion criteria PLXNA3-related disorder
- p.Ala13= No assertion criteria PLXNA3-related disorder
- p.Ala1303= No assertion criteria PLXNA3-related disorder
- p.Ala1341= No assertion criteria PLXNA3-related disorder
- p.Ala145= No assertion criteria PLXNA3-related disorder
- p.Ala1454= No assertion criteria PLXNA3-related disorder
- p.Ala1563Thr No assertion criteria PLXNA3-related disorder
- p.Ala1574= No assertion criteria PLXNA3-related disorder
- p.Ala193= No assertion criteria PLXNA3-related disorder
- p.Ala193Val No assertion criteria PLXNA3-related disorder
- p.Ala221= No assertion criteria PLXNA3-related disorder
- p.Ala253Val No assertion criteria PLXNA3-related disorder
- p.Ala267= No assertion criteria PLXNA3-related disorder
- p.Ala267Thr No assertion criteria PLXNA3-related disorder
- p.Ala305= No assertion criteria PLXNA3-related disorder
- p.Ala418= No assertion criteria PLXNA3-related disorder
- p.Ala578= No assertion criteria PLXNA3-related disorder
- p.Ala584= No assertion criteria PLXNA3-related disorder
- p.Ala629= No assertion criteria PLXNA3-related disorder
- p.Ala788= No assertion criteria PLXNA3-related disorder
- p.Ala91Val No assertion criteria PLXNA3-related disorder
- p.Ala920= No assertion criteria PLXNA3-related disorder
- p.Arg1061= No assertion criteria PLXNA3-related disorder
- p.Arg107Cys No assertion criteria PLXNA3-related disorder ⚠
- p.Arg1092= No assertion criteria PLXNA3-related disorder
- p.Arg1160His No assertion criteria PLXNA3-related disorder
- p.Arg1305= No assertion criteria PLXNA3-related disorder
- p.Arg1340= No assertion criteria PLXNA3-related disorder
- p.Arg1359= No assertion criteria PLXNA3-related disorder
- p.Arg1361= No assertion criteria PLXNA3-related disorder
- p.Arg1375= No assertion criteria PLXNA3-related disorder
- p.Arg1460= No assertion criteria PLXNA3-related disorder
- p.Arg1815= No assertion criteria PLXNA3-related disorder
- p.Arg184= No assertion criteria PLXNA3-related disorder
- p.Arg290His No assertion criteria PLXNA3-related disorder
- p.Arg333Gln No assertion criteria PLXNA3-related disorder
- p.Arg352= No assertion criteria PLXNA3-related disorder
- p.Arg64Trp No assertion criteria PLXNA3-related disorder
- p.Arg724Gln No assertion criteria PLXNA3-related disorder
- p.Arg89= No assertion criteria PLXNA3-related disorder
- p.Arg952= No assertion criteria PLXNA3-related disorder
- p.Asn1009= No assertion criteria PLXNA3-related disorder
- p.Asn1325= No assertion criteria PLXNA3-related disorder
- p.Asn1499= No assertion criteria PLXNA3-related disorder
- p.Asn564= No assertion criteria PLXNA3-related disorder
- p.Asn582= No assertion criteria PLXNA3-related disorder
- p.Asn74= No assertion criteria PLXNA3-related disorder
- p.Asn746= No assertion criteria PLXNA3-related disorder
- p.Asn864= No assertion criteria PLXNA3-related disorder
- p.Asn882= No assertion criteria PLXNA3-related disorder
- p.Asp1006= No assertion criteria PLXNA3-related disorder
- p.Asp1569= No assertion criteria PLXNA3-related disorder
- p.Asp412Asn No assertion criteria PLXNA3-related disorder
- p.Cys112= No assertion criteria PLXNA3-related disorder
- p.Cys1183= No assertion criteria PLXNA3-related disorder
- p.Cys266= No assertion criteria PLXNA3-related disorder
- p.Cys497= No assertion criteria PLXNA3-related disorder
- p.Cys500= No assertion criteria PLXNA3-related disorder
- p.Gln1566= No assertion criteria PLXNA3-related disorder
- p.Gln925= No assertion criteria PLXNA3-related disorder
- p.Glu1699= No assertion criteria PLXNA3-related disorder
- p.Glu1812= No assertion criteria PLXNA3-related disorder
- p.Gly1045= No assertion criteria PLXNA3-related disorder
- p.Gly1134= No assertion criteria PLXNA3-related disorder
- p.Gly1227= No assertion criteria PLXNA3-related disorder
- p.Gly1362= No assertion criteria PLXNA3-related disorder
- p.Gly1450= No assertion criteria PLXNA3-related disorder
- p.Gly15= No assertion criteria PLXNA3-related disorder
- p.Gly153= No assertion criteria PLXNA3-related disorder
- p.Gly16= No assertion criteria PLXNA3-related disorder
- p.Gly1663= No assertion criteria PLXNA3-related disorder
- p.Gly286= No assertion criteria PLXNA3-related disorder
- p.Gly309= No assertion criteria PLXNA3-related disorder
- p.Gly403= No assertion criteria PLXNA3-related disorder
- p.Gly525= No assertion criteria PLXNA3-related disorder
- p.Gly715= No assertion criteria PLXNA3-related disorder
- p.Gly727= No assertion criteria PLXNA3-related disorder
- p.Gly866= No assertion criteria PLXNA3-related disorder
- p.Gly878= No assertion criteria PLXNA3-related disorder
- p.His1107= No assertion criteria PLXNA3-related disorder
- p.His1635= No assertion criteria PLXNA3-related disorder
- p.His1817= No assertion criteria PLXNA3-related disorder
- p.His530= No assertion criteria PLXNA3-related disorder
- p.Ile1072= No assertion criteria PLXNA3-related disorder
- p.Ile1391= No assertion criteria PLXNA3-related disorder
- p.Ile1552= No assertion criteria PLXNA3-related disorder
- p.Ile209= No assertion criteria PLXNA3-related disorder
- p.Ile280= No assertion criteria PLXNA3-related disorder
- p.Ile320Val No assertion criteria PLXNA3-related disorder
- p.Ile401= No assertion criteria PLXNA3-related disorder
- p.Ile860= No assertion criteria PLXNA3-related disorder
- p.Ile894= No assertion criteria PLXNA3-related disorder
- p.Leu100= No assertion criteria PLXNA3-related disorder
- p.Leu1078= No assertion criteria PLXNA3-related disorder
- p.Leu1231= No assertion criteria PLXNA3-related disorder
- p.Leu1269= No assertion criteria PLXNA3-related disorder
- p.Leu128= No assertion criteria PLXNA3-related disorder
- p.Leu131= No assertion criteria PLXNA3-related disorder
- p.Leu1395= No assertion criteria PLXNA3-related disorder
- p.Leu1511= No assertion criteria PLXNA3-related disorder
- p.Leu1559= No assertion criteria PLXNA3-related disorder
- p.Leu1575= No assertion criteria PLXNA3-related disorder
- p.Leu1601= No assertion criteria PLXNA3-related disorder
- p.Leu1631= No assertion criteria PLXNA3-related disorder
- p.Leu1672= No assertion criteria PLXNA3-related disorder
- p.Leu198= No assertion criteria PLXNA3-related disorder
- p.Leu243= No assertion criteria PLXNA3-related disorder
- p.Leu297= No assertion criteria PLXNA3-related disorder
- p.Leu368= No assertion criteria PLXNA3-related disorder
- p.Leu389= No assertion criteria PLXNA3-related disorder
- p.Leu6= No assertion criteria PLXNA3-related disorder
- p.Leu783= No assertion criteria PLXNA3-related disorder
- p.Leu848= No assertion criteria PLXNA3-related disorder
- p.Leu874= No assertion criteria PLXNA3-related disorder
- p.Leu90= No assertion criteria PLXNA3-related disorder
- p.Lys1496= No assertion criteria PLXNA3-related disorder
- p.Lys1662= No assertion criteria PLXNA3-related disorder
- p.Lys1730= No assertion criteria PLXNA3-related disorder
- p.Lys1779= No assertion criteria PLXNA3-related disorder
- p.Lys1855= No assertion criteria PLXNA3-related disorder
- p.Lys438Asn No assertion criteria PLXNA3-related disorder ⚠
- p.Lys481= No assertion criteria PLXNA3-related disorder
- p.Phe1333= No assertion criteria PLXNA3-related disorder
- p.Phe1734= No assertion criteria PLXNA3-related disorder
- p.Phe1736= No assertion criteria PLXNA3-related disorder
- p.Phe230= No assertion criteria PLXNA3-related disorder
- p.Phe235= No assertion criteria PLXNA3-related disorder
- p.Phe238= No assertion criteria PLXNA3-related disorder
- p.Phe26= No assertion criteria PLXNA3-related disorder
- p.Phe321= No assertion criteria PLXNA3-related disorder
- p.Phe340= No assertion criteria PLXNA3-related disorder
- p.Phe576= No assertion criteria PLXNA3-related disorder
- p.Pro1000Leu No assertion criteria PLXNA3-related disorder
- p.Pro1082= No assertion criteria PLXNA3-related disorder
- p.Pro1140= No assertion criteria PLXNA3-related disorder
- p.Pro1309= No assertion criteria PLXNA3-related disorder
- p.Pro148= No assertion criteria PLXNA3-related disorder
- p.Pro1519= No assertion criteria PLXNA3-related disorder
- p.Pro1687= No assertion criteria PLXNA3-related disorder
- p.Pro366= No assertion criteria PLXNA3-related disorder
- p.Pro405= No assertion criteria PLXNA3-related disorder
- p.Pro487= No assertion criteria PLXNA3-related disorder
- p.Pro506= No assertion criteria PLXNA3-related disorder
- p.Pro554= No assertion criteria PLXNA3-related disorder
- p.Pro597= No assertion criteria PLXNA3-related disorder
- p.Pro695= No assertion criteria PLXNA3-related disorder
- p.Pro70= No assertion criteria PLXNA3-related disorder
- p.Pro777= No assertion criteria PLXNA3-related disorder
- p.Pro79= No assertion criteria PLXNA3-related disorder
- p.Pro907= No assertion criteria PLXNA3-related disorder
- p.Pro907Leu No assertion criteria PLXNA3-related disorder
- p.Pro908= No assertion criteria PLXNA3-related disorder
- p.Pro910= No assertion criteria PLXNA3-related disorder
- p.Pro92= No assertion criteria PLXNA3-related disorder
- p.Ser1177= No assertion criteria PLXNA3-related disorder
- p.Ser1211= No assertion criteria PLXNA3-related disorder
- p.Ser1490= No assertion criteria PLXNA3-related disorder
- p.Ser1651= No assertion criteria PLXNA3-related disorder
- p.Ser1707= No assertion criteria PLXNA3-related disorder
- p.Ser1802= No assertion criteria PLXNA3-related disorder
- p.Ser1819= No assertion criteria PLXNA3-related disorder
- p.Ser183= No assertion criteria PLXNA3-related disorder
- p.Ser1869= No assertion criteria PLXNA3-related disorder
- p.Ser192= No assertion criteria PLXNA3-related disorder
- p.Ser217= No assertion criteria PLXNA3-related disorder
- p.Ser232= No assertion criteria PLXNA3-related disorder
- p.Ser234= No assertion criteria PLXNA3-related disorder
- p.Ser260= No assertion criteria PLXNA3-related disorder
- p.Ser283= No assertion criteria PLXNA3-related disorder
- p.Ser343= No assertion criteria PLXNA3-related disorder
- p.Ser355= No assertion criteria PLXNA3-related disorder
- p.Ser416= No assertion criteria PLXNA3-related disorder
- p.Ser434= No assertion criteria PLXNA3-related disorder
- p.Ser503= No assertion criteria PLXNA3-related disorder
- p.Ser589= No assertion criteria PLXNA3-related disorder
- p.Ser714= No assertion criteria PLXNA3-related disorder
- p.Ser739= No assertion criteria PLXNA3-related disorder
- p.Ser764= No assertion criteria PLXNA3-related disorder
- p.Ser926= No assertion criteria PLXNA3-related disorder
- p.Ter1872= No assertion criteria PLXNA3-related disorder
- p.Thr1024= No assertion criteria PLXNA3-related disorder
- p.Thr1164= No assertion criteria PLXNA3-related disorder
- p.Thr1280= No assertion criteria PLXNA3-related disorder
- p.Thr1322= No assertion criteria PLXNA3-related disorder
- p.Thr1349= No assertion criteria PLXNA3-related disorder
- p.Thr1456= No assertion criteria PLXNA3-related disorder
- p.Thr1549= No assertion criteria PLXNA3-related disorder
- p.Thr1604= No assertion criteria PLXNA3-related disorder
- p.Thr1619= No assertion criteria PLXNA3-related disorder
- p.Thr1744= No assertion criteria PLXNA3-related disorder
- p.Thr180= No assertion criteria PLXNA3-related disorder
- p.Thr215= No assertion criteria PLXNA3-related disorder
- p.Thr240= No assertion criteria PLXNA3-related disorder
- p.Thr245= No assertion criteria PLXNA3-related disorder
- p.Thr378= No assertion criteria PLXNA3-related disorder
- p.Thr552= No assertion criteria PLXNA3-related disorder
- p.Thr559= No assertion criteria PLXNA3-related disorder
- p.Thr662= No assertion criteria PLXNA3-related disorder
- p.Thr856= No assertion criteria PLXNA3-related disorder
- p.Thr936= No assertion criteria PLXNA3-related disorder
- p.Tyr104= No assertion criteria PLXNA3-related disorder
- p.Tyr1302= No assertion criteria PLXNA3-related disorder
Uncertain significance 435
Showing the top 300 by review status; the full set is in the sitemap.
- p.Arg1061His Multiple submitters PLXNA3-related disorder ⚠
- p.Arg519Leu Multiple submitters PLXNA3-related disorder ⚠
- p.Asn1009Thr Multiple submitters PLXNA3-related disorder ⚠
- p.Asp981Ala Multiple submitters PLXNA3-related disorder ⚠
- p.His88Tyr Multiple submitters PLXNA3-related disorder ⚠
- p.Leu339Val Multiple submitters PLXNA3-related disorder ⚠
- p.Leu761Pro Multiple submitters PLXNA3-related disorder ⚠
- p.Ser175Leu Multiple submitters PLXNA3-related disorder ⚠
- p.Thr1020Ala Multiple submitters ⚠
- c.1134+7C>T Single submitter
- c.2043+7C>T Single submitter PLXNA3-related disorder
- c.2936+8G>A Single submitter
- c.3202-10G>A Single submitter
- c.3585+5G>A Single submitter
- c.5157-7T>C Single submitter
- p.Ala105Val Single submitter ⚠
- p.Ala1093Val Single submitter ⚠
- p.Ala1154Thr Single submitter ⚠
- p.Ala1156Ser Single submitter ⚠
- p.Ala1225Val Single submitter ⚠
- p.Ala1237Val Single submitter PLXNA3-related disorder ⚠
- p.Ala1249Val Single submitter ⚠
- p.Ala1371Val Single submitter ⚠
- p.Ala145Asp Single submitter ⚠
- p.Ala1491Thr Single submitter ⚠
- p.Ala1826Val Single submitter ⚠
- p.Ala193Glu Single submitter ⚠
- p.Ala193Pro Single submitter ⚠
- p.Ala193Thr Single submitter ⚠
- p.Ala221Val Single submitter ⚠
- p.Ala233Thr Single submitter ⚠
- p.Ala312Gly Single submitter PLXNA3-related disorder ⚠
- p.Ala498Val Single submitter ⚠
- p.Ala526Thr Single submitter ⚠
- p.Ala570Val Single submitter ⚠
- p.Ala578Val Single submitter ⚠
- p.Ala747Thr Single submitter ⚠
- p.Arg1027His Single submitter ⚠
- p.Arg1055Gln Single submitter PLXNA3-related disorder ⚠
- p.Arg1088Trp Single submitter ⚠
- p.Arg108Cys Single submitter hypogonadotropic hypogonadism ⚠
- p.Arg1191Gln Single submitter ⚠
- p.Arg1191Trp Single submitter ⚠
- p.Arg1214Gln Single submitter ⚠
- p.Arg124His Single submitter ⚠
- p.Arg1255Leu Single submitter ⚠
- p.Arg1266His Single submitter ⚠
- p.Arg1305His Single submitter ⚠
- p.Arg1359Cys Single submitter hypogonadotropic hypogonadism ⚠
- p.Arg137Cys Single submitter ⚠
- p.Arg137Leu Single submitter ⚠
- p.Arg1470Cys Single submitter ⚠
- p.Arg1534Leu Single submitter ⚠
- p.Arg1593His Single submitter ⚠
- p.Arg1597Cys Single submitter ⚠
- p.Arg1603His Single submitter ⚠
- p.Arg1612Cys Single submitter
- p.Arg1645His Single submitter
- p.Arg1682Gln Single submitter
- p.Arg1765Cys Single submitter
- p.Arg1790Ser Single submitter ⚠
- p.Arg1838Cys Single submitter ⚠
- p.Arg1857Gln Single submitter ⚠
- p.Arg24Cys Single submitter ⚠
- p.Arg285Cys Single submitter ⚠
- p.Arg290Cys Single submitter ⚠
- p.Arg328Gln Single submitter ⚠
- p.Arg328Trp Single submitter ⚠
- p.Arg333Trp Single submitter ⚠
- p.Arg350Trp Single submitter ⚠
- p.Arg352His Single submitter
- p.Arg40Gln Single submitter ⚠
- p.Arg464Gln Single submitter ⚠
- p.Arg514Ter Single submitter
- p.Arg519Cys Single submitter ⚠
- p.Arg519His Single submitter ⚠
- p.Arg543Trp Single submitter ⚠
- p.Arg545Gln Single submitter ⚠
- p.Arg613His Single submitter ⚠
- p.Arg666Cys Single submitter ⚠
- p.Arg728Gln Single submitter ⚠
- p.Arg76Cys Single submitter ⚠
- p.Arg76His Single submitter ⚠
- p.Arg817Gln Single submitter ⚠
- p.Arg84= Single submitter PLXNA3-related disorder
- p.Arg841Cys Single submitter
- p.Arg857Gln Single submitter ⚠
- p.Arg875Gln Single submitter ⚠
- p.Arg875Leu Single submitter ⚠
- p.Arg952Gln Single submitter ⚠
- p.Arg952Trp Single submitter ⚠
- p.Asn1325Thr Single submitter ⚠
- p.Asn1487Asp Single submitter ⚠
- p.Asn1499Asp Single submitter ⚠
- p.Asn1783Ser Single submitter ⚠
- p.Asn548His Single submitter ⚠
- p.Asn564Ser Single submitter autism ⚠
- p.Asn95Ser Single submitter
- p.Asp1006Gly Single submitter ⚠
- p.Asp1290Glu Single submitter ⚠
- p.Asp1298Ala Single submitter ⚠
- p.Asp1360Asn Single submitter ⚠
- p.Asp1474Asn Single submitter ⚠
- p.Asp1644Ala Single submitter
- p.Asp172Asn Single submitter ⚠
- p.Asp1870Glu Single submitter ⚠
- p.Asp409Asn Single submitter ⚠
- p.Asp443Asn Single submitter ⚠
- p.Asp505Tyr Single submitter ⚠
- p.Asp921Asn Single submitter ⚠
- p.Asp94Glu Single submitter ⚠
- p.Cys1441Arg Single submitter ⚠
- p.Cys647Ser Single submitter ⚠
- p.Gln1094Ter Single submitter
- p.Gln246Glu Single submitter ⚠
- p.Gln306Glu Single submitter ⚠
- p.Gln381His Single submitter ⚠
- p.Gln541His Single submitter ⚠
- p.Gln700Arg Single submitter ⚠
- p.Gln928His Single submitter ⚠
- p.Glu1291Gln Single submitter ⚠
- p.Glu1553Lys Single submitter PLXNA3-related disorder ⚠
- p.Glu1642Asp Single submitter ⚠
- p.Glu176Asp Single submitter ⚠
- p.Glu314Ala Single submitter ⚠
- p.Glu360Asp Single submitter ⚠
- p.Glu372Gln Single submitter ⚠
- p.Glu402Lys Single submitter ⚠
- p.Glu520Asp Single submitter ⚠
- p.Glu520Lys Single submitter ⚠
- p.Glu685Lys Single submitter ⚠
- p.Glu72Lys Single submitter autism ⚠
- p.Glu974Lys Single submitter ⚠
- p.Gly1083Ser Single submitter ⚠
- p.Gly1157Ser Single submitter ⚠
- p.Gly1227Glu Single submitter ⚠
- p.Gly144Val Single submitter
- p.Gly1570Ser Single submitter ⚠
- p.Gly15Arg Single submitter ⚠
- p.Gly19Ser Single submitter ⚠
- p.Gly229Cys Single submitter ⚠
- p.Gly229Ser Single submitter ⚠
- p.Gly286Ser Single submitter ⚠
- p.Gly590Ser Single submitter ⚠
- p.Gly682Ser Single submitter ⚠
- p.Gly753Asp Single submitter ⚠
- p.Gly873Asp Single submitter ⚠
- p.His1097Asn Single submitter ⚠
- p.His1338Leu Single submitter ⚠
- p.His1637Arg Single submitter ⚠
- p.His348Arg Single submitter ⚠
- p.His425Arg Single submitter ⚠
- p.His530Tyr Single submitter ⚠
- p.His668Asp Single submitter neurodevelopmental disorder ⚠
- p.His756Gln Single submitter ⚠
- p.Ile1016Met Single submitter ⚠
- p.Ile102Val Single submitter ⚠
- p.Ile119Met Single submitter ⚠
- p.Ile1210Phe Single submitter ⚠
- p.Ile1235Val Single submitter ⚠
- p.Ile1503Val Single submitter ⚠
- p.Ile1541Val Single submitter PLXNA3-related disorder ⚠
- p.Ile1552Met Single submitter ⚠
- p.Ile1690Val Single submitter ⚠
- p.Ile209Met Single submitter ⚠
- p.Ile353Val Single submitter ⚠
- p.Ile475Val Single submitter ⚠
- p.Ile988Val Single submitter ⚠
- p.Leu1086Val Single submitter hypogonadotropic hypogonadism ⚠
- p.Leu1307Phe Single submitter ⚠
- p.Leu1332Phe Single submitter ⚠
- p.Leu218Ser Single submitter ⚠
- p.Leu239Val Single submitter ⚠
- p.Leu241_Thr245del Single submitter
- p.Leu243Val Single submitter ⚠
- p.Leu249_Met265delinsProGlnThrGlnArgAlaArgAsnPheHisValGlnAsn Single submitter PLXNA3-associated seizure disorder
- p.Leu303Pro Single submitter ⚠
- p.Leu342Val Single submitter ⚠
- p.Leu365Val Single submitter autism spectrum disorder ⚠
- p.Leu478Pro Single submitter ⚠
- p.Leu56Val Single submitter
- p.Leu586Pro Single submitter ⚠
- p.Leu63Val Single submitter ⚠
- p.Leu704Val Single submitter ⚠
- p.Leu8Val Single submitter ⚠
- p.Leu90Gln Single submitter ⚠
- p.Leu90Val Single submitter ⚠
- p.Leu99Val Single submitter ⚠
- p.Lys1139Gln Single submitter ⚠
- p.Lys1551Glu Single submitter ⚠
- p.Lys1740Glu Single submitter ⚠
- p.Lys174Asn Single submitter ⚠
- p.Met1585Thr Single submitter PLXNA3-related disorder ⚠
- p.Met265Val Single submitter ⚠
- p.Met645Thr Single submitter ⚠
- p.Phe1085Leu Single submitter ⚠
- p.Phe1422Leu Single submitter ⚠
- p.Phe1673Leu Single submitter ⚠
- p.Phe178Val Single submitter ⚠
- p.Phe278Leu Single submitter ⚠
- p.Pro1153His Single submitter ⚠
- p.Pro1219= Single submitter PLXNA3-related disorder
- p.Pro1485Leu Single submitter ⚠
- p.Pro1732Ser Single submitter ⚠
- p.Pro300Ala Single submitter ⚠
- p.Pro374Leu Single submitter ⚠
- p.Pro405Ala Single submitter ⚠
- p.Pro470Leu Single submitter ⚠
- p.Pro487Leu Single submitter ⚠
- p.Pro529Ala Single submitter ⚠
- p.Pro529Leu Single submitter ⚠
- p.Pro667Ser Single submitter ⚠
- p.Pro680Ser Single submitter ⚠
- p.Pro776Arg Single submitter neurodevelopmental disorder ⚠
- p.Pro79Leu Single submitter ⚠
- p.Pro80Ala Single submitter ⚠
- p.Pro821Leu Single submitter ⚠
- p.Pro885= Single submitter PLXNA3-related disorder
- p.Pro885Leu Single submitter ⚠
- p.Pro906Leu Single submitter ⚠
- p.Pro908Leu Single submitter PLXNA3-related disorder ⚠
- p.Pro92Ala Single submitter ⚠
- p.Ser1011Phe Single submitter ⚠
- p.Ser1012Asn Single submitter ⚠
- p.Ser1012Cys Single submitter
- p.Ser114Thr Single submitter ⚠
- p.Ser1185Leu Single submitter ⚠
- p.Ser1211Leu Single submitter ⚠
- p.Ser1397Asn Single submitter ⚠
- p.Ser150Ala Single submitter ⚠
- p.Ser1581Pro Single submitter ⚠
- p.Ser1600Asn Single submitter ⚠
- p.Ser163Asn Single submitter ⚠
- p.Ser1758Phe Single submitter ⚠
- p.Ser1850Pro Single submitter ⚠
- p.Ser197Arg Single submitter ⚠
- p.Ser283Phe Single submitter ⚠
- p.Ser283Pro Single submitter ⚠
- p.Ser434Asn Single submitter ⚠
- p.Ser646Pro Single submitter hypogonadotropic hypogonadism
- p.Ser671Phe Single submitter ⚠
- p.Ser748Leu Single submitter ⚠
- p.Ser901Leu Single submitter
- p.Ser941Arg Single submitter ⚠
- p.Thr1020Ser Single submitter ⚠
- p.Thr1042Ala Single submitter ⚠
- p.Thr1075Ala Single submitter ⚠
- p.Thr1408Ala Single submitter ⚠
- p.Thr1539Ile Single submitter ⚠
- p.Thr1592Ile Single submitter ⚠
- p.Thr1604Met Single submitter ⚠
- p.Thr1619Met Single submitter ⚠
- p.Thr1675Ala Single submitter PLXNA3-related disorder ⚠
- p.Thr1675Ile Single submitter ⚠
- p.Thr240Met Single submitter ⚠
- p.Thr245Ile Single submitter ⚠
- p.Thr248Met Single submitter ⚠
- p.Thr32Met Single submitter ⚠
- p.Thr490Ser Single submitter ⚠
- p.Thr662Met Single submitter ⚠
- p.Thr664Ala Single submitter ⚠
- p.Thr68Met Single submitter ⚠
- p.Thr936Ala Single submitter ⚠
- p.Tyr1163Cys Single submitter PLXNA3-related disorder ⚠
- p.Tyr225His Single submitter ⚠
- p.Tyr289Phe Single submitter ⚠
- p.Val1025Ile Single submitter ⚠
- p.Val1108Ala Single submitter ⚠
- p.Val1135Met Single submitter ⚠
- p.Val1304Met Single submitter ⚠
- p.Val14Met Single submitter ⚠
- p.Val1514Ala Single submitter ⚠
- p.Val167Leu Single submitter ⚠
- p.Val1735Met Single submitter ⚠
- p.Val1823Ile Single submitter ⚠
- p.Val1823Phe Single submitter ⚠
- p.Val1867Met Single submitter ⚠
- p.Val231Gly Single submitter ⚠
- p.Val231Ile Single submitter ⚠
- p.Val276Ala Single submitter PLXNA3-related disorder ⚠
- p.Val276Met Single submitter ⚠
- p.Val27Met Single submitter ⚠
- p.Val287Met Single submitter ⚠
- p.Val428Ile Single submitter ⚠
- p.Val454Leu Single submitter ⚠
- p.Val560Ile Single submitter ⚠
- p.Val640Ile Single submitter ⚠
- p.Val696Ala Single submitter PLXNA3-related disorder ⚠
- p.Val722Met Single submitter ⚠
- p.Val735Met Single submitter ⚠
- p.Val849Leu Single submitter ⚠
- p.Val85Met Single submitter ⚠
- p.Val895Met Single submitter PLXNA3-related neurodevelopmental disorder ⚠
- p.Val929Ile Single submitter ⚠
- p.Val93Met Single submitter ⚠
- p.Val986Met Single submitter ⚠
- c.3441+8C>T No assertion criteria PLXNA3-related disorder
- c.3442-4C>G No assertion criteria PLXNA3-related disorder
- c.5521-7C>A No assertion criteria PLXNA3-related disorder
- p.Ala1156Thr No assertion criteria PLXNA3-related disorder ⚠