OPHN1 — 553 ClinVar variants
All ClinVar germline OPHN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 224 flagged for review →
42 Pathogenic · 1 Pathogenic/Likely pathogenic · 44 Likely pathogenic · 25 Conflicting · 55 Benign · 28 Benign/Likely benign · 118 Likely benign · 240 Uncertain significance
Full OPHN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 224
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.
-
OPHN1 p.Thr326Met
Likely pathogenic
Multiple submitters
X-linked intellectual disability-cerebellar hypoplasia syndrome
-
OPHN1 p.Asp679Asn
Likely pathogenic
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
-
OPHN1 p.Ser55Phe
Likely pathogenic
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
Predictors agree, ClinVar conflicts 13
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
OPHN1 p.Arg409His
Conflicting
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Arg464Thr Conflicting Single submitter
-
OPHN1 p.Asn395Asp
Conflicting
Single submitter
Inborn genetic diseases
- OPHN1 p.Asn395Ser Conflicting Single submitter
-
OPHN1 p.Asp723Gly
Conflicting
Single submitter
Inborn genetic diseases
-
OPHN1 p.Glu611Lys
Conflicting
Single submitter
Inborn genetic diseases
- OPHN1 p.Ile555Met Conflicting Single submitter
-
OPHN1 p.Ile557Val
Conflicting
Single submitter
Inborn genetic diseases
-
OPHN1 p.Leu677Met
Conflicting
Single submitter
Inborn genetic diseases
-
OPHN1 p.Pro711Leu
Conflicting
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
-
OPHN1 p.Ser438Gly
Conflicting
Single submitter
Inborn genetic diseases
-
OPHN1 p.Ser652Phe
Conflicting
Single submitter
Inborn genetic diseases
-
OPHN1 p.Ser724Gly
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 150
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- OPHN1 p.Ala354Thr Uncertain significance Multiple submitters
- OPHN1 p.Arg120Gln Uncertain significance Multiple submitters
- OPHN1 p.Arg481His Uncertain significance Multiple submitters
-
OPHN1 p.Arg729Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPHN1 p.Arg729Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPHN1 p.Arg788Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPHN1 p.Asn517Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
- OPHN1 p.Asp168Gly Uncertain significance Multiple submitters
- OPHN1 p.Asp679Glu Uncertain significance Multiple submitters
-
OPHN1 p.Gln290Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPHN1 p.His150Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPHN1 p.His635Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPHN1 p.His717Arg
Uncertain significance
Multiple submitters
X-linked intellectual disability-cerebellar hypoplasia syndrome
-
OPHN1 p.Leu638Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPHN1 p.Leu638Pro
Uncertain significance
Multiple submitters
X-linked intellectual disability-cerebellar hypoplasia syndrome
-
OPHN1 p.Leu673Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPHN1 p.Lys376Glu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPHN1 p.Met380Thr
Uncertain significance
Multiple submitters
X-linked intellectual disability-cerebellar hypoplasia syndrome
-
OPHN1 p.Phe424Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPHN1 p.Pro619Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPHN1 p.Pro702His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPHN1 p.Pro798Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPHN1 p.Thr701Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
- OPHN1 p.Thr75Ala Uncertain significance Multiple submitters
-
OPHN1 p.Val670Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- OPHN1 p.Ala542Thr Uncertain significance Single submitter
-
OPHN1 p.Ala572Pro
Uncertain significance
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Ala572Thr Uncertain significance Single submitter
- OPHN1 p.Ala573Thr Uncertain significance Single submitter
- OPHN1 p.Ala583Thr Uncertain significance Single submitter
-
OPHN1 p.Ala710Val
Uncertain significance
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Ala765Thr Uncertain significance Single submitter
-
OPHN1 p.Arg19His
Uncertain significance
Single submitter
Inborn genetic diseases
- OPHN1 p.Arg19Pro Uncertain significance Single submitter
- OPHN1 p.Arg243Gln Uncertain significance Single submitter
-
OPHN1 p.Arg324Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- OPHN1 p.Arg356Gly Uncertain significance Single submitter
- OPHN1 p.Arg357Lys Uncertain significance Single submitter
-
OPHN1 p.Arg454Met
Uncertain significance
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Arg481Gly Uncertain significance Single submitter
- OPHN1 p.Arg642Ser Uncertain significance Single submitter
- OPHN1 p.Arg750Gln Uncertain significance Single submitter
- OPHN1 p.Arg796Ser Uncertain significance Single submitter
- OPHN1 p.Asn195Asp Uncertain significance Single submitter
- OPHN1 p.Asn195Ser Uncertain significance Single submitter
-
OPHN1 p.Asn33Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- OPHN1 p.Asn496Asp Uncertain significance Single submitter
- OPHN1 p.Asp721Val Uncertain significance Single submitter
- OPHN1 p.Cys260Phe Uncertain significance Single submitter
- OPHN1 p.Gln123Lys Uncertain significance Single submitter
- OPHN1 p.Gln161Lys Uncertain significance Single submitter
- OPHN1 p.Gln219Glu Uncertain significance Single submitter
- OPHN1 p.Gln305Glu Uncertain significance Single submitter
- OPHN1 p.Gln378His Uncertain significance Single submitter
-
OPHN1 p.Gln634His
Uncertain significance
Single submitter
Inborn genetic diseases
- OPHN1 p.Glu176Asp Uncertain significance Single submitter
-
OPHN1 p.Glu516Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- OPHN1 p.Glu667Asp Uncertain significance Single submitter
-
OPHN1 p.Glu770Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- OPHN1 p.Glu98Lys Uncertain significance Single submitter
-
OPHN1 p.Gly281Arg
Uncertain significance
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Gly43Arg Uncertain significance Single submitter
- OPHN1 p.Gly525Arg Uncertain significance Single submitter
- OPHN1 p.Gly525Glu Uncertain significance Single submitter
- OPHN1 p.Gly649Glu Uncertain significance Single submitter
- OPHN1 p.Gly660Arg Uncertain significance Single submitter
-
OPHN1 p.Gly681Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- OPHN1 p.Gly691Arg Uncertain significance Single submitter
- OPHN1 p.Gly697Val Uncertain significance Single submitter
- OPHN1 p.His635Gln Uncertain significance Single submitter
-
OPHN1 p.His717Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- OPHN1 p.His717Tyr Uncertain significance Single submitter
- OPHN1 p.Ile282Val Uncertain significance Single submitter
- OPHN1 p.Ile442Phe Uncertain significance Single submitter
- OPHN1 p.Ile504Val Uncertain significance Single submitter
-
OPHN1 p.Ile527Val
Uncertain significance
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Ile623Val Uncertain significance Single submitter
- OPHN1 p.Ile763Thr Uncertain significance Single submitter
- OPHN1 p.Leu165Gln Uncertain significance Single submitter
- OPHN1 p.Leu318Val Uncertain significance Single submitter
- OPHN1 p.Leu348Pro Uncertain significance Single submitter
- OPHN1 p.Leu46His Uncertain significance Single submitter
- OPHN1 p.Leu492Pro Uncertain significance Single submitter
- OPHN1 p.Leu507Ser Uncertain significance Single submitter
- OPHN1 p.Leu607Met Uncertain significance Single submitter
-
OPHN1 p.Leu64Pro
Uncertain significance
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Leu673Ser Uncertain significance Single submitter
-
OPHN1 p.Leu714Met
Uncertain significance
Single submitter
Inborn genetic diseases
- OPHN1 p.Leu94Pro Uncertain significance Single submitter
- OPHN1 p.Lys136Arg Uncertain significance Single submitter
-
OPHN1 p.Lys156Arg
Uncertain significance
Single submitter
OPHN1-related disorder
-
OPHN1 p.Lys254Arg
Uncertain significance
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Lys296Arg Uncertain significance Single submitter
- OPHN1 p.Lys428Gln Uncertain significance Single submitter
- OPHN1 p.Lys515Arg Uncertain significance Single submitter
- OPHN1 p.Lys672Asn Uncertain significance Single submitter
-
OPHN1 p.Lys683Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- OPHN1 p.Lys700Glu Uncertain significance Single submitter
-
OPHN1 p.Lys707Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- OPHN1 p.Lys718Thr Uncertain significance Single submitter
- OPHN1 p.Met300Leu Uncertain significance Single submitter
- OPHN1 p.Met360Ile Uncertain significance Single submitter
- OPHN1 p.Met363Lys Uncertain significance Single submitter
- OPHN1 p.Met50Leu Uncertain significance Single submitter
- OPHN1 p.Met693Val Uncertain significance Single submitter
- OPHN1 p.Pro115Thr Uncertain significance Single submitter
- OPHN1 p.Pro199Ala Uncertain significance Single submitter
- OPHN1 p.Pro199Ser Uncertain significance Single submitter
- OPHN1 p.Pro257Ala Uncertain significance Single submitter
- OPHN1 p.Pro266Gln Uncertain significance Single submitter
- OPHN1 p.Pro307Ser Uncertain significance Single submitter
- OPHN1 p.Pro343Thr Uncertain significance Single submitter
- OPHN1 p.Pro530Thr Uncertain significance Single submitter
- OPHN1 p.Pro574Leu Uncertain significance Single submitter
- OPHN1 p.Pro575Ser Uncertain significance Single submitter
-
OPHN1 p.Pro578Leu
Uncertain significance
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
-
OPHN1 p.Pro629Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
OPHN1 p.Pro630His
Uncertain significance
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Pro632Leu Uncertain significance Single submitter
- OPHN1 p.Pro632Ser Uncertain significance Single submitter
- OPHN1 p.Pro653Thr Uncertain significance Single submitter
- OPHN1 p.Pro692His Uncertain significance Single submitter
- OPHN1 p.Pro713Ser Uncertain significance Single submitter
- OPHN1 p.Pro759Ala Uncertain significance Single submitter
-
OPHN1 p.Ser177Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- OPHN1 p.Ser240Ala Uncertain significance Single submitter
- OPHN1 p.Ser605Phe Uncertain significance Single submitter
- OPHN1 p.Ser610Thr Uncertain significance Single submitter
- OPHN1 p.Ser643Arg Uncertain significance Single submitter
- OPHN1 p.Ser654Arg Uncertain significance Single submitter
- OPHN1 p.Ser654Thr Uncertain significance Single submitter
-
OPHN1 p.Ser675Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- OPHN1 p.Thr218Ala Uncertain significance Single submitter
- OPHN1 p.Thr242Pro Uncertain significance Single submitter
-
OPHN1 p.Thr295Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
OPHN1 p.Thr410Ala
Uncertain significance
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Thr520Asn Uncertain significance Single submitter
- OPHN1 p.Thr63Lys Uncertain significance Single submitter
- OPHN1 p.Thr736Ile Uncertain significance Single submitter
- OPHN1 p.Thr753Ile Uncertain significance Single submitter
- OPHN1 p.Thr772Ile Uncertain significance Single submitter
-
OPHN1 p.Thr77Ile
Uncertain significance
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Thr790Ile Uncertain significance Single submitter
- OPHN1 p.Trp284Gly Uncertain significance Single submitter
- OPHN1 p.Val105Leu Uncertain significance Single submitter
-
OPHN1 p.Val460Leu
Uncertain significance
Single submitter
OPHN1-related disorder
- OPHN1 p.Val581Ala Uncertain significance Single submitter
- OPHN1 p.Val668Ala Uncertain significance Single submitter
- OPHN1 p.Val742Leu Uncertain significance Single submitter
-
OPHN1 p.Pro730Leu
Uncertain significance
No assertion criteria
OPHN1-related disorder
Predictors split 58
The independent predictors disagree with each other — read with care.
- OPHN1 p.Ala49Thr Uncertain significance Multiple submitters
- OPHN1 p.Ala84Thr Uncertain significance Multiple submitters
-
OPHN1 p.Arg243Trp
Likely pathogenic
Multiple submitters
OPHN1-related disorder
-
OPHN1 p.Arg712Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPHN1 p.Arg739Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
OPHN1 p.Asp538Gly
Uncertain significance
Multiple submitters
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Gln186Arg Uncertain significance Multiple submitters
-
OPHN1 p.Leu358Gln
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
OPHN1 p.Met50Val
Uncertain significance
Multiple submitters
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Ala163Val Uncertain significance Single submitter
-
OPHN1 p.Arg147Gly
Uncertain significance
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Arg171Ser Uncertain significance Single submitter
- OPHN1 p.Arg252Met Uncertain significance Single submitter
-
OPHN1 p.Arg391Trp
Likely benign
Single submitter
Inborn genetic diseases
-
OPHN1 p.Arg497Gln
Conflicting
Single submitter
Inborn genetic diseases
- OPHN1 p.Arg594Cys Benign Single submitter
-
OPHN1 p.Arg594His
Uncertain significance
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Arg739His Uncertain significance Single submitter
- OPHN1 p.Arg750Trp Benign Single submitter
-
OPHN1 p.Asn99Tyr
Uncertain significance
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Asp146Ala Uncertain significance Single submitter
- OPHN1 p.Asp78Glu Uncertain significance Single submitter
-
OPHN1 p.Gln416His
Uncertain significance
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Glu190Asp Uncertain significance Single submitter
- OPHN1 p.Glu361Gln Uncertain significance Single submitter
- OPHN1 p.Glu398Gln Uncertain significance Single submitter
- OPHN1 p.Glu501Val Uncertain significance Single submitter
- OPHN1 p.Glu516Gly Uncertain significance Single submitter
- OPHN1 p.Glu96Lys Uncertain significance Single submitter
- OPHN1 p.Glu96Val Uncertain significance Single submitter
- OPHN1 p.Gly138Val Uncertain significance Single submitter
- OPHN1 p.Gly2Arg Uncertain significance Single submitter
- OPHN1 p.Gly2Val Uncertain significance Single submitter
- OPHN1 p.Gly308Asp Uncertain significance Single submitter
- OPHN1 p.Ile113Thr Uncertain significance Single submitter
- OPHN1 p.Ile402Phe Uncertain significance Single submitter
-
OPHN1 p.Ile72Thr
Conflicting
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Leu217His Uncertain significance Single submitter
- OPHN1 p.Leu407Trp Uncertain significance Single submitter
- OPHN1 p.Lys306Gln Uncertain significance Single submitter
- OPHN1 p.Lys366Glu Uncertain significance Single submitter
- OPHN1 p.Lys562Asn Uncertain significance Single submitter
- OPHN1 p.Lys587Thr Uncertain significance Single submitter
- OPHN1 p.Met524Ile Uncertain significance Single submitter
- OPHN1 p.Phe548Leu Uncertain significance Single submitter
-
OPHN1 p.Phe782Cys
Uncertain significance
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Pro588Arg Uncertain significance Single submitter
- OPHN1 p.Pro741Arg Uncertain significance Single submitter
-
OPHN1 p.Pro744Leu
Uncertain significance
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
-
OPHN1 p.Ser212Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
OPHN1 p.Ser448Phe
Uncertain significance
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Ser774Pro Uncertain significance Single submitter
- OPHN1 p.Thr590Met Uncertain significance Single submitter
-
OPHN1 p.Thr63Arg
Uncertain significance
Single submitter
autism spectrum disorder
- OPHN1 p.Thr77Ser Uncertain significance Single submitter
-
OPHN1 p.Trp278Ser
Uncertain significance
Single submitter
X-linked intellectual disability-cerebellar hypoplasia syndrome
- OPHN1 p.Trp440Cys Uncertain significance Single submitter
- OPHN1 p.Tyr490Cys Uncertain significance Single submitter
All OPHN1 variants
Pathogenic 42
- c.1138+1G>A Multiple submitters X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Arg497Ter Multiple submitters X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Arg597Ter Multiple submitters
- p.Gln416Ter Multiple submitters X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.1026-2A>G Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.154+2T>C Single submitter
- c.1834+1G>T Single submitter
- c.2159_2171delGGGATGCTGACAG Single submitter
- c.250+1G>T Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.312+1del Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.313_326del Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.384+1G>A Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.597+2T>C Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.702+1G>A Single submitter
- c.932_933+3delinsTA Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Arg409Cys Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Asn422fs Single submitter
- p.Cys321fs Single submitter
- p.Gln166Ter Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Gln258fs Single submitter
- p.Gln258Ter Single submitter
- p.Glu190Ter Single submitter
- p.Glu276Ter Single submitter
- p.Glu381Ter Single submitter Inborn genetic diseases
- p.His3fs Single submitter
- p.Ile337fs Single submitter
- p.Leu76fs Single submitter
- p.Lys392fs Single submitter
- p.Lys683fs Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Met300fs Single submitter
- p.Phe333fs Single submitter
- p.Phe704fs Single submitter Inborn genetic diseases
- p.Ser571fs Single submitter
- p.Tyr271Ter Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Tyr408Ter Single submitter
- c.2159-1G>C No assertion criteria X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Gln349Ter No assertion criteria Seizure
- p.Gln62Ter No assertion criteria X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Ile527fs No assertion criteria X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Lys251fs No assertion criteria X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Val215fs No assertion criteria X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Val57Asp No assertion criteria X-linked intellectual disability-cerebellar hypoplasia syndrome
Pathogenic/Likely pathogenic 1
- p.Lys156fs Multiple submitters congenital nervous system disorder
Likely pathogenic 44
- c.1202-1G>A Multiple submitters X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.155-2A>C Multiple submitters X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Arg243Trp Multiple submitters OPHN1-related disorder ⚠
- p.Thr326Met Multiple submitters X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- c.1025+2T>C Single submitter
- c.1105-1G>T Single submitter
- c.1277-1G>C Single submitter
- c.1362-2A>G Single submitter Inborn genetic diseases
- c.1420+1G>A Single submitter
- c.1421-2A>G Single submitter OPHN1-related disorder
- c.1526+1G>A Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.1526+2T>G Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.154+1G>T Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.155-1G>A Single submitter
- c.597+1del Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.598-1G>C Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.702+1G>T Single submitter OPHN1-related disorder
- c.702+4A>G Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.702+4A>T Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Ala472fs Single submitter
- p.Arg454Lys Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Asp679Asn Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Cys393Arg Single submitter
- p.Cys749fs Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Gln311Ter Single submitter OPHN1-related disorder
- p.Glu353fs Single submitter OPHN1-related disorder
- p.Glu361fs Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Glu379Ter Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Glu468Ter Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Glu537fs Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Gly529Glu Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Ile485fs Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Ile771fs Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Leu204fs Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Leu249Pro Single submitter isolated cerebellar hypoplasia/agenesis
- p.Leu314fs Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Lys419fs Single submitter
- p.Pro459Thr Single submitter
- p.Ser55Phe Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Ser703fs Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Tyr452Ter Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.1105-13_1109del No assertion criteria X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.934-2del No assertion criteria OPHN1-related disorder
- p.Glu98Ter No assertion criteria X-linked intellectual disability-cerebellar hypoplasia syndrome
Conflicting classifications of pathogenicity 25
- c.1686+6C>T Single submitter
- c.702+11A>C Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.702+8T>C Single submitter
- p.Ala473= Single submitter
- p.Arg120= Single submitter
- p.Arg409His Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Arg464Thr Single submitter ⚠
- p.Arg497Gln Single submitter Inborn genetic diseases ⚠
- p.Asn395Asp Single submitter Inborn genetic diseases ⚠
- p.Asn395Ser Single submitter ⚠
- p.Asp723Gly Single submitter Inborn genetic diseases ⚠
- p.Glu611Lys Single submitter Inborn genetic diseases ⚠
- p.Ile555Met Single submitter ⚠
- p.Ile557Val Single submitter Inborn genetic diseases ⚠
- p.Ile72Thr Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Leu677Met Single submitter Inborn genetic diseases ⚠
- p.Pro574= Single submitter
- p.Pro711Leu Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Ser438Gly Single submitter Inborn genetic diseases ⚠
- p.Ser610= Single submitter
- p.Ser652Phe Single submitter Inborn genetic diseases ⚠
- p.Ser724Gly Single submitter Inborn genetic diseases ⚠
- p.Thr582dup Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Thr772= Single submitter
- p.Val39_Asp42del Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
Benign 55
- c.1026-126A>G Multiple submitters
- c.1026-172G>C Multiple submitters
- c.1105-65T>C Multiple submitters
- c.1138+180A>G Multiple submitters
- c.1138+80T>C Multiple submitters
- c.1202-71C>T Multiple submitters
- c.1276+149C>T Multiple submitters
- c.1362-161C>T Multiple submitters
- c.1421-131C>G Multiple submitters
- c.1421-133C>G Multiple submitters
- c.155-67T>C Multiple submitters
- c.1835-94C>A Multiple submitters
- c.2376-77G>T Multiple submitters
- c.702+136T>C Multiple submitters
- c.702+29G>A Multiple submitters
- p.Thr301Met Multiple submitters Inborn genetic diseases
- p.Val39Ile Multiple submitters Inborn genetic diseases
- c.1025+12C>T Single submitter
- c.1026-10del Single submitter
- c.1026-10T>C Single submitter
- c.1105-307G>A Single submitter
- c.1139-17dup Single submitter
- c.1202-11dup Single submitter
- c.1277-16T>C Single submitter
- c.1421-130TG[12] Single submitter
- c.1421-130TG[15] Single submitter
- c.1421-130TG[16] Single submitter
- c.1421-130TG[17] Single submitter
- c.1421-130TG[18] Single submitter
- c.1421-130TG[21] Single submitter
- c.1421-137CT[3] Single submitter
- c.1526+10T>A Single submitter
- c.1526+8A>G Single submitter
- c.154+196T>C Single submitter
- c.1687-192G>A Single submitter
- c.2159-153_2159-151dup Single submitter
- c.2159-153_2159-152dup Single submitter
- c.2159-153dup Single submitter
- c.2324+16C>T Single submitter
- c.2375+235_2375+236dup Single submitter
- c.2375+235dup Single submitter
- c.597+314C>T Single submitter
- c.598-13A>G Single submitter
- c.598-245G>A Single submitter
- c.702+12T>G Single submitter
- c.832+160del Single submitter
- c.*8+241A>G Single submitter
- p.Arg594Cys Single submitter ⚠
- p.Arg750Trp Single submitter ⚠
- p.Asp723Glu Single submitter
- p.Gly799= Single submitter
- p.Leu465Phe Single submitter
- p.Leu556= Single submitter
- p.Lys59= Single submitter
- p.Thr301= Single submitter
Benign/Likely benign 28
- c.1026-15T>A Multiple submitters
- c.1362-17A>G Multiple submitters
- c.2324+10G>T Multiple submitters
- c.2376-19C>T Multiple submitters
- c.312+13C>T Multiple submitters
- c.832+16G>A Multiple submitters X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Ala45Thr Multiple submitters Inborn genetic diseases
- p.Ala583= Multiple submitters
- p.Ala688Ser Multiple submitters Inborn genetic diseases
- p.Ala715Val Multiple submitters Inborn genetic diseases
- p.Ala768Val Multiple submitters Inborn genetic diseases
- p.Arg712Gln Multiple submitters Inborn genetic diseases
- p.Arg788Trp Multiple submitters X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Asp336= Multiple submitters
- p.Asp669= Multiple submitters
- p.Asp79= Multiple submitters X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Glu613= Multiple submitters Inborn genetic diseases
- p.Gly769= Multiple submitters
- p.Leu111= Multiple submitters
- p.Leu358Gln Multiple submitters Inborn genetic diseases ⚠
- p.Leu502= Multiple submitters Inborn genetic diseases
- p.Lys193= Multiple submitters
- p.Met524Val Multiple submitters Inborn genetic diseases
- p.Met693Ile Multiple submitters Inborn genetic diseases
- p.Pro686Ser Multiple submitters Inborn genetic diseases
- p.Thr235= Multiple submitters Inborn genetic diseases
- p.Thr600Met Multiple submitters Inborn genetic diseases
- p.Val105= Multiple submitters
Likely benign 118
- c.1104+15A>T Multiple submitters
- c.1105-86G>A Multiple submitters
- c.154+16C>T Multiple submitters
- c.155-14C>T Multiple submitters
- c.2324+20A>C Multiple submitters
- c.832+112A>G Multiple submitters
- c.-108G>A Multiple submitters
- p.Arg324= Multiple submitters
- p.Asp74= Multiple submitters
- p.Gln68= Multiple submitters
- p.Gly312= Multiple submitters
- p.Ile504= Multiple submitters Inborn genetic diseases
- p.Leu421= Multiple submitters
- p.Pro493= Multiple submitters Inborn genetic diseases
- p.Pro5= Multiple submitters
- p.Pro630= Multiple submitters
- p.Thr600= Multiple submitters Inborn genetic diseases
- p.Tyr564= Multiple submitters
- c.1026-20A>T Single submitter
- c.1026-53del Single submitter
- c.1104+3A>G Single submitter
- c.1105-14A>G Single submitter
- c.1138+200G>A Single submitter
- c.1138+21G>A Single submitter
- c.1139-18_1139-17del Single submitter
- c.1139-20T>G Single submitter
- c.1202-94G>A Single submitter
- c.1276+207A>G Single submitter
- c.1277-20T>C Single submitter
- c.1277-62A>G Single submitter
- c.1361+126A>G Single submitter
- c.1420+12T>C Single submitter
- c.1526+9C>T Single submitter
- c.1527-18C>G Single submitter
- c.1527-302C>T Single submitter
- c.154+12G>T Single submitter
- c.154+14_154+17dup Single submitter
- c.155-20_155-19del Single submitter
- c.1687-4A>G Single submitter Inborn genetic diseases
- c.1834+13G>C Single submitter
- c.1834+187T>C Single submitter
- c.2158+8C>G Single submitter
- c.2324+14T>A Single submitter
- c.2325-19G>T Single submitter
- c.2325-4G>T Single submitter
- c.2325-8G>A Single submitter
- c.2375+7T>C Single submitter
- c.2375+7T>G Single submitter
- c.2375+9T>A Single submitter
- c.251-16G>A Single submitter
- c.251-8C>T Single submitter
- c.312+9C>T Single submitter
- c.313-18T>G Single submitter
- c.384+288C>A Single submitter
- c.385-15C>G Single submitter
- c.487-13C>G Single submitter
- c.597+11T>G Single submitter
- c.598-4C>T Single submitter
- c.702+319A>G Single submitter
- c.703-13G>A Single submitter
- c.703-16G>T Single submitter
- c.832+11A>T Single submitter
- c.832+159_832+160del Single submitter
- c.832+17G>T Single submitter
- c.832+19G>T Single submitter
- c.833-135C>T Single submitter
- c.933+20A>G Single submitter
- c.933+23T>A Single submitter
- c.934-20del Single submitter
- p.Arg391Trp Single submitter Inborn genetic diseases ⚠
- p.Arg481= Single submitter Inborn genetic diseases
- p.Arg642Lys Single submitter Inborn genetic diseases
- p.Arg739= Single submitter
- p.Asn509Ser Single submitter
- p.Asp441= Single submitter
- p.Asp538= Single submitter
- p.Asp762= Single submitter
- p.Asp78= Single submitter Inborn genetic diseases
- p.Gln229= Single submitter
- p.Gln755= Single submitter
- p.Glu458= Single submitter
- p.Glu667= Single submitter
- p.Glu7= Single submitter
- p.Gly691= Single submitter
- p.Gly795= Single submitter
- p.His616= Single submitter
- p.Ile557= Single submitter
- p.Ile589= Single submitter
- p.Ile591= Single submitter
- p.Ile771= Single submitter
- p.Ile83= Single submitter
- p.Leu420= Single submitter
- p.Leu518= Single submitter
- p.Leu595= Single submitter
- p.Leu596= Single submitter Inborn genetic diseases
- p.Lys169= Single submitter
- p.Lys23= Single submitter
- p.Phe174= Single submitter
- p.Phe175= Single submitter
- p.Phe560= Single submitter
- p.Pro16= Single submitter
- p.Pro4= Single submitter
- p.Pro578= Single submitter
- p.Pro619= Single submitter
- p.Pro692= Single submitter
- p.Pro740= Single submitter
- p.Pro761= Single submitter
- p.Ser55= Single submitter
- p.Thr295= Single submitter
- p.Thr347= Single submitter
- p.Thr410= Single submitter
- p.Thr446= Single submitter
- p.Thr531= Single submitter
- p.Thr590= Single submitter
- p.Tyr25= Single submitter
- p.Val285= Single submitter
- p.Val553= Single submitter
- c.1687-10T>C No assertion criteria OPHN1-related disorder
Uncertain significance 240
- c.2159-7C>T Multiple submitters
- p.Ala354Thr Multiple submitters ⚠
- p.Ala49Thr Multiple submitters ⚠
- p.Ala84Thr Multiple submitters ⚠
- p.Arg120Gln Multiple submitters ⚠
- p.Arg481His Multiple submitters ⚠
- p.Arg712Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg729Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg729Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg739Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg788Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn517Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asp168Gly Multiple submitters ⚠
- p.Asp538Gly Multiple submitters X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Asp679Glu Multiple submitters ⚠
- p.Gln186Arg Multiple submitters ⚠
- p.Gln290Arg Multiple submitters Inborn genetic diseases ⚠
- p.His150Asn Multiple submitters Inborn genetic diseases ⚠
- p.His635Asn Multiple submitters Inborn genetic diseases ⚠
- p.His717Arg Multiple submitters X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Leu638Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu638Pro Multiple submitters X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Leu673Phe Multiple submitters Inborn genetic diseases ⚠
- p.Lys376Glu Multiple submitters Inborn genetic diseases ⚠
- p.Met380Thr Multiple submitters X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Met50Val Multiple submitters X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Phe424Val Multiple submitters Inborn genetic diseases ⚠
- p.Pro619Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro702His Multiple submitters Inborn genetic diseases ⚠
- p.Pro798Ser Multiple submitters Inborn genetic diseases ⚠
- p.Thr701Ile Multiple submitters Inborn genetic diseases ⚠
- p.Thr75Ala Multiple submitters ⚠
- p.Val670Met Multiple submitters Inborn genetic diseases ⚠
- c.1025+13G>A Single submitter
- c.1025+8G>A Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.1139-3C>T Single submitter
- c.1139-46A>G Single submitter
- c.1139-8del Single submitter
- c.1201+3A>G Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.1202-3T>C Single submitter
- c.1277-14C>T Single submitter
- c.1361+4T>A Single submitter
- c.1420+3_1420+14del Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.1420+4_1420+7del Single submitter
- c.1526+5G>T Single submitter
- c.1526+6T>C Single submitter
- c.1686+2T>C Single submitter Inborn genetic diseases
- c.2158+1G>T Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.2159-4C>A Single submitter
- c.2159-4C>T Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.487-5_487-3del Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.597+4del Single submitter
- c.702+5G>A Single submitter
- c.702+6T>C Single submitter
- c.832+3G>A Single submitter
- c.832+6T>G Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- c.934-5A>G Single submitter Inborn genetic diseases
- c.-2C>T Single submitter
- c.-5+2T>A Single submitter
- c.*3432T>C Single submitter
- c.*8+3A>G Single submitter
- p.Ala163Val Single submitter ⚠
- p.Ala542Thr Single submitter ⚠
- p.Ala572Pro Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Ala572Thr Single submitter ⚠
- p.Ala573Thr Single submitter ⚠
- p.Ala583Thr Single submitter ⚠
- p.Ala710Val Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Ala765Thr Single submitter ⚠
- p.Arg147Gly Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Arg171Ser Single submitter ⚠
- p.Arg19His Single submitter Inborn genetic diseases ⚠
- p.Arg19Pro Single submitter ⚠
- p.Arg243Gln Single submitter ⚠
- p.Arg252Met Single submitter ⚠
- p.Arg324Lys Single submitter Inborn genetic diseases ⚠
- p.Arg356Gly Single submitter ⚠
- p.Arg357Lys Single submitter ⚠
- p.Arg454Met Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Arg481Gly Single submitter ⚠
- p.Arg594His Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Arg642Ser Single submitter ⚠
- p.Arg739His Single submitter ⚠
- p.Arg750Gln Single submitter ⚠
- p.Arg796Ser Single submitter ⚠
- p.Asn195Asp Single submitter ⚠
- p.Asn195Ser Single submitter ⚠
- p.Asn33Ser Single submitter Inborn genetic diseases ⚠
- p.Asn496Asp Single submitter ⚠
- p.Asn99Tyr Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Asp110Tyr Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Asp146Ala Single submitter ⚠
- p.Asp721Val Single submitter ⚠
- p.Asp78Glu Single submitter ⚠
- p.Cys260Phe Single submitter ⚠
- p.Cys334Leu Single submitter
- p.Gln123Lys Single submitter ⚠
- p.Gln161Lys Single submitter ⚠
- p.Gln219Glu Single submitter ⚠
- p.Gln305Glu Single submitter ⚠
- p.Gln378His Single submitter ⚠
- p.Gln416His Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Gln634His Single submitter Inborn genetic diseases ⚠
- p.Gln794Ter Single submitter
- p.Glu176Asp Single submitter ⚠
- p.Glu190Asp Single submitter ⚠
- p.Glu338Gly Single submitter Inborn genetic diseases
- p.Glu361Gln Single submitter ⚠
- p.Glu398Gln Single submitter ⚠
- p.Glu501Val Single submitter ⚠
- p.Glu516Asp Single submitter Inborn genetic diseases ⚠
- p.Glu516Gly Single submitter ⚠
- p.Glu667Asp Single submitter ⚠
- p.Glu770Asp Single submitter Inborn genetic diseases ⚠
- p.Glu801Ter Single submitter
- p.Glu96Lys Single submitter ⚠
- p.Glu96Val Single submitter ⚠
- p.Glu98Lys Single submitter ⚠
- p.Gly138Val Single submitter ⚠
- p.Gly281Arg Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Gly2Arg Single submitter ⚠
- p.Gly2Val Single submitter ⚠
- p.Gly308Asp Single submitter ⚠
- p.Gly43Arg Single submitter ⚠
- p.Gly525Arg Single submitter ⚠
- p.Gly525Glu Single submitter ⚠
- p.Gly649Glu Single submitter ⚠
- p.Gly660Arg Single submitter ⚠
- p.Gly681Arg Single submitter Inborn genetic diseases ⚠
- p.Gly691Arg Single submitter ⚠
- p.Gly697Val Single submitter ⚠
- p.His635Gln Single submitter ⚠
- p.His717Asp Single submitter Inborn genetic diseases ⚠
- p.His717Tyr Single submitter ⚠
- p.Ile113Thr Single submitter ⚠
- p.Ile282Val Single submitter ⚠
- p.Ile402Phe Single submitter ⚠
- p.Ile442Phe Single submitter ⚠
- p.Ile504Val Single submitter ⚠
- p.Ile527Val Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Ile623Val Single submitter ⚠
- p.Ile763Thr Single submitter ⚠
- p.Leu165Gln Single submitter ⚠
- p.Leu217His Single submitter ⚠
- p.Leu318Val Single submitter ⚠
- p.Leu348Pro Single submitter ⚠
- p.Leu407Trp Single submitter ⚠
- p.Leu46His Single submitter ⚠
- p.Leu492Pro Single submitter ⚠
- p.Leu507Ser Single submitter ⚠
- p.Leu607Met Single submitter ⚠
- p.Leu64Pro Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Leu673Ser Single submitter ⚠
- p.Leu714Met Single submitter Inborn genetic diseases ⚠
- p.Leu94Pro Single submitter ⚠
- p.Lys136Arg Single submitter ⚠
- p.Lys156Arg Single submitter OPHN1-related disorder ⚠
- p.Lys254Arg Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Lys296Arg Single submitter ⚠
- p.Lys306Gln Single submitter ⚠
- p.Lys366Glu Single submitter ⚠
- p.Lys428Gln Single submitter ⚠
- p.Lys515Arg Single submitter ⚠
- p.Lys562Asn Single submitter ⚠
- p.Lys587Thr Single submitter ⚠
- p.Lys672Asn Single submitter ⚠
- p.Lys683Asn Single submitter Inborn genetic diseases ⚠
- p.Lys700Glu Single submitter ⚠
- p.Lys707Arg Single submitter Inborn genetic diseases ⚠
- p.Lys718Thr Single submitter ⚠
- p.Met300Leu Single submitter ⚠
- p.Met360Ile Single submitter ⚠
- p.Met363Lys Single submitter ⚠
- p.Met50Leu Single submitter ⚠
- p.Met524Ile Single submitter ⚠
- p.Met693Val Single submitter ⚠
- p.Phe548Leu Single submitter ⚠
- p.Phe782Cys Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Pro115Thr Single submitter ⚠
- p.Pro199Ala Single submitter ⚠
- p.Pro199Ser Single submitter ⚠
- p.Pro257Ala Single submitter ⚠
- p.Pro266Gln Single submitter ⚠
- p.Pro307Ser Single submitter ⚠
- p.Pro343Thr Single submitter ⚠
- p.Pro530Thr Single submitter ⚠
- p.Pro574Leu Single submitter ⚠
- p.Pro575Ser Single submitter ⚠
- p.Pro578Leu Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Pro588Arg Single submitter ⚠
- p.Pro629Leu Single submitter Inborn genetic diseases ⚠
- p.Pro630His Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Pro632Leu Single submitter ⚠
- p.Pro632Ser Single submitter ⚠
- p.Pro653Thr Single submitter ⚠
- p.Pro692His Single submitter ⚠
- p.Pro713Ser Single submitter ⚠
- p.Pro741Arg Single submitter ⚠
- p.Pro744Leu Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Pro759Ala Single submitter ⚠
- p.Ser177Thr Single submitter Inborn genetic diseases ⚠
- p.Ser212Ile Single submitter Inborn genetic diseases ⚠
- p.Ser240Ala Single submitter ⚠
- p.Ser448Phe Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Ser605Phe Single submitter ⚠
- p.Ser606del Single submitter
- p.Ser610Thr Single submitter ⚠
- p.Ser643Arg Single submitter ⚠
- p.Ser654Arg Single submitter ⚠
- p.Ser654Thr Single submitter ⚠
- p.Ser675Phe Single submitter Inborn genetic diseases ⚠
- p.Ser774Pro Single submitter ⚠
- p.Thr218Ala Single submitter ⚠
- p.Thr242Pro Single submitter ⚠
- p.Thr295Ala Single submitter Inborn genetic diseases ⚠
- p.Thr410Ala Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Thr520Asn Single submitter ⚠
- p.Thr590Met Single submitter ⚠
- p.Thr63Arg Single submitter autism spectrum disorder ⚠
- p.Thr63Lys Single submitter ⚠
- p.Thr699del Single submitter
- p.Thr736Ile Single submitter ⚠
- p.Thr753Ile Single submitter ⚠
- p.Thr772Ile Single submitter ⚠
- p.Thr77Ile Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Thr77Ser Single submitter ⚠
- p.Thr790Ile Single submitter ⚠
- p.Trp278Ser Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome ⚠
- p.Trp284Gly Single submitter ⚠
- p.Trp440Cys Single submitter ⚠
- p.Tyr271Cys Single submitter X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Tyr490Cys Single submitter ⚠
- p.Val105Leu Single submitter ⚠
- p.Val460Leu Single submitter OPHN1-related disorder ⚠
- p.Val581Ala Single submitter ⚠
- p.Val668Ala Single submitter ⚠
- p.Val742Leu Single submitter ⚠
- c.1138+4A>G No assertion criteria OPHN1-related disorder
- c.1201+2dup No assertion criteria X-linked intellectual disability-cerebellar hypoplasia syndrome
- p.Pro730Leu No assertion criteria OPHN1-related disorder ⚠