TMEM216 — 302 ClinVar variants
All ClinVar germline TMEM216 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 61 flagged for review →
17 Pathogenic · 7 Pathogenic/Likely pathogenic · 23 Likely pathogenic · 22 Conflicting · 8 Benign · 5 Benign/Likely benign · 115 Likely benign · 105 Uncertain significance
Full TMEM216 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 61
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 7
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
TMEM216 p.Arg73Cys
Conflicting
Single submitter
Joubert syndrome
-
TMEM216 p.Glu38Gly
Conflicting
Single submitter
Joubert syndrome
-
TMEM216 p.Leu2Pro
Conflicting
Single submitter
Meckel syndrome, type 2
-
TMEM216 p.Met120Val
Conflicting
Single submitter
Joubert syndrome 2
-
TMEM216 p.Phe97Ile
Conflicting
Single submitter
Meckel syndrome, type 2
-
TMEM216 p.Val47Ala
Conflicting
Single submitter
Joubert syndrome 2
-
TMEM216 p.Val71Leu
Conflicting
Single submitter
Joubert syndrome
Predictors lean, ClinVar uncertain 41
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
TMEM216 p.Ala9Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMEM216 p.Arg115Cys
Uncertain significance
Multiple submitters
Joubert syndrome
-
TMEM216 p.Arg144Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMEM216 p.Arg4Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMEM216 p.Asn31Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMEM216 p.Leu26Gln
Uncertain significance
Multiple submitters
Meckel syndrome, type 2
-
TMEM216 p.Met120Thr
Uncertain significance
Multiple submitters
Joubert syndrome
-
TMEM216 p.Met87Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMEM216 p.Met8Val
Uncertain significance
Multiple submitters
Meckel syndrome, type 2
-
TMEM216 p.Phe127Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMEM216 p.Pro3Thr
Uncertain significance
Multiple submitters
Meckel syndrome, type 2
-
TMEM216 p.Pro88Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMEM216 p.Val113Ile
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMEM216 p.Val136Met
Uncertain significance
Multiple submitters
Meckel syndrome, type 2
-
TMEM216 p.Val93Met
Uncertain significance
Multiple submitters
Meckel syndrome, type 2
-
TMEM216 p.Ala140Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMEM216 p.Ala94Val
Uncertain significance
Single submitter
Joubert syndrome 2
- TMEM216 p.Arg115Gly Uncertain significance Single submitter
-
TMEM216 p.Arg144Lys
Uncertain significance
Single submitter
Joubert syndrome
-
TMEM216 p.Arg14Gly
Uncertain significance
Single submitter
Joubert syndrome
-
TMEM216 p.Arg14Trp
Uncertain significance
Single submitter
Joubert syndrome
- TMEM216 p.Arg73Ser Uncertain significance Single submitter
-
TMEM216 p.Arg85Gln
Uncertain significance
Single submitter
Joubert syndrome
-
TMEM216 p.Gly5Val
Uncertain significance
Single submitter
Joubert syndrome
-
TMEM216 p.Ile123Val
Uncertain significance
Single submitter
Joubert syndrome
-
TMEM216 p.Ile41Val
Uncertain significance
Single submitter
Joubert syndrome
-
TMEM216 p.Leu108Met
Uncertain significance
Single submitter
Joubert syndrome
-
TMEM216 p.Leu108Pro
Uncertain significance
Single submitter
Joubert syndrome 2
-
TMEM216 p.Leu116Gln
Uncertain significance
Single submitter
Joubert syndrome 2
- TMEM216 p.Leu23Arg Uncertain significance Single submitter
-
TMEM216 p.Leu2Val
Uncertain significance
Single submitter
Joubert syndrome
-
TMEM216 p.Leu48Val
Uncertain significance
Single submitter
Joubert syndrome
-
TMEM216 p.Leu6Val
Uncertain significance
Single submitter
Joubert syndrome
-
TMEM216 p.Lys86Arg
Uncertain significance
Single submitter
Joubert syndrome
-
TMEM216 p.Met101Leu
Uncertain significance
Single submitter
Joubert syndrome
-
TMEM216 p.Tyr112Cys
Uncertain significance
Single submitter
Joubert syndrome
-
TMEM216 p.Val136Leu
Uncertain significance
Single submitter
Joubert syndrome 2
-
TMEM216 p.Asn27Lys
Uncertain significance
No assertion criteria
Joubert syndrome 2
-
TMEM216 p.Leu65Ile
Uncertain significance
No assertion criteria
Joubert syndrome 2
-
TMEM216 p.Leu6Met
Uncertain significance
No assertion criteria
Joubert syndrome 2
-
TMEM216 p.Pro3Ser
Uncertain significance
No assertion criteria
Joubert syndrome 2
Predictors split 13
The independent predictors disagree with each other — read with care.
-
TMEM216 p.Arg115His
Uncertain significance
Multiple submitters
Meckel syndrome, type 2
-
TMEM216 p.Arg115Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
TMEM216 p.Tyr34Cys
Uncertain significance
Multiple submitters
Joubert syndrome
-
TMEM216 p.Glu70Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
TMEM216 p.Gly68Val
Uncertain significance
Single submitter
Joubert syndrome
-
TMEM216 p.Leu116Pro
Uncertain significance
Single submitter
Joubert syndrome
-
TMEM216 p.Leu137Pro
Uncertain significance
Single submitter
Joubert syndrome
-
TMEM216 p.Met62Ile
Uncertain significance
Single submitter
Joubert syndrome
-
TMEM216 p.Phe35Leu
Uncertain significance
Single submitter
Joubert syndrome 2
-
TMEM216 p.Phe75Cys
Uncertain significance
Single submitter
Joubert syndrome
-
TMEM216 p.Val113Leu
Uncertain significance
Single submitter
Joubert syndrome 2
-
TMEM216 p.Arg115Pro
Uncertain significance
No assertion criteria
Joubert syndrome 2
-
TMEM216 p.Gly77Ala
Pathogenic/Likely pathogenic
No assertion criteria
Meckel syndrome, type 2
All TMEM216 variants
Pathogenic 17
- c.-69G>A Multiple submitters Joubert syndrome and related disorders
- c.-69G>T Multiple submitters Joubert syndrome and related disorders
- p.Arg73Leu Multiple submitters TMEM216-related disorder
- p.Arg85Ter Multiple submitters Meckel syndrome, type 2
- c.222_229+3delinsTTTTTTTGTT Single submitter Joubert syndrome 2
- p.Asn121fs Single submitter Joubert syndrome
- p.Cys83fs Single submitter Joubert syndrome
- p.Cys83Ter Single submitter Joubert syndrome
- p.Gln110Ter Single submitter Joubert syndrome
- p.Gln84Ter Single submitter Joubert syndrome
- p.Gly46fs Single submitter Joubert syndrome
- p.Gly77fs Single submitter Joubert syndrome
- p.Leu125fs Single submitter Joubert syndrome
- p.Leu26_Asn27insPhePhePhePhePhePheXaaXaaXaaXaaLeuValIleArgProProArgProProLysValLeuGlyLeuGlnAlaTer Single submitter Joubert syndrome
- p.Lys79fs Single submitter Joubert syndrome
- p.Phe25_Leu26insTer Single submitter Joubert syndrome
- p.Phe40fs Single submitter Joubert syndrome
Pathogenic/Likely pathogenic 7
- p.Arg73His Multiple submitters Meckel syndrome, type 2
- p.Leu23fs Multiple submitters Joubert syndrome
- p.Leu64fs Multiple submitters Joubert syndrome 2
- p.Trp29Ter Multiple submitters TMEM216-related disorder
- p.Tyr66fs Multiple submitters Joubert syndrome
- p.Gly77Ala No assertion criteria Meckel syndrome, type 2 ⚠
- p.Leu114Arg No assertion criteria Meckel syndrome, type 2
Likely pathogenic 23
- c.137-1G>A Multiple submitters Joubert syndrome 2
- c.137-2A>G Multiple submitters Joubert syndrome 2
- c.229+1G>A Multiple submitters Joubert syndrome 2
- c.229+1G>C Multiple submitters TMEM216-related disorder
- c.230-2A>G Multiple submitters Joubert syndrome 2
- c.34+2T>C Multiple submitters Joubert syndrome 2
- c.35-13_36del Multiple submitters Joubert syndrome 2
- c.136+2T>G Single submitter Joubert syndrome
- c.137-2A>C Single submitter Joubert syndrome
- c.229+1G>T Single submitter Joubert syndrome
- c.34+1G>A Single submitter Joubert syndrome 2
- c.35-1G>A Single submitter Joubert syndrome
- c.35-2_35-1insT Single submitter Joubert syndrome
- p.Arg14fs Single submitter Joubert syndrome 2
- p.Gln110fs Single submitter Inborn genetic diseases
- p.Glu38Ter Single submitter Joubert syndrome 2
- p.Leu132fs Single submitter Joubert syndrome 2
- p.Leu65fs Single submitter Joubert syndrome 2
- p.Met101fs Single submitter Joubert syndrome 2
- p.Phe76fs Single submitter Joubert syndrome 2
- p.Asn55fs No assertion criteria Joubert syndrome 2
- p.Tyr106fs No assertion criteria Meckel syndrome, type 2
- p.Tyr112Ter No assertion criteria Joubert syndrome 2
Conflicting classifications of pathogenicity 22
- c.137-17G>A Single submitter Meckel syndrome, type 2
- c.230-16G>A Single submitter Joubert syndrome 2
- c.230-1G>C Single submitter Joubert syndrome
- c.34+12G>C Single submitter Joubert syndrome 2
- c.34+18_34+21del Single submitter Joubert syndrome
- c.35-2A>G Single submitter Joubert syndrome 2
- c.-135T>C Single submitter Meckel syndrome, type 2
- c.-24C>T Single submitter Meckel syndrome, type 2
- c.-86G>A Single submitter Joubert syndrome 2
- c.-91G>A Single submitter Meckel syndrome, type 2
- c.*21A>G Single submitter Meckel syndrome, type 2
- c.*303C>T Single submitter Meckel syndrome, type 2
- p.Ala140= Single submitter Meckel syndrome, type 2
- p.Arg73Cys Single submitter Joubert syndrome ⚠
- p.Glu38Gly Single submitter Joubert syndrome ⚠
- p.Ile41= Single submitter Joubert syndrome
- p.Leu133Ter Single submitter Meckel syndrome, type 2
- p.Leu2Pro Single submitter Meckel syndrome, type 2 ⚠
- p.Met120Val Single submitter Joubert syndrome 2 ⚠
- p.Phe97Ile Single submitter Meckel syndrome, type 2 ⚠
- p.Val47Ala Single submitter Joubert syndrome 2 ⚠
- p.Val71Leu Single submitter Joubert syndrome ⚠
Benign 8
- c.229+78A>G Multiple submitters
- c.432-1G>C Multiple submitters Meckel syndrome, type 2
- c.-2G>T Multiple submitters Meckel syndrome, type 2
- c.-443T>C Multiple submitters
- c.*558G>A Multiple submitters Meckel syndrome, type 2
- c.432-10G>C Single submitter Joubert syndrome
- c.432-11_432-10insA Single submitter Joubert syndrome 2
- c.432-33A>G Single submitter
Benign/Likely benign 5
- c.35-17C>T Multiple submitters Meckel syndrome, type 2
- c.-24C>G Multiple submitters Meckel syndrome, type 2
- c.*444T>C Multiple submitters Joubert syndrome 2
- p.Arg85= Multiple submitters Meckel syndrome, type 2
- p.Ile72= Multiple submitters Meckel syndrome, type 2
Likely benign 115
- c.136+19T>C Multiple submitters Joubert syndrome
- c.229+10G>A Multiple submitters Joubert syndrome
- c.34+8T>C Multiple submitters Joubert syndrome
- c.431+118A>C Multiple submitters
- c.431+17A>C Multiple submitters Joubert syndrome
- c.431+20A>G Multiple submitters Joubert syndrome
- c.432-10G>A Multiple submitters Joubert syndrome
- p.Asn27= Multiple submitters Joubert syndrome
- p.Glu135= Multiple submitters Joubert syndrome
- p.Leu125= Multiple submitters Joubert syndrome
- p.Leu67= Multiple submitters Meckel syndrome, type 2
- p.Leu74= Multiple submitters Joubert syndrome
- p.Pro19= Multiple submitters Joubert syndrome
- p.Tyr112= Multiple submitters Inborn genetic diseases
- p.Val136= Multiple submitters Joubert syndrome
- c.136+10G>A Single submitter Joubert syndrome
- c.136+10G>C Single submitter Joubert syndrome
- c.136+10G>T Single submitter Joubert syndrome
- c.136+11C>T Single submitter Joubert syndrome
- c.136+14G>C Single submitter Joubert syndrome
- c.136+16G>T Single submitter Joubert syndrome
- c.136+17G>A Single submitter Joubert syndrome
- c.136+17G>T Single submitter Joubert syndrome
- c.136+220C>T Single submitter
- c.136+7_136+10del Single submitter Joubert syndrome
- c.136+7A>G Single submitter Joubert syndrome
- c.136+9G>C Single submitter Joubert syndrome
- c.137-10G>A Single submitter Joubert syndrome
- c.137-10G>C Single submitter Joubert syndrome
- c.137-11T>C Single submitter Joubert syndrome
- c.137-17G>T Single submitter Joubert syndrome
- c.137-18dup Single submitter Joubert syndrome
- c.137-18T>C Single submitter Joubert syndrome
- c.137-241T>C Single submitter
- c.137-6T>C Single submitter Joubert syndrome
- c.137-8A>G Single submitter Joubert syndrome
- c.229+15G>C Single submitter Joubert syndrome
- c.229+17G>A Single submitter Joubert syndrome
- c.229+19A>G Single submitter Joubert syndrome
- c.230-12T>C Single submitter Joubert syndrome
- c.230-14G>T Single submitter Joubert syndrome
- c.230-20C>T Single submitter Joubert syndrome
- c.34+10C>G Single submitter Joubert syndrome
- c.34+10C>T Single submitter Joubert syndrome
- c.34+11G>A Single submitter Joubert syndrome
- c.34+11G>T Single submitter Joubert syndrome
- c.34+12G>A Single submitter Joubert syndrome
- c.34+7T>A Single submitter Joubert syndrome
- c.35-10_35-8dup Single submitter Joubert syndrome
- c.35-10C>G Single submitter Joubert syndrome
- c.35-13G>C Single submitter Joubert syndrome
- c.35-17C>G Single submitter Joubert syndrome
- c.35-18T>A Single submitter Joubert syndrome
- c.35-18T>G Single submitter Joubert syndrome
- c.35-19_35-17del Single submitter Joubert syndrome
- c.35-19C>T Single submitter Joubert syndrome
- c.35-6T>C Single submitter Joubert syndrome
- c.35-8T>G Single submitter Joubert syndrome
- c.35-9C>G Single submitter Joubert syndrome
- c.431+10C>T Single submitter Joubert syndrome
- c.431+19C>G Single submitter Joubert syndrome
- c.431+7C>T Single submitter Joubert syndrome
- c.431+9G>A Single submitter Joubert syndrome
- c.432-11dup Single submitter
- c.432-12T>C Single submitter Joubert syndrome
- c.432-13A>G Single submitter Joubert syndrome
- c.432-15C>A Single submitter Joubert syndrome
- c.432-16G>C Single submitter Joubert syndrome
- c.432-19T>C Single submitter Joubert syndrome
- c.432-29TTTC[2] Single submitter
- p.Ala118= Single submitter Joubert syndrome
- p.Ala141= Single submitter Joubert syndrome
- p.Ala9= Single submitter Joubert syndrome
- p.Ala94= Single submitter Joubert syndrome
- p.Arg115= Single submitter Joubert syndrome
- p.Arg4Trp Single submitter Inborn genetic diseases
- p.Arg73= Single submitter Joubert syndrome
- p.Asn55= Single submitter Joubert syndrome
- p.Glu38= Single submitter Joubert syndrome
- p.Gly12= Single submitter Joubert syndrome
- p.Gly129= Single submitter Joubert syndrome
- p.Gly28= Single submitter Joubert syndrome
- p.Gly46= Single submitter Joubert syndrome
- p.Gly80= Single submitter Joubert syndrome
- p.Ile145= Single submitter Joubert syndrome
- p.Ile91= Single submitter Joubert syndrome
- p.Leu108= Single submitter Joubert syndrome
- p.Leu137= Single submitter Joubert syndrome
- p.Leu15= Single submitter Joubert syndrome
- p.Leu2= Single submitter Joubert syndrome
- p.Leu23= Single submitter Joubert syndrome
- p.Leu26= Single submitter Joubert syndrome
- p.Leu36= Single submitter Joubert syndrome
- p.Leu37= Single submitter Joubert syndrome
- p.Leu48= Single submitter Joubert syndrome
- p.Leu49= Single submitter Joubert syndrome
- p.Leu56= Single submitter Joubert syndrome
- p.Leu6= Single submitter Joubert syndrome
- p.Leu63= Single submitter Joubert syndrome
- p.Leu64= Single submitter Joubert syndrome
- p.Phe126= Single submitter Joubert syndrome
- p.Phe25= Single submitter Joubert syndrome
- p.Pro10= Single submitter
- p.Pro88= Single submitter Joubert syndrome
- p.Ser104= Single submitter Joubert syndrome
- p.Ser17= Single submitter Joubert syndrome
- p.Ser92= Single submitter Joubert syndrome
- p.Thr138= Single submitter Joubert syndrome
- p.Thr18= Single submitter Joubert syndrome
- p.Tyr44= Single submitter Joubert syndrome
- p.Val71= Single submitter Joubert syndrome
- p.Val93= Single submitter Joubert syndrome
- c.-28G>T No assertion criteria TMEM216-related disorder
- c.-6C>T No assertion criteria TMEM216-related disorder
- p.Arg144= No assertion criteria TMEM216-related disorder
Uncertain significance 105
- c.431+3A>G Multiple submitters Meckel syndrome, type 2
- c.432-1G>T Multiple submitters Joubert syndrome 2
- p.Ala9Val Multiple submitters Inborn genetic diseases ⚠
- p.Arg115Cys Multiple submitters Joubert syndrome ⚠
- p.Arg115His Multiple submitters Meckel syndrome, type 2 ⚠
- p.Arg115Leu Multiple submitters Inborn genetic diseases ⚠
- p.Arg144Ser Multiple submitters Inborn genetic diseases ⚠
- p.Arg4Gln Multiple submitters Inborn genetic diseases ⚠
- p.Asn31Asp Multiple submitters Inborn genetic diseases ⚠
- p.Cys128Arg Multiple submitters Joubert syndrome
- p.Leu26Gln Multiple submitters Meckel syndrome, type 2 ⚠
- p.Met1_Arg4del Multiple submitters Joubert syndrome
- p.Met120Thr Multiple submitters Joubert syndrome ⚠
- p.Met87Val Multiple submitters Inborn genetic diseases ⚠
- p.Met8Val Multiple submitters Meckel syndrome, type 2 ⚠
- p.Phe127Cys Multiple submitters Inborn genetic diseases ⚠
- p.Pro3Thr Multiple submitters Meckel syndrome, type 2 ⚠
- p.Pro88Leu Multiple submitters Inborn genetic diseases ⚠
- p.Tyr34Cys Multiple submitters Joubert syndrome ⚠
- p.Val113Ile Multiple submitters Inborn genetic diseases ⚠
- p.Val136Met Multiple submitters Meckel syndrome, type 2 ⚠
- p.Val93Met Multiple submitters Meckel syndrome, type 2 ⚠
- c.137-7T>A Single submitter
- c.229+5G>A Single submitter Joubert syndrome
- c.230-10T>C Single submitter Joubert syndrome
- c.230-11G>A Single submitter Joubert syndrome 2
- c.35-11_35-10delinsAA Single submitter Joubert syndrome
- c.35-14T>A Single submitter Joubert syndrome
- c.35-3del Single submitter Joubert syndrome
- c.431+5T>C Single submitter Joubert syndrome
- c.432-10delinsAC Single submitter Meckel syndrome, type 2
- c.432-3C>T Single submitter Joubert syndrome
- c.432-8A>G Single submitter Joubert syndrome 2
- c.-128A>C Single submitter Meckel syndrome, type 2
- c.-242C>T Single submitter Meckel syndrome, type 2
- c.-264C>T Single submitter Joubert syndrome 2
- c.-285A>G Single submitter Joubert syndrome 2
- c.*107G>T Single submitter Joubert syndrome 2
- c.*190A>G Single submitter Meckel syndrome, type 2
- c.*247C>T Single submitter Joubert syndrome 2
- c.*2G>C Single submitter
- c.*335G>A Single submitter Joubert syndrome 2
- c.*372C>T Single submitter Joubert syndrome 2
- c.*377T>C Single submitter Meckel syndrome, type 2
- c.*393C>T Single submitter Meckel syndrome, type 2
- c.*525T>G Single submitter Meckel syndrome, type 2
- c.*548T>A Single submitter Meckel syndrome, type 2
- c.*6A>G Single submitter Joubert syndrome 2
- c.*93T>C Single submitter Joubert syndrome 2
- p.Ala140Val Single submitter Inborn genetic diseases ⚠
- p.Ala94Val Single submitter Joubert syndrome 2 ⚠
- p.Arg11= Single submitter Joubert syndrome
- p.Arg115Gly Single submitter ⚠
- p.Arg144Lys Single submitter Joubert syndrome ⚠
- p.Arg14Gly Single submitter Joubert syndrome ⚠
- p.Arg14Trp Single submitter Joubert syndrome ⚠
- p.Arg73Ser Single submitter ⚠
- p.Arg85Gln Single submitter Joubert syndrome ⚠
- p.Glu70Asp Single submitter Inborn genetic diseases ⚠
- p.Gly5Val Single submitter Joubert syndrome ⚠
- p.Gly68Val Single submitter Joubert syndrome ⚠
- p.Ile123Val Single submitter Joubert syndrome ⚠
- p.Ile41Val Single submitter Joubert syndrome ⚠
- p.Leu108Met Single submitter Joubert syndrome ⚠
- p.Leu108Pro Single submitter Joubert syndrome 2 ⚠
- p.Leu114Ile Single submitter Joubert syndrome
- p.Leu116Gln Single submitter Joubert syndrome 2 ⚠
- p.Leu116Pro Single submitter Joubert syndrome ⚠
- p.Leu137Pro Single submitter Joubert syndrome ⚠
- p.Leu23Arg Single submitter ⚠
- p.Leu2Val Single submitter Joubert syndrome ⚠
- p.Leu48Val Single submitter Joubert syndrome ⚠
- p.Leu6Val Single submitter Joubert syndrome ⚠
- p.Leu89Phe Single submitter Joubert syndrome
- p.Leu89Val Single submitter Joubert syndrome
- p.Lys86Arg Single submitter Joubert syndrome ⚠
- p.Met101Leu Single submitter Joubert syndrome ⚠
- p.Met1Lys Single submitter Joubert syndrome
- p.Met1Thr Single submitter Meckel syndrome, type 2
- p.Met1Val Single submitter Joubert syndrome
- p.Met62Ile Single submitter Joubert syndrome ⚠
- p.Phe35Leu Single submitter Joubert syndrome 2 ⚠
- p.Phe75Cys Single submitter Joubert syndrome ⚠
- p.Phe76= Single submitter Joubert syndrome
- p.Phe76Ile Single submitter Joubert syndrome
- p.Ser99Pro Single submitter Joubert syndrome
- p.Thr138Ile Single submitter Joubert syndrome 2
- p.Tyr112Cys Single submitter Joubert syndrome ⚠
- p.Val113Leu Single submitter Joubert syndrome 2 ⚠
- p.Val136Leu Single submitter Joubert syndrome 2 ⚠
- c.137-7T>C No assertion criteria Joubert syndrome 2
- c.137-9del No assertion criteria Joubert syndrome 2
- c.230-9dup No assertion criteria Meckel syndrome, type 2
- c.432-10_432-8delinsAGTG No assertion criteria Meckel syndrome, type 2
- c.432-10delinsAA No assertion criteria Meckel syndrome, type 2
- p.Ala54= No assertion criteria Joubert syndrome 2
- p.Arg115Pro No assertion criteria Joubert syndrome 2 ⚠
- p.Asn27Lys No assertion criteria Joubert syndrome 2 ⚠
- p.Ile119dup No assertion criteria microcephaly
- p.Leu114fs No assertion criteria Joubert syndrome 2
- p.Leu65Ile No assertion criteria Joubert syndrome 2 ⚠
- p.Leu6Met No assertion criteria Joubert syndrome 2 ⚠
- p.Met1fs No assertion criteria Meckel syndrome, type 2
- p.Pro3Ser No assertion criteria Joubert syndrome 2 ⚠
- p.Pro98= No assertion criteria Joubert syndrome 2