CNNM4 — 555 ClinVar variants
All ClinVar germline CNNM4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 248 flagged for review →
31 Pathogenic · 2 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 16 Conflicting · 20 Benign · 4 Benign/Likely benign · 181 Likely benign · 287 Uncertain significance
Full CNNM4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 248
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 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
-
CNNM4 p.His294Tyr
Likely pathogenic
No assertion criteria
inherited retinal dystrophy
Predictors agree, ClinVar conflicts 2
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
CNNM4 p.Arg599His
Conflicting
Single submitter
Inborn genetic diseases
-
CNNM4 p.Asn89Ser
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 154
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 154
-
CNNM4 p.Ala297Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Ala538Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Ala598Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Ala635Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Arg178Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Arg599Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Arg661His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Arg670His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Arg713Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Asn263Ser
Uncertain significance
Multiple submitters
Jalili syndrome
-
CNNM4 p.Asn55Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Asn75Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Cys244Phe
Uncertain significance
Multiple submitters
retinitis pigmentosa
-
CNNM4 p.Cys244Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Gly12Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Gly177Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Gly681Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Ile186Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Ile421Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CNNM4 p.Leu109Phe Uncertain significance Multiple submitters
-
CNNM4 p.Leu135Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Leu169Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Leu21Val
Uncertain significance
Multiple submitters
Jalili syndrome
-
CNNM4 p.Leu90Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Lys425Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Met49Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Met740Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Pro648Ser
Uncertain significance
Multiple submitters
Jalili syndrome
-
CNNM4 p.Trp31Arg
Uncertain significance
Multiple submitters
Jalili syndrome
-
CNNM4 p.Val752Gly
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Ala149Ser
Uncertain significance
Single submitter
Jalili syndrome
-
CNNM4 p.Ala154Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Ala15Ser Uncertain significance Single submitter
- CNNM4 p.Ala208Asp Uncertain significance Single submitter
- CNNM4 p.Ala229Gly Uncertain significance Single submitter
- CNNM4 p.Ala554Thr Uncertain significance Single submitter
- CNNM4 p.Ala554Val Uncertain significance Single submitter
-
CNNM4 p.Ala722Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Ala744Thr Uncertain significance Single submitter
- CNNM4 p.Arg125Gly Uncertain significance Single submitter
-
CNNM4 p.Arg333His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNNM4 p.Arg338Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Arg338Trp Uncertain significance Single submitter
- CNNM4 p.Arg556Cys Uncertain significance Single submitter
- CNNM4 p.Arg556His Uncertain significance Single submitter
-
CNNM4 p.Arg599Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Arg651Gly Uncertain significance Single submitter
-
CNNM4 p.Arg651His
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Arg670Cys Uncertain significance Single submitter
- CNNM4 p.Arg670Gly Uncertain significance Single submitter
- CNNM4 p.Arg701Gln Uncertain significance Single submitter
- CNNM4 p.Arg701Trp Uncertain significance Single submitter
- CNNM4 p.Arg713Gly Uncertain significance Single submitter
- CNNM4 p.Asn250Ser Uncertain significance Single submitter
-
CNNM4 p.Asn263His
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Asn352Lys Uncertain significance Single submitter
-
CNNM4 p.Asn55Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Asp420Glu Uncertain significance Single submitter
- CNNM4 p.Asp433Asn Uncertain significance Single submitter
- CNNM4 p.Asp531Gly Uncertain significance Single submitter
- CNNM4 p.Asp537Ala Uncertain significance Single submitter
- CNNM4 p.Asp539Ala Uncertain significance Single submitter
-
CNNM4 p.Asp610Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Asp650Asn Uncertain significance Single submitter
- CNNM4 p.Cys108Ser Uncertain significance Single submitter
- CNNM4 p.Cys435Tyr Uncertain significance Single submitter
- CNNM4 p.Gln155Arg Uncertain significance Single submitter
-
CNNM4 p.Gln155His
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNNM4 p.Gln38Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNNM4 p.Gln693His
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Glu143Asp Uncertain significance Single submitter
- CNNM4 p.Glu174Val Uncertain significance Single submitter
- CNNM4 p.Glu481Gly Uncertain significance Single submitter
- CNNM4 p.Glu481Lys Uncertain significance Single submitter
-
CNNM4 p.Glu511Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNNM4 p.Glu541Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Glu587Lys Uncertain significance Single submitter
- CNNM4 p.Glu748Asp Uncertain significance Single submitter
-
CNNM4 p.Glu95Gln
Uncertain significance
Single submitter
Jalili syndrome
- CNNM4 p.Glu95Gly Uncertain significance Single submitter
-
CNNM4 p.Gly130Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Gly13Arg Uncertain significance Single submitter
-
CNNM4 p.Gly492Ser
Uncertain significance
Single submitter
Jalili syndrome
- CNNM4 p.Gly692Ser Uncertain significance Single submitter
- CNNM4 p.Gly7Ser Uncertain significance Single submitter
- CNNM4 p.Gly80Cys Uncertain significance Single submitter
-
CNNM4 p.His593Gln
Uncertain significance
Single submitter
Jalili syndrome
- CNNM4 p.His655Tyr Uncertain significance Single submitter
- CNNM4 p.His771Gln Uncertain significance Single submitter
-
CNNM4 p.Ile198Met
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Ile320Val Uncertain significance Single submitter
- CNNM4 p.Ile362Thr Uncertain significance Single submitter
- CNNM4 p.Ile500Met Uncertain significance Single submitter
- CNNM4 p.Ile65Leu Uncertain significance Single submitter
- CNNM4 p.Leu193Gln Uncertain significance Single submitter
-
CNNM4 p.Leu33Val
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Leu368Arg Uncertain significance Single submitter
- CNNM4 p.Leu542Ile Uncertain significance Single submitter
- CNNM4 p.Leu602Pro Uncertain significance Single submitter
- CNNM4 p.Leu691Pro Uncertain significance Single submitter
-
CNNM4 p.Leu766Val
Uncertain significance
Single submitter
Jalili syndrome
-
CNNM4 p.Leu78Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Lys137Asn Uncertain significance Single submitter
- CNNM4 p.Lys162Thr Uncertain significance Single submitter
- CNNM4 p.Lys224Arg Uncertain significance Single submitter
- CNNM4 p.Lys466Asn Uncertain significance Single submitter
-
CNNM4 p.Lys469Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNNM4 p.Lys573Asn
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Met401Thr Uncertain significance Single submitter
- CNNM4 p.Met461Thr Uncertain significance Single submitter
- CNNM4 p.Met642Ile Uncertain significance Single submitter
- CNNM4 p.Met740Thr Uncertain significance Single submitter
-
CNNM4 p.Met740Val
Uncertain significance
Single submitter
Jalili syndrome
-
CNNM4 p.Phe179Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Phe282Leu Uncertain significance Single submitter
-
CNNM4 p.Phe326Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNNM4 p.Phe557Leu
Uncertain significance
Single submitter
Jalili syndrome
-
CNNM4 p.Phe731Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNNM4 p.Pro14Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Pro181Leu Uncertain significance Single submitter
- CNNM4 p.Pro24Leu Uncertain significance Single submitter
-
CNNM4 p.Pro315Leu
Uncertain significance
Single submitter
Jalili syndrome
- CNNM4 p.Pro315Ser Uncertain significance Single submitter
- CNNM4 p.Pro350Ser Uncertain significance Single submitter
- CNNM4 p.Pro3Ala Uncertain significance Single submitter
- CNNM4 p.Pro41Arg Uncertain significance Single submitter
- CNNM4 p.Pro432Ser Uncertain significance Single submitter
- CNNM4 p.Pro548Leu Uncertain significance Single submitter
- CNNM4 p.Pro656Ala Uncertain significance Single submitter
-
CNNM4 p.Pro658Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Pro750Ser Uncertain significance Single submitter
- CNNM4 p.Ser129Thr Uncertain significance Single submitter
-
CNNM4 p.Ser398Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Ser688Thr Uncertain significance Single submitter
- CNNM4 p.Ser69Ala Uncertain significance Single submitter
- CNNM4 p.Thr258Ala Uncertain significance Single submitter
-
CNNM4 p.Thr45Met
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Thr495Ile Uncertain significance Single submitter
-
CNNM4 p.Thr604Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Thr60Arg Uncertain significance Single submitter
- CNNM4 p.Thr671Ile Uncertain significance Single submitter
- CNNM4 p.Thr678Ala Uncertain significance Single submitter
- CNNM4 p.Thr737Pro Uncertain significance Single submitter
- CNNM4 p.Thr757Ala Uncertain significance Single submitter
-
CNNM4 p.Val117Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNNM4 p.Val131Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNNM4 p.Val194Ala
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Val452Leu Uncertain significance Single submitter
- CNNM4 p.Val490Phe Uncertain significance Single submitter
- CNNM4 p.Val673Ile Uncertain significance Single submitter
Predictors split 91
The independent predictors disagree with each other — read with care.
-
CNNM4 p.Ala35Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Arg153Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CNNM4 p.Arg16His Uncertain significance Multiple submitters
-
CNNM4 p.Arg521Trp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Arg523Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Arg605Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Arg651Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Arg661Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Arg724His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Arg762Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Arg77Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Asn122Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Asn85Asp
Uncertain significance
Multiple submitters
Jalili syndrome
-
CNNM4 p.Asp63His
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Gln38Lys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Glu402Gln
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Glu414Val
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Gly158Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Leu304Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Leu323Phe
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Leu438Val
Uncertain significance
Multiple submitters
Jalili syndrome
-
CNNM4 p.Pro159Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Pro567Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Tyr81Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
CNNM4 p.Val752Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- CNNM4 p.Ala554Ser Uncertain significance Single submitter
-
CNNM4 p.Ala598Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNNM4 p.Arg215Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNNM4 p.Arg333Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Arg36Trp Likely benign Single submitter
- CNNM4 p.Arg519Gln Uncertain significance Single submitter
-
CNNM4 p.Arg521Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Arg530Cys Uncertain significance Single submitter
- CNNM4 p.Arg530His Uncertain significance Single submitter
- CNNM4 p.Arg724Cys Uncertain significance Single submitter
- CNNM4 p.Arg762His Uncertain significance Single submitter
- CNNM4 p.Asn395Ser Uncertain significance Single submitter
- CNNM4 p.Asn446Asp Uncertain significance Single submitter
- CNNM4 p.Asn594Ser Uncertain significance Single submitter
- CNNM4 p.Asn594Tyr Uncertain significance Single submitter
- CNNM4 p.Asp114Asn Uncertain significance Single submitter
-
CNNM4 p.Asp157His
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Asp165Ala Uncertain significance Single submitter
- CNNM4 p.Asp167Asn Uncertain significance Single submitter
- CNNM4 p.Asp610Asn Uncertain significance Single submitter
- CNNM4 p.Gln363Arg Uncertain significance Single submitter
- CNNM4 p.Gln38His Uncertain significance Single submitter
- CNNM4 p.Glu223Val Uncertain significance Single submitter
-
CNNM4 p.Glu349Lys
Uncertain significance
Single submitter
Jalili syndrome
- CNNM4 p.Glu483Val Uncertain significance Single submitter
- CNNM4 p.Glu592Lys Uncertain significance Single submitter
-
CNNM4 p.Glu745Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNNM4 p.Glu754Lys
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Glu772Lys Uncertain significance Single submitter
- CNNM4 p.Glu95Val Uncertain significance Single submitter
-
CNNM4 p.Gly12Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Gly5Cys Uncertain significance Single submitter
-
CNNM4 p.Gly71Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNNM4 p.Ile277Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Ile281Val Uncertain significance Single submitter
- CNNM4 p.Ile441Val Uncertain significance Single submitter
- CNNM4 p.Leu161Pro Uncertain significance Single submitter
-
CNNM4 p.Leu438Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Leu706Phe Uncertain significance Single submitter
- CNNM4 p.Lys619Thr Uncertain significance Single submitter
-
CNNM4 p.Met514Thr
Conflicting
Single submitter
Jalili syndrome
- CNNM4 p.Phe590Ile Uncertain significance Single submitter
-
CNNM4 p.Phe590Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
CNNM4 p.Pro10Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Pro176Ala Uncertain significance Single submitter
-
CNNM4 p.Pro3Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Pro608Leu Uncertain significance Single submitter
- CNNM4 p.Ser142Arg Uncertain significance Single submitter
- CNNM4 p.Ser144Ile Uncertain significance Single submitter
- CNNM4 p.Ser274Cys Uncertain significance Single submitter
- CNNM4 p.Ser53Asn Uncertain significance Single submitter
- CNNM4 p.Ser571Ala Uncertain significance Single submitter
- CNNM4 p.Ser646Leu Uncertain significance Single submitter
- CNNM4 p.Ser662Leu Uncertain significance Single submitter
- CNNM4 p.Ser723Phe Uncertain significance Single submitter
- CNNM4 p.Ser88Arg Uncertain significance Single submitter
-
CNNM4 p.Thr106Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Thr255Ala Uncertain significance Single submitter
- CNNM4 p.Thr370Ile Uncertain significance Single submitter
- CNNM4 p.Thr372Asn Uncertain significance Single submitter
- CNNM4 p.Thr516Ala Uncertain significance Single submitter
- CNNM4 p.Thr633Met Uncertain significance Single submitter
- CNNM4 p.Thr641Ser Uncertain significance Single submitter
-
CNNM4 p.Thr675Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- CNNM4 p.Val430Leu Uncertain significance Single submitter
-
CNNM4 p.Glu399Lys
Uncertain significance
No assertion criteria
inherited retinal dystrophy
All CNNM4 variants
Pathogenic 31
- p.Arg519Ter Multiple submitters Jalili syndrome
- p.Arg605Ter Multiple submitters
- p.Gln564Ter Multiple submitters inherited retinal dystrophy
- c.1547-1G>A Single submitter Jalili syndrome
- c.2130+1G>A Single submitter
- p.Ala52fs Single submitter
- p.Asn250fs Single submitter
- p.Asp114fs Single submitter
- p.Asp157fs Single submitter
- p.Asp433fs Single submitter
- p.Gln685fs Single submitter
- p.Glu412Ter Single submitter
- p.Glu587Ter Single submitter
- p.Gly205fs Single submitter
- p.Gly364fs Single submitter
- p.Gly492Asp Single submitter Jalili syndrome
- p.Gly492fs Single submitter
- p.His655fs Single submitter
- p.Leu29fs Single submitter
- p.Leu345Ter Single submitter Jalili syndrome
- p.Met207fs Single submitter
- p.Phe93fs Single submitter
- p.Thr94fs Single submitter
- p.Tyr581Ter Single submitter Jalili syndrome
- p.Tyr716Ter Single submitter
- c.1682-1G>C No assertion criteria Jalili syndrome
- p.Ala22_Met49del No assertion criteria Jalili syndrome
- p.Asp498Glu No assertion criteria Jalili syndrome
- p.Leu324Pro No assertion criteria Jalili syndrome
- p.Ser200Tyr No assertion criteria Jalili syndrome
- p.Val4fs No assertion criteria inherited retinal dystrophy
Pathogenic/Likely pathogenic 2
- p.Gln717Ter Multiple submitters Jalili syndrome
- p.Arg236Gln No assertion criteria Jalili syndrome
Likely pathogenic 14
- c.1948+1G>A Single submitter
- c.1949-1G>C Single submitter
- p.Arg407Leu Single submitter Jalili syndrome
- p.Arg556Pro Single submitter Jalili syndrome
- p.Asn75delinsAlaAlaProTer Single submitter Jalili syndrome
- p.Ile232fs Single submitter Jalili syndrome
- p.Leu438fs Single submitter Jalili syndrome
- p.Ser245Leu Single submitter
- p.Tyr716Cys Single submitter inherited retinal dystrophy
- p.Val475Met Single submitter Jalili syndrome
- p.His294Tyr No assertion criteria inherited retinal dystrophy ⚠
- p.Leu261Pro No assertion criteria Jalili syndrome
- p.Leu316Arg No assertion criteria inherited retinal dystrophy
- p.Tyr423Ter No assertion criteria CNNM4-related disorder
Conflicting classifications of pathogenicity 16
- c.-14A>C Single submitter Jalili syndrome
- p.Arg599His Single submitter Inborn genetic diseases ⚠
- p.Asn718= Single submitter Jalili syndrome
- p.Asn89Ser Single submitter Inborn genetic diseases ⚠
- p.Gly197= Single submitter Jalili syndrome
- p.Ile474= Single submitter Jalili syndrome
- p.Ile500= Single submitter Jalili syndrome
- p.Leu209= Single submitter
- p.Lys137= Single submitter Jalili syndrome
- p.Lys529= Single submitter
- p.Lys607= Single submitter Jalili syndrome
- p.Met514Thr Single submitter Jalili syndrome ⚠
- p.Phe309= Single submitter
- p.Ser652= Single submitter Jalili syndrome
- p.Thr442= Single submitter Jalili syndrome
- p.Thr633= Single submitter Jalili syndrome
Benign 20
- c.1546+136C>G Multiple submitters
- c.1547-155T>C Multiple submitters
- c.1547-16G>A Multiple submitters
- c.*2120C>T Multiple submitters Jalili syndrome
- c.*91C>T Multiple submitters Jalili syndrome
- c.*965A>G Multiple submitters Jalili syndrome
- p.Ser649= Multiple submitters Jalili syndrome
- c.1402+182G>A Single submitter
- c.1402+22del Single submitter
- c.1681+145G>A Single submitter
- c.*1244C>T Single submitter Jalili syndrome
- c.*1482C>T Single submitter Jalili syndrome
- c.*1516C>T Single submitter Jalili syndrome
- c.*1693G>A Single submitter Jalili syndrome
- c.*1990T>A Single submitter Jalili syndrome
- c.*560T>C Single submitter Jalili syndrome
- p.Asp753= Single submitter
- p.Leu195= Single submitter
- p.Leu252= Single submitter
- p.Pro567= Single submitter
Benign/Likely benign 4
- c.1851+9G>A Multiple submitters Jalili syndrome
- p.Met145Thr Multiple submitters Jalili syndrome
- p.Phe487= Multiple submitters Jalili syndrome
- p.Val133= Multiple submitters Jalili syndrome
Likely benign 181
- p.Ala609= Multiple submitters Inborn genetic diseases
- p.Asp498= Multiple submitters
- p.Ser646= Multiple submitters
- c.1402+13G>A Single submitter
- c.1402+19C>A Single submitter
- c.1402+19C>T Single submitter
- c.1402+20C>A Single submitter
- c.1403-12A>G Single submitter
- c.1403-15T>C Single submitter
- c.1403-18T>A Single submitter
- c.1403-8T>C Single submitter
- c.1403-9G>A Single submitter
- c.1546+10G>A Single submitter
- c.1546+22del Single submitter
- c.1547-17C>T Single submitter
- c.1547-6C>T Single submitter
- c.1681+8G>A Single submitter
- c.1682-18_1682-17del Single submitter
- c.1682-9C>G Single submitter
- c.1851+15C>T Single submitter
- c.1851+16C>T Single submitter
- c.1851+17dup Single submitter
- c.1851+8C>T Single submitter
- c.1852-14del Single submitter
- c.1852-15C>T Single submitter
- c.1852-6T>C Single submitter
- c.1948+12G>A Single submitter
- c.1948+8G>C Single submitter
- c.1948+9T>A Single submitter
- c.1949-10C>T Single submitter
- c.1949-13G>T Single submitter
- c.1949-18C>T Single submitter
- c.1949-6C>T Single submitter
- c.1949-7C>A Single submitter
- c.2130+12A>G Single submitter
- c.2131-14C>A Single submitter
- c.2131-14C>T Single submitter
- c.2131-15C>G Single submitter
- c.2131-16T>C Single submitter
- c.2131-18C>T Single submitter
- c.2131-5T>C Single submitter
- c.*1056C>T Single submitter Jalili syndrome
- c.*1974C>T Single submitter Jalili syndrome
- c.*95T>C Single submitter Jalili syndrome
- p.Ala208= Single submitter
- p.Ala23= Single submitter
- p.Ala32= Single submitter
- p.Ala35= Single submitter
- p.Ala390= Single submitter
- p.Ala538= Single submitter
- p.Ala744= Single submitter
- p.Ala99= Single submitter
- p.Arg141= Single submitter
- p.Arg178= Single submitter
- p.Arg293= Single submitter
- p.Arg369= Single submitter
- p.Arg36Trp Single submitter ⚠
- p.Asn219= Single submitter
- p.Asn254= Single submitter
- p.Asn301= Single submitter
- p.Asn480= Single submitter
- p.Asn61= Single submitter
- p.Asn760= Single submitter
- p.Asp353= Single submitter
- p.Asp413= Single submitter
- p.Asp431= Single submitter
- p.Asp510= Single submitter
- p.Asp591= Single submitter
- p.Asp672= Single submitter
- p.Asp734= Single submitter
- p.Asp98= Single submitter
- p.Cys291= Single submitter
- p.Cys435= Single submitter
- p.Gln218= Single submitter
- p.Gln586= Single submitter
- p.Gln715= Single submitter
- p.Gln717= Single submitter
- p.Glu367= Single submitter
- p.Glu374= Single submitter
- p.Glu399= Single submitter
- p.Glu402= Single submitter
- p.Glu463= Single submitter
- p.Glu623= Single submitter
- p.Glu748= Single submitter
- p.Gly484= Single submitter
- p.Gly6= Single submitter
- p.Gly634= Single submitter
- p.Gly735= Single submitter
- p.Gly735_Thr737del Single submitter
- p.His447= Single submitter
- p.His655= Single submitter
- p.His767= Single submitter
- p.His771= Single submitter
- p.Ile216= Single submitter
- p.Ile265= Single submitter
- p.Ile391= Single submitter
- p.Ile46= Single submitter
- p.Ile613= Single submitter
- p.Ile695= Single submitter
- p.Ile709= Single submitter
- p.Ile86= Single submitter
- p.Leu135= Single submitter
- p.Leu150= Single submitter
- p.Leu161= Single submitter
- p.Leu187= Single submitter
- p.Leu193= Single submitter
- p.Leu20= Single submitter
- p.Leu206= Single submitter
- p.Leu246= Single submitter
- p.Leu247= Single submitter
- p.Leu261= Single submitter
- p.Leu264= Single submitter
- p.Leu286= Single submitter
- p.Leu29= Single submitter
- p.Leu341= Single submitter
- p.Leu345= Single submitter
- p.Leu380= Single submitter
- p.Leu496= Single submitter
- p.Leu558= Single submitter
- p.Leu575= Single submitter
- p.Leu578= Single submitter
- p.Leu579= Single submitter
- p.Leu614= Single submitter
- p.Leu616= Single submitter
- p.Leu703= Single submitter
- p.Leu706= Single submitter
- p.Leu83= Single submitter
- p.Lys371= Single submitter
- p.Lys477= Single submitter
- p.Lys589= Single submitter
- p.Lys746= Single submitter
- p.Phe171= Single submitter
- p.Phe179= Single submitter
- p.Phe429= Single submitter
- p.Pro211= Single submitter
- p.Pro234= Single submitter
- p.Pro24= Single submitter
- p.Pro3= Single submitter
- p.Pro315= Single submitter
- p.Pro319= Single submitter
- p.Pro350= Single submitter
- p.Pro409= Single submitter
- p.Pro432= Single submitter
- p.Pro437= Single submitter
- p.Pro448= Single submitter
- p.Pro608= Single submitter
- p.Pro656= Single submitter
- p.Pro750= Single submitter
- p.Ser245= Single submitter
- p.Ser267= Single submitter
- p.Ser275= Single submitter
- p.Ser321= Single submitter
- p.Ser40= Single submitter
- p.Ser416= Single submitter
- p.Ser512= Single submitter
- p.Ser57= Single submitter
- p.Ser637= Single submitter
- p.Ser699= Single submitter
- p.Ser728= Single submitter
- p.Ser764= Single submitter
- p.Thr302= Single submitter
- p.Thr313= Single submitter
- p.Thr334= Single submitter
- p.Thr657= Single submitter
- p.Thr757= Single submitter
- p.Thr94= Single submitter
- p.Tyr423= Single submitter
- p.Tyr488= Single submitter
- p.Tyr581= Single submitter
- p.Tyr597= Single submitter
- p.Tyr611= Single submitter
- p.Tyr639= Single submitter
- p.Tyr79= Single submitter
- p.Val11= Single submitter
- p.Val116= Single submitter
- p.Val134= Single submitter
- p.Val449= Single submitter
- p.Val700= Single submitter
- p.Val704Met Single submitter Inborn genetic diseases
- c.*7G>A No assertion criteria CNNM4-related disorder
- p.Ile265Leu No assertion criteria
Uncertain significance 287
- c.2130+5G>A Multiple submitters Jalili syndrome
- c.*1126G>A Multiple submitters Jalili syndrome
- p.Ala297Gly Multiple submitters Inborn genetic diseases ⚠
- p.Ala35Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala538Val Multiple submitters Inborn genetic diseases ⚠
- p.Ala598Thr Multiple submitters Inborn genetic diseases ⚠
- p.Ala635Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg153Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg16His Multiple submitters ⚠
- p.Arg178Lys Multiple submitters Inborn genetic diseases ⚠
- p.Arg521Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg523Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg599Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg605Gln Multiple submitters Inborn genetic diseases ⚠
- p.Arg651Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg661Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg661His Multiple submitters Inborn genetic diseases ⚠
- p.Arg670His Multiple submitters Inborn genetic diseases ⚠
- p.Arg713Trp Multiple submitters Inborn genetic diseases ⚠
- p.Arg724His Multiple submitters Inborn genetic diseases ⚠
- p.Arg762Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg77Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn122Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn263Ser Multiple submitters Jalili syndrome ⚠
- p.Asn55Ser Multiple submitters Inborn genetic diseases ⚠
- p.Asn75Lys Multiple submitters Inborn genetic diseases ⚠
- p.Asn85Asp Multiple submitters Jalili syndrome ⚠
- p.Asp63His Multiple submitters Inborn genetic diseases ⚠
- p.Cys244Phe Multiple submitters retinitis pigmentosa ⚠
- p.Cys244Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gln38Lys Multiple submitters Inborn genetic diseases ⚠
- p.Glu402Gln Multiple submitters Inborn genetic diseases ⚠
- p.Glu414Val Multiple submitters Inborn genetic diseases ⚠
- p.Gly12Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly158Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly177Arg Multiple submitters Inborn genetic diseases ⚠
- p.Gly681Ser Multiple submitters Inborn genetic diseases ⚠
- p.Ile186Val Multiple submitters Inborn genetic diseases ⚠
- p.Ile421Thr Multiple submitters Inborn genetic diseases ⚠
- p.Leu109Phe Multiple submitters ⚠
- p.Leu135Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu169Gln Multiple submitters Inborn genetic diseases ⚠
- p.Leu21Val Multiple submitters Jalili syndrome ⚠
- p.Leu304Arg Multiple submitters Inborn genetic diseases ⚠
- p.Leu323Phe Multiple submitters Inborn genetic diseases ⚠
- p.Leu438Val Multiple submitters Jalili syndrome ⚠
- p.Leu90Pro Multiple submitters Inborn genetic diseases ⚠
- p.Lys425Thr Multiple submitters Inborn genetic diseases ⚠
- p.Met49Leu Multiple submitters Inborn genetic diseases ⚠
- p.Met740Arg Multiple submitters Inborn genetic diseases ⚠
- p.Pro159Ser Multiple submitters Inborn genetic diseases ⚠
- p.Pro567Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro648Ser Multiple submitters Jalili syndrome ⚠
- p.Trp31Arg Multiple submitters Jalili syndrome ⚠
- p.Tyr81Cys Multiple submitters Inborn genetic diseases ⚠
- p.Val752Gly Multiple submitters Inborn genetic diseases ⚠
- p.Val752Met Multiple submitters Inborn genetic diseases ⚠
- c.1681+4G>C Single submitter
- c.2130+20_2189delinsATG Single submitter
- c.-90C>T Single submitter Jalili syndrome
- c.*1045T>C Single submitter Jalili syndrome
- c.*1059T>C Single submitter Jalili syndrome
- c.*1158C>T Single submitter Jalili syndrome
- c.*1362G>A Single submitter Jalili syndrome
- c.*1430G>A Single submitter Jalili syndrome
- c.*1517G>A Single submitter Jalili syndrome
- c.*1565C>T Single submitter Jalili syndrome
- c.*1754G>A Single submitter Jalili syndrome
- c.*1836C>T Single submitter Jalili syndrome
- c.*189G>T Single submitter Jalili syndrome
- c.*1924G>T Single submitter Jalili syndrome
- c.*1937G>A Single submitter Jalili syndrome
- c.*203del Single submitter
- c.*204G>T Single submitter Jalili syndrome
- c.*2121G>A Single submitter Jalili syndrome
- c.*252G>C Single submitter Jalili syndrome
- c.*286A>T Single submitter Jalili syndrome
- c.*364A>G Single submitter Jalili syndrome
- c.*475C>T Single submitter Jalili syndrome
- c.*479C>T Single submitter Jalili syndrome
- c.*637T>C Single submitter Jalili syndrome
- c.*753G>A Single submitter Jalili syndrome
- c.*924G>A Single submitter Jalili syndrome
- p.25VLL[1] Single submitter
- p.Ala149Ser Single submitter Jalili syndrome ⚠
- p.Ala154Thr Single submitter Inborn genetic diseases ⚠
- p.Ala15Ser Single submitter ⚠
- p.Ala208Asp Single submitter ⚠
- p.Ala229Gly Single submitter ⚠
- p.Ala554Ser Single submitter ⚠
- p.Ala554Thr Single submitter ⚠
- p.Ala554Val Single submitter ⚠
- p.Ala598Gly Single submitter Inborn genetic diseases ⚠
- p.Ala722Pro Single submitter Inborn genetic diseases ⚠
- p.Ala744Thr Single submitter ⚠
- p.Arg125Gly Single submitter ⚠
- p.Arg215Cys Single submitter Inborn genetic diseases ⚠
- p.Arg333His Single submitter Inborn genetic diseases ⚠
- p.Arg333Leu Single submitter Inborn genetic diseases ⚠
- p.Arg338Gly Single submitter Inborn genetic diseases ⚠
- p.Arg338Trp Single submitter ⚠
- p.Arg519Gln Single submitter ⚠
- p.Arg521Gln Single submitter Inborn genetic diseases ⚠
- p.Arg530Cys Single submitter ⚠
- p.Arg530His Single submitter ⚠
- p.Arg556Cys Single submitter ⚠
- p.Arg556His Single submitter ⚠
- p.Arg599Ser Single submitter Inborn genetic diseases ⚠
- p.Arg651Gly Single submitter ⚠
- p.Arg651His Single submitter Inborn genetic diseases ⚠
- p.Arg670Cys Single submitter ⚠
- p.Arg670Gly Single submitter ⚠
- p.Arg701Gln Single submitter ⚠
- p.Arg701Trp Single submitter ⚠
- p.Arg713Gly Single submitter ⚠
- p.Arg724Cys Single submitter ⚠
- p.Arg762His Single submitter ⚠
- p.Asn250Ser Single submitter ⚠
- p.Asn263His Single submitter Inborn genetic diseases ⚠
- p.Asn352Lys Single submitter ⚠
- p.Asn395Ser Single submitter ⚠
- p.Asn446Asp Single submitter ⚠
- p.Asn55Asp Single submitter Inborn genetic diseases ⚠
- p.Asn594Ser Single submitter ⚠
- p.Asn594Tyr Single submitter ⚠
- p.Asp114Asn Single submitter ⚠
- p.Asp157His Single submitter Inborn genetic diseases ⚠
- p.Asp165Ala Single submitter ⚠
- p.Asp167Asn Single submitter ⚠
- p.Asp420Glu Single submitter ⚠
- p.Asp433Asn Single submitter ⚠
- p.Asp513= Single submitter
- p.Asp531Gly Single submitter ⚠
- p.Asp537Ala Single submitter ⚠
- p.Asp539Ala Single submitter ⚠
- p.Asp610Asn Single submitter ⚠
- p.Asp610Glu Single submitter Inborn genetic diseases ⚠
- p.Asp650Asn Single submitter ⚠
- p.Cys108Ser Single submitter ⚠
- p.Cys435Tyr Single submitter ⚠
- p.Gln155Arg Single submitter ⚠
- p.Gln155His Single submitter Inborn genetic diseases ⚠
- p.Gln363Arg Single submitter ⚠
- p.Gln38His Single submitter ⚠
- p.Gln38Leu Single submitter Inborn genetic diseases ⚠
- p.Gln693His Single submitter Inborn genetic diseases ⚠
- p.Glu143Asp Single submitter ⚠
- p.Glu174Val Single submitter ⚠
- p.Glu223Val Single submitter ⚠
- p.Glu349Lys Single submitter Jalili syndrome ⚠
- p.Glu481Gly Single submitter ⚠
- p.Glu481Lys Single submitter ⚠
- p.Glu483Val Single submitter ⚠
- p.Glu511Lys Single submitter Inborn genetic diseases ⚠
- p.Glu541Gln Single submitter Inborn genetic diseases ⚠
- p.Glu587Lys Single submitter ⚠
- p.Glu592Lys Single submitter ⚠
- p.Glu745Lys Single submitter Inborn genetic diseases ⚠
- p.Glu748Asp Single submitter ⚠
- p.Glu754Lys Single submitter Inborn genetic diseases ⚠
- p.Glu772Lys Single submitter ⚠
- p.Glu95Gln Single submitter Jalili syndrome ⚠
- p.Glu95Gly Single submitter ⚠
- p.Glu95Val Single submitter ⚠
- p.Gly12Cys Single submitter Inborn genetic diseases ⚠
- p.Gly130Arg Single submitter Inborn genetic diseases ⚠
- p.Gly13Arg Single submitter ⚠
- p.Gly492Ser Single submitter Jalili syndrome ⚠
- p.Gly5Cys Single submitter ⚠
- p.Gly625= Single submitter
- p.Gly692del Single submitter
- p.Gly692Ser Single submitter ⚠
- p.Gly71Asp Single submitter Inborn genetic diseases ⚠
- p.Gly7Ser Single submitter ⚠
- p.Gly80Cys Single submitter ⚠
- p.His593Gln Single submitter Jalili syndrome ⚠
- p.His655Tyr Single submitter ⚠
- p.His771Gln Single submitter ⚠
- p.Ile198Met Single submitter Inborn genetic diseases ⚠
- p.Ile277Thr Single submitter Inborn genetic diseases ⚠
- p.Ile281Val Single submitter ⚠
- p.Ile320Val Single submitter ⚠
- p.Ile362Thr Single submitter ⚠
- p.Ile441Val Single submitter ⚠
- p.Ile500Met Single submitter ⚠
- p.Ile65Leu Single submitter ⚠
- p.Leu161Pro Single submitter ⚠
- p.Leu193Gln Single submitter ⚠
- p.Leu26= Single submitter Jalili syndrome
- p.Leu33Val Single submitter Inborn genetic diseases ⚠
- p.Leu368Arg Single submitter ⚠
- p.Leu438Ile Single submitter Inborn genetic diseases ⚠
- p.Leu542Ile Single submitter ⚠
- p.Leu602Pro Single submitter ⚠
- p.Leu691Pro Single submitter ⚠
- p.Leu706Phe Single submitter ⚠
- p.Leu766Val Single submitter Jalili syndrome ⚠
- p.Leu78Pro Single submitter Inborn genetic diseases ⚠
- p.Lys137Asn Single submitter ⚠
- p.Lys162Thr Single submitter ⚠
- p.Lys224Arg Single submitter ⚠
- p.Lys466Asn Single submitter ⚠
- p.Lys469Asn Single submitter Inborn genetic diseases ⚠
- p.Lys527del Single submitter
- p.Lys573Asn Single submitter Inborn genetic diseases ⚠
- p.Lys619Thr Single submitter ⚠
- p.Met212_Glu213insMetLeuAspProMet Single submitter Jalili syndrome
- p.Met401Thr Single submitter ⚠
- p.Met461Thr Single submitter ⚠
- p.Met642Ile Single submitter ⚠
- p.Met740Thr Single submitter ⚠
- p.Met740Val Single submitter Jalili syndrome ⚠
- p.Phe179Leu Single submitter Inborn genetic diseases ⚠
- p.Phe282Leu Single submitter ⚠
- p.Phe326Leu Single submitter Inborn genetic diseases ⚠
- p.Phe557Leu Single submitter Jalili syndrome ⚠
- p.Phe590Ile Single submitter ⚠
- p.Phe590Leu Single submitter Inborn genetic diseases ⚠
- p.Phe731Ser Single submitter Inborn genetic diseases ⚠
- p.Pro10_Arg18del Single submitter
- p.Pro10Gln Single submitter Inborn genetic diseases ⚠
- p.Pro14Ala Single submitter Inborn genetic diseases ⚠
- p.Pro176Ala Single submitter ⚠
- p.Pro181Leu Single submitter ⚠
- p.Pro24Leu Single submitter ⚠
- p.Pro315Leu Single submitter Jalili syndrome ⚠
- p.Pro315Ser Single submitter ⚠
- p.Pro350Ser Single submitter ⚠
- p.Pro3Ala Single submitter ⚠
- p.Pro3Leu Single submitter Inborn genetic diseases ⚠
- p.Pro41Arg Single submitter ⚠
- p.Pro432Ser Single submitter ⚠
- p.Pro548Leu Single submitter ⚠
- p.Pro608Leu Single submitter ⚠
- p.Pro656Ala Single submitter ⚠
- p.Pro658Ala Single submitter Inborn genetic diseases ⚠
- p.Pro750Ser Single submitter ⚠
- p.Ser129Thr Single submitter ⚠
- p.Ser142Arg Single submitter ⚠
- p.Ser144Ile Single submitter ⚠
- p.Ser274Cys Single submitter ⚠
- p.Ser398Leu Single submitter Inborn genetic diseases ⚠
- p.Ser506= Single submitter Jalili syndrome
- p.Ser53Asn Single submitter ⚠
- p.Ser571Ala Single submitter ⚠
- p.Ser646Leu Single submitter ⚠
- p.Ser662Leu Single submitter ⚠
- p.Ser688Thr Single submitter ⚠
- p.Ser69Ala Single submitter ⚠
- p.Ser723Phe Single submitter ⚠
- p.Ser88Arg Single submitter ⚠
- p.Ter776Arg Single submitter
- p.Thr106Ile Single submitter Inborn genetic diseases ⚠
- p.Thr255Ala Single submitter ⚠
- p.Thr258Ala Single submitter ⚠
- p.Thr370Ile Single submitter ⚠
- p.Thr372Asn Single submitter ⚠
- p.Thr45= Single submitter Jalili syndrome
- p.Thr45Met Single submitter Inborn genetic diseases ⚠
- p.Thr495Ile Single submitter ⚠
- p.Thr516Ala Single submitter ⚠
- p.Thr604Ala Single submitter Inborn genetic diseases ⚠
- p.Thr60Arg Single submitter ⚠
- p.Thr633Met Single submitter ⚠
- p.Thr641Ser Single submitter ⚠
- p.Thr671Ile Single submitter ⚠
- p.Thr675Ile Single submitter Inborn genetic diseases ⚠
- p.Thr678_Ala680del Single submitter
- p.Thr678Ala Single submitter ⚠
- p.Thr737Pro Single submitter ⚠
- p.Thr757Ala Single submitter ⚠
- p.Trp31_Leu33dup Single submitter
- p.Tyr81= Single submitter Jalili syndrome
- p.Val117Ile Single submitter Inborn genetic diseases ⚠
- p.Val131Leu Single submitter Inborn genetic diseases ⚠
- p.Val194Ala Single submitter Inborn genetic diseases ⚠
- p.Val430Leu Single submitter ⚠
- p.Val452Leu Single submitter ⚠
- p.Val490Phe Single submitter ⚠
- p.Val544= Single submitter
- p.Val673_Thr675del Single submitter
- p.Val673Ile Single submitter ⚠
- p.Val68Leu Single submitter Inborn genetic diseases ⚠
- p.Val700Ile Single submitter ⚠
- p.Val751Leu Single submitter ⚠
- p.Cys151Arg No assertion criteria inherited retinal dystrophy ⚠
- p.Glu399Lys No assertion criteria inherited retinal dystrophy ⚠