Sugi Variant

Sugi Variant/GDF6

GDF6 — 485 ClinVar variants

All ClinVar germline GDF6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 222 flagged for review →

1 Pathogenic · 3 Likely pathogenic · 22 Conflicting · 38 Benign · 9 Benign/Likely benign · 146 Likely benign · 266 Uncertain significance

Full GDF6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 222

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 14

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 183

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 183

Predictors split 25

The independent predictors disagree with each other — read with care.

All GDF6 variants

Pathogenic 1

  • p.Tyr444Asn Single submitter multiple synostoses syndrome 4

Likely pathogenic 3

Conflicting classifications of pathogenicity 22

  • c.407-3C>T Single submitter microphthalmia, isolated, with coloboma 6
  • p.306GA[3] Single submitter isolated microphthalmia 4
  • p.Ala108Thr Single submitter Inborn genetic diseases ⚠
  • p.Ala242Gly Single submitter Inborn genetic diseases ⚠
  • p.Ala249Glu Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Ala319= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Ala435Val Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Asp57His Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Asp73Glu Single submitter Inborn genetic diseases ⚠
  • p.Glu301Gly Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Glu84Lys Single submitter Inborn genetic diseases ⚠
  • p.Gly38Arg Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Leu289Pro Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Leu8= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Lys424Arg Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Pro179Gln Single submitter isolated microphthalmia 4 ⚠
  • p.Pro209Ser Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Pro257Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro272Leu Single submitter Leber congenital amaurosis 17 ⚠
  • p.Pro320Arg Single submitter Inborn genetic diseases ⚠
  • p.Val152Met Single submitter isolated microphthalmia 4 ⚠
  • p.Val6= Single submitter isolated microphthalmia 4

Benign 38

  • c.406+109T>A Multiple submitters
  • c.406+112T>C Multiple submitters
  • c.406+28C>A Multiple submitters
  • c.407-40C>G Multiple submitters
  • c.*1084C>A Multiple submitters Klippel-Feil syndrome 1, autosomal dominant
  • c.*1090G>C Multiple submitters Klippel-Feil syndrome 1, autosomal dominant
  • c.*144G>A Multiple submitters Klippel-Feil syndrome 1, autosomal dominant
  • c.*172A>G Multiple submitters Klippel-Feil syndrome 1, autosomal dominant
  • c.*1978G>A Multiple submitters Klippel-Feil syndrome 1, autosomal dominant
  • c.*2001A>G Multiple submitters Klippel-Feil syndrome 1, autosomal dominant
  • c.*2195C>T Multiple submitters Klippel-Feil syndrome 1, autosomal dominant
  • c.*380A>G Multiple submitters Klippel-Feil syndrome 1, autosomal dominant
  • c.*577A>T Multiple submitters Klippel-Feil syndrome 1, autosomal dominant
  • c.*998G>C Multiple submitters Klippel-Feil syndrome 1, autosomal dominant
  • c.407-10dup Single submitter isolated microphthalmia 4
  • c.*165C>T Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*1671C>T Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*2122C>T Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*2170A>C Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*2216C>T Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*28G>A Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*711G>T Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*767T>C Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*781G>A Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*842T>C Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Ala236Ser Single submitter Leber congenital amaurosis 17
  • p.Ala307= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Ala82Val Single submitter microphthalmia, isolated, with coloboma 6
  • p.Arg234Leu Single submitter isolated microphthalmia 4 ⚠
  • p.Arg332Leu Single submitter Leber congenital amaurosis 17
  • p.Arg341His Single submitter Leber congenital amaurosis 17
  • p.Gln72Arg Single submitter Leber congenital amaurosis 17
  • p.Glu244Asp Single submitter microphthalmia, isolated, with coloboma 6
  • p.Glu292Asp Single submitter Leber congenital amaurosis 17
  • p.Gly42Ala Single submitter Leber congenital amaurosis 17
  • p.Ile402Val Single submitter Leber congenital amaurosis 17
  • p.Pro327His Single submitter microphthalmia, isolated, with coloboma 6
  • p.Ser39Pro Single submitter isolated microphthalmia 4

Benign/Likely benign 9

  • c.407-20A>C Multiple submitters isolated microphthalmia 4
  • c.407-39C>T Multiple submitters
  • p.Gln119Arg Multiple submitters Klippel-Feil syndrome 1, autosomal dominant
  • p.Gln273Lys Multiple submitters isolated microphthalmia 4
  • p.Leu161= Multiple submitters microphthalmia, isolated, with coloboma 6
  • p.Phe290= Multiple submitters Klippel-Feil syndrome 1, autosomal dominant
  • p.Pro85= Multiple submitters Leber congenital amaurosis 17
  • p.Ser284= Multiple submitters Klippel-Feil syndrome 1, autosomal dominant
  • p.Ser312= Multiple submitters Leber congenital amaurosis 17

Likely benign 146

  • c.407-5C>T Multiple submitters Klippel-Feil syndrome 1, autosomal dominant
  • p.Ala319Thr Multiple submitters isolated microphthalmia 4
  • p.Arg133= Multiple submitters Leber congenital amaurosis 17
  • p.Arg144= Multiple submitters isolated microphthalmia 4
  • p.Asp411= Multiple submitters Klippel-Feil syndrome 1, autosomal dominant
  • p.Asp434= Multiple submitters microphthalmia, isolated, with coloboma 6
  • p.Glu295= Multiple submitters Klippel-Feil syndrome 1, autosomal dominant
  • p.Pro258= Multiple submitters Klippel-Feil syndrome 1, autosomal dominant
  • p.Pro316= Multiple submitters Leber congenital amaurosis 17
  • p.Pro417= Multiple submitters isolated microphthalmia 4
  • p.Thr336= Multiple submitters isolated microphthalmia 4
  • c.406+11A>G Single submitter microphthalmia, isolated, with coloboma 6
  • c.406+15A>C Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.406+17A>G Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.406+18C>T Single submitter
  • c.406+19G>A Single submitter isolated microphthalmia 4
  • c.406+19G>T Single submitter microphthalmia, isolated, with coloboma 6
  • c.406+7G>A Single submitter Leber congenital amaurosis 17
  • c.407-19A>G Single submitter microphthalmia, isolated, with coloboma 6
  • c.407-300G>A Single submitter
  • c.407-9A>G Single submitter isolated microphthalmia 4
  • c.*271_*272insC Single submitter
  • c.*271_*272insCTC Single submitter
  • c.*271_*272insCTCTC Single submitter
  • c.*271_*272insCTCTCTC Single submitter
  • p.Ala10= Single submitter isolated microphthalmia 4
  • p.Ala164= Single submitter isolated microphthalmia 4
  • p.Ala172= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Ala181= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Ala242= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Ala26Pro Single submitter microphthalmia, isolated, with coloboma 6
  • p.Ala322Thr Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Ala337= Single submitter isolated microphthalmia 4
  • p.Ala374= Single submitter Leber congenital amaurosis 17
  • p.Ala380= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Ala60= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Ala82= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Arg133Lys Single submitter isolated microphthalmia 4
  • p.Arg145= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Arg200= Single submitter isolated microphthalmia 4
  • p.Arg234= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Arg248Ser Single submitter microphthalmia, isolated, with coloboma 6
  • p.Arg331= Single submitter
  • p.Arg332= Single submitter isolated microphthalmia 4
  • p.Arg44= Single submitter Leber congenital amaurosis 17
  • p.Arg455= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Arg455Ser Single submitter isolated microphthalmia 4
  • p.Arg46= Single submitter
  • p.Arg53= Single submitter isolated microphthalmia 4
  • p.Arg56= Single submitter isolated microphthalmia 4
  • p.Arg62= Single submitter isolated microphthalmia 4
  • p.Arg91= Single submitter Leber congenital amaurosis 17
  • p.Asn437= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Asp198= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Asp216= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Cys452= Single submitter
  • p.Gln171= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Gln24= Single submitter Leber congenital amaurosis 17
  • p.Gln25= Single submitter isolated microphthalmia 4
  • p.Gln404= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Glu109= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Glu301= Single submitter Leber congenital amaurosis 17
  • p.Glu48= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Glu84= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Gly112Ala Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Gly178= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Gly182= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Gly243Trp Single submitter isolated microphthalmia 4
  • p.Gly251= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Gly298= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Gly308= Single submitter isolated microphthalmia 4
  • p.Gly318= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Gly385= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Gly42Val Single submitter microphthalmia, isolated, with coloboma 6
  • p.Gly89= Single submitter isolated microphthalmia 4
  • p.His140= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.His346= Single submitter Leber congenital amaurosis 17
  • p.His382= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Ile113= Single submitter Leber congenital amaurosis 17
  • p.Ile372= Single submitter Leber congenital amaurosis 17
  • p.Leu135= Single submitter isolated microphthalmia 4
  • p.Leu143= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Leu17= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Leu195= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Leu202= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Leu278= Single submitter isolated microphthalmia 4
  • p.Leu391= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Leu431= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Leu7= Single submitter isolated microphthalmia 4
  • p.Leu99= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Lys122= Single submitter isolated microphthalmia 4
  • p.Lys287= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Lys344= Single submitter isolated microphthalmia 4
  • p.Lys357= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Lys41= Single submitter Leber congenital amaurosis 17
  • p.Lys424= Single submitter Leber congenital amaurosis 17
  • p.Lys47= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Phe12= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Pro176= Single submitter isolated microphthalmia 4
  • p.Pro183= Single submitter isolated microphthalmia 4
  • p.Pro204= Single submitter Leber congenital amaurosis 17
  • p.Pro209= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Pro21= Single submitter
  • p.Pro225= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Pro252= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Pro255= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Pro305= Single submitter Leber congenital amaurosis 17
  • p.Pro314= Single submitter isolated microphthalmia 4
  • p.Pro320= Single submitter isolated microphthalmia 4
  • p.Pro375= Single submitter Leber congenital amaurosis 17
  • p.Pro416= Single submitter isolated microphthalmia 4
  • p.Pro67= Single submitter isolated microphthalmia 4
  • p.Pro69= Single submitter Leber congenital amaurosis 17
  • p.Pro71= Single submitter Leber congenital amaurosis 17
  • p.Pro75= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Pro86= Single submitter Leber congenital amaurosis 17
  • p.Pro94Arg Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Ser121= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Ser129= Single submitter Leber congenital amaurosis 17
  • p.Ser156= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Ser299= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Ser30= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Ser317= Single submitter Leber congenital amaurosis 17
  • p.Ser33= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Ser34del Single submitter isolated microphthalmia 4
  • p.Ser393= Single submitter Leber congenital amaurosis 17
  • p.Ser414= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Ser418= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Ser451= Single submitter isolated microphthalmia 4
  • p.Ser9= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Thr126= Single submitter Leber congenital amaurosis 17
  • p.Thr201= Single submitter microphthalmia, isolated, with coloboma 6
  • p.Thr398= Single submitter Leber congenital amaurosis 17
  • p.Thr423Asn Single submitter microphthalmia, isolated, with coloboma 6
  • p.Thr426= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Trp237Arg Single submitter isolated microphthalmia 4
  • p.Tyr102= Single submitter Leber congenital amaurosis 17
  • p.Tyr381= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Tyr432= Single submitter Leber congenital amaurosis 17
  • p.Val11= Single submitter isolated microphthalmia 4
  • p.Val131= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Val186= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Val214= Single submitter isolated microphthalmia 4
  • p.Val386= Single submitter Leber congenital amaurosis 17
  • p.Val449= Single submitter isolated microphthalmia 4
  • p.Val92= Single submitter Leber congenital amaurosis 17

Uncertain significance 266

  • c.*268G>C Multiple submitters Klippel-Feil syndrome 1, autosomal dominant
  • c.*273C>T Multiple submitters Klippel-Feil syndrome 1, autosomal dominant
  • c.*274T>C Multiple submitters Klippel-Feil syndrome 1, autosomal dominant
  • p.Ala199Thr Multiple submitters Leber congenital amaurosis 17 ⚠
  • p.Ala199Val Multiple submitters Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Ala242Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Ala247Glu Multiple submitters Inborn genetic diseases ⚠
  • p.Arg248Leu Multiple submitters microphthalmia, isolated, with coloboma 6 ⚠
  • p.Arg250Pro Multiple submitters Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Arg270Gln Multiple submitters Inborn genetic diseases ⚠
  • p.Arg286Cys Multiple submitters Inborn genetic diseases
  • p.Arg286His Multiple submitters Inborn genetic diseases ⚠
  • p.Arg294Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Arg56Cys Multiple submitters microphthalmia, isolated, with coloboma 6 ⚠
  • p.Arg56Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Arg91Pro Multiple submitters Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Asp369Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Gln253His Multiple submitters Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Glu239Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Gly243Val Multiple submitters Inborn genetic diseases ⚠
  • p.Gly436Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Gly61Arg Multiple submitters Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.His185Pro Multiple submitters Inborn genetic diseases ⚠
  • p.Ile14Val Multiple submitters Inborn genetic diseases ⚠
  • p.Ile28Val Multiple submitters Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Leu188Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Met154Val Multiple submitters Leber congenital amaurosis 17 ⚠
  • p.Met293Thr Multiple submitters Inborn genetic diseases ⚠
  • p.Phe338Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro204Arg Multiple submitters Inborn genetic diseases ⚠
  • p.Pro316Thr Multiple submitters Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Pro71Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Pro75Ser Multiple submitters Inborn genetic diseases ⚠
  • p.Pro85Ser Multiple submitters Leber congenital amaurosis 17 ⚠
  • p.Ser139Leu Multiple submitters microphthalmia, isolated, with coloboma 6 ⚠
  • p.Ser262Asn Multiple submitters Inborn genetic diseases ⚠
  • p.Ser429Gly Multiple submitters Inborn genetic diseases ⚠
  • p.Thr126Met Multiple submitters Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Val11Ile Multiple submitters Inborn genetic diseases ⚠
  • p.Val186Leu Multiple submitters Inborn genetic diseases ⚠
  • p.Val361Met Multiple submitters Inborn genetic diseases ⚠
  • p.Val92Met Multiple submitters microphthalmia, isolated, with coloboma 6
  • c.-17G>C Single submitter
  • c.-86C>T Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*1043A>G Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*1055G>A Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*106A>T Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*1083C>T Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*1138G>A Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*1441C>T Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*1781G>C Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*205T>C Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*2189T>C Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*2214C>T Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*2215G>A Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*249G>A Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*271T>C Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*273CT[20] Single submitter
  • c.*276T>C Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*27G>A Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*280T>C Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*288T>A Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*319A>C Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*333G>T Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*405G>A Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*529C>G Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*546G>C Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*58G>A Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*620A>G Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*647C>T Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*653C>A Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*725C>A Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*734T>C Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*868C>T Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*891G>A Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • c.*908G>A Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Ala108Asp Single submitter isolated microphthalmia 4 ⚠
  • p.Ala10Thr Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Ala115Val Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Ala199Pro Single submitter ⚠
  • p.Ala207Thr Single submitter isolated microphthalmia 4 ⚠
  • p.Ala235Thr Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Ala236Val Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Ala242Pro Single submitter Leber congenital amaurosis 17 ⚠
  • p.Ala242Val Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Ala245Thr Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Ala247= Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Ala247Gly Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Ala247Thr Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Ala276Gly Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Ala307Val Single submitter isolated microphthalmia 4 ⚠
  • p.Ala309_Glu310insGlyAla Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Ala77Pro Single submitter isolated microphthalmia 4 ⚠
  • p.Ala82Glu Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Arg167Trp Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Arg234Gln Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Arg248Cys Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Arg270Trp Single submitter isolated microphthalmia 4
  • p.Arg286Leu Single submitter Leber congenital amaurosis 17
  • p.Arg294His Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Arg332Gln Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Arg333Trp Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Arg334Gln Single submitter Leber congenital amaurosis 17 ⚠
  • p.Arg335dup Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Arg335Gly Single submitter Leber congenital amaurosis 17
  • p.Arg44Leu Single submitter isolated microphthalmia 4
  • p.Arg46Cys Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Arg46Leu Single submitter Leber congenital amaurosis 17 ⚠
  • p.Arg53Gln Single submitter isolated microphthalmia 4 ⚠
  • p.Arg62Trp Single submitter isolated microphthalmia 4 ⚠
  • p.Arg70Gln Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Arg76Gln Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Arg76Trp Single submitter Inborn genetic diseases ⚠
  • p.Arg81Gly Single submitter Inborn genetic diseases ⚠
  • p.Arg81Trp Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Asn362Ser Single submitter isolated microphthalmia 4 ⚠
  • p.Asn437Ser Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Asp198Gly Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Asp203Tyr Single submitter isolated microphthalmia 4 ⚠
  • p.Asp216Glu Single submitter ⚠
  • p.Asp216Gly Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Asp2Gly Single submitter Leber congenital amaurosis 17 ⚠
  • p.Asp321Gly Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Asp370Glu Single submitter Leber congenital amaurosis 17 ⚠
  • p.Asp59Glu Single submitter ⚠
  • p.Gln187Arg Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Gln205His Single submitter ⚠
  • p.Gln228His Single submitter Leber congenital amaurosis 17 ⚠
  • p.Gln228Ter Single submitter microphthalmia, isolated, with coloboma 6
  • p.Gln24_Gln25delinsHisTer Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Gln253Arg Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Gln253Leu Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Gln273Arg Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Gln285His Single submitter isolated microphthalmia 4 ⚠
  • p.Gln285Leu Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Glu160Met Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Glu160Ter Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Glu213Ala Single submitter
  • p.Glu239Lys Single submitter isolated microphthalmia 4 ⚠
  • p.Glu295Lys Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Glu310Lys Single submitter Inborn genetic diseases ⚠
  • p.Glu365Ala Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Glu365Gly Single submitter Inborn genetic diseases ⚠
  • p.Glu36Lys Single submitter isolated microphthalmia 4 ⚠
  • p.Glu445Gln Single submitter microphthalmia, isolated, with coloboma 6
  • p.Glu450Lys Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Glu74Ala Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Glu84Gly Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Glu96Gln Single submitter Leber congenital amaurosis 17 ⚠
  • p.Gly134Glu Single submitter isolated microphthalmia 4 ⚠
  • p.Gly163Asp Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Gly163Ser Single submitter Inborn genetic diseases
  • p.Gly182Arg Single submitter isolated microphthalmia 4 ⚠
  • p.Gly206Arg Single submitter isolated microphthalmia 4 ⚠
  • p.Gly211Arg Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Gly211Ser Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Gly251Arg Single submitter ⚠
  • p.Gly266Ser Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Gly308Val Single submitter Leber congenital amaurosis 17 ⚠
  • p.Gly311Arg Single submitter Leber congenital amaurosis 17 ⚠
  • p.Gly311Glu Single submitter isolated microphthalmia 4 ⚠
  • p.Gly367Ala Single submitter Inborn genetic diseases ⚠
  • p.Gly367Ser Single submitter isolated microphthalmia 4 ⚠
  • p.Gly413Ser Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Gly453Ser Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.His140Asp Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.His342Arg Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.His346Tyr Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.His360Gln Single submitter Leber congenital amaurosis 17
  • p.His382Leu Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.His382Tyr Single submitter Leber congenital amaurosis 17
  • p.His95Tyr Single submitter isolated microphthalmia 4 ⚠
  • p.Ile101Phe Single submitter Leber congenital amaurosis 17 ⚠
  • p.Ile101Val Single submitter isolated microphthalmia 4 ⚠
  • p.Ile127Val Single submitter Inborn genetic diseases ⚠
  • p.Ile28Leu Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Ile28Thr Single submitter isolated microphthalmia 4 ⚠
  • p.Ile428Val Single submitter isolated microphthalmia 4 ⚠
  • p.Ile433Met Single submitter isolated microphthalmia 4 ⚠
  • p.Leu111Arg Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Leu138Pro Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Leu143Pro Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Leu161Val Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Leu166_Arg167insLeuValGlyAlaGluLeu Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Leu184Val Single submitter Leber congenital amaurosis 17 ⚠
  • p.Leu192Phe Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Leu202Val Single submitter ⚠
  • p.Leu20Phe Single submitter isolated microphthalmia 4 ⚠
  • p.Leu240Pro Single submitter isolated microphthalmia 4 ⚠
  • p.Leu297Pro Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Lys122Thr Single submitter isolated microphthalmia 4 ⚠
  • p.Lys41Arg Single submitter isolated microphthalmia 4 ⚠
  • p.Lys41Asn Single submitter Inborn genetic diseases ⚠
  • p.Met154Leu Single submitter isolated microphthalmia 4 ⚠
  • p.Met154Thr Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Met410Arg Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Met410Leu Single submitter
  • p.Met43Ile Single submitter Inborn genetic diseases ⚠
  • p.Phe150Ser Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Phe215Leu Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Phe290Leu Single submitter ⚠
  • p.Pro142Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro179Thr Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Pro194His Single submitter isolated microphthalmia 4 ⚠
  • p.Pro204Gln Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Pro204Leu Single submitter isolated microphthalmia 4 ⚠
  • p.Pro208Leu Single submitter Leber congenital amaurosis 17 ⚠
  • p.Pro21Ala Single submitter Klippel-Feil syndrome 1, autosomal dominant
  • p.Pro21Ser Single submitter microphthalmia, isolated, with coloboma 6
  • p.Pro252Arg Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Pro255Gln Single submitter Leber congenital amaurosis 17 ⚠
  • p.Pro255Leu Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Pro256Leu Single submitter isolated microphthalmia 4 ⚠
  • p.Pro257Ser Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Pro258Arg Single submitter isolated microphthalmia 4 ⚠
  • p.Pro271Leu Single submitter ⚠
  • p.Pro305Gln Single submitter isolated microphthalmia 4 ⚠
  • p.Pro305Ser Single submitter Inborn genetic diseases ⚠
  • p.Pro314Leu Single submitter Inborn genetic diseases ⚠
  • p.Pro320Ala Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Pro412Thr Single submitter ⚠
  • p.Pro4Ser Single submitter isolated microphthalmia 4 ⚠
  • p.Pro75Arg Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Pro75Thr Single submitter Leber congenital amaurosis 17 ⚠
  • p.Pro80Leu Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Pro90Ser Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Ser100Pro Single submitter isolated microphthalmia 4 ⚠
  • p.Ser106Ala Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Ser106Pro Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Ser106Thr Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Ser116Arg Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Ser121Phe Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Ser153Asn Single submitter microphthalmia, isolated, with coloboma 6
  • p.Ser153Pro Single submitter isolated microphthalmia 4 ⚠
  • p.Ser193Leu Single submitter Inborn genetic diseases ⚠
  • p.Ser299Leu Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Ser30Phe Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Ser317Leu Single submitter isolated microphthalmia 4 ⚠
  • p.Ser317Pro Single submitter Inborn genetic diseases ⚠
  • p.Ser317Trp Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Ser32Leu Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Ser34Pro Single submitter Leber congenital amaurosis 17 ⚠
  • p.Ser393Leu Single submitter isolated microphthalmia 4 ⚠
  • p.Ser418Asn Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Ser429Arg Single submitter multiple synostoses syndrome 4 ⚠
  • p.Ser9Leu Single submitter isolated microphthalmia 4 ⚠
  • p.Thr282Ser Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Thr405Met Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Thr40Ala Single submitter ⚠
  • p.Thr40Ile Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Thr415Ala Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Thr415Asn Single submitter Inborn genetic diseases ⚠
  • p.Thr415Ile Single submitter microphthalmia, isolated, with coloboma 6
  • p.Thr423Ile Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Trp177Ser Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Tyr102Asp Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Tyr102Cys Single submitter Leber congenital amaurosis 17 ⚠
  • p.Tyr441Cys Single submitter microphthalmia, isolated, with coloboma 6 ⚠
  • p.Val162Ala Single submitter isolated microphthalmia 4 ⚠
  • p.Val162Leu Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Val162Met Single submitter Inborn genetic diseases ⚠
  • p.Val186Met Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Val217Ala Single submitter Klippel-Feil syndrome 1, autosomal dominant ⚠
  • p.Val217Leu Single submitter Leber congenital amaurosis 17
  • p.Ala245Val No assertion criteria GDF6-related disorder ⚠
  • p.Phe363Ile No assertion criteria inherited retinal dystrophy ⚠