Sugi Variant

Sugi Variant/CHST14

CHST14 — 411 ClinVar variants

All ClinVar germline CHST14 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 191 flagged for review →

22 Pathogenic · 7 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 15 Conflicting · 3 Benign · 3 Benign/Likely benign · 147 Likely benign · 205 Uncertain significance

Full CHST14 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 191

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 6

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

Predictors lean, ClinVar uncertain 152

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 152

Predictors split 33

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

All CHST14 variants

Pathogenic 22

  • p.Ala30fs Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Arg200fs Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Arg244fs Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Gln106fs Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Gln308Ter Single submitter Ehlers-Danlos syndrome, musculocontractural type 1
  • p.Glu262fs Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Glu61Ter Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Glu67fs Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Lys226fs Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Lys89fs Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Phe190fs Single submitter
  • p.Pro281Leu Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Ser54fs Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Trp162Ter Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Tyr237Ter Single submitter Ehlers-Danlos syndrome, musculocontractural type 1
  • p.Tyr266Ter Single submitter
  • p.Val165fs Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Arg274Pro No assertion criteria Ehlers-Danlos syndrome, musculocontractural type 1
  • p.Cys152fs No assertion criteria Ehlers-Danlos syndrome, musculocontractural type 1
  • p.Cys289Ser No assertion criteria Ehlers-Danlos syndrome, musculocontractural type 1
  • p.Glu334fs No assertion criteria Ehlers-Danlos syndrome, musculocontractural type 1
  • p.Lys69Ter No assertion criteria Ehlers-Danlos syndrome, musculocontractural type 1

Pathogenic/Likely pathogenic 7

  • p.Gln204Ter Multiple submitters Ehlers-Danlos syndrome, musculocontractural type
  • p.Glu262Lys Multiple submitters CHST14-related disorder
  • p.Leu58fs Multiple submitters Ehlers-Danlos syndrome, musculocontractural type
  • p.Ser252fs Multiple submitters Ehlers-Danlos syndrome, musculocontractural type
  • p.Ser53fs Multiple submitters Ehlers-Danlos syndrome, musculocontractural type
  • p.Tyr293Cys Multiple submitters Ehlers-Danlos syndrome, musculocontractural type 1
  • p.Val176fs Multiple submitters Ehlers-Danlos syndrome, musculocontractural type

Likely pathogenic 9

  • p.Arg213Pro Multiple submitters CHST14-related disorder
  • p.Arg320Ter Multiple submitters Cardiovascular phenotype
  • p.Arg231fs Single submitter CHST14-related disorder
  • p.Gly92fs Single submitter
  • p.Leu34fs Single submitter Ehlers-Danlos syndrome, musculocontractural type 1
  • p.Lys208Ter Single submitter CHST14-related disorder
  • p.Phe209Ser Single submitter Ehlers-Danlos syndrome, musculocontractural type 1
  • p.Trp127fs Single submitter CHST14-related disorder
  • p.Val291fs Single submitter Ehlers-Danlos syndrome, musculocontractural type 1

Conflicting classifications of pathogenicity 15

  • p.Ala170Ser Single submitter Cardiovascular phenotype ⚠
  • p.Ala48_Val49insTer Single submitter CHST14-related disorder
  • p.Ala66= Single submitter Cardiovascular phenotype
  • p.Arg20Trp Single submitter Cardiovascular phenotype ⚠
  • p.Arg231Gln Single submitter Ehlers-Danlos syndrome, musculocontractural type ⚠
  • p.Arg314Gln Single submitter Cardiovascular phenotype ⚠
  • p.Arg345fs Single submitter Ehlers-Danlos syndrome, musculocontractural type 1
  • p.Asn307Asp Single submitter Cardiovascular phenotype ⚠
  • p.Asp269= Single submitter Cardiovascular phenotype
  • p.Gly255= Single submitter Cardiovascular phenotype
  • p.Lys156Asn Single submitter CHST14-related disorder ⚠
  • p.Met1Thr Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Pro26= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Val157= Single submitter Cardiovascular phenotype
  • p.Val212Ala Single submitter Cardiovascular phenotype ⚠

Benign 3

Benign/Likely benign 3

  • p.Ala331= Multiple submitters Cardiovascular phenotype
  • p.Arg96= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type
  • p.Pro70= Multiple submitters Cardiovascular phenotype

Likely benign 147

  • p.Ala15= Multiple submitters Cardiovascular phenotype
  • p.Ala30= Multiple submitters Cardiovascular phenotype
  • p.Ala326= Multiple submitters Cardiovascular phenotype
  • p.Ala373= Multiple submitters Cardiovascular phenotype
  • p.Arg105= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type
  • p.Arg179= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type
  • p.Arg244= Multiple submitters Cardiovascular phenotype
  • p.Arg274= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type
  • p.Arg345Gly Multiple submitters Cardiovascular phenotype
  • p.Gln287= Multiple submitters Cardiovascular phenotype
  • p.Glu16= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type
  • p.Glu214= Multiple submitters Cardiovascular phenotype
  • p.Gly238= Multiple submitters Cardiovascular phenotype
  • p.Gly297= Multiple submitters Cardiovascular phenotype
  • p.Gly63= Multiple submitters Cardiovascular phenotype
  • p.Gly85= Multiple submitters Cardiovascular phenotype
  • p.Ile60= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type
  • p.Leu169= Multiple submitters Cardiovascular phenotype
  • p.Leu267= Multiple submitters Cardiovascular phenotype
  • p.Leu45= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type
  • p.Leu6= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type
  • p.Lys354= Multiple submitters Cardiovascular phenotype
  • p.Phe149= Multiple submitters Cardiovascular phenotype
  • p.Pro281= Multiple submitters Cardiovascular phenotype
  • p.Pro316= Multiple submitters Cardiovascular phenotype
  • p.Pro333= Multiple submitters Cardiovascular phenotype
  • p.Pro367= Multiple submitters Cardiovascular phenotype
  • p.Pro37= Multiple submitters Cardiovascular phenotype
  • p.Pro72= Multiple submitters Cardiovascular phenotype
  • p.Pro76= Multiple submitters Cardiovascular phenotype
  • p.Tyr328= Multiple submitters Cardiovascular phenotype
  • p.Val154= Multiple submitters Ehlers-Danlos syndrome, musculocontractural type
  • p.Val282= Multiple submitters Cardiovascular phenotype
  • p.Val51Leu Multiple submitters Ehlers-Danlos syndrome, musculocontractural type
  • c.-185C>T Single submitter
  • c.-27C>G Single submitter
  • c.-534A>G Single submitter
  • c.-5G>A Single submitter
  • c.*46A>T Single submitter
  • p.Ala100Ser Single submitter Cardiovascular phenotype
  • p.Ala115= Single submitter Cardiovascular phenotype
  • p.Ala170= Single submitter Cardiovascular phenotype
  • p.Ala249= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Ala25= Single submitter Cardiovascular phenotype
  • p.Ala290= Single submitter Cardiovascular phenotype
  • p.Ala304= Single submitter Cardiovascular phenotype
  • p.Ala306= Single submitter Cardiovascular phenotype
  • p.Ala32= Single submitter Cardiovascular phenotype
  • p.Ala323Val Single submitter Cardiovascular phenotype
  • p.Ala346= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Ala52= Single submitter Cardiovascular phenotype
  • p.Ala87Val Single submitter Cardiovascular phenotype
  • p.Ala97= Single submitter Cardiovascular phenotype
  • p.Arg111= Single submitter Cardiovascular phenotype
  • p.Arg139= Single submitter Cardiovascular phenotype
  • p.Arg146= Single submitter Cardiovascular phenotype
  • p.Arg200= Single submitter
  • p.Arg218= Single submitter Cardiovascular phenotype
  • p.Arg236= Single submitter Cardiovascular phenotype
  • p.Arg301= Single submitter Cardiovascular phenotype
  • p.Arg329= Single submitter Cardiovascular phenotype
  • p.Arg4= Single submitter Cardiovascular phenotype
  • p.Arg62= Single submitter Cardiovascular phenotype
  • p.Arg78= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Arg84= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Arg96Ser Single submitter Cardiovascular phenotype
  • p.Asn276= Single submitter Cardiovascular phenotype
  • p.Asn307= Single submitter Cardiovascular phenotype
  • p.Asn368= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Asp101= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Asp193= Single submitter Cardiovascular phenotype
  • p.Asp257= Single submitter
  • p.Asp271= Single submitter Cardiovascular phenotype
  • p.Asp350= Single submitter Cardiovascular phenotype
  • p.Asp99= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Gln103= Single submitter Cardiovascular phenotype
  • p.Gln119= Single submitter Cardiovascular phenotype
  • p.Glu217= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Glu61= Single submitter
  • p.Gly171= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Gly250= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Gly33= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Gly35= Single submitter Cardiovascular phenotype
  • p.Gly55= Single submitter Cardiovascular phenotype
  • p.Gly77= Single submitter Cardiovascular phenotype
  • p.Gly92= Single submitter Cardiovascular phenotype
  • p.Gly98= Single submitter Cardiovascular phenotype
  • p.His278= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.His284= Single submitter Cardiovascular phenotype
  • p.His292Arg Single submitter Cardiovascular phenotype
  • p.His318= Single submitter Cardiovascular phenotype
  • p.His337= Single submitter Cardiovascular phenotype
  • p.Ile230= Single submitter Cardiovascular phenotype
  • p.Leu102= Single submitter Cardiovascular phenotype
  • p.Leu113= Single submitter Cardiovascular phenotype
  • p.Leu137= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Leu194= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Leu203= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Leu210= Single submitter Cardiovascular phenotype
  • p.Leu219= Single submitter Cardiovascular phenotype
  • p.Leu310= Single submitter Cardiovascular phenotype
  • p.Leu340= Single submitter Cardiovascular phenotype
  • p.Leu366= Single submitter
  • p.Leu39= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Leu58= Single submitter
  • p.Leu71= Single submitter Cardiovascular phenotype
  • p.Leu73= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Lys208= Single submitter Cardiovascular phenotype
  • p.Lys86Thr Single submitter Cardiovascular phenotype
  • p.Phe207= Single submitter Cardiovascular phenotype
  • p.Phe227= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Phe263= Single submitter Cardiovascular phenotype
  • p.Phe321= Single submitter Cardiovascular phenotype
  • p.Phe362= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Phe47= Single submitter Cardiovascular phenotype
  • p.Pro120= Single submitter Cardiovascular phenotype
  • p.Pro126= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Pro130= Single submitter Cardiovascular phenotype
  • p.Pro17= Single submitter Cardiovascular phenotype
  • p.Pro253= Single submitter Cardiovascular phenotype
  • p.Pro261= Single submitter Cardiovascular phenotype
  • p.Pro272= Single submitter Cardiovascular phenotype
  • p.Pro317= Single submitter Cardiovascular phenotype
  • p.Pro344= Single submitter Cardiovascular phenotype
  • p.Pro353= Single submitter Cardiovascular phenotype
  • p.Pro38= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Pro75= Single submitter Cardiovascular phenotype
  • p.Pro90Ser Single submitter Cardiovascular phenotype
  • p.Ser160= Single submitter Cardiovascular phenotype
  • p.Ser186= Single submitter Cardiovascular phenotype
  • p.Ser335= Single submitter
  • p.Ser43= Single submitter
  • p.Thr112= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Thr259= Single submitter Cardiovascular phenotype
  • p.Thr81= Single submitter Cardiovascular phenotype
  • p.Thr81Ala Single submitter Cardiovascular phenotype
  • p.Tyr153= Single submitter Cardiovascular phenotype
  • p.Tyr283= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Tyr299= Single submitter Cardiovascular phenotype
  • p.Val104= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Val143= Single submitter Cardiovascular phenotype
  • p.Val165= Single submitter Cardiovascular phenotype
  • p.Val172= Single submitter Ehlers-Danlos syndrome, musculocontractural type
  • p.Val242= Single submitter Cardiovascular phenotype
  • p.Val296= Single submitter
  • p.Val313= Single submitter Cardiovascular phenotype
  • p.Val351= Single submitter Cardiovascular phenotype

Uncertain significance 205