Sugi Variant

Sugi Variant/EFEMP2

EFEMP2 — 597 ClinVar variants

All ClinVar germline EFEMP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 225 flagged for review →

25 Pathogenic · 5 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 27 Conflicting · 16 Benign · 10 Benign/Likely benign · 230 Likely benign · 270 Uncertain significance

Full EFEMP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 225

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.

Predictors lean, ClinVar uncertain 164

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 164

Predictors split 54

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

All EFEMP2 variants

Pathogenic 25

  • p.Glu167Ter Multiple submitters Cardiovascular phenotype
  • c.111+1G>A Single submitter
  • c.1170+1G>A Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Ala397Thr Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Arg227Cys Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Arg326Gly Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Arg354fs Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Arg379fs Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Cys127Arg Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Cys287Ter Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Glu324Ter Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Glu57Lys Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Gly112_Tyr113insTer Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Gly231_Tyr232insTer Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Ile392fs Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Pro318fs Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Pro98fs Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Trp15Ter Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Tyr155fs Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Tyr307fs Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Tyr78fs Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Asp359fs No assertion criteria cutis laxa, autosomal recessive, type 1B
  • p.Cys267Tyr No assertion criteria cutis laxa, autosomal recessive, type 1B
  • p.Gln193fs No assertion criteria cutis laxa, autosomal recessive, type 1B
  • p.Glu126Val No assertion criteria cutis laxa, autosomal recessive, type 1B

Pathogenic/Likely pathogenic 5

  • p.Arg337Ter Multiple submitters cutis laxa
  • p.Asp203Ala Multiple submitters EFEMP2-related disorders
  • p.Cys287fs Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Glu126Lys Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Glu161Lys Multiple submitters Autosomal recessive EFEMP2-related disorders ⚠

Likely pathogenic 14

  • p.Arg279Cys Multiple submitters cutis laxa, autosomal recessive, type 1B
  • c.109_111+3del Single submitter cutis laxa, autosomal recessive, type 1B
  • c.1171-2_1195del Single submitter Cardiovascular phenotype
  • c.368-2A>G Single submitter cutis laxa, autosomal recessive, type 1B
  • c.608-1G>C Single submitter cutis laxa, autosomal recessive, type 1B
  • c.608-2A>C Single submitter cutis laxa, autosomal recessive, type 1B
  • c.848-1_849del Single submitter
  • c.848-1_850del Single submitter cutis laxa, autosomal recessive, type 1B
  • c.-7-1_-7delinsAT Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Asn313Ile Single submitter ⚠
  • p.Cys241Ter Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Gly371fs Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Tyr36Ter Single submitter Cardiovascular phenotype
  • p.Tyr155Ser No assertion criteria cutis laxa, autosomal recessive, type 1B

Conflicting classifications of pathogenicity 27

  • c.608-2A>G Single submitter cutis laxa, autosomal recessive, type 1B
  • c.728-3C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.847+14G>A Single submitter cutis laxa, autosomal recessive, type 1B
  • c.975-11G>A Single submitter cutis laxa, autosomal recessive, type 1B
  • c.-113C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.*115G>A Single submitter cutis laxa, autosomal recessive, type 1B
  • c.*282C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Arg326His Single submitter Cardiovascular phenotype ⚠
  • p.Arg83Cys Single submitter Cardiovascular phenotype ⚠
  • p.Asn107= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Cys121= Single submitter Cardiovascular phenotype
  • p.Cys213= Single submitter Cardiovascular phenotype
  • p.Glu261= Single submitter Cardiovascular phenotype
  • p.Gly210Arg Single submitter cutis laxa, autosomal recessive, type 1B ⚠
  • p.His141Leu Single submitter Cardiovascular phenotype ⚠
  • p.His292Tyr Single submitter cutis laxa, autosomal recessive, type 1B ⚠
  • p.Ile259Val Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Leu21= Single submitter Cardiovascular phenotype
  • p.Pro33= Single submitter Cardiovascular phenotype
  • p.Pro330= Single submitter Cardiovascular phenotype
  • p.Pro9Thr Single submitter Cardiovascular phenotype ⚠
  • p.Ser137Cys Single submitter Cardiovascular phenotype ⚠
  • p.Ser295= Single submitter Cardiovascular phenotype
  • p.Ser396= Single submitter Cardiovascular phenotype
  • p.Thr312Ala Single submitter Cardiovascular phenotype ⚠
  • p.Val316Leu Single submitter Cardiovascular phenotype ⚠
  • p.Val87Ile Single submitter Cardiovascular phenotype ⚠

Benign 16

Benign/Likely benign 10

  • c.161-10C>T Multiple submitters cutis laxa, autosomal recessive, type 1B
  • c.368-11G>A Multiple submitters cutis laxa, autosomal recessive, type 1B
  • c.368-18G>A Multiple submitters cutis laxa, autosomal recessive, type 1B
  • c.368-4G>A Multiple submitters cutis laxa, autosomal recessive, type 1B
  • c.848-16C>T Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Asp46= Multiple submitters Cardiovascular phenotype
  • p.Glu246= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Gly238= Multiple submitters Cardiovascular phenotype
  • p.Gly93Ser Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Pro190= Multiple submitters cutis laxa, autosomal recessive, type 1B

Likely benign 230

  • c.111+17C>G Multiple submitters cutis laxa, autosomal recessive, type 1B
  • c.111+81G>A Multiple submitters
  • c.1170+17C>T Multiple submitters cutis laxa, autosomal recessive, type 1B
  • c.160+121C>G Multiple submitters
  • c.160+17G>A Multiple submitters cutis laxa, autosomal recessive, type 1B
  • c.160+8T>C Multiple submitters cutis laxa, autosomal recessive, type 1B
  • c.161-13C>A Multiple submitters cutis laxa, autosomal recessive, type 1B
  • c.368-5C>T Multiple submitters Cardiovascular phenotype
  • c.490+30C>T Multiple submitters
  • c.490+9A>T Multiple submitters cutis laxa, autosomal recessive, type 1B
  • c.491-15T>C Multiple submitters cutis laxa, autosomal recessive, type 1B
  • c.727+11C>T Multiple submitters cutis laxa, autosomal recessive, type 1B
  • c.974+47G>A Multiple submitters
  • c.975-15C>T Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Ala16= Multiple submitters Cardiovascular phenotype
  • p.Ala291= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Ala365= Multiple submitters Cardiovascular phenotype
  • p.Ala86= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Arg337= Multiple submitters Cardiovascular phenotype
  • p.Arg403= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Asn205= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Asn219= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Asn313= Multiple submitters Cardiovascular phenotype
  • p.Asn333= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Asn394= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Asn56= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Asn89= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Asp116= Multiple submitters Cardiovascular phenotype
  • p.Asp125= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Asp166= Multiple submitters Cardiovascular phenotype
  • p.Asp237= Multiple submitters Cardiovascular phenotype
  • p.Cys177= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Cys247= Multiple submitters Cardiovascular phenotype
  • p.Cys294= Multiple submitters Cardiovascular phenotype
  • p.Cys309= Multiple submitters Cardiovascular phenotype
  • p.Cys315= Multiple submitters Cardiovascular phenotype
  • p.Cys4= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Gln364= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Glu233= Multiple submitters Cardiovascular phenotype
  • p.Glu338= Multiple submitters Cardiovascular phenotype
  • p.Gly10= Multiple submitters Cardiovascular phenotype
  • p.Gly182= Multiple submitters Cardiovascular phenotype
  • p.Gly77= Multiple submitters Cardiovascular phenotype
  • p.His132= Multiple submitters Cardiovascular phenotype
  • p.His141= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.His304= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Ile389= Multiple submitters Cardiovascular phenotype
  • p.Leu17= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Leu18= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Leu194= Multiple submitters Cardiovascular phenotype
  • p.Leu234= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Leu253= Multiple submitters Cardiovascular phenotype
  • p.Leu335= Multiple submitters Cardiovascular phenotype
  • p.Leu401= Multiple submitters Cardiovascular phenotype
  • p.Leu91= Multiple submitters Cardiovascular phenotype
  • p.Phe387= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Pro102= Multiple submitters Cardiovascular phenotype
  • p.Pro111= Multiple submitters Cardiovascular phenotype
  • p.Pro115= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Pro212= Multiple submitters
  • p.Pro270= Multiple submitters Cardiovascular phenotype
  • p.Pro3= Multiple submitters Cardiovascular phenotype
  • p.Pro357= Multiple submitters Cardiovascular phenotype
  • p.Pro47Ser Multiple submitters Cardiovascular phenotype
  • p.Pro9= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Pro97= Multiple submitters Cardiovascular phenotype
  • p.Ser200= Multiple submitters Cardiovascular phenotype
  • p.Ser323= Multiple submitters Cardiovascular phenotype
  • p.Ser342= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Ser352= Multiple submitters Cardiovascular phenotype
  • p.Ser367= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Ser84= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Thr406= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Tyr252= Multiple submitters Cardiovascular phenotype
  • p.Tyr256= Multiple submitters Cardiovascular phenotype
  • p.Tyr411= Multiple submitters cutis laxa, autosomal recessive, type 1B
  • p.Tyr75= Multiple submitters Cardiovascular phenotype
  • c.111+18C>G Single submitter cutis laxa, autosomal recessive, type 1B
  • c.111+18C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.111+19G>A Single submitter cutis laxa, autosomal recessive, type 1B
  • c.111+8C>G Single submitter cutis laxa, autosomal recessive, type 1B
  • c.112-4C>A Single submitter cutis laxa, autosomal recessive, type 1B
  • c.1170+11T>C Single submitter cutis laxa, autosomal recessive, type 1B
  • c.1170+12G>A Single submitter cutis laxa, autosomal recessive, type 1B
  • c.1170+13C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.1171-11C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.1171-14C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.1171-19C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.1171-320G>A Single submitter
  • c.1171-7C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.1171-9G>A Single submitter cutis laxa, autosomal recessive, type 1B
  • c.160+14G>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.160+17G>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.160+20C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.160+7G>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.161-138A>C Single submitter
  • c.161-13C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.161-31C>T Single submitter
  • c.161-6C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.367+13T>C Single submitter cutis laxa, autosomal recessive, type 1B
  • c.367+44C>G Single submitter
  • c.368-13del Single submitter cutis laxa, autosomal recessive, type 1B
  • c.368-16G>A Single submitter cutis laxa, autosomal recessive, type 1B
  • c.368-20C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.490+16A>G Single submitter cutis laxa, autosomal recessive, type 1B
  • c.490+8C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.490+9A>G Single submitter cutis laxa, autosomal recessive, type 1B
  • c.491-138G>A Single submitter
  • c.491-20_491-18del Single submitter cutis laxa, autosomal recessive, type 1B
  • c.491-4C>G Single submitter cutis laxa, autosomal recessive, type 1B
  • c.491-65C>T Single submitter
  • c.491-6C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.607+10G>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.607+14G>A Single submitter cutis laxa, autosomal recessive, type 1B
  • c.607+14G>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.607+18C>A Single submitter cutis laxa, autosomal recessive, type 1B
  • c.607+19A>G Single submitter cutis laxa, autosomal recessive, type 1B
  • c.608-7C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.727+14C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.727+16C>G Single submitter cutis laxa, autosomal recessive, type 1B
  • c.727+20T>C Single submitter cutis laxa, autosomal recessive, type 1B
  • c.727+324TCT[2] Single submitter
  • c.727+7G>A Single submitter cutis laxa, autosomal recessive, type 1B
  • c.727+7G>C Single submitter cutis laxa, autosomal recessive, type 1B
  • c.727+8C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.728-11T>C Single submitter cutis laxa, autosomal recessive, type 1B
  • c.728-336A>G Single submitter
  • c.847+13C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.847+20G>A Single submitter cutis laxa, autosomal recessive, type 1B
  • c.847+9T>C Single submitter cutis laxa, autosomal recessive, type 1B
  • c.848-11C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.848-12C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.848-15T>C Single submitter cutis laxa, autosomal recessive, type 1B
  • c.848-9C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.974+12C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.974+7C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.974+9A>G Single submitter
  • c.975-12C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.975-20C>T Single submitter cutis laxa, autosomal recessive, type 1B
  • c.975-25G>T Single submitter
  • c.975-8G>A Single submitter cutis laxa, autosomal recessive, type 1B
  • c.-8+118C>T Single submitter
  • c.*20C>T Single submitter
  • p.Ala103= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Ala130= Single submitter Cardiovascular phenotype
  • p.Ala211= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Ala380= Single submitter Cardiovascular phenotype
  • p.Ala402= Single submitter Cardiovascular phenotype
  • p.Arg171= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Arg236= Single submitter Cardiovascular phenotype
  • p.Arg264= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Arg279= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Asn197= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Asp119Glu Single submitter Cardiovascular phenotype
  • p.Asp164= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Asp203= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Asp285= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Asp311= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Asp359= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Asp90= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Cys173= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Cys217= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Cys258= Single submitter Cardiovascular phenotype
  • p.Cys336= Single submitter Cardiovascular phenotype
  • p.Gln271= Single submitter Cardiovascular phenotype
  • p.Gln293= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Glu206= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Glu288= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Glu296= Single submitter Cardiovascular phenotype
  • p.Glu416= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Glu68= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Gly191= Single submitter Cardiovascular phenotype
  • p.Gly195= Single submitter Cardiovascular phenotype
  • p.Gly231= Single submitter
  • p.Gly263= Single submitter Cardiovascular phenotype
  • p.Gly272= Single submitter Cardiovascular phenotype
  • p.Gly306= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Gly407= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Gly42= Single submitter Cardiovascular phenotype
  • p.His105= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.His268= Single submitter Cardiovascular phenotype
  • p.His292= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Ile158= Single submitter Cardiovascular phenotype
  • p.Ile244= Single submitter Cardiovascular phenotype
  • p.Ile284= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Ile320= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Ile350= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Ile392= Single submitter Cardiovascular phenotype
  • p.Ile61= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Ile88= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Leu12= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Leu131= Single submitter Cardiovascular phenotype
  • p.Leu180= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Leu2= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Leu20= Single submitter Cardiovascular phenotype
  • p.Leu276= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Leu434= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Phe265= Single submitter Cardiovascular phenotype
  • p.Phe361= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Pro110= Single submitter Cardiovascular phenotype
  • p.Pro152= Single submitter Cardiovascular phenotype
  • p.Pro160= Single submitter Cardiovascular phenotype
  • p.Pro181= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Pro196= Single submitter Cardiovascular phenotype
  • p.Pro404= Single submitter Cardiovascular phenotype
  • p.Pro99= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Ser242= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Ser266Pro Single submitter Cardiovascular phenotype
  • p.Ser355= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Ser383= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Ser422= Single submitter Cardiovascular phenotype
  • p.Ser6= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Thr150= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Thr223= Single submitter Cardiovascular phenotype
  • p.Thr278= Single submitter Cardiovascular phenotype
  • p.Thr406= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Thr419= Single submitter Cardiovascular phenotype
  • p.Thr435= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Thr60= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Tyr147= Single submitter Cardiovascular phenotype
  • p.Tyr221= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Tyr43= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Tyr441= Single submitter Cardiovascular phenotype
  • p.Tyr78= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Val178= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Val204= Single submitter Cardiovascular phenotype
  • p.Val344= Single submitter Cardiovascular phenotype
  • p.Val360= Single submitter Cardiovascular phenotype
  • p.Val412= Single submitter cutis laxa, autosomal recessive, type 1B
  • p.Val55= Single submitter cutis laxa, autosomal recessive, type 1B

Uncertain significance 270