PAPSS2 — 409 ClinVar variants

All ClinVar germline PAPSS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 138 flagged for review →

29 Pathogenic · 3 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 5 Conflicting · 41 Benign · 16 Benign/Likely benign · 139 Likely benign · 167 Uncertain significance

Full PAPSS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 138

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 2

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

PAPSS2 p.Gly270Asp Conflicting Single submitter
Inborn genetic diseases
PAPSS2 p.Leu531Pro Conflicting Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type

Predictors lean, ClinVar uncertain 104

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

PAPSS2 p.Ala22Val Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Ala336Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Ala409Thr Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Ala563Thr Uncertain significance Multiple submitters
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Arg101Cys Uncertain significance Multiple submitters
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Arg133Leu Uncertain significance Multiple submitters
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Arg392His Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Arg463Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Arg463Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Arg505Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Arg556Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Gln13Glu Uncertain significance Multiple submitters
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Glu592Ala Uncertain significance Multiple submitters
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Glu594Lys Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Gly114Ala Uncertain significance Multiple submitters
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Gly451Ser Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.His536Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Ile303Val Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Lys403Glu Uncertain significance Multiple submitters
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Lys588Thr Uncertain significance Multiple submitters
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Pro603Ser Uncertain significance Multiple submitters
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Ser68Pro Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Trp452Arg Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Trp462Arg Uncertain significance Multiple submitters
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Tyr560Cys Uncertain significance Multiple submitters
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Tyr65His Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Val237Ile Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Val307Ile Uncertain significance Multiple submitters
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Val372Ala Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Val372Phe Uncertain significance Multiple submitters
PAPSS2 p.Ala139Val Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Ala336Val Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Ala468Thr Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Arg133Cys Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Arg349His Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Arg416Cys Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Arg416His Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Arg585Gln Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Arg82His Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Asn11His Uncertain significance Single submitter
PAPSS2 p.Asn561Lys Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Asn595Asp Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Asp386Gly Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Asp429Gly Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Asp455Glu Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Asp568Glu Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Cys355Ser Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Gln12Arg Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Gln12His Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Gln499His Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Glu137Lys Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Glu183Lys Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Glu262Lys Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Glu473Gln Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Glu592Lys Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Gly295Ser Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Gly368Trp Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Gly373Asp Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Gly374Glu Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Gly537Val Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.His358Gln Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.His360Leu Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.His420Arg Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Ile135Met Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Ile172Thr Uncertain significance Single submitter
PAPSS2 p.Ile178Leu Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Ile297Met Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Ile297Val Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Ile482Val Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Ile514Thr Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Leu305Arg Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Leu323Pro Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Leu376Phe Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Leu398Arg Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Leu460Pro Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Leu89Val Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Met506Val Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Phe147Ser Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Phe580Cys Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Phe600Ser Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Pro230Arg Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Pro442Ala Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Pro442Arg Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Pro442Leu Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Pro448Ser Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Pro487Leu Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Pro519Thr Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Pro525Ala Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Pro596Ser Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Ser319Gly Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Ser542Gly Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Ser92Tyr Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Thr119Ser Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Thr176Ile Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Thr535Ser Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Thr548Asn Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Thr610Arg Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Tyr20Cys Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Tyr339Cys Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Val160Ile Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Val206Ile Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Val475Phe Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Val540Ile Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Val550Leu Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type

Predictors split 32

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

PAPSS2 p.Arg273Gln Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Arg314Trp Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Arg431Cys Uncertain significance Multiple submitters
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Asn17Asp Uncertain significance Multiple submitters
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Asp369Tyr Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Glu10Lys Benign/Likely benign Multiple submitters
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Glu472Lys Uncertain significance Multiple submitters
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Glu497Lys Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Lys529Asn Uncertain significance Multiple submitters
Inborn genetic diseases
PAPSS2 p.Met365Val Uncertain significance Multiple submitters
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Arg328Trp Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Arg349Cys Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Arg432Cys Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Arg437Gly Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Arg591Gln Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Asp112Glu Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Asp179Asn Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Cys355Arg Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Gly317Val Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Gly327Glu Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.His441Leu Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Ile581Leu Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Leu209Ile Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Met363Val Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Met365Ile Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Met601Thr Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Pro151Ser Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Pro572Thr Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Pro93Arg Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Tyr65Cys Uncertain significance Single submitter
spondyloepimetaphyseal dysplasia, PAPSS2 type
PAPSS2 p.Val203Ala Uncertain significance Single submitter
Inborn genetic diseases
PAPSS2 p.Val45Met Uncertain significance Single submitter

All PAPSS2 variants

Pathogenic 29

p.Arg334Ter Multiple submitters autosomal recessive brachyolmia
p.Arg41Ter Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
p.His360fs Multiple submitters PAPSS2-related disorder
p.Tyr492Ter Multiple submitters Inborn genetic diseases
c.1721+2T>C Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.520+1G>A Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.639+1G>T Single submitter
p.Arg129His Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Arg556Ter Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Gln377Ter Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Glu10Ter Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Glu242Ter Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Glu473Ter Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Leu333Ter Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Leu425fs Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Phe228fs Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Ser480Ter Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Thr353fs Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Trp351Ter Single submitter
p.Trp462fs Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Tyr164Ter Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Tyr439Ter Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Val106fs Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Ala113fs No assertion criteria spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Arg437fs No assertion criteria spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Ile221fs No assertion criteria spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Lys161fs No assertion criteria spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Thr48Arg No assertion criteria spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Val206fs No assertion criteria spondyloepimetaphyseal dysplasia, PAPSS2 type

Pathogenic/Likely pathogenic 3

c.640-1G>C Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Arg238Ter Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Tyr74Ter Multiple submitters brachyolmia

Likely pathogenic 9

c.1222+2T>A Single submitter PAPSS2-related disorder
c.639+1G>A Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Arg346Pro Single submitter
p.Asn17fs Single submitter
p.His524fs Single submitter
p.Phe555fs Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Pro442fs Single submitter
p.Pro489del Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Tyr277Ter Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type

Conflicting classifications of pathogenicity 5

c.381+2T>G Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Asp389= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Gly270Asp Single submitter Inborn genetic diseases ⚠
p.Leu531Pro Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Thr610fs Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type

Benign 41

c.1222+96C>T Multiple submitters
c.145+14AT[7] Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
c.1491+100T>G Multiple submitters
c.27+108C>G Multiple submitters
c.27+292C>T Multiple submitters
c.381+20_381+24dup Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
c.381+81G>A Multiple submitters
c.382-41G>A Multiple submitters
c.520+133C>T Multiple submitters
c.520+21C>A Multiple submitters
c.865+117G>A Multiple submitters
c.865+17G>A Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
c.865+92A>G Multiple submitters
c.881-34C>G Multiple submitters
c.-68C>T Multiple submitters
c.*146A>T Multiple submitters
p.Met281Leu Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
c.1086+161T>C Single submitter
c.1087-237G>T Single submitter
c.1222+179T>C Single submitter
c.1222+281T>C Single submitter
c.145+241T>C Single submitter
c.146-97del Single submitter
c.146-97dup Single submitter
c.1491+319G>C Single submitter
c.27+145A>G Single submitter
c.27+18G>A Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.27+206C>T Single submitter
c.381+20_381+24del Single submitter
c.381+4_381+24dup Single submitter
c.382-324A>G Single submitter
c.521-214A>G Single submitter
c.754-6T>C Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.880+252G>A Single submitter
c.881-236A>G Single submitter
c.-98TGC[11] Single submitter
c.-98TGC[9] Single submitter
c.*146_*147insT Single submitter
p.Ala468Val Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.His467= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Ser92= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type

Benign/Likely benign 16

c.145+14AT[10] Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
c.145+14AT[6] Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
c.145+14AT[8] Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
c.381+21_381+24dup Multiple submitters
c.381+23_381+24dup Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
c.381+24del Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
c.381+24dup Multiple submitters
c.753+4A>C Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Asp159= Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Glu10Lys Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.His204= Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Leu287= Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Leu89= Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Phe125= Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Val296Met Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
c.381+21_381+24del No assertion criteria

Likely benign 139

c.145+14AT[11] Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
c.381+10_381+24dup Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
c.381+12_381+24dup Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
c.381+13_381+24dup Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
c.381+14_381+24dup Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
c.381+22_381+24dup Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
c.381+23_381+24del Multiple submitters
c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAAAAA Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
c.381+7_381+24dup Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
c.382-12A>G Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Asp335= Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Leu278= Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Pro519= Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
c.1222+8A>T Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.1223-131C>A Single submitter
c.1223-14C>T Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.146-15A>G Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.1492-10C>T Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.1492-14T>C Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.1492-7T>G Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.1721+16A>G Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.1722-11C>T Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.1722-16T>G Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.1722-201G>A Single submitter
c.1722-7_1722-6delinsTG Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.1722-7G>T Single submitter
c.27+14C>A Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.27+16C>T Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.28-10T>C Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.28-14G>C Single submitter
c.381+11_381+24dup Single submitter
c.381+15_381+24dup Single submitter
c.381+17_381+24dup Single submitter
c.381+18_381+24del Single submitter
c.381+18_381+24dup Single submitter
c.381+19_381+24del Single submitter
c.381+19_381+24dup Single submitter
c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAA Single submitter
c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAA Single submitter
c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAAA Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAAAA Single submitter
c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAAAAAA Single submitter
c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA Single submitter
c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA Single submitter
c.381+24_381+25insAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAA Single submitter
c.381+3_381+24dup Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.381+5_381+24dup Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.381+8_381+24dup Single submitter
c.381+9_381+24dup Single submitter
c.382-8C>A Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.520+10T>C Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.520+20G>A Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.521-13A>G Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.639+11C>A Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.639+11C>T Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.639+12G>A Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.639+15T>C Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.639+7G>A Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.640-17A>G Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.754-11G>A Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.754-5T>G Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.865+10T>C Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.865+17G>T Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.866-16G>A Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.866-16G>T Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.866-315A>G Single submitter
c.880+10T>C Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.881-10C>T Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.881-18A>T Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.881-19_881-18insTT Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.881-70A>G Single submitter
c.881-7T>C Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.-98TGC[12] Single submitter
c.*147dup Single submitter
c.*148T>A Single submitter
p.Ala241= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Ala409= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Ala468= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Ala484= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Ala508= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Ala590= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Arg190Cys Single submitter Inborn genetic diseases
p.Arg328= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Arg329= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Arg334Gln Single submitter Inborn genetic diseases
p.Asp201= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Asp235= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Asp456= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Asp598= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Gly295= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Gly327= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Gly368= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Gly450= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Gly521= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Gly599= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.His204Gln Single submitter Inborn genetic diseases
p.His225= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.His236= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.His236Gln Single submitter Inborn genetic diseases
p.His423= Single submitter
p.His536= Single submitter
p.Leu227= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Leu305= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Leu315= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Leu379= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Leu393= Single submitter
p.Leu471= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Leu547= Single submitter
p.Leu589= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Lys184= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Lys465= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Lys565= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Phe283= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Phe321= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Phe413= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Phe569= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Pro267= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Pro306= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Pro395= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Pro442= Single submitter
p.Pro478= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Pro489= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Pro534= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Pro554= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Pro603= Single submitter
p.Ser261= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Ser504= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Thr285= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Thr44= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Thr481= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Tyr20= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Tyr492= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Tyr513= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Tyr560= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Tyr570= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Val216= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Val330= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Val550= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Val557= Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type

Uncertain significance 167

p.Ala22Val Multiple submitters Inborn genetic diseases ⚠
p.Ala336Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala409Thr Multiple submitters Inborn genetic diseases ⚠
p.Ala563Thr Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Arg101Cys Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Arg133Leu Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Arg273Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg273Trp Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Arg314Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg392His Multiple submitters Inborn genetic diseases ⚠
p.Arg431Cys Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Arg463Gln Multiple submitters Inborn genetic diseases ⚠
p.Arg463Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg505Trp Multiple submitters Inborn genetic diseases ⚠
p.Arg556Gln Multiple submitters Inborn genetic diseases ⚠
p.Asn17Asp Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Asp369Tyr Multiple submitters Inborn genetic diseases ⚠
p.Gln13Glu Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Glu472Lys Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Glu497Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu592Ala Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Glu594Lys Multiple submitters Inborn genetic diseases ⚠
p.Glu617del Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Gly114Ala Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Gly438Asp Multiple submitters Inborn genetic diseases
p.Gly451Ser Multiple submitters Inborn genetic diseases ⚠
p.His536Arg Multiple submitters Inborn genetic diseases ⚠
p.Ile303Val Multiple submitters Inborn genetic diseases ⚠
p.Lys403Glu Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Lys529Asn Multiple submitters Inborn genetic diseases ⚠
p.Lys588Thr Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Met365Val Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Pro603Ser Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Ser68Pro Multiple submitters Inborn genetic diseases ⚠
p.Trp452Arg Multiple submitters Inborn genetic diseases ⚠
p.Trp462Arg Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Tyr560Cys Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Tyr65His Multiple submitters Inborn genetic diseases ⚠
p.Val237Ile Multiple submitters Inborn genetic diseases ⚠
p.Val307Ile Multiple submitters spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Val372Ala Multiple submitters Inborn genetic diseases ⚠
p.Val372Phe Multiple submitters ⚠
c.1491+3G>A Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.1492-3T>C Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.1721+5G>A Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.1722-3C>T Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.1722-9del Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.27+6C>T Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.381+1_381+2insGAAAA Single submitter Fetal anomalies with a likely genetic cause
c.381+3A>G Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.381+3A>T Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.381+4A>G Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.865+4T>C Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.866-1G>A Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
c.880+3A>G Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Ala139Val Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Ala336Val Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Ala468Thr Single submitter Inborn genetic diseases ⚠
p.Arg133Cys Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Arg328Trp Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Arg346Cys Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Arg349Cys Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Arg349His Single submitter Inborn genetic diseases ⚠
p.Arg416Cys Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Arg416His Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Arg432Cys Single submitter Inborn genetic diseases ⚠
p.Arg437Gly Single submitter Inborn genetic diseases ⚠
p.Arg585Gln Single submitter Inborn genetic diseases ⚠
p.Arg591Gln Single submitter Inborn genetic diseases ⚠
p.Arg82His Single submitter Inborn genetic diseases ⚠
p.Asn11His Single submitter ⚠
p.Asn561Lys Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Asn595Asp Single submitter Inborn genetic diseases ⚠
p.Asp112Glu Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Asp179Asn Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Asp386Gly Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Asp429Gly Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Asp455Glu Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Asp568Glu Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Asp611fs Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Cys355Arg Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Cys355Ser Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Gln12Arg Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Gln12His Single submitter Inborn genetic diseases ⚠
p.Gln499His Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Glu137Lys Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Glu183Lys Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Glu262Lys Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Glu473Gln Single submitter Inborn genetic diseases ⚠
p.Glu592Lys Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Glu64Lys Single submitter Inborn genetic diseases
p.Gly295Ser Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Gly317Val Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Gly327Glu Single submitter Inborn genetic diseases ⚠
p.Gly368Trp Single submitter Inborn genetic diseases ⚠
p.Gly373Asp Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Gly374Glu Single submitter Inborn genetic diseases ⚠
p.Gly537Val Single submitter Inborn genetic diseases ⚠
p.His358Gln Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.His360Leu Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.His420Arg Single submitter Inborn genetic diseases ⚠
p.His441Leu Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Ile135Met Single submitter Inborn genetic diseases ⚠
p.Ile172Thr Single submitter ⚠
p.Ile178Leu Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Ile297Met Single submitter Inborn genetic diseases ⚠
p.Ile297Val Single submitter Inborn genetic diseases ⚠
p.Ile482Val Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Ile514Thr Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Ile581Leu Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Ile581Val Single submitter Inborn genetic diseases
p.Leu209Ile Single submitter Inborn genetic diseases ⚠
p.Leu234Pro Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Leu305Arg Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Leu323Pro Single submitter Inborn genetic diseases ⚠
p.Leu376Phe Single submitter Inborn genetic diseases ⚠
p.Leu398Arg Single submitter Inborn genetic diseases ⚠
p.Leu460Pro Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Leu471Phe Single submitter Inborn genetic diseases
p.Leu89Val Single submitter Inborn genetic diseases ⚠
p.Met272Leu Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Met363Val Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Met365Ile Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Met506Val Single submitter Inborn genetic diseases ⚠
p.Met601Thr Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Phe144del Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Phe147Ser Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Phe228Ser Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Phe580Cys Single submitter Inborn genetic diseases ⚠
p.Phe600Ser Single submitter Inborn genetic diseases ⚠
p.Pro151Ser Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Pro230Arg Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Pro442Ala Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Pro442Arg Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Pro442Leu Single submitter Inborn genetic diseases ⚠
p.Pro448Ser Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Pro487Leu Single submitter Inborn genetic diseases ⚠
p.Pro519Thr Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Pro523Leu Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Pro525Ala Single submitter Inborn genetic diseases ⚠
p.Pro534Leu Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Pro545His Single submitter Inborn genetic diseases
p.Pro572Thr Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Pro596Ser Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Pro597fs Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Pro72Ala Single submitter Inborn genetic diseases
p.Pro93Arg Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Ser319Gly Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Ser542Gly Single submitter Inborn genetic diseases ⚠
p.Ser92Tyr Single submitter Inborn genetic diseases ⚠
p.Thr119Ser Single submitter Inborn genetic diseases ⚠
p.Thr176Ile Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Thr535Ser Single submitter Inborn genetic diseases ⚠
p.Thr548Asn Single submitter Inborn genetic diseases ⚠
p.Thr610Arg Single submitter Inborn genetic diseases ⚠
p.Tyr20Cys Single submitter Inborn genetic diseases ⚠
p.Tyr339Cys Single submitter Inborn genetic diseases ⚠
p.Tyr570Cys Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Tyr65Cys Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠
p.Val160Ile Single submitter Inborn genetic diseases ⚠
p.Val203Ala Single submitter Inborn genetic diseases ⚠
p.Val206Ile Single submitter Inborn genetic diseases ⚠
p.Val45Met Single submitter ⚠
p.Val475Phe Single submitter Inborn genetic diseases ⚠
p.Val483del Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type
p.Val540Ile Single submitter Inborn genetic diseases ⚠
p.Val550Leu Single submitter spondyloepimetaphyseal dysplasia, PAPSS2 type ⚠