PCGF2 — 324 ClinVar variants
All ClinVar germline PCGF2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →
1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 16 Conflicting · 21 Benign · 11 Benign/Likely benign · 125 Likely benign · 148 Uncertain significance
Full PCGF2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 146
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 9
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
-
PCGF2 p.Ala280Val
Conflicting
Single submitter
Inborn genetic diseases
-
PCGF2 p.Arg144Gln
Conflicting
Single submitter
Inborn genetic diseases
- PCGF2 p.Arg144Pro Conflicting Single submitter
-
PCGF2 p.Asn50Ser
Conflicting
Single submitter
Inborn genetic diseases
-
PCGF2 p.Pro342Arg
Conflicting
Single submitter
Inborn genetic diseases
-
PCGF2 p.Pro342His
Conflicting
Single submitter
Inborn genetic diseases
-
PCGF2 p.Ser126Asn
Conflicting
Single submitter
Inborn genetic diseases
-
PCGF2 p.Val241Met
Conflicting
Single submitter
Inborn genetic diseases
-
PCGF2 p.Val32Met
Conflicting
Single submitter
Inborn genetic diseases
Predictors lean, ClinVar uncertain 82
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
PCGF2 p.Arg331Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PCGF2 p.Asp261Asn
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PCGF2 p.Glu246Lys
Uncertain significance
Multiple submitters
PCGF2-related disorder
-
PCGF2 p.Gly315Arg
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PCGF2 p.Pro287Ala
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PCGF2 p.Pro297Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PCGF2 p.Pro303Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PCGF2 p.Pro339Leu
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PCGF2 p.Pro342Ala Uncertain significance Multiple submitters
- PCGF2 p.Val44Met Uncertain significance Multiple submitters
-
PCGF2 p.Ala232Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PCGF2 p.Ala263Val
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.Ala28Ser Uncertain significance Single submitter
-
PCGF2 p.Ala338Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.Arg144Trp Uncertain significance Single submitter
- PCGF2 p.Arg164His Uncertain significance Single submitter
- PCGF2 p.Arg218Gln Uncertain significance Single submitter
- PCGF2 p.Arg218Trp Uncertain significance Single submitter
-
PCGF2 p.Arg219Gln
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.Arg331Gly Uncertain significance Single submitter
-
PCGF2 p.Arg331His
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.Asn111Lys Uncertain significance Single submitter
- PCGF2 p.Asp128Glu Uncertain significance Single submitter
-
PCGF2 p.Asp210Gly
Uncertain significance
Single submitter
turnpenny-fry syndrome
- PCGF2 p.Cys42Tyr Uncertain significance Single submitter
-
PCGF2 p.Cys56Tyr
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.Gln322His Uncertain significance Single submitter
-
PCGF2 p.Glu152Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PCGF2 p.Gly115Cys
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.Gly123Trp Uncertain significance Single submitter
- PCGF2 p.Gly22Trp Uncertain significance Single submitter
- PCGF2 p.Gly252Arg Uncertain significance Single submitter
- PCGF2 p.Gly291Glu Uncertain significance Single submitter
-
PCGF2 p.Gly308Glu
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.Gly315Glu Uncertain significance Single submitter
-
PCGF2 p.Gly316Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.Gly337Ala Uncertain significance Single submitter
-
PCGF2 p.Gly337Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.His176Pro Uncertain significance Single submitter
- PCGF2 p.His290Tyr Uncertain significance Single submitter
-
PCGF2 p.His296Gln
Uncertain significance
Single submitter
Inborn genetic diseases
-
PCGF2 p.Ile43Met
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.Leu125Arg Uncertain significance Single submitter
- PCGF2 p.Leu151Pro Uncertain significance Single submitter
- PCGF2 p.Leu343Phe Uncertain significance Single submitter
- PCGF2 p.Leu35Gln Uncertain significance Single submitter
-
PCGF2 p.Lys122Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PCGF2 p.Lys160Arg
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.Lys160Gln Uncertain significance Single submitter
-
PCGF2 p.Met209Val
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.Pro107Ser Uncertain significance Single submitter
- PCGF2 p.Pro242Leu Uncertain significance Single submitter
- PCGF2 p.Pro282Ala Uncertain significance Single submitter
-
PCGF2 p.Pro297Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
PCGF2 p.Pro297Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.Pro302Thr Uncertain significance Single submitter
- PCGF2 p.Pro303Ala Uncertain significance Single submitter
- PCGF2 p.Pro324Leu Uncertain significance Single submitter
- PCGF2 p.Pro341Ser Uncertain significance Single submitter
-
PCGF2 p.Pro342Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
PCGF2 p.Ser288Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PCGF2 p.Ser288Gly
Uncertain significance
Single submitter
Inborn genetic diseases
-
PCGF2 p.Ser288Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.Ser304Leu Uncertain significance Single submitter
- PCGF2 p.Ser307Gly Uncertain significance Single submitter
- PCGF2 p.Ser317Cys Uncertain significance Single submitter
- PCGF2 p.Ser325Phe Uncertain significance Single submitter
- PCGF2 p.Thr207Asn Uncertain significance Single submitter
- PCGF2 p.Thr237Asn Uncertain significance Single submitter
- PCGF2 p.Thr237Ile Uncertain significance Single submitter
-
PCGF2 p.Thr295Asn
Uncertain significance
Single submitter
Inborn genetic diseases
-
PCGF2 p.Thr298Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.Thr305Arg Uncertain significance Single submitter
- PCGF2 p.Thr305Ile Uncertain significance Single submitter
- PCGF2 p.Thr311Ile Uncertain significance Single submitter
- PCGF2 p.Thr334Asn Uncertain significance Single submitter
-
PCGF2 p.Tyr227Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PCGF2 p.Tyr52His
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.Val163Met Uncertain significance Single submitter
- PCGF2 p.Val174Ile Uncertain significance Single submitter
- PCGF2 p.Val195Ile Uncertain significance Single submitter
-
PCGF2 p.Cys256Tyr
Uncertain significance
No assertion criteria
PCGF2-related disorder
Predictors split 55
The independent predictors disagree with each other — read with care.
-
PCGF2 p.Ala212Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PCGF2 p.Arg114Cys
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
PCGF2 p.Arg182His
Benign/Likely benign
Multiple submitters
Inborn genetic diseases
-
PCGF2 p.Arg235Trp
Likely benign
Multiple submitters
Inborn genetic diseases
-
PCGF2 p.Arg45Cys
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PCGF2 p.Asn220Tyr
Likely benign
Multiple submitters
Inborn genetic diseases
-
PCGF2 p.Glu136Asp
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PCGF2 p.Glu198Lys
Uncertain significance
Multiple submitters
turnpenny-fry syndrome
- PCGF2 p.Glu200Lys Benign/Likely benign Multiple submitters
-
PCGF2 p.Gly115Ser
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
PCGF2 p.Gly221Arg
Uncertain significance
Multiple submitters
turnpenny-fry syndrome
-
PCGF2 p.His2Pro
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PCGF2 p.Met91Val Uncertain significance Multiple submitters
-
PCGF2 p.Pro65Leu
Pathogenic/Likely pathogenic
Multiple submitters
turnpenny-fry syndrome
-
PCGF2 p.Val58Met
Uncertain significance
Multiple submitters
Inborn genetic diseases
- PCGF2 p.Ala170Gly Benign Single submitter
-
PCGF2 p.Ala232Asp
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.Ala99Gly Conflicting Single submitter
- PCGF2 p.Arg182Cys Likely benign Single submitter
-
PCGF2 p.Arg235Gln
Conflicting
Single submitter
Inborn genetic diseases
- PCGF2 p.Arg3Gln Uncertain significance Single submitter
-
PCGF2 p.Arg45His
Conflicting
Single submitter
Inborn genetic diseases
- PCGF2 p.Arg64Gln Uncertain significance Single submitter
- PCGF2 p.Arg6Trp Uncertain significance Single submitter
-
PCGF2 p.Arg94Gln
Conflicting
Single submitter
Inborn genetic diseases
- PCGF2 p.Arg94Trp Likely benign Single submitter
- PCGF2 p.Arg95Trp Likely benign Single submitter
- PCGF2 p.Asn108Ser Uncertain significance Single submitter
- PCGF2 p.Asn336Lys Uncertain significance Single submitter
- PCGF2 p.Asp77Asn Uncertain significance Single submitter
- PCGF2 p.Asp89Glu Uncertain significance Single submitter
-
PCGF2 p.Asp89Gly
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.Glu116Lys Benign Single submitter
- PCGF2 p.Glu136Lys Uncertain significance Single submitter
-
PCGF2 p.Glu255Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PCGF2 p.Gly109Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.Gly115Asp Uncertain significance Single submitter
- PCGF2 p.Leu16Phe Uncertain significance Single submitter
- PCGF2 p.Leu225Ile Uncertain significance Single submitter
- PCGF2 p.Leu225Val Uncertain significance Single submitter
-
PCGF2 p.Lys73Glu
Conflicting
Single submitter
Inborn genetic diseases
- PCGF2 p.Lys92Asn Uncertain significance Single submitter
- PCGF2 p.Lys92Thr Uncertain significance Single submitter
-
PCGF2 p.Met17Ile
Conflicting
Single submitter
Inborn genetic diseases
- PCGF2 p.Phe97Leu Uncertain significance Single submitter
- PCGF2 p.Pro102Ser Uncertain significance Single submitter
- PCGF2 p.Pro231Leu Likely benign Single submitter
-
PCGF2 p.Ser278Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
PCGF2 p.Ser71Phe
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.Thr173Ala Uncertain significance Single submitter
-
PCGF2 p.Thr63Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- PCGF2 p.Val131Leu Uncertain significance Single submitter
- PCGF2 p.Val58Leu Uncertain significance Single submitter
-
PCGF2 p.Val60Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
PCGF2 p.Arg114Gly
Uncertain significance
No assertion criteria
PCGF2-related disorder
All PCGF2 variants
Pathogenic/Likely pathogenic 1
- p.Pro65Leu Multiple submitters turnpenny-fry syndrome ⚠
Likely pathogenic 2
- p.Pro65Ser Multiple submitters turnpenny-fry syndrome
- p.Pro65Arg Single submitter
Conflicting classifications of pathogenicity 16
- c.113-5C>T Single submitter Inborn genetic diseases
- p.Ala280Val Single submitter Inborn genetic diseases ⚠
- p.Ala99Gly Single submitter ⚠
- p.Arg144Gln Single submitter Inborn genetic diseases ⚠
- p.Arg144Pro Single submitter ⚠
- p.Arg235Gln Single submitter Inborn genetic diseases ⚠
- p.Arg45His Single submitter Inborn genetic diseases ⚠
- p.Arg94Gln Single submitter Inborn genetic diseases ⚠
- p.Asn50Ser Single submitter Inborn genetic diseases ⚠
- p.Lys73Glu Single submitter Inborn genetic diseases ⚠
- p.Met17Ile Single submitter Inborn genetic diseases ⚠
- p.Pro342Arg Single submitter Inborn genetic diseases ⚠
- p.Pro342His Single submitter Inborn genetic diseases ⚠
- p.Ser126Asn Single submitter Inborn genetic diseases ⚠
- p.Val241Met Single submitter Inborn genetic diseases ⚠
- p.Val32Met Single submitter Inborn genetic diseases ⚠
Benign 21
- c.112+10G>A Multiple submitters
- c.210-8T>C Multiple submitters
- p.Asp145= Multiple submitters turnpenny-fry syndrome
- c.113-19C>T Single submitter
- c.113-4del Single submitter
- c.209+14G>A Single submitter
- c.210-10T>C Single submitter
- c.576+7C>G Single submitter
- c.658-14dup Single submitter
- c.*1063G>A Single submitter
- c.*9A>T Single submitter
- p.Ala170Gly Single submitter ⚠
- p.Ala253= Single submitter
- p.Ala253Val Single submitter
- p.Asn108= Single submitter
- p.Glu116Lys Single submitter ⚠
- p.Leu118= Single submitter
- p.Leu236Phe Single submitter
- p.Pro242Ser Single submitter
- p.Thr49Ser Single submitter
- p.Tyr138= Single submitter
Benign/Likely benign 11
- c.265+8C>T Multiple submitters
- c.576+15C>T Multiple submitters
- c.657+20G>A Multiple submitters
- p.Ala313Val Multiple submitters Inborn genetic diseases
- p.Arg114Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg182His Multiple submitters Inborn genetic diseases ⚠
- p.Asn111Ser Multiple submitters Inborn genetic diseases
- p.Glu139Lys Multiple submitters Inborn genetic diseases
- p.Glu200Lys Multiple submitters ⚠
- p.Leu238Gln Multiple submitters Inborn genetic diseases
- p.Thr281Pro Multiple submitters
Likely benign 125
- c.209+14G>T Multiple submitters
- c.210-19C>G Multiple submitters
- c.426-9C>T Multiple submitters
- c.-6G>A Multiple submitters
- p.Arg235Trp Multiple submitters Inborn genetic diseases ⚠
- p.Asn220Tyr Multiple submitters Inborn genetic diseases ⚠
- p.Asp27= Multiple submitters
- p.Cys21= Multiple submitters
- p.Pro339= Multiple submitters
- p.Pro65= Multiple submitters
- p.Ser275= Multiple submitters
- p.Val335= Multiple submitters
- p.Val340Met Multiple submitters Inborn genetic diseases
- c.112+13G>T Single submitter
- c.112+16G>A Single submitter
- c.112+3G>A Single submitter
- c.112+9G>T Single submitter
- c.113-14T>C Single submitter
- c.113-20T>C Single submitter
- c.113-22TC[4] Single submitter
- c.113-22TC[6] Single submitter
- c.113-4C>A Single submitter
- c.113-6C>A Single submitter
- c.113-8C>A Single submitter
- c.209+10G>A Single submitter
- c.209+13C>T Single submitter
- c.209+18C>A Single submitter
- c.209+7T>G Single submitter
- c.265+10C>T Single submitter
- c.265+9A>G Single submitter
- c.266-12_266-9dup Single submitter
- c.316+12C>T Single submitter
- c.316+13G>A Single submitter
- c.316+14C>T Single submitter
- c.316+15G>A Single submitter
- c.316+17C>T Single submitter
- c.316+18T>C Single submitter
- c.316+9G>T Single submitter
- c.317-12T>C Single submitter
- c.317-13T>C Single submitter
- c.317-20A>G Single submitter
- c.317-4G>A Single submitter
- c.425+13C>T Single submitter
- c.480+13G>A Single submitter
- c.481-18G>T Single submitter
- c.481-8C>T Single submitter
- c.576+11G>A Single submitter
- c.576+11G>C Single submitter
- c.576+14C>T Single submitter
- c.576+17T>A Single submitter
- c.577-13T>C Single submitter
- c.577-15G>A Single submitter
- c.577-16C>T Single submitter
- c.577-6C>T Single submitter
- c.657+11G>A Single submitter
- c.657+16G>A Single submitter
- c.658-12C>A Single submitter
- p.Ala100= Single submitter
- p.Ala124= Single submitter
- p.Arg114= Single submitter
- p.Arg164= Single submitter
- p.Arg182Cys Single submitter ⚠
- p.Arg94Trp Single submitter ⚠
- p.Arg95Trp Single submitter ⚠
- p.Asn220= Single submitter
- p.Asn314= Single submitter
- p.Asn336= Single submitter
- p.Asp143= Single submitter
- p.Asp155= Single submitter
- p.Asp157= Single submitter
- p.Asp199= Single submitter
- p.Asp210= Single submitter
- p.Asp89= Single submitter
- p.Cys233= Single submitter
- p.Cys42= Single submitter
- p.Glu11= Single submitter
- p.Glu194= Single submitter
- p.Glu246= Single submitter
- p.Glu33= Single submitter
- p.Gly115= Single submitter
- p.Gly156= Single submitter
- p.Gly308Arg Single submitter
- p.Gly315= Single submitter
- p.Gly337= Single submitter
- p.His176= Single submitter
- p.Ile135= Single submitter
- p.Ile211= Single submitter
- p.Ile31= Single submitter
- p.Ile43= Single submitter
- p.Ile9= Single submitter
- p.Leu118Ser Single submitter
- p.Leu16= Single submitter
- p.Leu196= Single submitter
- p.Leu223= Single submitter
- p.Leu236= Single submitter
- p.Leu318= Single submitter
- p.Leu321= Single submitter
- p.Leu82= Single submitter
- p.Lys332= Single submitter
- p.Pro107= Single submitter
- p.Pro224= Single submitter
- p.Pro231Leu Single submitter ⚠
- p.Pro242= Single submitter
- p.Pro264= Single submitter
- p.Pro277= Single submitter
- p.Pro300= Single submitter
- p.Pro342Thr Single submitter
- p.Ser245= Single submitter
- p.Ser251= Single submitter
- p.Ser254= Single submitter
- p.Ser260= Single submitter
- p.Ser304= Single submitter
- p.Thr104= Single submitter
- p.Thr161= Single submitter
- p.Thr173= Single submitter
- p.Thr240= Single submitter
- p.Thr298= Single submitter
- p.Thr30= Single submitter
- p.Thr41= Single submitter
- p.Thr74= Single submitter
- p.Tyr101= Single submitter
- p.Tyr197= Single submitter
- p.Tyr215= Single submitter
- p.Val187= Single submitter
- p.Val229= Single submitter
Uncertain significance 148
- p.Ala212Thr Multiple submitters Inborn genetic diseases ⚠
- p.Arg331Cys Multiple submitters Inborn genetic diseases ⚠
- p.Arg45Cys Multiple submitters Inborn genetic diseases ⚠
- p.Asp261Asn Multiple submitters Inborn genetic diseases ⚠
- p.Glu136Asp Multiple submitters Inborn genetic diseases ⚠
- p.Glu198Lys Multiple submitters turnpenny-fry syndrome ⚠
- p.Glu246Lys Multiple submitters PCGF2-related disorder ⚠
- p.Gly115Ser Multiple submitters Inborn genetic diseases ⚠
- p.Gly221Arg Multiple submitters turnpenny-fry syndrome ⚠
- p.Gly315Arg Multiple submitters Inborn genetic diseases ⚠
- p.His2Pro Multiple submitters Inborn genetic diseases ⚠
- p.Met91Val Multiple submitters ⚠
- p.Pro287Ala Multiple submitters Inborn genetic diseases ⚠
- p.Pro297Thr Multiple submitters Inborn genetic diseases ⚠
- p.Pro303Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro339Leu Multiple submitters Inborn genetic diseases ⚠
- p.Pro342Ala Multiple submitters ⚠
- p.Val44Met Multiple submitters ⚠
- p.Val58Met Multiple submitters Inborn genetic diseases ⚠
- c.265+2T>C Single submitter
- c.316+1G>T Single submitter
- c.316+6T>C Single submitter
- c.426-2A>G Single submitter
- c.426-3C>T Single submitter
- c.426-9C>A Single submitter
- c.480+5G>A Single submitter
- c.481-3C>G Single submitter
- c.657+10C>T Single submitter
- p.Ala232Asp Single submitter Inborn genetic diseases ⚠
- p.Ala232Gly Single submitter Inborn genetic diseases ⚠
- p.Ala263Val Single submitter Inborn genetic diseases ⚠
- p.Ala280fs Single submitter turnpenny-fry syndrome
- p.Ala28Ser Single submitter ⚠
- p.Ala309fs Single submitter
- p.Ala338Thr Single submitter Inborn genetic diseases ⚠
- p.Arg144Trp Single submitter ⚠
- p.Arg164His Single submitter ⚠
- p.Arg167Ter Single submitter
- p.Arg218Gln Single submitter ⚠
- p.Arg218Trp Single submitter ⚠
- p.Arg219Gln Single submitter Inborn genetic diseases ⚠
- p.Arg228Cys Single submitter
- p.Arg331fs Single submitter
- p.Arg331Gly Single submitter ⚠
- p.Arg331His Single submitter Inborn genetic diseases ⚠
- p.Arg3Gln Single submitter ⚠
- p.Arg64Gln Single submitter ⚠
- p.Arg6Trp Single submitter ⚠
- p.Asn108Ser Single submitter ⚠
- p.Asn111Lys Single submitter ⚠
- p.Asn336Lys Single submitter ⚠
- p.Asn50fs Single submitter turnpenny-fry syndrome
- p.Asp128Glu Single submitter ⚠
- p.Asp210Gly Single submitter turnpenny-fry syndrome ⚠
- p.Asp77Asn Single submitter ⚠
- p.Asp89Glu Single submitter ⚠
- p.Asp89Gly Single submitter Inborn genetic diseases ⚠
- p.Cys42Tyr Single submitter ⚠
- p.Cys56Tyr Single submitter Inborn genetic diseases ⚠
- p.Gln322His Single submitter ⚠
- p.Glu121del Single submitter
- p.Glu136Lys Single submitter ⚠
- p.Glu152Lys Single submitter Inborn genetic diseases ⚠
- p.Glu255Lys Single submitter Inborn genetic diseases ⚠
- p.Gly109Ile Single submitter
- p.Gly109Ser Single submitter Inborn genetic diseases ⚠
- p.Gly115Asp Single submitter ⚠
- p.Gly115Cys Single submitter Inborn genetic diseases ⚠
- p.Gly123Trp Single submitter ⚠
- p.Gly22Trp Single submitter ⚠
- p.Gly252Arg Single submitter ⚠
- p.Gly291Glu Single submitter ⚠
- p.Gly308Glu Single submitter Inborn genetic diseases ⚠
- p.Gly315Glu Single submitter ⚠
- p.Gly316Ser Single submitter Inborn genetic diseases ⚠
- p.Gly337Ala Single submitter ⚠
- p.Gly337Ser Single submitter Inborn genetic diseases ⚠
- p.His176Pro Single submitter ⚠
- p.His290Tyr Single submitter ⚠
- p.His296Gln Single submitter Inborn genetic diseases ⚠
- p.Ile43Met Single submitter Inborn genetic diseases ⚠
- p.Leu103fs Single submitter
- p.Leu125Arg Single submitter ⚠
- p.Leu151Pro Single submitter ⚠
- p.Leu16Phe Single submitter ⚠
- p.Leu225Ile Single submitter ⚠
- p.Leu225Val Single submitter ⚠
- p.Leu343Phe Single submitter ⚠
- p.Leu35Gln Single submitter ⚠
- p.Lys122Asn Single submitter Inborn genetic diseases ⚠
- p.Lys148del Single submitter
- p.Lys160Arg Single submitter Inborn genetic diseases ⚠
- p.Lys160Gln Single submitter ⚠
- p.Lys92Asn Single submitter ⚠
- p.Lys92Thr Single submitter ⚠
- p.Met209Val Single submitter Inborn genetic diseases ⚠
- p.Phe97Leu Single submitter ⚠
- p.Pro102Ser Single submitter ⚠
- p.Pro107Ser Single submitter ⚠
- p.Pro242Leu Single submitter ⚠
- p.Pro244_Ser245insAlaThrValProThrPro Single submitter
- p.Pro282Ala Single submitter ⚠
- p.Pro292fs Single submitter
- p.Pro297Arg Single submitter Inborn genetic diseases ⚠
- p.Pro297Leu Single submitter Inborn genetic diseases ⚠
- p.Pro302_Pro303del Single submitter
- p.Pro302Thr Single submitter ⚠
- p.Pro303Ala Single submitter ⚠
- p.Pro324Leu Single submitter ⚠
- p.Pro341Ser Single submitter ⚠
- p.Pro342_Leu343insTer Single submitter turnpenny-fry syndrome
- p.Pro342Leu Single submitter Inborn genetic diseases ⚠
- p.Pro84= Single submitter
- p.Ser278Cys Single submitter Inborn genetic diseases ⚠
- p.Ser288Asn Single submitter Inborn genetic diseases ⚠
- p.Ser288fs Single submitter
- p.Ser288Gly Single submitter Inborn genetic diseases ⚠
- p.Ser288Thr Single submitter Inborn genetic diseases ⚠
- p.Ser304Leu Single submitter ⚠
- p.Ser307Gly Single submitter ⚠
- p.Ser317Cys Single submitter ⚠
- p.Ser325Phe Single submitter ⚠
- p.Ser71Phe Single submitter Inborn genetic diseases ⚠
- p.Thr173Ala Single submitter ⚠
- p.Thr207Asn Single submitter ⚠
- p.Thr237Asn Single submitter ⚠
- p.Thr237Ile Single submitter ⚠
- p.Thr295Asn Single submitter Inborn genetic diseases ⚠
- p.Thr298Ser Single submitter Inborn genetic diseases ⚠
- p.Thr305Arg Single submitter ⚠
- p.Thr305Ile Single submitter ⚠
- p.Thr311Ile Single submitter ⚠
- p.Thr334Asn Single submitter ⚠
- p.Thr63Ile Single submitter Inborn genetic diseases ⚠
- p.Tyr227Cys Single submitter Inborn genetic diseases ⚠
- p.Tyr227Ter Single submitter
- p.Tyr52His Single submitter Inborn genetic diseases ⚠
- p.Val131Leu Single submitter ⚠
- p.Val163fs Single submitter
- p.Val163Met Single submitter ⚠
- p.Val174Ile Single submitter ⚠
- p.Val193= Single submitter
- p.Val195Ile Single submitter ⚠
- p.Val58Leu Single submitter ⚠
- p.Val60Phe Single submitter Inborn genetic diseases ⚠
- p.Arg114Gly No assertion criteria PCGF2-related disorder ⚠
- p.Cys256Tyr No assertion criteria PCGF2-related disorder ⚠
- p.Pro303fs No assertion criteria PCGF2-related disorder