Sugi Variant

Sugi Variant/WDPCP

WDPCP — 761 ClinVar variants

All ClinVar germline WDPCP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 341 flagged for review →

19 Pathogenic · 7 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 48 Conflicting · 10 Benign · 7 Benign/Likely benign · 250 Likely benign · 391 Uncertain significance

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

⚑ Evidence disagreements 341

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 23

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

Predictors lean, ClinVar uncertain 252

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 252

Predictors split 66

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

All WDPCP variants

Pathogenic 19

  • p.Cys185fs Multiple submitters heart defect - tongue hamartoma - polysyndactyly syndrome
  • c.1809_1812+6del Single submitter heart defect - tongue hamartoma - polysyndactyly syndrome
  • p.Ala626fs Single submitter Bardet-Biedl syndrome
  • p.Arg101Ter Single submitter Bardet-Biedl syndrome
  • p.Arg576fs Single submitter Bardet-Biedl syndrome
  • p.Arg600fs Single submitter Bardet-Biedl syndrome
  • p.Asp309fs Single submitter Bardet-Biedl syndrome
  • p.Gln25fs Single submitter Inborn genetic diseases
  • p.Glu400fs Single submitter Bardet-Biedl syndrome
  • p.Glu454Ter Single submitter Bardet-Biedl syndrome
  • p.Glu72fs Single submitter Bardet-Biedl syndrome
  • p.Gly637fs Single submitter Bardet-Biedl syndrome
  • p.Leu474fs Single submitter Bardet-Biedl syndrome
  • p.Ser114fs Single submitter Bardet-Biedl syndrome
  • p.Tyr584fs Single submitter Bardet-Biedl syndrome
  • p.Val448fs Single submitter Bardet-Biedl syndrome
  • c.2078+1G>T No assertion criteria Bardet-Biedl syndrome 15
  • c.76-1G>T No assertion criteria Bardet-Biedl syndrome 15
  • p.Cys240Ter No assertion criteria Bardet-Biedl syndrome 15

Pathogenic/Likely pathogenic 7

  • p.Arg227Ter Multiple submitters WDPCP-related disorder
  • p.Asp171fs Multiple submitters Bardet-Biedl syndrome
  • p.Gln327Ter Multiple submitters Inborn genetic diseases
  • p.Gln451fs Multiple submitters Bardet-Biedl syndrome
  • p.Lys183Ter Multiple submitters Bardet-Biedl syndrome 15
  • p.Trp252Ter Multiple submitters Bardet-Biedl syndrome 15
  • p.Leu176fs No assertion criteria heart defect - tongue hamartoma - polysyndactyly syndrome

Likely pathogenic 29

  • c.633+2T>C Multiple submitters heart defect - tongue hamartoma - polysyndactyly syndrome
  • c.826-1G>A Multiple submitters Bardet-Biedl syndrome
  • p.Arg86Ter Multiple submitters WDPCP-related disorder
  • c.1436-1G>A Single submitter Bardet-Biedl syndrome 15
  • c.1436-1G>C Single submitter Bardet-Biedl syndrome
  • c.161-1G>C Single submitter Bardet-Biedl syndrome
  • c.1748+1G>A Single submitter WDPCP-related disorder
  • c.1813-2A>T Single submitter Bardet-Biedl syndrome
  • c.1915+2del Single submitter Bardet-Biedl syndrome
  • c.1916-2A>G Single submitter Bardet-Biedl syndrome
  • c.2158+1G>A Single submitter WDPCP-related disorder
  • c.253+1G>A Single submitter Bardet-Biedl syndrome
  • c.253+2T>C Single submitter Bardet-Biedl syndrome 15
  • c.633+1G>A Single submitter WDPCP-related disorder
  • c.634-1G>A Single submitter Bardet-Biedl syndrome
  • c.75+1G>T Single submitter Bardet-Biedl syndrome
  • c.825+1G>A Single submitter Bardet-Biedl syndrome
  • p.Arg483Ter Single submitter WDPCP-related disorder
  • p.Gln181Ter Single submitter Bardet-Biedl syndrome 15
  • p.Gln534fs Single submitter WDPCP-related disorder
  • p.Gln534Ter Single submitter Bardet-Biedl syndrome 15
  • p.Gln662Ter Single submitter WDPCP-related disorder
  • p.Gln684fs Single submitter heart defect - tongue hamartoma - polysyndactyly syndrome
  • p.Glu701Ter Single submitter heart defect - tongue hamartoma - polysyndactyly syndrome
  • p.Lys294fs Single submitter heart defect - tongue hamartoma - polysyndactyly syndrome
  • p.Lys99fs Single submitter WDPCP-related disorder
  • p.Met1Ile Single submitter Bardet-Biedl syndrome 15
  • p.Phe131fs Single submitter WDPCP-related disorder
  • p.Ser307fs Single submitter Bardet-Biedl syndrome 15

Conflicting classifications of pathogenicity 48

Benign 10

  • c.1624+24T>A Multiple submitters heart defect - tongue hamartoma - polysyndactyly syndrome
  • c.1915+13G>A Multiple submitters Bardet-Biedl syndrome 15
  • c.1916-6C>T Multiple submitters Bardet-Biedl syndrome
  • c.76-15T>A Multiple submitters Bardet-Biedl syndrome 15
  • c.*195G>A Multiple submitters Bardet-Biedl syndrome 15
  • p.Gly268Ser Multiple submitters Bardet-Biedl syndrome
  • c.1749-12del Single submitter Bardet-Biedl syndrome
  • c.*323A>G Single submitter Bardet-Biedl syndrome 15
  • c.1748+18364T>C No assertion criteria WDPCP-related disorder
  • c.1748+18366G>A No assertion criteria WDPCP-related disorder

Benign/Likely benign 7

Likely benign 250

  • c.1435+12A>G Multiple submitters Bardet-Biedl syndrome
  • c.1435+19T>C Multiple submitters Bardet-Biedl syndrome 15
  • c.161-14C>T Multiple submitters heart defect - tongue hamartoma - polysyndactyly syndrome
  • c.161-4A>G Multiple submitters Bardet-Biedl syndrome
  • c.1625-12T>G Multiple submitters Bardet-Biedl syndrome
  • c.1916-18A>G Multiple submitters Bardet-Biedl syndrome
  • c.2078+19A>C Multiple submitters Bardet-Biedl syndrome
  • c.209-20C>T Multiple submitters Bardet-Biedl syndrome
  • c.254-16_254-15del Multiple submitters Bardet-Biedl syndrome 15
  • c.254-16A>C Multiple submitters Bardet-Biedl syndrome
  • c.325-17T>C Multiple submitters Bardet-Biedl syndrome
  • c.385-12A>G Multiple submitters Bardet-Biedl syndrome
  • c.385-17C>A Multiple submitters Bardet-Biedl syndrome
  • c.499+11C>G Multiple submitters Bardet-Biedl syndrome
  • c.633+17A>T Multiple submitters Bardet-Biedl syndrome
  • c.633+19A>G Multiple submitters Bardet-Biedl syndrome
  • c.634-12T>A Multiple submitters Bardet-Biedl syndrome 15
  • c.75+19G>A Multiple submitters Bardet-Biedl syndrome
  • c.825+19T>G Multiple submitters Bardet-Biedl syndrome 15
  • c.826-13T>C Multiple submitters Bardet-Biedl syndrome
  • c.826-20C>G Multiple submitters Bardet-Biedl syndrome
  • c.826-8C>A Multiple submitters Bardet-Biedl syndrome
  • c.-113C>A Multiple submitters Bardet-Biedl syndrome 15
  • c.*327G>A Multiple submitters Bardet-Biedl syndrome 15
  • p.Ala14= Multiple submitters Bardet-Biedl syndrome
  • p.Ala70= Multiple submitters Bardet-Biedl syndrome
  • p.Asn246= Multiple submitters Bardet-Biedl syndrome
  • p.Asn529= Multiple submitters Bardet-Biedl syndrome
  • p.Asn714= Multiple submitters Bardet-Biedl syndrome
  • p.Asp236= Multiple submitters Bardet-Biedl syndrome
  • p.Asp720= Multiple submitters Bardet-Biedl syndrome
  • p.Asp726= Multiple submitters Bardet-Biedl syndrome
  • p.Glu565= Multiple submitters Bardet-Biedl syndrome
  • p.Gly598Asp Multiple submitters heart defect - tongue hamartoma - polysyndactyly syndrome ⚠
  • p.Gly647= Multiple submitters heart defect - tongue hamartoma - polysyndactyly syndrome
  • p.Leu244= Multiple submitters Bardet-Biedl syndrome
  • p.Leu41= Multiple submitters heart defect - tongue hamartoma - polysyndactyly syndrome
  • p.Leu421Phe Multiple submitters heart defect - tongue hamartoma - polysyndactyly syndrome
  • p.Leu616= Multiple submitters Bardet-Biedl syndrome
  • p.Leu723= Multiple submitters
  • p.Leu92= Multiple submitters Bardet-Biedl syndrome
  • p.Phe577= Multiple submitters Bardet-Biedl syndrome
  • p.Pro144= Multiple submitters Inborn genetic diseases
  • p.Pro218= Multiple submitters Bardet-Biedl syndrome
  • p.Ser103= Multiple submitters Bardet-Biedl syndrome
  • p.Ser11= Multiple submitters Bardet-Biedl syndrome
  • p.Ser305= Multiple submitters Bardet-Biedl syndrome
  • c.1435+18A>T Single submitter Bardet-Biedl syndrome
  • c.1436-14A>G Single submitter Bardet-Biedl syndrome
  • c.1436-18T>G Single submitter Bardet-Biedl syndrome
  • c.1436-5G>A Single submitter Bardet-Biedl syndrome
  • c.160+12C>A Single submitter Bardet-Biedl syndrome
  • c.160+20A>T Single submitter Bardet-Biedl syndrome
  • c.160+9G>C Single submitter Bardet-Biedl syndrome
  • c.161-11C>T Single submitter Bardet-Biedl syndrome
  • c.1624+19T>C Single submitter
  • c.1625-11G>C Single submitter Bardet-Biedl syndrome
  • c.1748+16G>A Single submitter
  • c.1748+17G>A Single submitter Bardet-Biedl syndrome
  • c.1748+18A>G Single submitter Bardet-Biedl syndrome
  • c.1748+20T>C Single submitter Bardet-Biedl syndrome
  • c.1749-19A>G Single submitter Bardet-Biedl syndrome
  • c.1749-21_1749-19del Single submitter Bardet-Biedl syndrome
  • c.1749-4G>T Single submitter Bardet-Biedl syndrome
  • c.1749-5T>G Single submitter Bardet-Biedl syndrome
  • c.1812+19T>G Single submitter Bardet-Biedl syndrome
  • c.1812+20G>A Single submitter Bardet-Biedl syndrome
  • c.1813-11T>C Single submitter Bardet-Biedl syndrome
  • c.1813-5C>G Single submitter Bardet-Biedl syndrome
  • c.1813-5C>T Single submitter Bardet-Biedl syndrome
  • c.1915+11A>G Single submitter Bardet-Biedl syndrome
  • c.1915+29476G>A Single submitter
  • c.1916-14A>T Single submitter Bardet-Biedl syndrome
  • c.1916-21_1916-20del Single submitter Bardet-Biedl syndrome
  • c.2078+11T>G Single submitter Bardet-Biedl syndrome
  • c.2078+13G>T Single submitter Bardet-Biedl syndrome
  • c.2078+18G>A Single submitter Bardet-Biedl syndrome
  • c.2078+8A>G Single submitter Bardet-Biedl syndrome
  • c.2079-8T>C Single submitter Bardet-Biedl syndrome
  • c.2079-9A>T Single submitter Bardet-Biedl syndrome
  • c.208+17G>T Single submitter Bardet-Biedl syndrome
  • c.209-5A>G Single submitter Bardet-Biedl syndrome
  • c.2158+14A>C Single submitter Bardet-Biedl syndrome
  • c.2158+5T>C Single submitter
  • c.2159-20G>A Single submitter Bardet-Biedl syndrome
  • c.2159-20G>T Single submitter Bardet-Biedl syndrome
  • c.2190+15C>A Single submitter Bardet-Biedl syndrome
  • c.2190+8A>G Single submitter Bardet-Biedl syndrome
  • c.2191-4G>T Single submitter Bardet-Biedl syndrome
  • c.253+17T>C Single submitter Bardet-Biedl syndrome
  • c.253+19T>G Single submitter Bardet-Biedl syndrome
  • c.254-14G>A Single submitter Bardet-Biedl syndrome
  • c.254-20G>C Single submitter Bardet-Biedl syndrome
  • c.324+15_324+24del Single submitter Bardet-Biedl syndrome
  • c.325-10T>C Single submitter Bardet-Biedl syndrome
  • c.325-15T>C Single submitter Bardet-Biedl syndrome
  • c.325-20C>G Single submitter Bardet-Biedl syndrome
  • c.325-26CT[3] Single submitter Bardet-Biedl syndrome
  • c.325-5T>C Single submitter Bardet-Biedl syndrome
  • c.384+19C>T Single submitter Bardet-Biedl syndrome
  • c.384+8G>A Single submitter Bardet-Biedl syndrome
  • c.385-11C>T Single submitter Bardet-Biedl syndrome
  • c.385-16A>G Single submitter Bardet-Biedl syndrome
  • c.385-17C>G Single submitter Bardet-Biedl syndrome
  • c.385-17C>T Single submitter Bardet-Biedl syndrome
  • c.385-18C>T Single submitter Bardet-Biedl syndrome
  • c.385-20C>T Single submitter Bardet-Biedl syndrome
  • c.385-7G>C Single submitter Bardet-Biedl syndrome
  • c.500-291T>A Single submitter
  • c.500-322C>T Single submitter
  • c.500-350T>C Single submitter
  • c.633+16T>C Single submitter Bardet-Biedl syndrome
  • c.75+11G>A Single submitter Bardet-Biedl syndrome
  • c.75+14C>G Single submitter Bardet-Biedl syndrome
  • c.75+15G>A Single submitter Bardet-Biedl syndrome
  • c.75+7C>A Single submitter Bardet-Biedl syndrome
  • c.75+7C>T Single submitter
  • c.76-18T>A Single submitter Bardet-Biedl syndrome
  • c.76-19_76-18del Single submitter Bardet-Biedl syndrome
  • c.76-19T>A Single submitter Bardet-Biedl syndrome
  • c.826-10T>C Single submitter Bardet-Biedl syndrome
  • c.826-14A>G Single submitter Bardet-Biedl syndrome
  • c.826-16A>G Single submitter Bardet-Biedl syndrome
  • c.826-20C>T Single submitter Bardet-Biedl syndrome
  • c.826-5A>T Single submitter Bardet-Biedl syndrome
  • c.826-9_826-6del Single submitter Bardet-Biedl syndrome
  • c.-188G>C Single submitter Bardet-Biedl syndrome 15
  • p.Ala230= Single submitter Bardet-Biedl syndrome
  • p.Ala390= Single submitter Bardet-Biedl syndrome
  • p.Ala526= Single submitter Bardet-Biedl syndrome
  • p.Ala9= Single submitter Bardet-Biedl syndrome
  • p.Arg2= Single submitter Bardet-Biedl syndrome
  • p.Arg3= Single submitter Bardet-Biedl syndrome
  • p.Arg586= Single submitter Bardet-Biedl syndrome
  • p.Arg96= Single submitter Bardet-Biedl syndrome
  • p.Asn199= Single submitter Bardet-Biedl syndrome
  • p.Asn346= Single submitter Bardet-Biedl syndrome
  • p.Asn397= Single submitter Bardet-Biedl syndrome
  • p.Asn48= Single submitter Bardet-Biedl syndrome
  • p.Asn506= Single submitter Bardet-Biedl syndrome
  • p.Asn700= Single submitter Bardet-Biedl syndrome
  • p.Asn94= Single submitter Bardet-Biedl syndrome
  • p.Asp315= Single submitter Bardet-Biedl syndrome
  • p.Asp350= Single submitter Bardet-Biedl syndrome
  • p.Asp433= Single submitter
  • p.Asp490= Single submitter Bardet-Biedl syndrome
  • p.Asp601= Single submitter Bardet-Biedl syndrome
  • p.Asp665= Single submitter
  • p.Asp8= Single submitter Bardet-Biedl syndrome
  • p.Cys233Tyr Single submitter Inborn genetic diseases
  • p.Cys356= Single submitter Bardet-Biedl syndrome
  • p.Gln188= Single submitter Bardet-Biedl syndrome
  • p.Gln414= Single submitter Bardet-Biedl syndrome
  • p.Glu147= Single submitter Bardet-Biedl syndrome
  • p.Glu226= Single submitter Bardet-Biedl syndrome
  • p.Glu365= Single submitter Bardet-Biedl syndrome
  • p.Glu72= Single submitter Bardet-Biedl syndrome
  • p.Glu84= Single submitter Bardet-Biedl syndrome
  • p.Gly132= Single submitter Bardet-Biedl syndrome
  • p.Gly15= Single submitter Bardet-Biedl syndrome
  • p.Gly399= Single submitter Bardet-Biedl syndrome
  • p.Gly479= Single submitter Bardet-Biedl syndrome
  • p.Gly484= Single submitter Bardet-Biedl syndrome
  • p.Gly656= Single submitter Bardet-Biedl syndrome
  • p.His235= Single submitter Bardet-Biedl syndrome
  • p.His304= Single submitter Bardet-Biedl syndrome
  • p.His367= Single submitter Bardet-Biedl syndrome
  • p.Ile403= Single submitter Bardet-Biedl syndrome
  • p.Ile413= Single submitter Bardet-Biedl syndrome
  • p.Ile496= Single submitter Bardet-Biedl syndrome
  • p.Ile522= Single submitter Bardet-Biedl syndrome
  • p.Ile527= Single submitter
  • p.Ile681= Single submitter Bardet-Biedl syndrome
  • p.Leu136= Single submitter
  • p.Leu136Pro Single submitter Inborn genetic diseases
  • p.Leu159= Single submitter Bardet-Biedl syndrome
  • p.Leu169= Single submitter
  • p.Leu202= Single submitter Bardet-Biedl syndrome
  • p.Leu22= Single submitter Bardet-Biedl syndrome
  • p.Leu264= Single submitter Bardet-Biedl syndrome
  • p.Leu266= Single submitter Bardet-Biedl syndrome
  • p.Leu267= Single submitter Bardet-Biedl syndrome
  • p.Leu277= Single submitter Bardet-Biedl syndrome
  • p.Leu354= Single submitter Bardet-Biedl syndrome
  • p.Leu372= Single submitter Bardet-Biedl syndrome
  • p.Leu379= Single submitter Bardet-Biedl syndrome
  • p.Leu392= Single submitter Bardet-Biedl syndrome
  • p.Leu393= Single submitter Bardet-Biedl syndrome
  • p.Leu401= Single submitter Bardet-Biedl syndrome
  • p.Leu415= Single submitter Bardet-Biedl syndrome
  • p.Leu421= Single submitter Bardet-Biedl syndrome
  • p.Leu461= Single submitter Bardet-Biedl syndrome
  • p.Leu474= Single submitter Bardet-Biedl syndrome
  • p.Leu486= Single submitter Bardet-Biedl syndrome
  • p.Leu536= Single submitter Bardet-Biedl syndrome
  • p.Leu564= Single submitter Bardet-Biedl syndrome
  • p.Leu609= Single submitter Bardet-Biedl syndrome
  • p.Leu657= Single submitter Bardet-Biedl syndrome
  • p.Leu702= Single submitter Bardet-Biedl syndrome
  • p.Leu745= Single submitter Bardet-Biedl syndrome
  • p.Lys105= Single submitter Bardet-Biedl syndrome
  • p.Lys452= Single submitter Bardet-Biedl syndrome
  • p.Lys66= Single submitter Bardet-Biedl syndrome
  • p.Phe432= Single submitter Bardet-Biedl syndrome
  • p.Phe591= Single submitter Bardet-Biedl syndrome
  • p.Pro21= Single submitter Bardet-Biedl syndrome
  • p.Pro220= Single submitter Bardet-Biedl syndrome
  • p.Pro23= Single submitter Bardet-Biedl syndrome
  • p.Pro557= Single submitter Bardet-Biedl syndrome
  • p.Ser177= Single submitter Bardet-Biedl syndrome
  • p.Ser20= Single submitter Bardet-Biedl syndrome
  • p.Ser307= Single submitter Bardet-Biedl syndrome
  • p.Ser338= Single submitter
  • p.Ser409= Single submitter Bardet-Biedl syndrome
  • p.Ser666= Single submitter Bardet-Biedl syndrome
  • p.Ser737= Single submitter Bardet-Biedl syndrome
  • p.Thr163= Single submitter Bardet-Biedl syndrome
  • p.Thr282= Single submitter Bardet-Biedl syndrome
  • p.Thr293= Single submitter Bardet-Biedl syndrome
  • p.Thr348= Single submitter Bardet-Biedl syndrome
  • p.Thr550= Single submitter Bardet-Biedl syndrome
  • p.Thr677= Single submitter Bardet-Biedl syndrome
  • p.Tyr10= Single submitter Bardet-Biedl syndrome
  • p.Tyr125= Single submitter Bardet-Biedl syndrome
  • p.Tyr459= Single submitter Bardet-Biedl syndrome
  • p.Tyr495= Single submitter Bardet-Biedl syndrome
  • p.Val308= Single submitter Bardet-Biedl syndrome
  • c.1748+18303T>G No assertion criteria WDPCP-related disorder
  • c.1748+18340G>A No assertion criteria WDPCP-related disorder
  • c.1748+18358G>A No assertion criteria WDPCP-related disorder
  • c.1748+18448C>T No assertion criteria WDPCP-related disorder
  • c.500-304C>T No assertion criteria WDPCP-related disorder
  • c.500-315A>G No assertion criteria WDPCP-related disorder
  • c.500-321G>A No assertion criteria WDPCP-related disorder
  • c.500-333T>C No assertion criteria WDPCP-related disorder
  • c.75+9T>G No assertion criteria WDPCP-related disorder
  • c.826-4A>T No assertion criteria WDPCP-related disorder
  • c.-7T>G No assertion criteria WDPCP-related disorder
  • c.*5T>C No assertion criteria WDPCP-related disorder
  • p.Arg533= No assertion criteria WDPCP-related disorder
  • p.Ile696= No assertion criteria WDPCP-related disorder
  • p.Leu287= No assertion criteria WDPCP-related disorder
  • p.Leu336= No assertion criteria WDPCP-related disorder
  • p.Leu352= No assertion criteria WDPCP-related disorder
  • p.Leu475= No assertion criteria WDPCP-related disorder
  • p.Pro243= No assertion criteria WDPCP-related disorder
  • p.Ser138= No assertion criteria WDPCP-related disorder
  • p.Ser142= No assertion criteria WDPCP-related disorder
  • p.Thr301= No assertion criteria WDPCP-related disorder
  • p.Thr562= No assertion criteria WDPCP-related disorder

Uncertain significance 391

Showing the top 300 by review status; the full set is in the sitemap.