Sugi Variant

Sugi Variant/SUFU

SUFU — 1621 ClinVar variants

All ClinVar germline SUFU variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 722 flagged for review →

62 Pathogenic · 4 Pathogenic/Likely pathogenic · 42 Likely pathogenic · 98 Conflicting · 29 Benign · 14 Benign/Likely benign · 559 Likely benign · 813 Uncertain significance

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

⚑ Evidence disagreements 722

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 58

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 415

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 415

Predictors split 247

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 247

All SUFU variants

Pathogenic 62

  • c.1022+1G>A Multiple submitters SUFU-related disorder
  • p.Ala340fs Multiple submitters medulloblastoma
  • p.Arg146Ter Multiple submitters basal cell nevus syndrome 2
  • p.Arg299Ter Multiple submitters basal cell nevus syndrome 2
  • p.Gln375fs Multiple submitters medulloblastoma
  • p.Gly378fs Multiple submitters hereditary neoplastic syndrome
  • p.Leu300fs Multiple submitters hereditary neoplastic syndrome
  • p.Pro341fs Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Thr196fs Multiple submitters hereditary neoplastic syndrome
  • p.Trp214Ter Multiple submitters nevoid basal cell carcinoma syndrome
  • c.454+1G>A Single submitter nevoid basal cell carcinoma syndrome
  • p.Ala418fs Single submitter hereditary neoplastic syndrome
  • p.Arg298fs Single submitter nevoid basal cell carcinoma syndrome
  • p.Arg299fs Single submitter nevoid basal cell carcinoma syndrome
  • p.Arg42fs Single submitter nevoid basal cell carcinoma syndrome
  • p.Asn76fs Single submitter
  • p.Asp182fs Single submitter
  • p.Asp47fs Single submitter nevoid basal cell carcinoma syndrome
  • p.Cys273fs Single submitter medulloblastoma
  • p.Gln186Ter Single submitter nevoid basal cell carcinoma syndrome
  • p.Gln199Ter Single submitter hereditary neoplastic syndrome
  • p.Gln213Ter Single submitter nevoid basal cell carcinoma syndrome
  • p.Gln217fs Single submitter nevoid basal cell carcinoma syndrome
  • p.Gln296Ter Single submitter medulloblastoma
  • p.Gln375Ter Single submitter basal cell nevus syndrome 2
  • p.Gln432Ter Single submitter nevoid basal cell carcinoma syndrome
  • p.Gln53Ter Single submitter nevoid basal cell carcinoma syndrome
  • p.Glu221fs Single submitter nevoid basal cell carcinoma syndrome
  • p.Glu283fs Single submitter medulloblastoma
  • p.Glu310Ter Single submitter hereditary neoplastic syndrome
  • p.Glu359fs Single submitter nevoid basal cell carcinoma syndrome
  • p.Glu414Ter Single submitter nevoid basal cell carcinoma syndrome
  • p.Glu86Ter Single submitter nevoid basal cell carcinoma syndrome
  • p.Gly193fs Single submitter nevoid basal cell carcinoma syndrome
  • p.His160fs Single submitter Oculomotor apraxia
  • p.His176fs Single submitter hereditary neoplastic syndrome
  • p.Leu390_His394delinsGluTer Single submitter hereditary neoplastic syndrome
  • p.Leu434fs Single submitter hereditary neoplastic syndrome
  • p.Lys59Ter Single submitter nevoid basal cell carcinoma syndrome
  • p.Phe408fs Single submitter
  • p.Phe417fs Single submitter nevoid basal cell carcinoma syndrome
  • p.Pro232_Trp233insTer Single submitter nevoid basal cell carcinoma syndrome
  • p.Pro297fs Single submitter nevoid basal cell carcinoma syndrome
  • p.Ser114fs Single submitter medulloblastoma
  • p.Ser114Ter Single submitter nevoid basal cell carcinoma syndrome
  • p.Ser288fs Single submitter medulloblastoma
  • p.Thr13fs Single submitter hereditary neoplastic syndrome
  • p.Thr311_Leu312insTer Single submitter nevoid basal cell carcinoma syndrome
  • p.Thr396_Tyr397insTer Single submitter nevoid basal cell carcinoma syndrome
  • p.Trp136Ter Single submitter nevoid basal cell carcinoma syndrome
  • p.Trp233Ter Single submitter nevoid basal cell carcinoma syndrome
  • p.Trp275Ter Single submitter nevoid basal cell carcinoma syndrome
  • p.Trp430Ter Single submitter hereditary neoplastic syndrome
  • p.Trp61Ter Single submitter hereditary neoplastic syndrome
  • p.Tyr38fs Single submitter medulloblastoma
  • p.Tyr424Ter Single submitter hereditary neoplastic syndrome
  • p.Tyr74Ter Single submitter nevoid basal cell carcinoma syndrome
  • p.Val194fs Single submitter nevoid basal cell carcinoma syndrome
  • p.Val54fs Single submitter nevoid basal cell carcinoma syndrome
  • p.Val58fs Single submitter medulloblastoma
  • p.His176Arg No assertion criteria Joubert syndrome 32
  • p.Pro49fs No assertion criteria medulloblastoma

Pathogenic/Likely pathogenic 4

  • p.Glu438fs Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Leu383fs Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Ser301fs Multiple submitters hereditary neoplastic syndrome
  • p.Trp88Ter Multiple submitters intellectual disability

Likely pathogenic 42

  • c.1023-2A>T Multiple submitters nevoid basal cell carcinoma syndrome
  • c.683+1G>A Multiple submitters nevoid basal cell carcinoma syndrome
  • c.684-2A>G Multiple submitters basal cell nevus syndrome 2
  • c.1022+2dup Single submitter hereditary neoplastic syndrome
  • c.1023-2A>G Single submitter nevoid basal cell carcinoma syndrome
  • c.1157+1del Single submitter familial meningioma
  • c.1157+1G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1365+1G>A Single submitter medulloblastoma
  • c.1365+2T>G Single submitter nevoid basal cell carcinoma syndrome
  • c.182+1G>A Single submitter medulloblastoma
  • c.182+3A>C Single submitter nevoid basal cell carcinoma syndrome
  • c.183-1G>T Single submitter nevoid basal cell carcinoma syndrome
  • c.183-2A>C Single submitter nevoid basal cell carcinoma syndrome
  • c.183-4_247del Single submitter medulloblastoma
  • c.317+1G>A Single submitter medulloblastoma
  • c.318-1G>C Single submitter nevoid basal cell carcinoma syndrome
  • c.597+1G>A Single submitter hereditary neoplastic syndrome
  • c.597+1G>C Single submitter nevoid basal cell carcinoma syndrome
  • c.598-1G>T Single submitter basal cell nevus syndrome 2
  • c.683+1G>T Single submitter hereditary neoplastic syndrome
  • c.683+5G>A Single submitter hereditary neoplastic syndrome
  • c.684-2A>T Single submitter SUFU-related ocular motor apraxia
  • c.739_756+12del Single submitter hereditary neoplastic syndrome
  • c.756+1G>T Single submitter hereditary neoplastic syndrome
  • c.910+1G>A Single submitter hereditary neoplastic syndrome
  • c.911-1G>T Single submitter nevoid basal cell carcinoma syndrome
  • c.911-8C>A Single submitter hereditary neoplastic syndrome
  • p.Asn83fs Single submitter SUFU-related disorder
  • p.Gln186fs Single submitter neurodevelopmental disorder
  • p.Gln365fs Single submitter basal cell nevus syndrome 2
  • p.Glu283Ter Single submitter
  • p.Gly193_Val194insTer Single submitter SUFU-related disorder
  • p.His337fs Single submitter SUFU-related disorder
  • p.Leu316fs Single submitter basal cell nevus syndrome 2
  • p.Leu458fs Single submitter
  • p.Lys59Asn Single submitter
  • p.Met1Lys Single submitter hereditary neoplastic syndrome
  • p.Pro281fs Single submitter basal cell nevus syndrome 2
  • p.Ser342fs Single submitter nevoid basal cell carcinoma syndrome
  • p.Thr295fs Single submitter
  • c.1296+1635C>A No assertion criteria nevoid basal cell carcinoma syndrome
  • p.Trp464Ter No assertion criteria familial meningioma

Conflicting classifications of pathogenicity 98

Benign 29

Benign/Likely benign 14

  • c.1023-23C>G Multiple submitters
  • c.1157+3G>A Multiple submitters medulloblastoma
  • c.1365+19T>C Multiple submitters nevoid basal cell carcinoma syndrome
  • c.182+16C>T Multiple submitters Joubert syndrome 32
  • p.Ala340Ser Multiple submitters basal cell nevus syndrome 2
  • p.Asn215= Multiple submitters medulloblastoma
  • p.Asp285= Multiple submitters medulloblastoma
  • p.Gly158= Multiple submitters medulloblastoma
  • p.Ile433= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Thr353= Multiple submitters hereditary neoplastic syndrome
  • p.Thr436= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr397= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr424= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr70= Multiple submitters medulloblastoma

Likely benign 559

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

  • c.1023-20T>C Multiple submitters nevoid basal cell carcinoma syndrome
  • c.1157+6C>T Multiple submitters nevoid basal cell carcinoma syndrome
  • c.1157+75C>T Multiple submitters
  • c.1158-8A>G Multiple submitters medulloblastoma
  • c.1296+1793C>T Multiple submitters
  • c.1365+103G>T Multiple submitters
  • c.1366-4A>G Multiple submitters medulloblastoma
  • c.182+20G>A Multiple submitters nevoid basal cell carcinoma syndrome
  • c.183-20_183-19del Multiple submitters nevoid basal cell carcinoma syndrome
  • c.183-4del Multiple submitters nevoid basal cell carcinoma syndrome
  • c.318-17C>A Multiple submitters nevoid basal cell carcinoma syndrome
  • c.455-13A>G Multiple submitters nevoid basal cell carcinoma syndrome
  • c.455-143C>T Multiple submitters
  • c.597+6G>A Multiple submitters medulloblastoma
  • c.598-4T>G Multiple submitters nevoid basal cell carcinoma syndrome
  • c.683+17G>A Multiple submitters nevoid basal cell carcinoma syndrome
  • c.684-17C>G Multiple submitters nevoid basal cell carcinoma syndrome
  • c.757-120G>A Multiple submitters
  • c.757-15G>T Multiple submitters nevoid basal cell carcinoma syndrome
  • c.757-4G>T Multiple submitters hereditary neoplastic syndrome
  • c.910+20A>G Multiple submitters nevoid basal cell carcinoma syndrome
  • c.911-4G>A Multiple submitters hereditary neoplastic syndrome
  • c.*1672A>G Multiple submitters medulloblastoma
  • c.*205G>A Multiple submitters medulloblastoma
  • p.Ala138= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Ala211= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Ala336= Multiple submitters medulloblastoma
  • p.Ala416= Multiple submitters medulloblastoma
  • p.Ala418= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Arg239= Multiple submitters medulloblastoma
  • p.Arg240= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Arg254= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Arg280= Multiple submitters hereditary neoplastic syndrome
  • p.Arg289= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Arg309= Multiple submitters hereditary neoplastic syndrome
  • p.Arg313= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Arg339= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Arg364= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Arg393= Multiple submitters hereditary neoplastic syndrome
  • p.Arg42= Multiple submitters hereditary neoplastic syndrome
  • p.Arg43= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Asn102= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Asn153= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Asn265= Multiple submitters hereditary neoplastic syndrome
  • p.Asn76= Multiple submitters hereditary neoplastic syndrome
  • p.Asp159= Multiple submitters hereditary neoplastic syndrome
  • p.Asp262= Multiple submitters hereditary neoplastic syndrome
  • p.Asp276= Multiple submitters hereditary neoplastic syndrome
  • p.Asp277= Multiple submitters medulloblastoma
  • p.Asp304= Multiple submitters hereditary neoplastic syndrome
  • p.Asp476= Multiple submitters hereditary neoplastic syndrome
  • p.Asp66= Multiple submitters medulloblastoma
  • p.Cys273= Multiple submitters hereditary neoplastic syndrome
  • p.Cys292= Multiple submitters medulloblastoma
  • p.Cys384= Multiple submitters hereditary neoplastic syndrome
  • p.Cys41= Multiple submitters hereditary neoplastic syndrome
  • p.Gln142= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Gln186= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Gln213= Multiple submitters hereditary neoplastic syndrome
  • p.Gln252= Multiple submitters medulloblastoma
  • p.Glu106= Multiple submitters medulloblastoma
  • p.Glu181= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Glu206= Multiple submitters hereditary neoplastic syndrome
  • p.Glu242= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Glu283= Multiple submitters hereditary neoplastic syndrome
  • p.Glu286= Multiple submitters hereditary neoplastic syndrome
  • p.Glu317= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Glu359= Multiple submitters hereditary neoplastic syndrome
  • p.Glu40= Multiple submitters medulloblastoma
  • p.Glu421= Multiple submitters medulloblastoma
  • p.Glu466= Multiple submitters hereditary neoplastic syndrome
  • p.Glu86= Multiple submitters hereditary neoplastic syndrome
  • p.Gly100= Multiple submitters hereditary neoplastic syndrome
  • p.Gly112= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Gly218= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Gly230= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Gly231= Multiple submitters hereditary neoplastic syndrome
  • p.Gly258= Multiple submitters hereditary neoplastic syndrome
  • p.Gly268= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Gly334= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Gly378= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Gly392= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Gly63= Multiple submitters hereditary neoplastic syndrome
  • p.Gly64= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.His160= Multiple submitters hereditary neoplastic syndrome
  • p.His337= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.His427= Multiple submitters hereditary neoplastic syndrome
  • p.His484= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.His89= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Ile200= Multiple submitters hereditary neoplastic syndrome
  • p.Ile228= Multiple submitters hereditary neoplastic syndrome
  • p.Ile247= Multiple submitters hereditary neoplastic syndrome
  • p.Ile259= Multiple submitters medulloblastoma
  • p.Ile355= Multiple submitters medulloblastoma
  • p.Ile356= Multiple submitters hereditary neoplastic syndrome
  • p.Ile406= Multiple submitters medulloblastoma
  • p.Ile57= Multiple submitters medulloblastoma
  • p.Ile84= Multiple submitters hereditary neoplastic syndrome
  • p.Leu124= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Leu179= Multiple submitters medulloblastoma
  • p.Leu208= Multiple submitters hereditary neoplastic syndrome
  • p.Leu220= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Leu222= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Leu223= Multiple submitters hereditary neoplastic syndrome
  • p.Leu251= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Leu266= Multiple submitters medulloblastoma
  • p.Leu278= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Leu300= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Leu316= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Leu347= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Leu366= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Leu371= Multiple submitters medulloblastoma
  • p.Leu383= Multiple submitters hereditary neoplastic syndrome
  • p.Leu389= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Leu390= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Leu431= Multiple submitters hereditary neoplastic syndrome
  • p.Leu450= Multiple submitters hereditary neoplastic syndrome
  • p.Leu474= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Leu52= Multiple submitters hereditary neoplastic syndrome
  • p.Leu68= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Lys125= Multiple submitters hereditary neoplastic syndrome
  • p.Phe149= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Phe197= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Phe395= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Phe439= Multiple submitters hereditary neoplastic syndrome
  • p.Phe479= Multiple submitters hereditary neoplastic syndrome
  • p.Phe93= Multiple submitters medulloblastoma
  • p.Pro133= Multiple submitters hereditary neoplastic syndrome
  • p.Pro134= Multiple submitters hereditary neoplastic syndrome
  • p.Pro183= Multiple submitters hereditary neoplastic syndrome
  • p.Pro187= Multiple submitters medulloblastoma
  • p.Pro191= Multiple submitters hereditary neoplastic syndrome
  • p.Pro232= Multiple submitters medulloblastoma
  • p.Pro281= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Pro282= Multiple submitters hereditary neoplastic syndrome
  • p.Pro297= Multiple submitters hereditary neoplastic syndrome
  • p.Pro325= Multiple submitters hereditary neoplastic syndrome
  • p.Pro329= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Pro357= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Pro382= Multiple submitters medulloblastoma
  • p.Pro429= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Pro465= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Pro482= Multiple submitters hereditary neoplastic syndrome
  • p.Pro51= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Pro67= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Ser270= Multiple submitters hereditary neoplastic syndrome
  • p.Ser290= Multiple submitters hereditary neoplastic syndrome
  • p.Ser352= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Ser368= Multiple submitters medulloblastoma
  • p.Ser472= Multiple submitters medulloblastoma
  • p.Ter485= Multiple submitters medulloblastoma
  • p.Thr121= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Thr135= Multiple submitters hereditary neoplastic syndrome
  • p.Thr190= Multiple submitters hereditary neoplastic syndrome
  • p.Thr196= Multiple submitters medulloblastoma
  • p.Thr205= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Thr295= Multiple submitters hereditary neoplastic syndrome
  • p.Thr305= Multiple submitters hereditary neoplastic syndrome
  • p.Thr311= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Thr363= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr147= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Tyr38= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr45= Multiple submitters hereditary neoplastic syndrome
  • p.Tyr90= Multiple submitters hereditary neoplastic syndrome
  • p.Val148= Multiple submitters medulloblastoma
  • p.Val194= Multiple submitters hereditary neoplastic syndrome
  • p.Val195= Multiple submitters hereditary neoplastic syndrome
  • p.Val201= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Val203= Multiple submitters hereditary neoplastic syndrome
  • p.Val226= Multiple submitters hereditary neoplastic syndrome
  • p.Val269= Multiple submitters hereditary neoplastic syndrome
  • p.Val323= Multiple submitters hereditary neoplastic syndrome
  • p.Val413= Multiple submitters medulloblastoma
  • p.Val478= Multiple submitters nevoid basal cell carcinoma syndrome
  • p.Val77= Multiple submitters hereditary neoplastic syndrome
  • c.1022+10C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1022+11C>T Single submitter
  • c.1022+12A>C Single submitter nevoid basal cell carcinoma syndrome
  • c.1022+12A>G Single submitter nevoid basal cell carcinoma syndrome
  • c.1022+14T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.1022+15G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1022+16T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.1022+20del Single submitter nevoid basal cell carcinoma syndrome
  • c.1022+38C>T Single submitter
  • c.1022+9C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1023-12C>T Single submitter medulloblastoma
  • c.1023-14T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.1023-15G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1023-16T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.1023-18C>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1023-18C>G Single submitter nevoid basal cell carcinoma syndrome
  • c.1023-18C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1023-19T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.1023-28C>T Single submitter
  • c.1023-8C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1023-9G>C Single submitter medulloblastoma
  • c.1157+11_1157+12del Single submitter medulloblastoma
  • c.1157+11C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1157+13del Single submitter nevoid basal cell carcinoma syndrome
  • c.1157+14C>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1157+14C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1157+16C>G Single submitter nevoid basal cell carcinoma syndrome
  • c.1157+17T>G Single submitter nevoid basal cell carcinoma syndrome
  • c.1157+20CA[4] Single submitter medulloblastoma
  • c.1157+23A>G Single submitter
  • c.1157+246T>G Single submitter
  • c.1157+7G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1157+7G>C Single submitter nevoid basal cell carcinoma syndrome
  • c.1158-10_1158-9insT Single submitter nevoid basal cell carcinoma syndrome
  • c.1158-11C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1158-13T>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1158-13T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.1158-13T>G Single submitter nevoid basal cell carcinoma syndrome
  • c.1158-15T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.1158-18_1158-15dup Single submitter nevoid basal cell carcinoma syndrome
  • c.1158-18C>G Single submitter nevoid basal cell carcinoma syndrome
  • c.1158-20C>G Single submitter nevoid basal cell carcinoma syndrome
  • c.1158-4C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1158-8_1158-7insCTG Single submitter medulloblastoma
  • c.1158-9C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1296+10C>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1296+13_1296+91del Single submitter nevoid basal cell carcinoma syndrome
  • c.1296+1355C>T Single submitter
  • c.1296+1423G>A Single submitter
  • c.1296+14T>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1296+14T>G Single submitter nevoid basal cell carcinoma syndrome
  • c.1296+177C>T Single submitter
  • c.1296+1824C>T Single submitter
  • c.1296+18C>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1296+18C>T Single submitter medulloblastoma
  • c.1296+18dup Single submitter medulloblastoma
  • c.1296+74C>T Single submitter
  • c.1296+9G>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1297-12G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1297-15C>T Single submitter medulloblastoma
  • c.1297-16C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1297-19C>G Single submitter nevoid basal cell carcinoma syndrome
  • c.1297-20C>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1297-4A>G Single submitter hereditary neoplastic syndrome
  • c.1297-7T>C Single submitter medulloblastoma
  • c.1365+13G>A Single submitter medulloblastoma
  • c.1365+13G>C Single submitter nevoid basal cell carcinoma syndrome
  • c.1365+14A>G Single submitter nevoid basal cell carcinoma syndrome
  • c.1365+6C>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1365+7T>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1365+8T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.1366-10C>A Single submitter nevoid basal cell carcinoma syndrome
  • c.1366-12C>G Single submitter hereditary neoplastic syndrome
  • c.1366-12C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1366-13G>C Single submitter nevoid basal cell carcinoma syndrome
  • c.1366-15T>A Single submitter medulloblastoma
  • c.1366-17G>C Single submitter nevoid basal cell carcinoma syndrome
  • c.1366-18T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.1366-45C>T Single submitter
  • c.1366-6C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.1366-7_1366-5del Single submitter nevoid basal cell carcinoma syndrome
  • c.182+11G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.182+14C>G Single submitter nevoid basal cell carcinoma syndrome
  • c.182+17G>T Single submitter nevoid basal cell carcinoma syndrome
  • c.182+18G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.182+18G>C Single submitter nevoid basal cell carcinoma syndrome
  • c.182+7T>A Single submitter nevoid basal cell carcinoma syndrome
  • c.182+7T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.182+8C>G Single submitter nevoid basal cell carcinoma syndrome
  • c.182+9T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.183-10T>C Single submitter medulloblastoma
  • c.183-11G>T Single submitter nevoid basal cell carcinoma syndrome
  • c.183-13T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.183-16G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.183-17T>C Single submitter medulloblastoma
  • c.183-18G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.183-18G>C Single submitter nevoid basal cell carcinoma syndrome
  • c.183-19T>C Single submitter medulloblastoma
  • c.183-20C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.183-47C>G Single submitter
  • c.183-49G>T Single submitter
  • c.183-5dup Single submitter hereditary neoplastic syndrome
  • c.317+11G>A Single submitter nevoid basal cell carcinoma syndrome
  • c.317+12C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.317+14A>G Single submitter nevoid basal cell carcinoma syndrome
  • c.317+15C>A Single submitter medulloblastoma
  • c.317+15C>T Single submitter medulloblastoma
  • c.317+16C>G Single submitter nevoid basal cell carcinoma syndrome
  • c.317+18G>C Single submitter nevoid basal cell carcinoma syndrome
  • c.317+7A>G Single submitter medulloblastoma
  • c.317+9A>C Single submitter medulloblastoma
  • c.317+9A>G Single submitter nevoid basal cell carcinoma syndrome
  • c.318-10T>C Single submitter nevoid basal cell carcinoma syndrome
  • c.318-11A>C Single submitter nevoid basal cell carcinoma syndrome
  • c.318-11A>G Single submitter nevoid basal cell carcinoma syndrome
  • c.318-11del Single submitter nevoid basal cell carcinoma syndrome
  • c.318-17C>G Single submitter nevoid basal cell carcinoma syndrome
  • c.318-17C>T Single submitter nevoid basal cell carcinoma syndrome
  • c.318-19del Single submitter medulloblastoma
  • c.318-19T>A Single submitter nevoid basal cell carcinoma syndrome
  • c.318-22_318-19del Single submitter nevoid basal cell carcinoma syndrome
  • c.318-245T>C Single submitter
  • c.318-53G>T Single submitter
  • c.318-7C>G Single submitter nevoid basal cell carcinoma syndrome
  • c.318-8T>C Single submitter nevoid basal cell carcinoma syndrome

Uncertain significance 813

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