MSeqDR Mitochondrial Disease Portal


 
*:HP: HPO terms, UMDF: 1= Disease, ND: NAMDC terms.
  Most Studied  CPEO, Complex I Deficiency, COXPD1, Leigh, LHON, MELAS, MERRF, Myopathy, SANDO
Term ID:7585
Name:Melanoma-Pancreatic Cancer Syndrome
Definition:
Alternative IDs:OMIM:606719
ParentIDs:MESH:D008545|MESH:D009386|MESH:D010190
TreeNumbers:C04.557.465.625.650.510/C563985 |C04.557.580.625.650.510/C563985 |C04.557.665.510/C563985 |C04.588.274.761/C563985 |C04.588.322.475/C563985 |C04.700/C563985 |C06.301.761/C563985 |C06.689.667/C563985 |C16.320.700/C563985 |C19.344.421/C563985
Synonyms:Familial Atypical Multiple Mole Melanoma-Pancreatic Carcinoma Syndrome |FAMMMPC |FAMMMPC Syndrome
Slim Mappings:Cancer|Digestive system disease|Endocrine system disease|Genetic disease (inborn)
Reference: MedGen: C563985
MeSH: C563985
OMIM: 606719;
MSeqDR LSDB:  
Genes: CDKN2A; CHRNA1; CHRND; CHRNE;
Phenotypes
1 HP:0000006Autosomal dominant inheritance
2 HP:0002861Melanoma
3 HP:0012182Oropharyngeal squamous cell carcinoma
4 HP:0006725Pancreatic adenocarcinoma
5 HP:0012142Pancreatic squamous cell carcinoma
6 HP:0100242Sarcoma
7 HP:0002860Squamous cell carcinoma
Disease Causing ClinVar Variants
Variation_NameGeneIDGeneSymbolClinicalSignificancedbSNPRCVaccessionTestedInGTRPhenotypeIDsChromosomeStartStopHGVS_cHGVS_pHGVS_gOtherIDsDisease_ClinVar
NM_000077.5(CDKN2A):c.458-465G>C1029CDKN2ALikely benignrs563204204RCV000411481; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092196870621968706CG9:g.21968706C>GClinGen:CA16042103C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.458-491C>T1029CDKN2AConflicting interpretations of pathogenicityrs181044510RCV000120542|RCV000412244|RCV001575062|RCV001762253; NMedGen:CN169374|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MedGen:CN517202|MONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:61892196873221968732GA9:g.21968732G>AClinGen:CA158070C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.458-492G>C1029CDKN2ALikely benignrs527814073RCV000120543|RCV000411704; NMedGen:CN169374|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092196873321968733CG9:g.21968733C>GClinGen:CA158072C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.458-525G>T1029CDKN2ALikely benignrs1448745459RCV000988144; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092196876621968766CA9:g.21968766C>A-
NM_000077.5(CDKN2A):c.458-541A>G1029CDKN2ALikely benignrs938889880RCV000411205; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092196878221968782TCNC_000009.11:g.21968782T>CClinGen:CA16042104C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.457+1129C>T1029CDKN2ALikely benignrs774962789RCV000988145; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092196977221969772GA9:g.21969772G>A-
NM_000077.5(CDKN2A):c.457+83C>T1029CDKN2ALikely benignrs560686386RCV000988146; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197081821970818GA9:g.21970818G>A-
NM_000077.5(CDKN2A):c.457+30C>T1029CDKN2ALikely benignrs780868128RCV000988147; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197087121970871GA9:g.21970871G>A-
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr)1029CDKN2APathogenic/Likely pathogenicrs45476696RCV000198192|RCV000223581|RCV000576665; NMONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197090121970901CANC_000009.11:g.21970901C>AClinGen:CA337714C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr)1029CDKN2ABenignrs3731249RCV000034482|RCV000078114|RCV000157755|RCV000412408|RCV001080122; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:61892197091621970916CT9:g.21970916C>TClinGen:CA145730,UniProtKB:P42771#VAR_001486C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys)1029CDKN2ABenign/Likely benignrs116150891RCV000034481|RCV000120540|RCV000160408|RCV000410751|RCV001080811; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:61892197092821970928GA9:g.21970928G>AClinGen:CA158064,UniProtKB:P42771#VAR_001484C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.427G>A (p.Ala143Thr)1029CDKN2AUncertain significancers754195015RCV000235756|RCV000462732|RCV000662465|RCV000775628|RCV000780109; NMedGen:CN517202|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN16937492197093121970931CTNC_000009.11:g.21970931C>TClinGen:CA5012158C1512419 Hereditary cutaneous melanoma;
NM_000077.5(CDKN2A):c.415G>C (p.Gly139Arg)1029CDKN2AUncertain significancers587781733RCV000198747|RCV000663182|RCV000773049|RCV001357560; NMONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN51720292197094321970943CGNC_000009.11:g.21970943C>GClinGen:CA338157C1512419 Hereditary cutaneous melanoma;
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=)1029CDKN2ABenign/Likely benignrs199901898RCV000163455|RCV000410792|RCV000759024|RCV000781221|RCV001080226; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:61892197097421970974CT9:g.21970974C>TClinGen:CA188331C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser)1029CDKN2ABenign/Likely benignrs6413464RCV000034480|RCV000120541|RCV000129667|RCV000411295|RCV001081463; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:61892197097921970979CA9:g.21970979C>AClinGen:CA158067,UniProtKB:P42771#VAR_001480C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp)1029CDKN2APathogenicrs104894098RCV000010027|RCV000160413|RCV000212403|RCV000227154|RCV000576733; NMONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:4045692197098121970981AT9:g.21970981A>TClinGen:CA120398,UniProtKB:P42771#VAR_001479,OMIM:600160.0013C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His)1029CDKN2AConflicting interpretations of pathogenicityrs146179135RCV000034479|RCV000122948|RCV000166832|RCV000410592|RCV000855586; NMedGen:CN517202|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MedGen:CN16937492197098521970985CG9:g.21970985C>GClinGen:CA196825C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys)1029CDKN2AConflicting interpretations of pathogenicityrs34170727RCV000215702|RCV000473505|RCV000478053|RCV000663297|RCV001731445; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MedGen:CN517202|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MedGen:CN16937492197098821970988GA9:g.21970988G>AClinGen:CA5012170,UniProtKB:P42771#VAR_053032C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln)1029CDKN2AConflicting interpretations of pathogenicityrs6413463RCV000115336|RCV000254655|RCV000411383|RCV000588888|RCV000709065|RCV001080834; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MedGen:CN517202|MONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:618|MONDO:MONDO:0018961,MedGen:C15192197098921970989AT9:g.21970989A>TClinGen:CA287173,UniProtKB:P42771#VAR_001477C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.369T>C (p.His123=)1029CDKN2ALikely benignrs6413463RCV000205487|RCV000575291|RCV000988148|RCV001284613; NMONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MedGen:CN51720292197098921970989AG9:g.21970989A>GClinGen:CA349640C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.365G>T (p.Gly122Val)1029CDKN2AUncertain significancers373291490RCV000205742|RCV000561305|RCV000586898|RCV000764829|RCV001260251; NMONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560; MONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:6192197099321970993CANC_000009.11:g.21970993C>AClinGen:CA299046C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.333C>T (p.Gly111=)1029CDKN2AUncertain significancers1490202463RCV000988149; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197102521971025GA9:g.21971025G>A-
NM_000077.5(CDKN2A):c.331G>A (p.Gly111Ser)1029CDKN2AUncertain significancers778971134RCV000539317|RCV000662730|RCV001019982; NMONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016292197102721971027CTNC_000009.11:g.21971027C>TClinGen:CA5012180C1512419 Hereditary cutaneous melanoma;
NM_000077.5(CDKN2A):c.325G>C (p.Ala109Pro)1029CDKN2AUncertain significancers372481694RCV000115335|RCV000212402|RCV000475093|RCV001175531|RCV001535740; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MedGen:CN169374|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560; MONDO:MONDO:0007967,MedGen:C1835042,OMIM:1592197103321971033CG9:g.21971033C>GClinGen:CA287168C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)1029CDKN2AConflicting interpretations of pathogenicityrs199888003RCV000160416|RCV000212401|RCV000590444|RCV000988150|RCV001050185; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MedGen:CN517202|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:61892197104021971040CT9:g.21971040C>TClinGen:CA299041C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.315C>A (p.Asp105Glu)1029CDKN2AConflicting interpretations of pathogenicityrs763269347RCV000467808|RCV000569825|RCV000709066|RCV000663166; NMONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:618|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197104321971043GTNC_000009.11:g.21971043G>TClinGen:CA5012185C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)1029CDKN2APathogenicrs104894094RCV000010019|RCV000010018|RCV000115334|RCV000196633|RCV000212400|RCV000415140|RCV000622260; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MedGen:CN5172092197105721971057CA9:g.21971057C>AOMIM:600160.0005,ClinGen:CA120387,UniProtKB:P42771#VAR_001464C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.301G>A (p.Gly101Arg)1029CDKN2AUncertain significancers104894094RCV000559321|RCV000663041|RCV000777266; NMONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016292197105721971057CTNC_000009.11:g.21971057C>TClinGen:CA373086108C1512419 Hereditary cutaneous melanoma;
NM_000077.5(CDKN2A):c.298G>T (p.Ala100Ser)1029CDKN2AConflicting interpretations of pathogenicityrs200863613RCV000229571|RCV000588034|RCV000570355|RCV000855587|RCV000988151; NMONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197106021971060CA9:g.21971060C>AClinGen:CA287163C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.295C>G (p.Arg99Gly)1029CDKN2AUncertain significancers34886500RCV000411399|RCV000638975|RCV001525391; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016292197106321971063GC9:g.21971063G>CClinGen:CA16042105C1512419 Hereditary cutaneous melanoma;
NM_000077.5(CDKN2A):c.285_288dup (p.Leu97fs)1029CDKN2ALikely pathogenic-1RCV001523808; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197106921971070GGCACC21971069-
NM_000077.5(CDKN2A):c.281T>A (p.Leu94Gln)1029CDKN2ALikely pathogenicrs1819703656RCV001310111; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197107721971077AT21971077-
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=)1029CDKN2AConflicting interpretations of pathogenicityrs4987127RCV000120545|RCV000411786|RCV000570074|RCV000656828|RCV001080130; NMedGen:CN169374|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:61892197108521971085CT9:g.21971085C>TClinGen:CA158074C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp)1029CDKN2ALikely pathogenicrs749714198RCV000457482|RCV000481993|RCV000580123|RCV000988152; NMONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197109921971099GA9:g.21971099G>AClinGen:CA5012197C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs)1029CDKN2APathogenicrs730881675RCV000160406|RCV000458351|RCV000576843; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197110521971118GCGTCGTGCACGGGTGNC_000009.11:g.21971107_21971120delClinGen:CA299024C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.250G>A (p.Asp84Asn)1029CDKN2AConflicting interpretations of pathogenicityrs11552822RCV000214736|RCV000474240|RCV000988153; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197110821971108CT9:g.21971108C>TClinGen:CA10578842,UniProtKB:P42771#VAR_001448C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.226_244del (p.Ala76fs)1029CDKN2APathogenic; risk factorrs587776716RCV000010013|RCV000010015; NMONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:618|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197111421971132ACGGGTCGGGTGAGAGTGGCANC_000009.11:g.21971114_21971132delClinGen:CA120386,OMIM:600160.0003
NM_000077.5(CDKN2A):c.221A>C (p.Asp74Ala)1029CDKN2AUncertain significancers200429615RCV000988154; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197113721971137TG9:g.21971137T>G-
NM_000077.5(CDKN2A):c.220G>C (p.Asp74His)1029CDKN2AUncertain significancers760640852RCV000988155; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197113821971138CG9:g.21971138C>G-
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg)1029CDKN2AConflicting interpretations of pathogenicityrs756750256RCV000236358|RCV000461748|RCV000564503|RCV000988156|RCV001705313; NMedGen:CN169374|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MedGen:CN51720292197116121971161TC9:g.21971161T>CClinGen:CA5012211C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly)1029CDKN2APathogenic/Likely pathogenicrs104894099RCV000010030|RCV000409228|RCV000494082|RCV000545232|RCV001800291; NMONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:618|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MedGen:CN5172092197118221971182AC9:g.21971182A>CClinGen:CA120402,UniProtKB:P42771#VAR_001427,OMIM:600160.0016C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.174A>C (p.Arg58=)1029CDKN2ABenign/Likely benignrs201208890RCV000116169|RCV000120544|RCV000411859|RCV000759746|RCV001080795; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MedGen:CN517202|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:61892197118421971184TG9:g.21971184T>GClinGen:CA151535C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val)1029CDKN2AConflicting interpretations of pathogenicityrs372266620RCV000215562|RCV000587917|RCV000988157|RCV001079843|RCV001762442; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:6192197118821971188GA9:g.21971188G>AClinGen:CA350362,UniProtKB:P42771#VAR_001426C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.160A>C (p.Met54Leu)1029CDKN2AUncertain significancers201314211RCV000546717|RCV000565661|RCV000759744|RCV000709069|RCV000988158; NMONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:618|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:4045692197119821971198TG9:g.21971198T>GClinGen:CA5012217C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.151-1G>A1029CDKN2APathogenicrs730881677RCV000786788|RCV001310109; NMedGen:CN517202|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197120821971208CT9:g.21971208C>T-
NM_000077.5(CDKN2A):c.151-4G>C1029CDKN2AConflicting interpretations of pathogenicityrs529380972RCV000130188|RCV000410358|RCV000431130|RCV000467989|RCV000585904|RCV001258294; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MedGen:CN169374|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MedGen:CN517202|Human Phenotype Ontology:HP:0001402,Human P92197121121971211CG9:g.21971211C>GClinGen:CA165905C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.151-14G>A1029CDKN2ABenign/Likely benignrs767030551RCV000411520|RCV000423535|RCV000580393; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016292197122121971221CTNC_000009.11:g.21971221C>TClinGen:CA5012222C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.151-66A>G1029CDKN2ALikely benignrs890179220RCV000988159; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197127321971273TC9:g.21971273T>C-
NM_000077.5(CDKN2A):c.150+1104C>A1029CDKN2AUncertain significancers756102261RCV000411164|RCV000507646|RCV001537554; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MedGen:CN169374|MedGen:CN51720292197357321973573GTNC_000009.11:g.21973573G>TClinGen:CA350214C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.150+1104C>T1029CDKN2ALikely benignrs756102261RCV000410912; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197357321973573GANC_000009.11:g.21973573G>AClinGen:CA16042106C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.150+280C>T1029CDKN2ALikely benignrs150201743RCV000988160; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197439721974397GA9:g.21974397G>A-
NM_000077.5(CDKN2A):c.150+216A>G1029CDKN2ALikely benignrs147602781RCV000410102; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197446121974461TC9:g.21974461T>CClinGen:CA5012250C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.150+193G>A1029CDKN2ALikely benignrs1057517587RCV000411058; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197448421974484CTNC_000009.11:g.21974484C>TClinGen:CA16042107C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.150+170dup1029CDKN2ALikely benignrs753316964RCV000663064; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197450621974507CCA9:g.21974506_21974507insA-C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.150+137T>G1029CDKN2ALikely benignrs1587338978RCV000988161; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197454021974540AC9:g.21974540A>C-
NM_000077.5(CDKN2A):c.150+104_150+105del1029CDKN2ALikely benignrs1057517608RCV000409027; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197457221974573CCTCNC_000009.11:g.21974572_21974573delClinGen:CA16042108C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.150+82A>G1029CDKN2AUncertain significancers1231900408RCV000709070|RCV000988162; NMONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:618|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197459521974595TC9:g.21974595T>C-C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.150+71_150+76del1029CDKN2ALikely benignrs753508262RCV000410693; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197460121974606GATTCCAGNC_000009.11:g.21974606_21974611delClinGen:CA5012285C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.150+40C>T1029CDKN2ALikely benignrs1057517604RCV000410315; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197463721974637GA9:g.21974637G>AClinGen:CA16042109C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.150+37G>C1029CDKN2AConflicting interpretations of pathogenicityrs45456595RCV000034475|RCV000120548|RCV000204895|RCV000411071|RCV000709071|RCV001013481; NMedGen:CN517202|MedGen:CN169374|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C00276792197464021974640CG9:g.21974640C>GClinGen:CA158086C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.150+20C>T1029CDKN2ALikely benignrs550846229RCV000120547|RCV000583339|RCV000662891|RCV002055325; NMedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:61892197465721974657GA9:g.21974657G>AClinGen:CA158084C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.150+11G>A1029CDKN2ALikely benignrs1587339427RCV000988163; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197466621974666CT9:g.21974666C>T-
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)1029CDKN2AConflicting interpretations of pathogenicityrs199907548RCV000115331|RCV000122945|RCV000212398|RCV000412396|RCV000761151|RCV001001912|RCV001292944|RCV001535568; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MedGen:CN517202|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0020660,MedGen:C1704328|MedGen:CN169374|MONDO:M92197468121974681AG9:g.21974681A>GClinGen:CA287160,UniProtKB:P42771#VAR_001422C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.122C>A (p.Pro41Gln)1029CDKN2AUncertain significancers373407950RCV000129476|RCV000465583|RCV000764830|RCV000781220|RCV001588980; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560; MONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:618; MONDO:MONDO:0092197470521974705GT9:g.21974705G>TClinGen:CA164489C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro)1029CDKN2APathogenic/Likely pathogenicrs104894097RCV000010022|RCV000167312|RCV000236320|RCV000410204|RCV000472219|RCV000763193; NMONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:6192197475621974756CG9:g.21974756C>GClinGen:CA120395,UniProtKB:P42771#VAR_001414,OMIM:600160.0008C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp)1029CDKN2APathogenic/Likely pathogenicrs1064794292RCV000478527|RCV000807478|RCV001025782|RCV001310108; NMedGen:CN517202|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197475921974759CT9:g.21974759C>TClinGen:CA16618835CN517202 not provided;
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del)1029CDKN2AConflicting interpretations of pathogenicityrs587780668RCV000197052|RCV000409781|RCV000566263|RCV000587112|RCV000709073|RCV001255216; NMONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN517202|MONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:6192197479521974818AGGCTCCATGCTGCTCCCCGCCGCCA9:g.21974795_21974818delClinGen:CA336947C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.32C>T (p.Pro11Leu)1029CDKN2AUncertain significancers1374664673RCV000709074|RCV000988164|RCV001177422|RCV001861941; NMONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:618|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:61892197479521974795GA9:g.21974795G>A-C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.26T>C (p.Met9Thr)1029CDKN2AUncertain significancers145445140RCV000566622|RCV000988165|RCV001858282; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:61892197480121974801AG9:g.21974801A>GClinGen:CA373086695C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.19_23dup (p.Ser8fs)1029CDKN2APathogenic-1RCV000030680; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197480321974804GGCTGCT21974803OMIM:600160.0022C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.-2G>A1029CDKN2ABenign/Likely benignrs191394143RCV000129674|RCV000212397|RCV000410804|RCV000590031|RCV001512796; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MedGen:CN517202|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:61892197482821974828CT9:g.21974828C>TClinGen:CA294100C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.-14C>T1029CDKN2AConflicting interpretations of pathogenicityrs764244718RCV000205775|RCV000411551|RCV000428256|RCV000579472; NMONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MedGen:CN169374|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016292197484021974840GANC_000009.11:g.21974840G>AClinGen:CA349888C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.-25C>T1029CDKN2ABenign/Likely benignrs144481587RCV000115330|RCV000200981|RCV000204607|RCV000412304|RCV001753492; NMONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN169374|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MedGen:CN51720292197485121974851GA9:g.21974851G>AClinGen:CA151466C0027672 Hereditary cancer-predisposing syndrome;
NM_058195.4(CDKN2A):c.194-3652G>C1029CDKN2ABenign/Likely benignrs531597737RCV000663020|RCV000679206|RCV001188881|RCV001510925; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:61892197485921974859CG9:g.21974859C>G-C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_058195.4(CDKN2A):c.194-3653G>T1029CDKN2APathogenicrs1800586RCV000168189|RCV000160410|RCV000493169|RCV000576396|RCV000763194|RCV001762350; NMONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:6192197486021974860CANC_000009.11:g.21974860C>AClinGen:CA299030,OMIM:600160.0010C0027672 Hereditary cancer-predisposing syndrome;
NM_058195.4(CDKN2A):c.194-3653G>C1029CDKN2AConflicting interpretations of pathogenicityrs1800586RCV000236694|RCV000410324|RCV001020466|RCV001454127|RCV001722275; NMedGen:CN169374|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MedGen:CN51720292197486021974860CG9:g.21974860C>GClinGen:CA5012355C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_058195.4(CDKN2A):c.194-3653G>A1029CDKN2ALikely benignrs1800586RCV000439448|RCV000988166|RCV001460875; NMedGen:CN169374|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:61892197486021974860CT9:g.21974860C>TClinGen:CA16605829C1835044 155601 Cutaneous malignant melanoma 2;
NM_058195.4(CDKN2A):c.194-3834C>G1029CDKN2ALikely benignrs917599759RCV000988167; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197504121975041GC9:g.21975041G>C-
NM_058195.4(CDKN2A):c.194-3853_194-3852insGCG1029CDKN2ALikely benignrs1587341124RCV000988168; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197505921975060TTCGC9:g.21975059_21975060insCGC-
NM_058195.4(CDKN2A):c.194-3854_194-3853insGTG1029CDKN2ALikely benignrs1587341128RCV000988169; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092197506021975061TTCAC9:g.21975060_21975061insCAC-
NM_058195.4(CDKN2A):c.193+7A>G1029CDKN2ALikely benignrs770519197RCV000662765|RCV001481257; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:61892199413121994131TC9:g.21994131T>C-C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_058195.4(CDKN2A):c.167G>A (p.Gly56Glu)1029CDKN2AUncertain significancers748327367RCV000542585|RCV000566041|RCV000663196|RCV001775859; NMONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MedGen:CN51720292199416421994164CT9:g.21994164C>TClinGen:CA5012379C0027672 Hereditary cancer-predisposing syndrome;
NM_058195.4(CDKN2A):c.92C>G (p.Thr31Arg)1029CDKN2AConflicting interpretations of pathogenicityrs528789830RCV000255508|RCV000535017|RCV000663088|RCV001019130|RCV001705403; NMedGen:CN169374|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN51720292199423921994239GC9:g.21994239G>CClinGen:CA5012391C1512419 Hereditary cutaneous melanoma;
NM_058195.4(CDKN2A):c.79A>C (p.Ile27Leu)1029CDKN2AUncertain significancers1057517575RCV000412466|RCV000819361|RCV001566292; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MedGen:CN51720292199425221994252TG9:g.21994252T>GClinGen:CA16042110C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_058195.4(CDKN2A):c.69C>T (p.Phe23=)1029CDKN2ABenign/Likely benignrs374360796RCV000124231|RCV000411993|RCV000558065|RCV000569047|RCV000679794; NMedGen:CN169374|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MedGen:CN51720292199426221994262GA9:g.21994262G>AClinGen:CA290031C0027672 Hereditary cancer-predisposing syndrome;
NM_058195.4(CDKN2A):c.69C>A (p.Phe23Leu)1029CDKN2AUncertain significancers374360796RCV000411867; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092199426221994262GTNC_000009.11:g.21994262G>TClinGen:CA5012396C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_058195.4(CDKN2A):c.62G>A (p.Arg21Lys)1029CDKN2AUncertain significancers1057517601RCV000409123|RCV000543250|RCV000999146|RCV001025104; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MedGen:CN517202|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:14016292199426921994269CT9:g.21994269C>TClinGen:CA16042111C1512419 Hereditary cutaneous melanoma;
NM_058195.4(CDKN2A):c.43T>C (p.Cys15Arg)1029CDKN2AUncertain significancers1554659236RCV000662739|RCV001022430|RCV001855405; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:61892199428821994288AG9:g.21994288A>G-C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_058195.4(CDKN2A):c.13T>A (p.Phe5Ile)1029CDKN2AUncertain significancers776987532RCV000409400|RCV000638997|RCV000679793; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618|MedGen:CN51720292199431821994318ATNC_000009.11:g.21994318A>TClinGen:CA5012402C1512419 Hereditary cutaneous melanoma;
NM_058195.4(CDKN2A):c.-28C>G1029CDKN2ALikely benignrs149253558RCV000663294|RCV001704149; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560|MedGen:CN51720292199435821994358GCNC_000009.11:g.21994358G>CClinGen:CA299052C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_058195.4(CDKN2A):c.-33G>A1029CDKN2AUncertain significancers1057517639RCV000409076; NMONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:40456092199436321994363CTNC_000009.11:g.21994363C>TClinGen:CA16042112C1838547 606719 Melanoma-pancreatic cancer syndrome;
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