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Examples Gene: MT-ND1, POLG, Region: M:1-1000 Variant: m.8993T>G, 1:g.10042757T>C rs3888511 MSCV_0000006, ClinVar: RCV000000015, Disease: Leigh syndrome, Phenotype: Retinopathy

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

Disease Browser
Parent Node: Melanoma (D008545)
Parent Node: Neoplastic Syndromes, Hereditary (D009386)
Parent Node: Pancreatic Neoplasms (D010190)
..Starting node ..Melanoma-Pancreatic Cancer Syndrome (C563985)
Child Nodes:
Sister Nodes:
..Adenoma, Islet Cell (D007516) 2
..Carcinoma, Islet Cell (D018273) 4
..Carcinoma, Pancreatic Ductal (D021441)
..Gastro-enteropancreatic neuroendocrine tumor (C535650)
..Islet cell tumor syndrome (C531777)
..Melanoma-Pancreatic Cancer Syndrome (C563985)
..Non functioning pancreatic endocrine tumor (C536126)
..Pancreatic adenoma (C538110)
..Pancreatic cancer, adult (C535836)
..Pancreatic Carcinoma (C562463)
..Pancreatic carcinoma, familial (C535837)
..Pancreatic Intraductal Neoplasms (D000077779)
..Pancreatic Lymphoma, Familial (C566516)
..Pancreatoblastoma (C537162)
..Pheochromocytoma Islet Cell Tumor Syndrome (C566807)
Human Disease MESH is developed by UMLS. Further data from MedGen, OMIM,ClinVar, CTD

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 :
Genes: CDKN2A; CHRNA1; CHRND; CHRNE;

Phenotypes

1	HP:0000006	Autosomal dominant inheritance
2	HP:0002861	Melanoma
3	HP:0012182	Oropharyngeal squamous cell carcinoma
4	HP:0006725	Pancreatic adenocarcinoma
5	HP:0012142	Pancreatic squamous cell carcinoma
6	HP:0100242	Sarcoma
7	HP:0002860	Squamous cell carcinoma

Disease Causing ClinVar Variants

Variation_Name	GeneID	GeneSymbol	ClinicalSignificance	dbSNP	RCVaccession	TestedInGTR	PhenotypeIDs	Chromosome	Start	Stop	HGVS_c	HGVS_p	HGVS_g	OtherIDs	Disease_ClinVar
NM_000077.5(CDKN2A):c.458-465G>C	1029	CDKN2A	Likely benign	rs563204204	RCV000411481;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21968706	21968706	C	G	9:g.21968706C>G	ClinGen:CA16042103	C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.458-491C>T	1029	CDKN2A	Conflicting interpretations of pathogenicity	rs181044510	RCV000120542\|RCV000412244\|RCV001575062\|RCV001762253;	N	MedGen:CN169374\|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560\|MedGen:CN517202\|MONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:618	9	21968732	21968732	G	A	9:g.21968732G>A	ClinGen:CA158070	C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.458-492G>C	1029	CDKN2A	Likely benign	rs527814073	RCV000120543\|RCV000411704;	N	MedGen:CN169374\|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21968733	21968733	C	G	9:g.21968733C>G	ClinGen:CA158072	C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.458-525G>T	1029	CDKN2A	Likely benign	rs1448745459	RCV000988144;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21968766	21968766	C	A	9:g.21968766C>A	-
NM_000077.5(CDKN2A):c.458-541A>G	1029	CDKN2A	Likely benign	rs938889880	RCV000411205;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21968782	21968782	T	C	NC_000009.11:g.21968782T>C	ClinGen:CA16042104	C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.457+1129C>T	1029	CDKN2A	Likely benign	rs774962789	RCV000988145;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21969772	21969772	G	A	9:g.21969772G>A	-
NM_000077.5(CDKN2A):c.457+83C>T	1029	CDKN2A	Likely benign	rs560686386	RCV000988146;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21970818	21970818	G	A	9:g.21970818G>A	-
NM_000077.5(CDKN2A):c.457+30C>T	1029	CDKN2A	Likely benign	rs780868128	RCV000988147;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21970871	21970871	G	A	9:g.21970871G>A	-
NM_000077.5(CDKN2A):c.457G>T (p.Asp153Tyr)	1029	CDKN2A	Pathogenic/Likely pathogenic	rs45476696	RCV000198192\|RCV000223581\|RCV000576665;	N	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	9	21970901	21970901	C	A	NC_000009.11:g.21970901C>A	ClinGen:CA337714	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.442G>A (p.Ala148Thr)	1029	CDKN2A	Benign	rs3731249	RCV000034482\|RCV000078114\|RCV000157755\|RCV000412408\|RCV001080122;	N	MedGen: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:618	9	21970916	21970916	C	T	9:g.21970916C>T	ClinGen:CA145730,UniProtKB:P42771#VAR_001486	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.430C>T (p.Arg144Cys)	1029	CDKN2A	Benign/Likely benign	rs116150891	RCV000034481\|RCV000120540\|RCV000160408\|RCV000410751\|RCV001080811;	N	MedGen: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:618	9	21970928	21970928	G	A	9:g.21970928G>A	ClinGen:CA158064,UniProtKB:P42771#VAR_001484	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.427G>A (p.Ala143Thr)	1029	CDKN2A	Uncertain significance	rs754195015	RCV000235756\|RCV000462732\|RCV000662465\|RCV000775628\|RCV000780109;	N	MedGen: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:CN169374	9	21970931	21970931	C	T	NC_000009.11:g.21970931C>T	ClinGen:CA5012158	C1512419 Hereditary cutaneous melanoma;
NM_000077.5(CDKN2A):c.415G>C (p.Gly139Arg)	1029	CDKN2A	Uncertain significance	rs587781733	RCV000198747\|RCV000663182\|RCV000773049\|RCV001357560;	N	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:CN517202	9	21970943	21970943	C	G	NC_000009.11:g.21970943C>G	ClinGen:CA338157	C1512419 Hereditary cutaneous melanoma;
NM_000077.5(CDKN2A):c.384G>A (p.Arg128=)	1029	CDKN2A	Benign/Likely benign	rs199901898	RCV000163455\|RCV000410792\|RCV000759024\|RCV000781221\|RCV001080226;	N	MONDO: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:618	9	21970974	21970974	C	T	9:g.21970974C>T	ClinGen:CA188331	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.379G>T (p.Ala127Ser)	1029	CDKN2A	Benign/Likely benign	rs6413464	RCV000034480\|RCV000120541\|RCV000129667\|RCV000411295\|RCV001081463;	N	MedGen: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:618	9	21970979	21970979	C	A	9:g.21970979C>A	ClinGen:CA158067,UniProtKB:P42771#VAR_001480	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.377T>A (p.Val126Asp)	1029	CDKN2A	Pathogenic	rs104894098	RCV000010027\|RCV000160413\|RCV000212403\|RCV000227154\|RCV000576733;	N	MONDO: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:40456	9	21970981	21970981	A	T	9:g.21970981A>T	ClinGen:CA120398,UniProtKB:P42771#VAR_001479,OMIM:600160.0013	C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.373G>C (p.Asp125His)	1029	CDKN2A	Conflicting interpretations of pathogenicity	rs146179135	RCV000034479\|RCV000122948\|RCV000166832\|RCV000410592\|RCV000855586;	N	MedGen: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:CN169374	9	21970985	21970985	C	G	9:g.21970985C>G	ClinGen:CA196825	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.370C>T (p.Arg124Cys)	1029	CDKN2A	Conflicting interpretations of pathogenicity	rs34170727	RCV000215702\|RCV000473505\|RCV000478053\|RCV000663297\|RCV001731445;	N	MONDO: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:CN169374	9	21970988	21970988	G	A	9:g.21970988G>A	ClinGen:CA5012170,UniProtKB:P42771#VAR_053032	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.369T>A (p.His123Gln)	1029	CDKN2A	Conflicting interpretations of pathogenicity	rs6413463	RCV000115336\|RCV000254655\|RCV000411383\|RCV000588888\|RCV000709065\|RCV001080834;	N	MONDO: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:C151	9	21970989	21970989	A	T	9:g.21970989A>T	ClinGen:CA287173,UniProtKB:P42771#VAR_001477	C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.369T>C (p.His123=)	1029	CDKN2A	Likely benign	rs6413463	RCV000205487\|RCV000575291\|RCV000988148\|RCV001284613;	N	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:CN517202	9	21970989	21970989	A	G	9:g.21970989A>G	ClinGen:CA349640	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.365G>T (p.Gly122Val)	1029	CDKN2A	Uncertain significance	rs373291490	RCV000205742\|RCV000561305\|RCV000586898\|RCV000764829\|RCV001260251;	N	MONDO: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:61	9	21970993	21970993	C	A	NC_000009.11:g.21970993C>A	ClinGen:CA299046	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.333C>T (p.Gly111=)	1029	CDKN2A	Uncertain significance	rs1490202463	RCV000988149;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21971025	21971025	G	A	9:g.21971025G>A	-
NM_000077.5(CDKN2A):c.331G>A (p.Gly111Ser)	1029	CDKN2A	Uncertain significance	rs778971134	RCV000539317\|RCV000662730\|RCV001019982;	N	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	9	21971027	21971027	C	T	NC_000009.11:g.21971027C>T	ClinGen:CA5012180	C1512419 Hereditary cutaneous melanoma;
NM_000077.5(CDKN2A):c.325G>C (p.Ala109Pro)	1029	CDKN2A	Uncertain significance	rs372481694	RCV000115335\|RCV000212402\|RCV000475093\|RCV001175531\|RCV001535740;	N	MONDO: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:15	9	21971033	21971033	C	G	9:g.21971033C>G	ClinGen:CA287168	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.318G>A (p.Val106=)	1029	CDKN2A	Conflicting interpretations of pathogenicity	rs199888003	RCV000160416\|RCV000212401\|RCV000590444\|RCV000988150\|RCV001050185;	N	MONDO: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:618	9	21971040	21971040	C	T	9:g.21971040C>T	ClinGen:CA299041	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.315C>A (p.Asp105Glu)	1029	CDKN2A	Conflicting interpretations of pathogenicity	rs763269347	RCV000467808\|RCV000569825\|RCV000709066\|RCV000663166;	N	MONDO: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:404560	9	21971043	21971043	G	T	NC_000009.11:g.21971043G>T	ClinGen:CA5012185	C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.301G>T (p.Gly101Trp)	1029	CDKN2A	Pathogenic	rs104894094	RCV000010019\|RCV000010018\|RCV000115334\|RCV000196633\|RCV000212400\|RCV000415140\|RCV000622260;	N	MONDO: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:CN51720	9	21971057	21971057	C	A	9:g.21971057C>A	OMIM:600160.0005,ClinGen:CA120387,UniProtKB:P42771#VAR_001464	C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.301G>A (p.Gly101Arg)	1029	CDKN2A	Uncertain significance	rs104894094	RCV000559321\|RCV000663041\|RCV000777266;	N	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	9	21971057	21971057	C	T	NC_000009.11:g.21971057C>T	ClinGen:CA373086108	C1512419 Hereditary cutaneous melanoma;
NM_000077.5(CDKN2A):c.298G>T (p.Ala100Ser)	1029	CDKN2A	Conflicting interpretations of pathogenicity	rs200863613	RCV000229571\|RCV000588034\|RCV000570355\|RCV000855587\|RCV000988151;	N	MONDO: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:404560	9	21971060	21971060	C	A	9:g.21971060C>A	ClinGen:CA287163	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.295C>G (p.Arg99Gly)	1029	CDKN2A	Uncertain significance	rs34886500	RCV000411399\|RCV000638975\|RCV001525391;	N	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	9	21971063	21971063	G	C	9:g.21971063G>C	ClinGen:CA16042105	C1512419 Hereditary cutaneous melanoma;
NM_000077.5(CDKN2A):c.285_288dup (p.Leu97fs)	1029	CDKN2A	Likely pathogenic	-1	RCV001523808;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21971069	21971070	G	GCACC	21971069	-
NM_000077.5(CDKN2A):c.281T>A (p.Leu94Gln)	1029	CDKN2A	Likely pathogenic	rs1819703656	RCV001310111;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21971077	21971077	A	T	21971077	-
NM_000077.5(CDKN2A):c.273G>A (p.Leu91=)	1029	CDKN2A	Conflicting interpretations of pathogenicity	rs4987127	RCV000120545\|RCV000411786\|RCV000570074\|RCV000656828\|RCV001080130;	N	MedGen: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:618	9	21971085	21971085	C	T	9:g.21971085C>T	ClinGen:CA158074	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.259C>T (p.Arg87Trp)	1029	CDKN2A	Likely pathogenic	rs749714198	RCV000457482\|RCV000481993\|RCV000580123\|RCV000988152;	N	MONDO: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	9	21971099	21971099	G	A	9:g.21971099G>A	ClinGen:CA5012197	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.240_253del (p.Pro81fs)	1029	CDKN2A	Pathogenic	rs730881675	RCV000160406\|RCV000458351\|RCV000576843;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618\|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21971105	21971118	GCGTCGTGCACGGGT	G	NC_000009.11:g.21971107_21971120del	ClinGen:CA299024	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.250G>A (p.Asp84Asn)	1029	CDKN2A	Conflicting interpretations of pathogenicity	rs11552822	RCV000214736\|RCV000474240\|RCV000988153;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618\|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21971108	21971108	C	T	9:g.21971108C>T	ClinGen:CA10578842,UniProtKB:P42771#VAR_001448	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.226_244del (p.Ala76fs)	1029	CDKN2A	Pathogenic; risk factor	rs587776716	RCV000010013\|RCV000010015;	N	MONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:618\|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21971114	21971132	ACGGGTCGGGTGAGAGTGGC	A	NC_000009.11:g.21971114_21971132del	ClinGen:CA120386,OMIM:600160.0003
NM_000077.5(CDKN2A):c.221A>C (p.Asp74Ala)	1029	CDKN2A	Uncertain significance	rs200429615	RCV000988154;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21971137	21971137	T	G	9:g.21971137T>G	-
NM_000077.5(CDKN2A):c.220G>C (p.Asp74His)	1029	CDKN2A	Uncertain significance	rs760640852	RCV000988155;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21971138	21971138	C	G	9:g.21971138C>G	-
NM_000077.5(CDKN2A):c.197A>G (p.His66Arg)	1029	CDKN2A	Conflicting interpretations of pathogenicity	rs756750256	RCV000236358\|RCV000461748\|RCV000564503\|RCV000988156\|RCV001705313;	N	MedGen: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:CN517202	9	21971161	21971161	T	C	9:g.21971161T>C	ClinGen:CA5012211	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.176T>G (p.Val59Gly)	1029	CDKN2A	Pathogenic/Likely pathogenic	rs104894099	RCV000010030\|RCV000409228\|RCV000494082\|RCV000545232\|RCV001800291;	N	MONDO: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:CN51720	9	21971182	21971182	A	C	9:g.21971182A>C	ClinGen:CA120402,UniProtKB:P42771#VAR_001427,OMIM:600160.0016	C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.174A>C (p.Arg58=)	1029	CDKN2A	Benign/Likely benign	rs201208890	RCV000116169\|RCV000120544\|RCV000411859\|RCV000759746\|RCV001080795;	N	MONDO: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:618	9	21971184	21971184	T	G	9:g.21971184T>G	ClinGen:CA151535	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.170C>T (p.Ala57Val)	1029	CDKN2A	Conflicting interpretations of pathogenicity	rs372266620	RCV000215562\|RCV000587917\|RCV000988157\|RCV001079843\|RCV001762442;	N	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:618\|MONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:61	9	21971188	21971188	G	A	9:g.21971188G>A	ClinGen:CA350362,UniProtKB:P42771#VAR_001426	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.160A>C (p.Met54Leu)	1029	CDKN2A	Uncertain significance	rs201314211	RCV000546717\|RCV000565661\|RCV000759744\|RCV000709069\|RCV000988158;	N	MONDO: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:40456	9	21971198	21971198	T	G	9:g.21971198T>G	ClinGen:CA5012217	C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.151-1G>A	1029	CDKN2A	Pathogenic	rs730881677	RCV000786788\|RCV001310109;	N	MedGen:CN517202\|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21971208	21971208	C	T	9:g.21971208C>T	-
NM_000077.5(CDKN2A):c.151-4G>C	1029	CDKN2A	Conflicting interpretations of pathogenicity	rs529380972	RCV000130188\|RCV000410358\|RCV000431130\|RCV000467989\|RCV000585904\|RCV001258294;	N	MONDO: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 P	9	21971211	21971211	C	G	9:g.21971211C>G	ClinGen:CA165905	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.151-14G>A	1029	CDKN2A	Benign/Likely benign	rs767030551	RCV000411520\|RCV000423535\|RCV000580393;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560\|MedGen:CN169374\|MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162	9	21971221	21971221	C	T	NC_000009.11:g.21971221C>T	ClinGen:CA5012222	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.151-66A>G	1029	CDKN2A	Likely benign	rs890179220	RCV000988159;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21971273	21971273	T	C	9:g.21971273T>C	-
NM_000077.5(CDKN2A):c.150+1104C>A	1029	CDKN2A	Uncertain significance	rs756102261	RCV000411164\|RCV000507646\|RCV001537554;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560\|MedGen:CN169374\|MedGen:CN517202	9	21973573	21973573	G	T	NC_000009.11:g.21973573G>T	ClinGen:CA350214	C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.150+1104C>T	1029	CDKN2A	Likely benign	rs756102261	RCV000410912;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21973573	21973573	G	A	NC_000009.11:g.21973573G>A	ClinGen:CA16042106	C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.150+280C>T	1029	CDKN2A	Likely benign	rs150201743	RCV000988160;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21974397	21974397	G	A	9:g.21974397G>A	-
NM_000077.5(CDKN2A):c.150+216A>G	1029	CDKN2A	Likely benign	rs147602781	RCV000410102;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21974461	21974461	T	C	9:g.21974461T>C	ClinGen:CA5012250	C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.150+193G>A	1029	CDKN2A	Likely benign	rs1057517587	RCV000411058;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21974484	21974484	C	T	NC_000009.11:g.21974484C>T	ClinGen:CA16042107	C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.150+170dup	1029	CDKN2A	Likely benign	rs753316964	RCV000663064;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21974506	21974507	C	CA	9:g.21974506_21974507insA	-	C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.150+137T>G	1029	CDKN2A	Likely benign	rs1587338978	RCV000988161;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21974540	21974540	A	C	9:g.21974540A>C	-
NM_000077.5(CDKN2A):c.150+104_150+105del	1029	CDKN2A	Likely benign	rs1057517608	RCV000409027;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21974572	21974573	CCT	C	NC_000009.11:g.21974572_21974573del	ClinGen:CA16042108	C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.150+82A>G	1029	CDKN2A	Uncertain significance	rs1231900408	RCV000709070\|RCV000988162;	N	MONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:618\|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21974595	21974595	T	C	9:g.21974595T>C	-	C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.150+71_150+76del	1029	CDKN2A	Likely benign	rs753508262	RCV000410693;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21974601	21974606	GATTCCA	G	NC_000009.11:g.21974606_21974611del	ClinGen:CA5012285	C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.150+40C>T	1029	CDKN2A	Likely benign	rs1057517604	RCV000410315;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21974637	21974637	G	A	9:g.21974637G>A	ClinGen:CA16042109	C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.150+37G>C	1029	CDKN2A	Conflicting interpretations of pathogenicity	rs45456595	RCV000034475\|RCV000120548\|RCV000204895\|RCV000411071\|RCV000709071\|RCV001013481;	N	MedGen: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:C002767	9	21974640	21974640	C	G	9:g.21974640C>G	ClinGen:CA158086	C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.150+20C>T	1029	CDKN2A	Likely benign	rs550846229	RCV000120547\|RCV000583339\|RCV000662891\|RCV002055325;	N	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:618	9	21974657	21974657	G	A	9:g.21974657G>A	ClinGen:CA158084	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.150+11G>A	1029	CDKN2A	Likely benign	rs1587339427	RCV000988163;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21974666	21974666	C	T	9:g.21974666C>T	-
NM_000077.5(CDKN2A):c.146T>C (p.Ile49Thr)	1029	CDKN2A	Conflicting interpretations of pathogenicity	rs199907548	RCV000115331\|RCV000122945\|RCV000212398\|RCV000412396\|RCV000761151\|RCV001001912\|RCV001292944\|RCV001535568;	N	MONDO: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:M	9	21974681	21974681	A	G	9:g.21974681A>G	ClinGen:CA287160,UniProtKB:P42771#VAR_001422	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.122C>A (p.Pro41Gln)	1029	CDKN2A	Uncertain significance	rs373407950	RCV000129476\|RCV000465583\|RCV000764830\|RCV000781220\|RCV001588980;	N	MONDO: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:00	9	21974705	21974705	G	T	9:g.21974705G>T	ClinGen:CA164489	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.71G>C (p.Arg24Pro)	1029	CDKN2A	Pathogenic/Likely pathogenic	rs104894097	RCV000010022\|RCV000167312\|RCV000236320\|RCV000410204\|RCV000472219\|RCV000763193;	N	MONDO: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:61	9	21974756	21974756	C	G	9:g.21974756C>G	ClinGen:CA120395,UniProtKB:P42771#VAR_001414,OMIM:600160.0008	C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.68G>A (p.Gly23Asp)	1029	CDKN2A	Pathogenic/Likely pathogenic	rs1064794292	RCV000478527\|RCV000807478\|RCV001025782\|RCV001310108;	N	MedGen: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	9	21974759	21974759	C	T	9:g.21974759C>T	ClinGen:CA16618835	CN517202 not provided;
NM_000077.5(CDKN2A):c.-16GGCGGCGGGGAGCAGCATGGAGCC[1] (p.Ala4_Pro11del)	1029	CDKN2A	Conflicting interpretations of pathogenicity	rs587780668	RCV000197052\|RCV000409781\|RCV000566263\|RCV000587112\|RCV000709073\|RCV001255216;	N	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:CN517202\|MONDO:MONDO:0007964,MedGen:C1835044,OMIM:155601, Orphanet:61	9	21974795	21974818	AGGCTCCATGCTGCTCCCCGCCGCC	A	9:g.21974795_21974818del	ClinGen:CA336947	C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.32C>T (p.Pro11Leu)	1029	CDKN2A	Uncertain significance	rs1374664673	RCV000709074\|RCV000988164\|RCV001177422\|RCV001861941;	N	MONDO: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	9	21974795	21974795	G	A	9:g.21974795G>A	-	C1835044 155601 Cutaneous malignant melanoma 2;
NM_000077.5(CDKN2A):c.26T>C (p.Met9Thr)	1029	CDKN2A	Uncertain significance	rs145445140	RCV000566622\|RCV000988165\|RCV001858282;	N	MONDO:MONDO:0015356,MeSH:D009386,MedGen:C0027672, Orphanet:140162\|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560\|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618	9	21974801	21974801	A	G	9:g.21974801A>G	ClinGen:CA373086695	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.19_23dup (p.Ser8fs)	1029	CDKN2A	Pathogenic	-1	RCV000030680;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21974803	21974804	G	GCTGCT	21974803	OMIM:600160.0022	C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_000077.5(CDKN2A):c.-2G>A	1029	CDKN2A	Benign/Likely benign	rs191394143	RCV000129674\|RCV000212397\|RCV000410804\|RCV000590031\|RCV001512796;	N	MONDO: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:618	9	21974828	21974828	C	T	9:g.21974828C>T	ClinGen:CA294100	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.-14C>T	1029	CDKN2A	Conflicting interpretations of pathogenicity	rs764244718	RCV000205775\|RCV000411551\|RCV000428256\|RCV000579472;	N	MONDO: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:140162	9	21974840	21974840	G	A	NC_000009.11:g.21974840G>A	ClinGen:CA349888	C0027672 Hereditary cancer-predisposing syndrome;
NM_000077.5(CDKN2A):c.-25C>T	1029	CDKN2A	Benign/Likely benign	rs144481587	RCV000115330\|RCV000200981\|RCV000204607\|RCV000412304\|RCV001753492;	N	MONDO: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:CN517202	9	21974851	21974851	G	A	9:g.21974851G>A	ClinGen:CA151466	C0027672 Hereditary cancer-predisposing syndrome;
NM_058195.4(CDKN2A):c.194-3652G>C	1029	CDKN2A	Benign/Likely benign	rs531597737	RCV000663020\|RCV000679206\|RCV001188881\|RCV001510925;	N	MONDO: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:618	9	21974859	21974859	C	G	9:g.21974859C>G	-	C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_058195.4(CDKN2A):c.194-3653G>T	1029	CDKN2A	Pathogenic	rs1800586	RCV000168189\|RCV000160410\|RCV000493169\|RCV000576396\|RCV000763194\|RCV001762350;	N	MONDO: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:61	9	21974860	21974860	C	A	NC_000009.11:g.21974860C>A	ClinGen:CA299030,OMIM:600160.0010	C0027672 Hereditary cancer-predisposing syndrome;
NM_058195.4(CDKN2A):c.194-3653G>C	1029	CDKN2A	Conflicting interpretations of pathogenicity	rs1800586	RCV000236694\|RCV000410324\|RCV001020466\|RCV001454127\|RCV001722275;	N	MedGen: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:CN517202	9	21974860	21974860	C	G	9:g.21974860C>G	ClinGen:CA5012355	C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_058195.4(CDKN2A):c.194-3653G>A	1029	CDKN2A	Likely benign	rs1800586	RCV000439448\|RCV000988166\|RCV001460875;	N	MedGen:CN169374\|MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560\|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618	9	21974860	21974860	C	T	9:g.21974860C>T	ClinGen:CA16605829	C1835044 155601 Cutaneous malignant melanoma 2;
NM_058195.4(CDKN2A):c.194-3834C>G	1029	CDKN2A	Likely benign	rs917599759	RCV000988167;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21975041	21975041	G	C	9:g.21975041G>C	-
NM_058195.4(CDKN2A):c.194-3853_194-3852insGCG	1029	CDKN2A	Likely benign	rs1587341124	RCV000988168;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21975059	21975060	T	TCGC	9:g.21975059_21975060insCGC	-
NM_058195.4(CDKN2A):c.194-3854_194-3853insGTG	1029	CDKN2A	Likely benign	rs1587341128	RCV000988169;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21975060	21975061	T	TCAC	9:g.21975060_21975061insCAC	-
NM_058195.4(CDKN2A):c.193+7A>G	1029	CDKN2A	Likely benign	rs770519197	RCV000662765\|RCV001481257;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560\|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618	9	21994131	21994131	T	C	9:g.21994131T>C	-	C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_058195.4(CDKN2A):c.167G>A (p.Gly56Glu)	1029	CDKN2A	Uncertain significance	rs748327367	RCV000542585\|RCV000566041\|RCV000663196\|RCV001775859;	N	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:CN517202	9	21994164	21994164	C	T	9:g.21994164C>T	ClinGen:CA5012379	C0027672 Hereditary cancer-predisposing syndrome;
NM_058195.4(CDKN2A):c.92C>G (p.Thr31Arg)	1029	CDKN2A	Conflicting interpretations of pathogenicity	rs528789830	RCV000255508\|RCV000535017\|RCV000663088\|RCV001019130\|RCV001705403;	N	MedGen: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:CN517202	9	21994239	21994239	G	C	9:g.21994239G>C	ClinGen:CA5012391	C1512419 Hereditary cutaneous melanoma;
NM_058195.4(CDKN2A):c.79A>C (p.Ile27Leu)	1029	CDKN2A	Uncertain significance	rs1057517575	RCV000412466\|RCV000819361\|RCV001566292;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560\|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618\|MedGen:CN517202	9	21994252	21994252	T	G	9:g.21994252T>G	ClinGen:CA16042110	C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_058195.4(CDKN2A):c.69C>T (p.Phe23=)	1029	CDKN2A	Benign/Likely benign	rs374360796	RCV000124231\|RCV000411993\|RCV000558065\|RCV000569047\|RCV000679794;	N	MedGen: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:CN517202	9	21994262	21994262	G	A	9:g.21994262G>A	ClinGen:CA290031	C0027672 Hereditary cancer-predisposing syndrome;
NM_058195.4(CDKN2A):c.69C>A (p.Phe23Leu)	1029	CDKN2A	Uncertain significance	rs374360796	RCV000411867;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21994262	21994262	G	T	NC_000009.11:g.21994262G>T	ClinGen:CA5012396	C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_058195.4(CDKN2A):c.62G>A (p.Arg21Lys)	1029	CDKN2A	Uncertain significance	rs1057517601	RCV000409123\|RCV000543250\|RCV000999146\|RCV001025104;	N	MONDO: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:140162	9	21994269	21994269	C	T	9:g.21994269C>T	ClinGen:CA16042111	C1512419 Hereditary cutaneous melanoma;
NM_058195.4(CDKN2A):c.43T>C (p.Cys15Arg)	1029	CDKN2A	Uncertain significance	rs1554659236	RCV000662739\|RCV001022430\|RCV001855405;	N	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	9	21994288	21994288	A	G	9:g.21994288A>G	-	C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_058195.4(CDKN2A):c.13T>A (p.Phe5Ile)	1029	CDKN2A	Uncertain significance	rs776987532	RCV000409400\|RCV000638997\|RCV000679793;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560\|MONDO:MONDO:0018961,MedGen:C1512419, Orphanet:618\|MedGen:CN517202	9	21994318	21994318	A	T	NC_000009.11:g.21994318A>T	ClinGen:CA5012402	C1512419 Hereditary cutaneous melanoma;
NM_058195.4(CDKN2A):c.-28C>G	1029	CDKN2A	Likely benign	rs149253558	RCV000663294\|RCV001704149;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560\|MedGen:CN517202	9	21994358	21994358	G	C	NC_000009.11:g.21994358G>C	ClinGen:CA299052	C1838547 606719 Melanoma-pancreatic cancer syndrome;
NM_058195.4(CDKN2A):c.-33G>A	1029	CDKN2A	Uncertain significance	rs1057517639	RCV000409076;	N	MONDO:MONDO:0011713,MedGen:C1838547,OMIM:606719, Orphanet:404560	9	21994363	21994363	C	T	NC_000009.11:g.21994363C>T	ClinGen:CA16042112	C1838547 606719 Melanoma-pancreatic cancer syndrome;

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