Full data view for gene CDKN2A

Information The variants shown are described using the transcript reference sequence.

494 entries on 5 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

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Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/+ 1 c.(?_-19664)_(*477_?)del r.0 p.0 Unknown - VUS g.(21800000_21967751)_(21994490_22050000)del - whole gene deletion - CDKN2A_000159 de novo, in patient; ~155 kb deletion includes CDKN2B, CDKN2A and part of MTAP, boundaries NOT defined. - - - De novo - - - 0 - DNA MLPA - - melanoma - - ~155 kb deletion includes CDKN2B, CDKN2A and part of MTAP. Boundaries NOT defined. F - Netherlands - - 0 - - 1 Janneke Weiss
?/. _1 c.-19513G>A - - Parent #1 - VUS g.21994339C>T g.21994340C>T - - CDKN2A_000175 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
?/. _1 c.-19462T>C - - Parent #1 - VUS g.21994288A>G g.21994289A>G - - CDKN2A_000174 - Thibodeau lab (Mayo Clinic) - - Germline - - - 0 - DNA SEQ-NG-I blood - CRC - - gene panel study on colon cancer cases - - United States - - 0 data for MLH1, MLH3, MSH2, MSH3, MSH6, MUTYH, PMS2 in the LOVD Insight database - 1 Melissa DeRycke
-?/. - c.-19433G>T r.(?) p.(=) Unknown - likely benign g.21994259C>A g.21994260C>A CDKN2A(NM_058195.3):c.72G>T (p.V24=) - CDKN2A_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-19312G>C r.(?) p.(=) Unknown - pathogenic g.21994138C>G g.21994139C>G - - CDKN2A_000191 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/- 1b c.-19311G>A r.(?) p.? Unknown - pathogenic g.21994137C>T g.21994138C>T c.193+1G>A - CDKN2A_000154 Splicing affected; cryptic splice donor site activated at -12 in p14ARF (NM_058195.3) 5'UTR, acceptor site activated in exon 2 at base 463. - - - Germline - - - 0 - DNA SEQ - - melanoma - - - - - Netherlands Dutch - 0 - - 1 Johan den Dunnen
-/- 1b c.-19311G>A r.(?) p.? Unknown - pathogenic g.21994137C>T g.21994138C>T c.193+1G>A - CDKN2A_000154 Splicing affected; cryptic splice donor site activated at -12 in p14ARF (NM_058195.3) 5'UTR, acceptor site activated in exon 2 at base 463. - - - Germline - - - 0 - DNA SEQ - - ? - - - - - Netherlands Dutch - 0 - - 1 Johan den Dunnen
?/- 1b c.-19311G>A r.(?) p.? Unknown - VUS g.21994137C>T g.21994138C>T c.193+1G>A - CDKN2A_000154 Splicing affected; cryptic splice donor site activated at -12 in p14ARF (NM_058195.3) 5'UTR, acceptor site activated in exon 2 at base 463. - - - Germline - - - 0 - DNA SEQ - - melanoma - - - F - Netherlands - - 0 - - 1 Johan den Dunnen
?/? 1a c.-95G>A r.(?) p.(=) Unknown - VUS g.21974921C>T g.21974922C>T - - CDKN2A_000156 - - - - Germline - - - 0 - DNA SEQ - - melanoma - - - - - Netherlands - - 0 - - 1 Janneke Weiss
+/. 1 c.-34G>T r.(?) p.(=) Unknown - pathogenic g.21974860C>A g.21974861C>A - - CDKN2A_000181 creates new translation start site PubMed: Eliason 2006 - - Germline yes - - 0 - DNA SEQ - - melanoma 16397522-Fam PubMed: Eliason 2006 2 families - - United States Utah - 0 - - 1 Johan den Dunnen
?/? 1 c.-33G>C r.(?) p.(=) Unknown - VUS g.21974859C>G g.21974860C>G - - CDKN2A_000155 - - - - Germline - - - 0 - DNA SEQ - - melanoma - - - - - Netherlands - - 0 - - 1 Carli Tops
-/. 1 c.-33G>C r.(?) p.(=) Unknown - benign g.21974859C>G g.21974860C>G - - CDKN2A_000155 - PubMed: Eliason 2006 - - Germline no - - 0 - DNA SEQ - - melanoma 16397522-Fam PubMed: Eliason 2006 - - - United States Utah - 0 - - 1 Johan den Dunnen
?/? 1a c.-25C>T r.(?) p.(=) Unknown - VUS g.21974851G>A g.21974852G>A - - CDKN2A_000157 - - - - Germline - - - 0 - DNA SEQ - - melanoma - - - F - Netherlands - - 0 - - 1 Janneke Weiss
?/. 1 c.-25C>T r.(?) p.(=) Unknown - VUS g.21974851G>A g.21974852G>A - - CDKN2A_000157 - PubMed: Eliason 2006 - - Germline yes - - 0 - DNA SEQ - - melanoma 16397522-Fam PubMed: Eliason 2006 - - - United States Utah - 0 - - 1 Johan den Dunnen
?/? 1a c.9_32del r.(?) p.Ala4_Pro11del Unknown - VUS g.21974795_21974818del g.21974796_21974819del c.8_33del24 - CDKN2A_000001 This deletion causes the loss of 8 residues. Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Bishop 2002 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Bishop 2002 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.9_32del r.(?) p.Ala4_Pro11del Unknown - VUS g.21974795_21974818del g.21974796_21974819del c.8_33del24 - CDKN2A_000001 This deletion causes the loss of 8 residues. Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Aitken 1999 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Aitken 1999 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.9_32del r.(?) p.Ala4_Pro11del Unknown - VUS g.21974795_21974818del g.21974796_21974819del c.8_33del24 - CDKN2A_000001 This deletion causes the loss of 8 residues. Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Schraml 2001 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Schraml 2001 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.9_32del r.(?) p.Ala4_Pro11del Unknown - VUS g.21974795_21974818del g.21974796_21974819del c.8_33del24 - CDKN2A_000001 This deletion causes the loss of 8 residues. Variant Error [EMISMATCH/0]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Goldstein 2007 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Goldstein 2007 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.9_32dup r.(?) p.Met1_Ser8dup (or p.Ala4_Pro11dup) Unknown - VUS g.21974795_21974818dup g.21974796_21974819dup - - CDKN2A_000002 This duplication causes the duplication of 8 residue(s). Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Monzon 1998 - - Germline - - - 0 - DNA PCR, SEQ - - ? - PubMed: Monzon 1998 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.9_32dup r.(?) p.Met1_Ser8dup (or p.Ala4_Pro11dup) Unknown - VUS g.21974795_21974818dup g.21974796_21974819dup - - CDKN2A_000002 This duplication causes the duplication of 8 residue(s). Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Harland 1997 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Harland 1997 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.9_32dup r.(?) p.Met1_Ser8dup (or p.Ala4_Pro11dup) Unknown - VUS g.21974795_21974818dup g.21974796_21974819dup - - CDKN2A_000002 This duplication causes the duplication of 8 residue(s). Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Walker 1995 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Walker 1995 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.9_32dup r.(?) p.(Ala4_Pro11dup) Unknown - VUS g.21974819_21974842dup g.21974820_21974843dup 32ins24 - CDKN2A_000002 - PubMed: Eliason 2006 - - Germline yes - - 0 - DNA SEQ - - melanoma 16397522-Fam PubMed: Eliason 2006 one family - - United States Utah - 0 - - 1 Johan den Dunnen
?/? 1a c.9_32dup r.(?) p.Met1_Ser8dup (or p.Ala4_Pro11dup) Unknown - VUS g.21974795_21974818dup g.21974796_21974819dup - - CDKN2A_000002 This duplication causes the duplication of 8 residue(s). Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Goldstein 2007 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Goldstein 2007 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.9_32dup r.(?) p.(Ala4_Pro11dup) Unknown - VUS g.21974819_21974842dup g.21974820_21974843dup 32–33ins9–32 - CDKN2A_000002 - PubMed: Lang 2005 - - Germline - - - 0 - DNA SEQ - - melanoma 16307646Fam28 PubMed: Lang 2005 - M - Scotland - - 0 - - 2 Johan den Dunnen
?/? 1a c.9_32dup r.(?) p.Met1_Ser8dup (or p.Ala4_Pro11dup) Unknown - VUS g.21974795_21974818dup g.21974796_21974819dup - - CDKN2A_000002 This duplication causes the duplication of 8 residue(s). Variant Error [EMISMATCH/ESYNTAX]: This transcript variant has an error. Please fix this entry and then remove this message. PubMed: Flores 1997 - - Germline - - - 0 - DNA SEQ - - ? - PubMed: Flores 1997 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.10G>A r.(?) p.(Ala4Thr) Unknown - VUS g.21974817C>T g.21974818C>T A4T - CDKN2A_000003 Unclear nomenclature PubMed: Eliason 2006 - - Germline no - - 0 - DNA SEQ - - melanoma - PubMed: Eliason 2006 - - - United States Utah - 0 - - 1 Johan den Dunnen
+/. 1 c.10_23dup r.(?) p.(Ser8Argfs*23) Unknown - pathogenic g.21974805_21974818dup g.21974806_21974819dup 23ins24bp - CDKN2A_000180 - PubMed: Blackwood 2002 - - Germline - - - 0 - DNA SEQ - - melanoma 12001124-M063 PubMed: Blackwood 2002 - - - ? (unknown) - - 0 - - 1 Johan den Dunnen
?/? 1a c.18_19ins(6) r.(?) p.? Unknown - VUS g.21974808_21974809ins(6) - 18_19ins6 - CDKN2A_000004 - PubMed: Goldstein 2007 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Goldstein 2007 - - - - - - 0 - - 1 Johan den Dunnen
?/+ 1a c.19_23dup r.(?) p.Ser8fs Unknown - VUS g.21974805_21974809dup g.21974806_21974810dup - - CDKN2A_000158 - - - - Germline - - - 0 - DNA SEQ - - syndrome, melanoma-pancreatic cancer - - - M - Netherlands - - 0 - - 1 Janneke Weiss
+/. 1a c.44G>A r.(?) p.Trp15X Unknown - pathogenic g.21974783C>T g.21974784C>T - - CDKN2A_000005 Nonsense substitution. PubMed: FitzGerald 1996 - - Germline - - - 0 - DNA PCR, SEQ - - melanoma - PubMed: FitzGerald 1996 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1a c.44G>A r.(?) p.Trp15X Unknown - pathogenic g.21974783C>T g.21974784C>T - - CDKN2A_000005 Nonsense substitution. PubMed: Bishop 2002 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Bishop 2002 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1a c.44G>A r.(?) p.Trp15X Unknown - pathogenic g.21974783C>T g.21974784C>T - - CDKN2A_000005 Nonsense substitution. PubMed: Goldstein 2007 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Goldstein 2007 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1a c.44G>A r.(?) p.Trp15X Unknown - pathogenic g.21974783C>T g.21974784C>T - - CDKN2A_000005 Nonsense substitution. PubMed: Ruas 1998 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Ruas 1998 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1a c.45G>A r.(?) p.Trp15X Unknown - pathogenic g.21974782C>T g.21974783C>T - - CDKN2A_000006 Nonsense substitution. PubMed: Holland 1999 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Holland 1999 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1a c.46del r.(?) p.(Leu16TrpfsTer10) Unknown - pathogenic g.21974781del g.21974782del - - CDKN2A_000007 The new reading frame ends in a STOP codon 9 positions downstream. PubMed: Bishop 2002 - - Germline - - - 0 - DNA PCR, SEQ - - melanoma - PubMed: Bishop 2002 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1a c.46del r.(?) p.(Leu16TrpfsTer10) Unknown - pathogenic g.21974781del g.21974782del - - CDKN2A_000007 The new reading frame ends in a STOP codon 9 positions downstream. PubMed: Goldstein 2007 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Goldstein 2007 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1a c.46del r.(?) p.(Leu16TrpfsTer10) Unknown - pathogenic g.21974781del g.21974782del - - CDKN2A_000007 The new reading frame ends in a STOP codon 9 positions downstream. PubMed: Smith-Sorensen 1996 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Smith-Sorensen 1996 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.47T>C r.(?) p.Leu16Pro Unknown - VUS g.21974780A>G g.21974781A>G c.47T>G - CDKN2A_000008 - PubMed: Soufir 1998 - - Germline - - - 0 - DNA PCR, SSCA, SEQ - - melanoma - PubMed: Soufir 1998 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.47T>C r.(?) p.Leu16Pro Unknown - VUS g.21974780A>G g.21974781A>G c.47T>G - CDKN2A_000008 - PubMed: Ruas 1998 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Ruas 1998 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.47T>C r.(?) p.Leu16Pro Unknown - VUS g.21974780A>G g.21974781A>G c.47T>G - CDKN2A_000008 - PubMed: Bishop 2002 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Bishop 2002 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.47T>C r.(?) p.Leu16Pro Unknown - VUS g.21974780A>G g.21974781A>G c.47T>G - CDKN2A_000008 - PubMed: Whiteman 1997 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Whiteman 1997 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.47T>C r.(?) p.Leu16Pro Unknown - VUS g.21974780A>G g.21974781A>G c.47T>G - CDKN2A_000008 - PubMed: Chaudru 2004 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Chaudru 2004 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.47T>C r.(?) p.Leu16Pro Unknown - VUS g.21974780A>G g.21974781A>G c.47T>G - CDKN2A_000008 - PubMed: Goldstein 2007 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Goldstein 2007 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.47T>C r.(?) p.Leu16Pro Unknown - VUS g.21974780A>G g.21974781A>G c.47T>G - CDKN2A_000008 - PubMed: Monnerat 2007 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Monnerat 2007 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.47T>G r.(?) p.Leu16Arg Unknown - VUS g.21974780A>C g.21974781A>C L16P - CDKN2A_000009 - PubMed: Bishop 2002 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Bishop 2002 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.47T>G r.(?) p.Leu16Arg Unknown - VUS g.21974780A>C g.21974781A>C L16P - CDKN2A_000009 - PubMed: Goldstein 2007 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Goldstein 2007 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.47T>G r.(?) p.Leu16Arg Unknown - VUS g.21974780A>C g.21974781A>C L16P - CDKN2A_000009 - PubMed: Begg 2005 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Begg 2005 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.47T>G r.(?) p.Leu16Arg Unknown - VUS g.21974780A>C g.21974781A>C L16P - CDKN2A_000009 - PubMed: Orlow 2007 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Orlow 2007 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.47T>G r.(?) p.Leu16Arg Unknown - VUS g.21974780A>C g.21974781A>C L16P - CDKN2A_000009 - PubMed: Monnerat 2007 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Monnerat 2007 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.47T>G r.(?) p.(Leu16Arg) Unknown - pathogenic g.21974780A>C g.21974781A>C CDKN2A(NM_000077.4):c.47T>G (p.L16R) - CDKN2A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.47T>G r.(?) p.(Leu16Arg) Unknown - pathogenic g.21974780A>C - CDKN2A(NM_000077.4):c.47T>G (p.L16R) - CDKN2A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1a c.52_57dup r.(?) p.Thr18_Ala19dup Unknown - pathogenic g.21974774_21974779dup g.21974775_21974780dup - - CDKN2A_000010 This duplication causes the duplication of 2 residue(s): TA. PubMed: Soufir 1998 - - Germline - - - 0 - DNA PCR, SSCA, SEQ - - melanoma - PubMed: Soufir 1998 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1a c.52_57dup r.(?) p.Thr18_Ala19dup Unknown - pathogenic g.21974774_21974779dup g.21974775_21974780dup - - CDKN2A_000010 This duplication causes the duplication of 2 residue(s): TA. PubMed: Ruas 1998 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Ruas 1998 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1a c.52_57dup r.(?) p.Thr18_Ala19dup Unknown - pathogenic g.21974774_21974779dup g.21974775_21974780dup - - CDKN2A_000010 This duplication causes the duplication of 2 residue(s): TA. PubMed: Auroy 2001 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Auroy 2001 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1a c.52_57dup r.(?) p.Thr18_Ala19dup Unknown - pathogenic g.21974774_21974779dup g.21974775_21974780dup - - CDKN2A_000010 This duplication causes the duplication of 2 residue(s): TA. PubMed: Goldstein 2007 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Goldstein 2007 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1a c.52_57dup r.(?) p.Thr18_Ala19dup Unknown - pathogenic g.21974774_21974779dup g.21974775_21974780dup - - CDKN2A_000010 This duplication causes the duplication of 2 residue(s): TA. PubMed: Chaudru 2004 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Chaudru 2004 - - - - - - 0 - - 1 Johan den Dunnen
?/. 1 c.52_57dup r.(?) p.(Thr18_Ala19dup) Unknown - VUS g.21974774_21974779dup g.21974775_21974780dup - - CDKN2A_000010 - PubMed: Schwartz 2019 - - Germline - - - 0 - DNA SEQ - - cancer, pancreatic - PubMed: Schwartz 2019 - - - - - - 0 - - 1 Mathias Schwartz
?/. - c.58G>T r.(?) p.(Ala20Ser) Unknown - VUS g.21974769C>A g.21974770C>A - - CDKN2A_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1a c.67G>A r.(?) p.Gly23Ser Unknown - VUS g.21974760C>T g.21974761C>T - - CDKN2A_000013 - PubMed: Orlow 2007 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Orlow 2007 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.67G>C r.(?) p.Gly23Arg Unknown - VUS g.21974760C>G g.21974761C>G - - CDKN2A_000011 - PubMed: Begg 2005 - - Germline - - - 0 - DNA PCR, SEQ - - melanoma - PubMed: Begg 2005 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.67G>C r.(?) p.Gly23Arg Unknown - VUS g.21974760C>G g.21974761C>G - - CDKN2A_000011 - PubMed: Goldstein 2007 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Goldstein 2007 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.67G>C r.(?) p.Gly23Arg Unknown - VUS g.21974760C>G g.21974761C>G - - CDKN2A_000011 - PubMed: Orlow 2007 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Orlow 2007 - - - - - - 0 - - 1 Johan den Dunnen
+?/. - c.67G>C r.(?) p.(Gly23Arg) Unknown - likely pathogenic g.21974760C>G g.21974761C>G CDKN2A(NM_001195132.2):c.67G>C (p.G23R) - CDKN2A_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/? 1a c.67G>T r.(?) p.(Gly23Cys) Unknown - VUS g.21974760C>A g.21974761C>A G>T (G23C) - CDKN2A_000012 - PubMed: Blackwood 2002 - - Germline - - - 0 - DNA SEQ - - melanoma 12001124-M064 PubMed: Blackwood 2002 - - - - Scottish, English, German - 0 - - 1 Johan den Dunnen
?/? 1a c.68G>A r.(?) p.Gly23Asp Unknown - VUS g.21974759C>T g.21974760C>T - - CDKN2A_000014 - PubMed: Soufir 1998 - - Germline - - - 0 - DNA PCR, SSCA, SEQ - - melanoma - PubMed: Soufir 1998 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.68G>A r.(?) p.Gly23Asp Unknown - VUS g.21974759C>T g.21974760C>T - - CDKN2A_000014 - PubMed: Ruas 1998 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Ruas 1998 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.68G>A r.(?) p.Gly23Asp Unknown - VUS g.21974759C>T g.21974760C>T - - CDKN2A_000014 - PubMed: Fargnoli 1998 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Fargnoli 1998 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.68G>A r.(?) p.Gly23Asp Unknown - VUS g.21974759C>T g.21974760C>T - - CDKN2A_000014 - PubMed: Bishop 2002 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Bishop 2002 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.68G>A r.(?) p.Gly23Asp Unknown - VUS g.21974759C>T g.21974760C>T - - CDKN2A_000014 - PubMed: Chaudru 2004 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Chaudru 2004 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.68G>A r.(?) p.Gly23Asp Unknown - VUS g.21974759C>T g.21974760C>T - - CDKN2A_000014 - PubMed: Begg 2005 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Begg 2005 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.68G>A r.(?) p.Gly23Asp Unknown - VUS g.21974759C>T g.21974760C>T - - CDKN2A_000014 - PubMed: Goldstein 2007 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Goldstein 2007 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.68G>A r.(?) p.Gly23Asp Unknown - VUS g.21974759C>T g.21974760C>T - - CDKN2A_000014 - PubMed: Hocevar 2006 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Hocevar 2006 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.71G>A r.(?) p.Arg24Gln Unknown - VUS g.21974756C>T g.21974757C>T - - CDKN2A_000016 - - - - Germline - - - 0 - DNA SEQ - - ? - - - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.71G>C r.(?) p.Arg24Pro Unknown - VUS g.21974756C>G g.21974757C>G - - CDKN2A_000015 - PubMed: Harland 1997 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Harland 1997 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.71G>C r.(?) p.Arg24Pro Unknown - VUS g.21974756C>G g.21974757C>G - - CDKN2A_000015 - PubMed: Soufir 1998 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Soufir 1998 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.71G>C r.(?) p.Arg24Pro Unknown - VUS g.21974756C>G g.21974757C>G - - CDKN2A_000015 - PubMed: Becker 2001 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Becker 2001 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.71G>C r.(?) p.Arg24Pro Unknown - VUS g.21974756C>G g.21974757C>G - - CDKN2A_000015 - PubMed: Bishop 2002 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Bishop 2002 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.71G>C r.(?) p.Arg24Pro Unknown - VUS g.21974756C>G g.21974757C>G - - CDKN2A_000015 - PubMed: Holland 1995 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Holland 1995 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.71G>C r.(?) p.Arg24Pro Unknown - VUS g.21974756C>G g.21974757C>G - - CDKN2A_000015 - PubMed: Ruas 1998 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Ruas 1998 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.71G>C r.(?) p.Arg24Pro Unknown - VUS g.21974756C>G g.21974757C>G - - CDKN2A_000015 - PubMed: Holland 1999 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Holland 1999 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.71G>C r.(?) p.Arg24Pro Unknown - VUS g.21974756C>G g.21974757C>G - - CDKN2A_000015 - PubMed: Florell 2004 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Florell 2004 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.71G>C r.(?) p.Arg24Pro Unknown - VUS g.21974756C>G g.21974757C>G - - CDKN2A_000015 - PubMed: Begg 2005 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Begg 2005 - - - - - - 0 - - 1 Johan den Dunnen
+/. - c.71G>C r.(?) p.(Arg24Pro) Unknown - pathogenic g.21974756C>G g.21974757C>G - - CDKN2A_000015 - PubMed: Fostira 2020 - - Germline - - - 0 - DNA SEQ - gene panel cancer, breast - PubMed: Fostira 2020 - - - Greece - - 0 - - 1 Florentia Fostira
+/. 1a c.79G>T r.(?) p.Glu27X Unknown - pathogenic g.21974748C>A g.21974749C>A - - CDKN2A_000018 - PubMed: Ghiorzo 2006 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Ghiorzo 2006 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1a c.79G>T r.(?) p.Glu27X Unknown - pathogenic g.21974748C>A g.21974749C>A - - CDKN2A_000018 - PubMed: Helsing 2008 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Helsing 2008 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1a c.83dup r.(?) p.(Arg29AlafsTer15) Unknown - pathogenic g.21974744dup g.21974745dup - - CDKN2A_000020 The new reading frame ends in a STOP codon 14 positions downstream. PubMed: Hashemi 2000 - - Germline - - - 0 - DNA PCR, SSCA, SEQ - - melanoma - PubMed: Hashemi 2000 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.83T>G r.(?) p.(Val28Gly) Unknown - VUS g.21974744A>C g.21974745A>C T122G (V28G) - CDKN2A_000019 - PubMed: Blackwood 2002 - - Germline - - - 0 - DNA PCR, SEQ - - melanoma 12001124-M054 PubMed: Blackwood 2002 - - - Poland - - 0 - - 1 Johan den Dunnen
+/. 1a c.88del r.(?) p.Ala30fs Unknown - pathogenic g.21974741del g.21974742del - - CDKN2A_000021 The new reading frame ends in a STOP codon 22 positions downstream. PubMed: Bishop 2002 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Bishop 2002 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1a c.88del r.(?) p.Ala30fs Unknown - pathogenic g.21974741del g.21974742del - - CDKN2A_000021 The new reading frame ends in a STOP codon 22 positions downstream. PubMed: Harland 1997 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Harland 1997 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1a c.88del r.(?) p.Ala30fs Unknown - pathogenic g.21974741del g.21974742del - - CDKN2A_000021 The new reading frame ends in a STOP codon 22 positions downstream. PubMed: Begg 2005 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Begg 2005 - - - - - - 0 - - 1 Johan den Dunnen
+/. 1a c.88del r.(?) p.Ala30fs Unknown - pathogenic g.21974741del g.21974742del - - CDKN2A_000021 The new reading frame ends in a STOP codon 22 positions downstream. PubMed: Orlow 2007 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Orlow 2007 - - - - - - 0 - - 1 Johan den Dunnen
-?/. - c.93G>A r.(?) p.(Leu31=) Unknown - likely benign g.21974734C>T - CDKN2A(NM_000077.4):c.93G>A (p.L31=) - CDKN2A_000194 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1a c.95T>C r.(?) p.Leu32Pro Unknown - VUS g.21974732A>G g.21974733A>G - - CDKN2A_000022 - PubMed: Walker 1995 - - Germline - - - 0 - DNA DHPLC - - melanoma - PubMed: Walker 1995 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.95T>C r.(?) p.Leu32Pro Unknown - VUS g.21974732A>G g.21974733A>G - - CDKN2A_000022 - PubMed: Ruas 1998 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Ruas 1998 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.95T>C r.(?) p.Leu32Pro Unknown - VUS g.21974732A>G g.21974733A>G - - CDKN2A_000022 - PubMed: Bishop 2002 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Bishop 2002 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.95T>C r.(?) p.Leu32Pro Unknown - VUS g.21974732A>G g.21974733A>G - - CDKN2A_000022 - PubMed: Orlow 2001 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Orlow 2001 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.95T>C r.(?) p.Leu32Pro Unknown - VUS g.21974732A>G g.21974733A>G - - CDKN2A_000022 - PubMed: Begg 2005 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Begg 2005 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.95T>C r.(?) p.Leu32Pro Unknown - VUS g.21974732A>G g.21974733A>G - - CDKN2A_000022 - PubMed: Goldstein 2007 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Goldstein 2007 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.95T>C r.(?) p.Leu32Pro Unknown - VUS g.21974732A>G g.21974733A>G - - CDKN2A_000022 - PubMed: Orlow 2007 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Orlow 2007 - - - - - - 0 - - 1 Johan den Dunnen
?/? 1a c.95T>C r.(?) p.Leu32Pro Unknown - VUS g.21974732A>G g.21974733A>G - - CDKN2A_000022 - PubMed: Smith-Sorensen 1996 - - Germline - - - 0 - DNA SEQ - - melanoma - PubMed: Smith-Sorensen 1996 - - - - - - 0 - - 1 Johan den Dunnen
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