All variants in the CDKN1C gene

Information The variants shown are described using the NM_000076.2 transcript reference sequence.

157 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     

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     

Owner     
?/. - c.? r.(?) p.(Leu6Pro) - - VUS g.? - - - DRD4_000002 - PubMed: Heidet 2017 - - Germline - - - 0 - Johan den Dunnen
-?/. - c.-2863C>A r.(?) p.(=) - - likely benign g.2909582G>T g.2888352G>T SLC22A18AS(NM_007105.2):c.590C>A (p.(Ala197Glu)) - CDKN1C_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-2804G>A r.(?) p.(=) - - VUS g.2909523C>T g.2888293C>T SLC22A18AS(NM_007105.2):c.649G>A (p.(Gly217Ser)) - SLC22A18AS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-2795dup r.(?) p.(=) - - VUS g.2909518dup g.2888288dup SLC22A18AS(NM_007105.2):c.658dupC (p.(Arg220ProfsTer11)) - SLC22A18AS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-2794del r.(?) p.(=) - - VUS g.2909513del g.2888283del SLC22A18AS(NM_007105.2):c.659del (p.(Arg220ProfsTer13)) - SLC22A18AS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-2794G>A r.(?) p.(=) - - VUS g.2909513C>T g.2888283C>T SLC22A18AS(NM_007105.2):c.659G>A (p.(Arg220His)) - SLC22A18AS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-2794G>C r.(?) p.(=) - - likely benign g.2909513C>G g.2888283C>G SLC22A18AS(NM_007105.2):c.659G>C (p.(Arg220Pro)) - SLC22A18AS_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-2788_-2787dup r.(?) p.(=) - - likely benign g.2909511_2909512dup g.2888281_2888282dup SLC22A18AS(NM_007105.2):c.666_667insCC (p.(Asn223ProfsTer11)) - CDKN1C_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-2787dup r.(?) p.(=) - - likely benign g.2909512dup g.2888282dup SLC22A18AS(NM_007105.2):c.666dup (p.(Asn223Glnfs*8)) - SLC22A18AS_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
?/. - c.-2787_-2786insCACCCCCCC r.(?) p.(=) - - VUS g.2909512_2909513insTGGGGGGGG g.2888282_2888283insTGGGGGGGG SLC22A18AS(NM_007105.2):c.666_667insCACCCCCCC (p.(Pro222_Asn223insHisProPro)) - CDKN1C_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-2786A>C r.(?) p.(=) - - likely benign g.2909505T>G g.2888275T>G SLC22A18AS(NM_007105.2):c.667A>C (p.(Asn223His)) - SLC22A18AS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.-2785A>C r.(?) p.(=) - - likely benign g.2909504T>G g.2888274T>G SLC22A18AS(NM_007105.2):c.668A>C (p.(Asn223Thr)) - CDKN1C_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-2781dup r.(?) p.(=) - - likely benign g.2909503dup g.2888273dup SLC22A18AS(NM_007105.2):c.672dupC (p.(Ala225ArgfsTer6)) - CDKN1C_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-2776T>C r.(?) p.(=) - - VUS g.2909495A>G g.2888265A>G SLC22A18AS(NM_007105.2):c.677T>C (p.(Leu226Pro)) - CDKN1C_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.-2731C>T r.(?) p.(=) - - likely benign g.2909450G>A g.2888220G>A SLC22A18AS(NM_007105.2):c.722C>T (p.(Thr241Ile)) - CDKN1C_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.-173C>T r.(?) p.(?) - - VUS g.2906892G>A - - - chr11_007844 - - - - Unknown - - - 0 - MobiDetails
?/. - c.-139C>T r.(?) p.(=) - - VUS g.2906858G>A g.2885628G>A CDKN1C(NM_000076.2):c.-139C>T (p.(=)) - CDKN1C_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-/. - c.-85G>A r.(?) p.(=) - - benign g.2906804C>T g.2885574C>T CDKN1C(NM_000076.2):c.-85G>A - CDKN1C_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.-84G>A r.(?) p.(=) - - likely benign g.2906803C>T g.2885573C>T - - CDKN1C_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. _1_3_ c.?_?ins-276_*703 r.? p.? - - pathogenic g.[NC_000004.11:pter_(3416499_6000000)]delinspter_(2914486_10700000) - - - CDKN1C_000110 unbalanced translocation, extra copy 11p15 for EUCID-SRS consortium - - DUPLICATE record - - - 0 - Zeynep Tümer
+/. _1_3_ c.?_?ins-276_*703 r.? p.? - - pathogenic g.[NC_000004.11:(183200001_185163006)_(190963006_qter)]delins(pter_180000)_(4143424_10700000)inv - - - CDKN1C_000110 unbalanced translocation, extra copy of chr11 sequences translocated to chr4, ICR1 and ICR2 affected for EUCID-SRS consortium - - De novo - - - 0 - Zeynep Tümer
+/. _1_3_ c.ins(?_-1)_(*1_?) r.? p.? - - pathogenic g.[NC_000009.11:pter_(15674745_16600000)]delins[pter_(2192146_2800000);NC_000004.11:(131100001_135285075)_(136913555_139500000)] - - arr[hg19] 11p15.5(205,983-2,192,146)x3 CDKN1C_000056 unbalanced translocation, extra copy 1.95 Mb 11p15.5 for EUCID-SRS consortium - - DUPLICATE record - - - 0 - Zeynep Tümer
+/? 1 c.11C>T r.(?) p.(A4V) I - pathogenic g.2906709G>A g.2885479G>A - - CDKN1C_000008 - PubMed: Romanelli 2010 - - Germline yes - - - - Eamonn Maher
?/. - c.20G>A r.(?) p.(Arg7His) - - VUS g.2906700C>T g.2885470C>T CDKN1C(NM_000076.2):c.20G>A (p.(Arg7His)) - CDKN1C_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.33G>T r.(?) p.(Thr11=) - - likely benign g.2906687C>A - CDKN1C(NM_000076.2):c.33G>T (p.T11=) - CDKN1C_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.84C>T r.(?) p.(Ser28=) - - likely benign g.2906636G>A - CDKN1C(NM_000076.2):c.84C>T (p.S28=) - CDKN1C_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 c.98T>A r.(?) p.(L33H) I - pathogenic g.2906622A>T g.2885392A>T - - CDKN1C_000009 - PubMed: Romanelli 2010 - - Germline yes - - - - Eamonn Maher
+/? 1 c.98T>G r.(?) p.(Leu33Arg) I - pathogenic g.2906622A>C g.2885392A>C - - CDKN1C_000010 - PubMed: Engel 2000 - - Germline yes - - 0 - Eamonn Maher
-?/. - c.99C>T r.(?) p.(Leu33=) - - likely benign g.2906621G>A - CDKN1C(NM_000076.2):c.99C>T (p.L33=) - CDKN1C_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 c.105del r.(?) p.(Pro36ArgfsTer7) I - pathogenic g.2906617del g.2885387del - - CDKN1C_000011 - PubMed: Lee 1997 - - Germline yes - - - - Eamonn Maher
+?/. 1 c.105del r.(?) p.(Pro36Argfs*7) - - likely pathogenic g.2906617del g.2885387del - - CDKN1C_000011 - Mussa A, Russo S* submitted ESHG - - Germline - - - 0 - Silvia Russo
?/. - c.106C>A r.(?) p.(Pro36Thr) - - VUS g.2906614G>T - CDKN1C(NM_000076.2):c.106C>A (p.P36T) - CDKN1C_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.117C>T r.(?) p.(His39=) - - likely benign g.2906603G>A g.2885373G>A CDKN1C(NM_000076.2):c.117C>T (p.H39=) - CDKN1C_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 c.125T>C r.(?) p.(L42P) I - pathogenic g.2906595A>G g.2885365A>G - - CDKN1C_000012 - PubMed: Li 2001 - - Germline yes - - - - Eamonn Maher
+/? 1 c.139C>T r.(?) p.(Q47*) I - pathogenic g.2906581G>A g.2885351G>A - - CDKN1C_000013 - PubMed: Hatada 1996 - - Germline yes - - - - Eamonn Maher
+/? 1 c.149T>C r.(?) p.(L50P) I - pathogenic g.2906571A>G g.2885341A>G - - CDKN1C_000014 - PubMed: Li 2001 - - Germline yes - - - - Eamonn Maher
+/? 1 c.181T>C r.(?) p.(W61R) I - pathogenic g.2906539A>G g.2885309A>G - - CDKN1C_000015 variant 0/200 in controls Journal: Yatsuki 2013 - - Germline yes - - - - Eamonn Maher
+/? 1 c.185_193del r.(?) p.(Asp62_Phe65delinsVal) I - pathogenic g.2906527_2906535del g.2885297_2885305del 185_193delATTACGACT - CDKN1C_000016 variant 0/210 in controls PubMed: O’Keefe 1997 - - Germline yes - - - - Eamonn Maher
+/? 1 c.187T>A r.(?) p.(Y63N) I - pathogenic g.2906533A>T g.2885303A>T - - CDKN1C_000017 - PubMed: Welsh 2011 - - De novo ? - - - - Eamonn Maher
+?/. - c.207_208delinsAA r.(?) p.(Met69_Pro70delinsIleThr) - - likely pathogenic g.2906512_2906513delinsTT - - - chr11_007846 - - - - Unknown - - - 0 - MobiDetails
+/? 1 c.209C>T r.(?) p.(P70L) I - pathogenic g.2906511G>A g.2885281G>A - - CDKN1C_000018 - PubMed: Lam 1999 - - De novo ? - - - - Eamonn Maher
?/. 1 c.211_232del r.(?) p.(Leu71Serfs*194) - - VUS g.2906488_2906509del g.2885258_2885279del hg 38 g.2885279_2885258del21 - CDKN1C_000052 - - - - Germline - - - 0 - Silvia Russo
+/? 1 c.232C>T r.(?) p.(Q78*) I - pathogenic g.2906488G>A g.2885258G>A - - CDKN1C_000019 - PubMed: Romanelli 2009 - - De novo ? - - 0 - Eamonn Maher
+?/. 1 c.235T>C r.(?) p.(Trp79Arg) - - likely pathogenic g.2906485A>G g.2885255A>G - - CDKN1C_000050 - - - - Germline - - - 0 - Silvia Russo
-?/. - c.246G>A r.(?) p.(Val82=) - - likely benign g.2906474C>T g.2885244C>T CDKN1C(NM_000076.2):c.246G>A (p.V82=) - CDKN1C_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.265G>A r.(?) p.(Ala89Thr) - - VUS g.2906455C>T g.2885225C>T CDKN1C(NM_000076.2):c.265G>A (p.A89T) - CDKN1C_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 c.271T>C r.(?) p.(Y91H) I - pathogenic g.2906449A>G g.2885219A>G - - CDKN1C_000020 variant 0/200 in controls Journal: Yatsuki 2013 - - Germline yes - - - - Eamonn Maher
+/? 1 c.310_311delinsG r.(?) p.(Leu104Glyfs*168) I - pathogenic g.2906409_2906410delinsC g.2885179_2885180delinsC 310_311delCTinsG - CDKN1C_000021 - PubMed: Hatada 1997 - - Germline yes - - 0 - Eamonn Maher
-?/. - c.344T>G r.(?) p.(Val115Gly) - - likely benign g.2906376A>C g.2885146A>C - - CDKN1C_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.355C>T r.(?) p.(Leu119Phe) - - likely benign g.2906365G>A g.2885135G>A CDKN1C(NM_000076.2):c.355C>T (p.(Leu119Phe)) - CDKN1C_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.383G>T r.(?) p.(Gly128Val) - - likely benign g.2906337C>A g.2885107C>A CDKN1C(NM_000076.2):c.383G>T (p.(Gly128Val)) - CDKN1C_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.391G>A r.(?) p.(Glu131Lys) - - VUS g.2906329C>T g.2885099C>T CDKN1C(NM_000076.2):c.391G>A (p.(Glu131Lys)) - CDKN1C_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
+/? 1 c.391_392insT r.(?) p.(E131fs*8) I/II - pathogenic g.2906328_2906329insA g.2885098_2885099insA 392insT - CDKN1C_000022 - PubMed: Engel 2000 - - De novo ? - - 0 - Eamonn Maher
?/. - c.397C>T r.(?) p.(Pro133Ser) - - VUS g.2906323G>A g.2885093G>A CDKN1C(NM_000076.2):c.397C>T (p.P133S) - CDKN1C_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.403C>T r.(?) p.(Gln135Ter) - - likely pathogenic g.2906317G>A - - - CDKN1C_000133 - - - - CLASSIFICATION record - - - 0 - MobiDetails
-?/. - c.409C>G r.(?) p.(Pro137Ala) - - likely benign g.2906311G>C g.2885081G>C CDKN1C(NM_000076.2):c.409C>G (p.P137A) - CDKN1C_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.428C>A r.(?) p.(Ala143Asp) - - VUS g.2906292G>T g.2885062G>T CDKN1C(NM_000076.2):c.428C>A (p.A143D) - CDKN1C_000098 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.456G>A r.(?) p.(Pro152=) - - likely benign g.2906264C>T g.2885034C>T CDKN1C(NM_000076.2):c.456G>A (p.P152=) - CDKN1C_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/? 1 c.460del r.(?) p.(Leu154TrpfsTer118) I/II - pathogenic g.2906261del g.2885031del - - CDKN1C_000023 variant 0/200 in controls Journal: Yatsuki 2013 - - Germline yes - - - - Eamonn Maher
+/? 1 c.461del r.(?) p.(Leu154ArgfsTer118) I/II - pathogenic g.2906259del g.2885029del - - CDKN1C_000024 - PubMed: Lee 1997 - - Unknown ? - - - - Eamonn Maher
?/. - c.471_482del r.(?) p.(Ala161_Pro164del) - - VUS g.2906240_2906251del g.2885010_2885021del CDKN1C(NM_000076.2):c.471_482delCCCGGCCCCGGC (p.A161_P164del) - CDKN1C_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.491C>T r.(?) p.(Pro164Leu) - - VUS g.2906229G>A g.2884999G>A CDKN1C(NM_000076.2):c.491C>T (p.P164L) - CDKN1C_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/? 1 c.499_514del r.(?) p.(Ala167Argfs*100) II - pathogenic g.2906206_2906221del g.2884976_2884991del 499_514delGCTCCGGTCGCGGCTC - CDKN1C_000025 - PubMed: Lam 1999 - - Germline yes - - 0 - Eamonn Maher
-?/. - c.508G>A r.(?) p.(Ala170Thr) - - likely benign g.2906212C>T g.2884982C>T CDKN1C(NM_000076.2):c.508G>A (p.A170T) - CDKN1C_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/? 1 c.512_523del r.512_523del p.Ala171_Ala174del - - likely benign g.2906224_2906235del g.2884994_2885005del 171-174APVA del - CDKN1C_000044 - PubMed: Lew 2004 - - Germline yes - - 0 - Johan den Dunnen
-?/? 1 c.512_523del r.(?) p.(Ala171_Ala174del) - - likely benign g.2906224_2906235del g.2884994_2885005del - - CDKN1C_000044 16/210 cancer samples, 7/194 control cases PubMed: Tokino 1996 - - Not applicable - 23/404 chromosomes - 0 - Johan den Dunnen
?/. - c.512_523del r.(?) p.(Ala171_Ala174del) - - VUS g.2906224_2906235del g.2884994_2885005del - - CDKN1C_000044 - PubMed: Casey 2014 - - Germline yes - - 0 - Johan den Dunnen
-/. - c.512_523del r.(?) p.(Ala171_Ala174del) - - benign g.2906224_2906235del g.2884994_2885005del - - CDKN1C_000044 - - - - Germline - - - 0 - Andreas Laner
-/. - c.512_523del r.(?) p.(Ala171_Ala174del) - - benign g.2906224_2906235del g.2884994_2885005del CDKN1C(NM_000076.2):c.512_523del (p.(Ala171_Ala174del)), CDKN1C(NM_000076.2):c.512_523delCTCCGGTCGCGG (p.A171_A174del) - CDKN1C_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.512_523del r.(?) p.(Ala171_Ala174del) - - likely benign g.2906224_2906235del g.2884994_2885005del CDKN1C(NM_000076.2):c.512_523del (p.(Ala171_Ala174del)), CDKN1C(NM_000076.2):c.512_523delCTCCGGTCGCGG (p.A171_A174del) - CDKN1C_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 c.512_523del r.(?) p.(Ala171_Ala174del) - - benign g.2906224_2906235del g.2884994_2885005del - - CDKN1C_000044 - - - - Germline - - - 0 - Maximiliano Zeballos
-?/. - c.525C>G r.(?) p.(Val175=) - - likely benign g.2906195G>C - CDKN1C(NM_000076.2):c.525C>G (p.V175=) - CDKN1C_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.528G>C r.(?) p.(Ala176=) - - benign g.2906192C>G g.2884962C>G CDKN1C(NM_000076.2):c.528G>C (p.A176=, p.(Ala176=)) - CDKN1C_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.528G>C r.(?) p.(Ala176=) - - likely benign g.2906192C>G g.2884962C>G CDKN1C(NM_000076.2):c.528G>C (p.A176=, p.(Ala176=)) - CDKN1C_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. - c.528G>C r.(?) p.(Ala176=) - - likely benign g.2906192C>G - CDKN1C(NM_000076.2):c.528G>C (p.A176=, p.(Ala176=)) - CDKN1C_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.528G>C r.(?) p.(Ala176=) - - likely benign g.2906192C>G - CDKN1C(NM_000076.2):c.528G>C (p.A176=, p.(Ala176=)) - CDKN1C_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/? 1 c.543_554del r.(?) p.(Ala191_Pro194del) - - VUS g.2906175_2906186del g.2884945_2884956del APAP 181-184 del - CDKN1C_000046 - PubMed: Tokino 1996 - - Not applicable - 2/22 chromosomes - 0 - Johan den Dunnen
?/. - c.543_554del r.(?) p.(Ala191_Pro194del) - - VUS g.2906175_2906186del g.2884945_2884956del CDKN1C(NM_000076.2):c.543_554del (p.(Ala191_Pro194del)), CDKN1C(NM_000076.2):c.543_554delCCCGGCCCCGGC (p.A191_P194del) - CDKN1C_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.543_554del r.(?) p.(Ala191_Pro194del) - - likely benign g.2906175_2906186del g.2884945_2884956del CDKN1C(NM_000076.2):c.543_554del (p.(Ala191_Pro194del)), CDKN1C(NM_000076.2):c.543_554delCCCGGCCCCGGC (p.A191_P194del) - CDKN1C_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.543_554del r.(?) p.(Ala191_Pro194del) - - likely benign g.2906175_2906186del - CDKN1C(NM_000076.2):c.543_554del (p.(Ala191_Pro194del)), CDKN1C(NM_000076.2):c.543_554delCCCGGCCCCGGC (p.A191_P194del) - CDKN1C_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. - c.548_649del r.(?) p.(Ala183_Pro216del) - - likely benign g.2906085_2906186del g.2884855_2884956del CDKN1C(NM_000076.2):c.548_649del (p.(Ala183_Pro216del)) - CDKN1C_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.555T>C r.(?) p.(Ala185=) - - likely benign g.2906165A>G g.2884935A>G CDKN1C(NM_000076.2):c.537_555delCCCGGCCCCGGCCCCGGCTinsCCCGGCCCCGGCCCCGGCC (p.A179_A185=), CDKN1C(NM_000076.2):c.555T>C (p.A185=) - CDKN1C_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/. - c.561_572dup r.(?) p.(Ala191_Pro194dup) - - VUS g.2906159_2906170dup g.2884929_2884940dup CDKN1C(NM_000076.2):c.572_573insTCCGGCTCCGGC (p.(Ala191_Pro194dup)) - CDKN1C_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.567_572dup r.(?) p.(Ala193_Pro194dup) - - VUS g.2906165_2906170dup - CDKN1C(NM_000076.2):c.572_573insTCCGGC (p.(Ala193_Pro194dup)) - CDKN1C_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/? 1 c.579del r.(?) p.(Pro194GlnfsTer78) II - pathogenic g.2906141del g.2884911del - - CDKN1C_000026 variant 0/100 in controls PubMed: Kantaputra 2012 - - Germline yes - - - - Eamonn Maher
-?/. - c.585C>T r.(?) p.(Val195=) - - likely benign g.2906135G>A - CDKN1C(NM_000076.2):c.585C>T (p.V195=) - CDKN1C_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.600A>G r.(?) p.(Pro200=) - - benign g.2906120T>C g.2884890T>C CDKN1C(NM_000076.2):c.600A>G (p.P200=) - CDKN1C_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
?/? 1 c.600_611del r.(?) p.(Ala213_Pro216del) - - VUS g.2906120_2906131del g.2884890_2884901del PAPA 200-203 del - CDKN1C_000047 - PubMed: Tokino 1996 - - Not applicable - 1/22 chromosomes - 0 - Johan den Dunnen
-?/. - c.610C>G r.(?) p.(Pro204Ala) - - likely benign g.2906110G>C g.2884880G>C CDKN1C(NM_000076.2):c.610C>G (p.(Pro204Ala)) - CDKN1C_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/? 1 c.618_629del r.(?) p.(Ala213_Pro216del) - - VUS g.2906108_2906119del g.2884878_2884889del PAPA 206-209 del - CDKN1C_000048 - PubMed: Tokino 1996 - - Not applicable - 1/22 chromosomes - 0 - Johan den Dunnen
-/. - c.618_629del r.(?) p.(Ala213_Pro216del) - - benign g.2906108_2906119del g.2884878_2884889del CDKN1C(NM_000076.2):c.618_629del (p.(Ala213_Pro216del)), CDKN1C(NM_000076.2):c.618_629delGGCCCCGGCCCC (p.A213_P216del) - CDKN1C_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.618_629del r.(?) p.(Ala213_Pro216del) - - benign g.2906108_2906119del g.2884878_2884889del CDKN1C(NM_000076.2):c.618_629del (p.(Ala213_Pro216del)), CDKN1C(NM_000076.2):c.618_629delGGCCCCGGCCCC (p.A213_P216del) - CDKN1C_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.618_629del r.(?) p.(Ala213_Pro216del) - - likely benign g.2906108_2906119del g.2884878_2884889del CDKN1C(NM_000076.2):c.618_629del (p.(Ala213_Pro216del)), CDKN1C(NM_000076.2):c.618_629delGGCCCCGGCCCC (p.A213_P216del) - CDKN1C_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.624G>C r.(?) p.(Pro208=) - - likely benign g.2906096C>G g.2884866C>G CDKN1C(NM_000076.2):c.624G>C (p.P208=) - CDKN1C_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-/. - c.624_629del r.(?) p.(Ala215_Pro216del) - - benign g.2906114_2906119del g.2884884_2884889del CDKN1C(NM_000076.2):c.624_629delGGCCCC (p.A215_P216del) - CDKN1C_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-?/. - c.632_633insACCGGC r.(?) p.(Ala215_Pro216dup) - - likely benign g.2906089_2906090insCGGTGC g.2884859_2884860insCGGTGC CDKN1C(NM_000076.2):c.632_633insACCGGC (p.(Ala215_Pro216dup)) - CDKN1C_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 c.638_649del r.(?) p.(Ala213_Pro216del) - - likely pathogenic g.2906078_2906089del g.2884848_2884859del - - CDKN1C_000051 - - - - Germline - - - 0 - Silvia Russo
-/. - c.669C>T r.(?) p.(Ser223=) - - benign g.2906051G>A - - - CDKN1C_000130 - - - rs540923047 CLASSIFICATION record - - - 0 - MobiDetails
+?/. 1 c.673G>T r.(?) p.(Glu225*) - - likely pathogenic g.2906047C>A g.2884817C>A unpublished 2884817G>T - CDKN1C_000049 - - - - Germline - - - 0 - Silvia Russo
+/. - c.676C>T r.(?) p.(Gln226Ter) - - pathogenic g.2906044G>A - - - chr11_007845 - - - rs483352987 Unknown - - - 0 - MobiDetails
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