All variants in the PCK2 gene

Information The variants shown are described using the NM_001018073.1 transcript reference sequence.

36 entries on 1 page. Showing entries 1 - 36.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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.-17030C>T r.(?) p.(=) - VUS g.24546585C>T g.24077376C>T - - DCAF11_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-13167G>C r.(?) p.(=) - benign g.24550448G>C g.24081239G>C NRL(NM_006177.4):c.711C>G (p.L237=) - NRL_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.-13167G>C r.(?) p.(=) - benign g.24550448G>C g.24081239G>C NRL(NM_006177.4):c.711C>G (p.L237=) - NRL_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-13150_-13140del r.(?) p.(=) - VUS g.24550465_24550475del - NRL(NM_006177.4):c.684_694delGTCCGGGGACC (p.S229Lfs*15) - DCAF11_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. - c.-13142del r.(?) p.(=) - pathogenic g.24550473del - NRL(NM_006177.4):c.687delC (p.D231Tfs*87) - CPNE6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.-13110del r.(?) p.(=) - pathogenic g.24550505del g.24081296del NRL(NM_006177.4):c.654delC (p.C219Vfs*4) - NRL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. - c.-13110del r.(?) p.(=) - pathogenic g.24550505del g.24081296del NRL(NM_006177.4):c.654delC (p.C219Vfs*4) - NRL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+?/. - c.-13110del r.(?) p.(=) - likely pathogenic g.24550505del g.24081296del NRL(NM_006177.4):c.654delC (p.C219Vfs*4) - NRL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.-13069C>T r.(?) p.(=) - VUS g.24550546C>T - NRL(NM_006177.4):c.613G>A (p.V205M) - DCAF11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-13061C>T r.(?) p.(=) - VUS g.24550554C>T g.24081345C>T - - DCAF11_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.-12907_-12900dup r.(?) p.(=) - likely pathogenic g.24550708_24550715dup - - - NRL_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. - c.-12897C>T r.(?) p.(=) - benign g.24550718C>T g.24081509C>T NRL(NM_006177.4):c.441G>A (p.R147=) - NRL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.-12897C>T r.(?) p.(=) - likely benign g.24550718C>T g.24081509C>T NRL(NM_006177.4):c.441G>A (p.R147=) - NRL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.-12855G>A r.(?) p.(=) - likely benign g.24550760G>A g.24081551G>A NRL(NM_006177.4):c.399C>T (p.S133=) - NRL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
?/. - c.-11922C>T r.(?) p.(=) - VUS g.24551693C>T - NRL(NM_006177.4):c.365G>A (p.G122E) - DCAF11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-11872G>A r.(?) p.(=) - likely benign g.24551743G>A - NRL(NM_006177.4):c.315C>T (p.V105=) - DCAF11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.-11850A>G r.(?) p.(=) - VUS g.24551765A>G g.24082556A>G NRL(NM_006177.4):c.293T>C (p.L98P) - DCAF11_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.-11756G>A r.(?) p.(=) - likely benign g.24551859G>A g.24082650G>A NRL(NM_006177.4):c.199C>T (p.P67S) - NRL_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.-11754C>A r.(?) p.(=) - VUS g.24551861C>A - - - DCAF11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.-11709G>T r.(?) p.(=) - likely pathogenic g.24551906G>T g.24082697G>T - - NRL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
?/. - c.-11631C>T r.(?) p.(=) - VUS g.24551984C>T - NRL(NM_006177.4):c.74G>A (p.R25Q) - DCAF11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. - c.6C>T r.(=) p.(=) - benign g.24563620C>T g.24094411C>T - - PCK2_000003 50 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs77298044 Germline - 50/2782 individuals - 0 - Mohammed Faruq
-/. - c.362A>C r.(?) p.(Gln121Pro) - benign g.24567498A>C g.24098289A>C PCK2(NM_004563.4):c.362A>C (p.Q121P) - PCK2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-?/. - c.368C>T r.(?) p.(Pro123Leu) - likely benign g.24567504C>T g.24098295C>T PCK2(NM_004563.3):c.368C>T (p.P123L) - DCAF11_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.456_457insAGAGGTTTC r.(?) p.(Met152_Gln153insArgGlyPhe) - VUS g.24567592_24567593insAGAGGTTTC - PCK2(NM_001308054.1):c.54_55insAGAGGTTTC (p.M18_Q19insRGF) - DCAF11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. - c.460_460+1insCTGTGGATGAGAG r.spl? p.? - pathogenic g.24567596_24567597insCTGTGGATGAGAG - PCK2(NM_001308054.1):c.58_59insCTGTGGATGAGAG (p.G20Afs*31) - DCAF11_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.577C>T r.(?) p.(Arg193*) - VUS g.24567800C>T - PCK2(NM_004563.4):c.577C>T (p.R193*) - DCAF11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. - c.769T>G r.(?) p.(Ser257Ala) - VUS g.24568362T>G g.24099153T>G PCK2(NM_001018073.1):c.769T>G (p.(Ser257Ala)) - PCK2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Leiden
-?/. - c.1155C>T r.(?) p.(Gly385=) - likely benign g.24569343C>T - PCK2(NM_001308054.1):c.753C>T (p.G251=) - DCAF11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.*3202dup r.(?) p.(=) - likely benign g.24572716dup - PCK2(NM_001308054.1):c.1067-3dupC - DCAF11_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*3297C>T r.(=) p.(=) - VUS g.24572811C>T - PCK2(NM_001308054.1):c.1159C>T (p.R387C) - DCAF11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*3409T>C r.(=) p.(=) - VUS g.24572923T>C g.24103714T>C PCK2(NM_001308054.1):c.1271T>C (p.I424T) - DCAF11_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*3415G>A r.(=) p.(=) - VUS g.24572929G>A g.24103720G>A - - PCK2_000004 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs144284959 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-/. - c.*3477G>A r.(=) p.(=) - benign g.24572991G>A g.24103782G>A PCK2(NM_001308054.1):c.1339G>A (p.A447T) - DCAF11_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*3492G>A r.(=) p.(=) - VUS g.24573006G>A g.24103797G>A - - PCK2_000005 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61737098 Germline - 1/2795 individuals - 0 - Mohammed Faruq
-?/. - c.*3531C>T r.(=) p.(=) - likely benign g.24573045C>T g.24103836C>T PCK2(NM_001308054.1):c.1393C>T (p.P465S) - DCAF11_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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