Full data view for gene DCAF11

Information The variants shown are described using the NM_001163484.1 transcript reference sequence.

48 entries on 1 page. Showing entries 1 - 48.
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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     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
?/. - c.-37601C>T r.(?) p.(=) Unknown - VUS g.24546585C>T g.24077376C>T - - DCAF11_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-33738G>C r.(?) p.(=) Unknown - benign g.24550448G>C g.24081239G>C NRL(NM_006177.4):c.711C>G (p.L237=), NRL(NM_006177.5):c.711C>G (p.L237=) - NRL_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-33738G>C r.(?) p.(=) Unknown - benign g.24550448G>C g.24081239G>C NRL(NM_006177.4):c.711C>G (p.L237=), NRL(NM_006177.5):c.711C>G (p.L237=) - NRL_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-33721_-33711del r.(?) p.(=) Unknown - VUS g.24550465_24550475del - NRL(NM_006177.5):c.684_694delGTCCGGGGACC (p.S229Lfs*15) - DCAF11_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-33713del r.(?) p.(=) Unknown - pathogenic g.24550473del - NRL(NM_006177.4):c.687delC (p.D231Tfs*87) - CPNE6_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-33681del r.(?) p.(=) Unknown - pathogenic g.24550505del g.24081296del NRL(NM_006177.3):c.654delC (p.(Cys219Valfs*4)), NRL(NM_006177.4):c.654delC (p.C219Vfs*4), NRL(NM_006177.5):c.654delC (p.C219Vfs*4) - NRL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-33681del r.(?) p.(=) Unknown - pathogenic g.24550505del g.24081296del NRL(NM_006177.3):c.654delC (p.(Cys219Valfs*4)), NRL(NM_006177.4):c.654delC (p.C219Vfs*4), NRL(NM_006177.5):c.654delC (p.C219Vfs*4) - NRL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-33681del r.(?) p.(=) Unknown - pathogenic g.24550505del g.24081296del NRL(NM_006177.3):c.654delC (p.(Cys219Valfs*4)), NRL(NM_006177.4):c.654delC (p.C219Vfs*4), NRL(NM_006177.5):c.654delC (p.C219Vfs*4) - NRL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-33681del r.(?) p.(=) Unknown - likely pathogenic g.24550505del - NRL(NM_006177.3):c.654delC (p.(Cys219Valfs*4)), NRL(NM_006177.4):c.654delC (p.C219Vfs*4), NRL(NM_006177.5):c.654delC (p.C219Vfs*4) - NRL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-33640C>T r.(?) p.(=) Unknown - VUS g.24550546C>T - NRL(NM_006177.4):c.613G>A (p.V205M) - DCAF11_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-33632C>T r.(?) p.(=) Unknown - VUS g.24550554C>T g.24081345C>T - - DCAF11_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-33535G>T r.(?) p.(=) Unknown - likely pathogenic g.24550651G>T - - - NRL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-33478_-33471dup r.(?) p.(=) Unknown - likely pathogenic g.24550708_24550715dup - - - NRL_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-33468C>T r.(?) p.(=) Unknown - benign g.24550718C>T g.24081509C>T NRL(NM_006177.4):c.441G>A (p.R147=), NRL(NM_006177.5):c.441G>A (p.R147=) - NRL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-33468C>T r.(?) p.(=) Unknown - likely benign g.24550718C>T g.24081509C>T NRL(NM_006177.4):c.441G>A (p.R147=), NRL(NM_006177.5):c.441G>A (p.R147=) - NRL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-33426G>A r.(?) p.(=) Unknown - likely benign g.24550760G>A g.24081551G>A NRL(NM_006177.4):c.399C>T (p.S133=), NRL(NM_006177.5):c.399C>T (p.S133=) - NRL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-33426G>A r.(?) p.(=) Unknown - likely benign g.24550760G>A - NRL(NM_006177.4):c.399C>T (p.S133=), NRL(NM_006177.5):c.399C>T (p.S133=) - NRL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-32493C>T r.(?) p.(=) Unknown - VUS g.24551693C>T - NRL(NM_006177.4):c.365G>A (p.G122E) - DCAF11_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-32443G>A r.(?) p.(=) Unknown - likely benign g.24551743G>A - NRL(NM_006177.4):c.315C>T (p.V105=) - DCAF11_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-32421A>G r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-32355G>A r.(?) p.(=) Unknown - VUS g.24551831G>A - - - NRL_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-32327G>A r.(?) p.(=) Unknown - likely benign g.24551859G>A g.24082650G>A NRL(NM_006177.5):c.199C>T (p.P67S) - NRL_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-32325C>A r.(?) p.(=) Unknown - VUS g.24551861C>A - - - DCAF11_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-32325C>T r.(?) p.(=) Unknown - VUS g.24551861C>T - NRL(NM_006177.5):c.197G>A (p.R66Q) - DCAF11_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-32280G>T r.(?) p.(=) Unknown - likely pathogenic g.24551906G>T g.24082697G>T - - NRL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-32279G>A r.(?) p.(=) Unknown - pathogenic g.24551907G>A - - - NRL_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-32276A>G r.(?) p.(=) Unknown - pathogenic g.24551910A>G - - - NRL_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-32202C>T r.(?) p.(=) Unknown - VUS g.24551984C>T - NRL(NM_006177.5):c.74G>A (p.R25Q) - DCAF11_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-32169T>G r.(?) p.(=) Unknown - VUS g.24552017T>G - NRL(NM_001354768.3):c.41A>C (p.(Asn14Thr)) - DCAF11_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-16688A>C r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-16682C>T r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-16594_-16593insAGAGGTTTC r.(?) p.(=) Unknown - VUS g.24567592_24567593insAGAGGTTTC - PCK2(NM_001308054.1):c.54_55insAGAGGTTTC (p.M18_Q19insRGF) - DCAF11_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-16590_-16589insCTGTGGATGAGAG r.(?) p.(=) Unknown - pathogenic g.24567596_24567597insCTGTGGATGAGAG - PCK2(NM_001308054.1):c.58_59insCTGTGGATGAGAG (p.G20Afs*31) - DCAF11_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-16386C>T r.(?) p.(=) Unknown - VUS g.24567800C>T - PCK2(NM_004563.4):c.577C>T (p.(Arg193Ter), p.R193*) - DCAF11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-16386C>T r.(?) p.(=) Unknown - VUS g.24567800C>T - PCK2(NM_004563.4):c.577C>T (p.(Arg193Ter), p.R193*) - DCAF11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-16386C>T r.(?) p.(=) Unknown - VUS g.24567800C>T - PCK2(NM_004563.4):c.577C>T (p.(Arg193Ter), p.R193*) - DCAF11_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-16302C>T r.(?) p.(=) Unknown - VUS g.24567884C>T - PCK2(NM_004563.4):c.661C>T (p.(Gln221Ter)) - DCAF11_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-15824T>G r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-14843C>T r.(?) p.(=) Unknown - likely benign g.24569343C>T - PCK2(NM_001308054.1):c.753C>T (p.G251=) - DCAF11_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-14840G>A r.(?) p.(=) Unknown - likely benign g.24569346G>A - PCK2(NM_001308054.1):c.756G>A (p.V252=) - DCAF11_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-14763G>T r.(?) p.(=) Unknown - VUS g.24569423G>T - PCK2(NM_001018073.2):c.1235G>T (p.G412V), PCK2(NM_004563.3):c.1234+1G>T - DCAF11_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-11470dup r.(?) p.(=) Unknown - likely benign g.24572716dup - PCK2(NM_001308054.1):c.1067-3dupC - DCAF11_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-11435C>T r.(?) p.(=) Unknown - VUS g.24572751C>T - PCK2(NM_004563.4):c.1501C>T (p.R501W) - DCAF11_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-11375C>T r.(?) p.(=) Unknown - VUS g.24572811C>T - PCK2(NM_001308054.1):c.1159C>T (p.R387C) - DCAF11_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-11329G>A r.(?) p.(=) Unknown - VUS g.24572857G>A - PCK2(NM_004563.4):c.1607G>A (p.R536Q) - DCAF11_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-11263T>C r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-11195G>A r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-11141C>T r.(?) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
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