Unique variants in gene ZNF711

Information The variants shown are described using the NM_021998.4 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

Reported     

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     
-?/. 1 - c.-27+5C>T r.spl? p.? - likely benign g.84501033C>T g.85246027C>T ZNF711(NM_021998.4):c.-27+5C>T - ZNF711_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.-26-8T>A r.(=) p.(=) - likely benign g.84502545T>A g.85247539T>A ZNF711(NM_021998.4):c.-26-8T>A (p.(=)) - ZNF711_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.-26-7T>G r.(=) p.(=) - VUS g.84502546T>G g.85247540T>G ZNF711(NM_021998.4):c.-26-7T>G (p.(=)) - ZNF711_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/., ./. 4 - c.(?)A>G r.(?), r.(=) p.(Thr?Ala), p.(Thr?=), p.(His?Arg) - VUS g.?A>G - 601A>G (T201A), 738A>G (T246T), 761A>G (H254R) - ZNF711_000000 variant not possible PubMed: Tarpey 2009 - - Germline - 1 control, 3/1129 chromosomes, 1/208 cases, 8/208 cases - - - Lucy Raymond
?/. 2 - c.(?)G>A r.(?) p.(Thr?=), p.(Gly?Asp) - VUS g.?G>A - 408G>A (T136T), 356G>A (G119E) - ZNF711_000000 - PubMed: Tarpey 2009 - - Germline - 1 control, 1/208 cases - - - Lucy Raymond
-?/. 1 - c.469A>G r.(?) p.(Met157Val) - likely benign g.84510654A>G g.85255648A>G ZNF711(NM_001330574.1):c.469A>G (p.M157V) - ZNF711_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.472G>T r.(?) p.(Val158Leu) - VUS g.84510657G>T g.85255651G>T - - ZNF711_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.511A>G r.(?) p.(Thr171Ala) - likely benign g.84510696A>G g.85255690A>G ZNF711(NM_001330574.1):c.511A>G (p.T171A) - ZNF711_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.584_586dup r.(?) p.(Asp195dup) - likely benign g.84510769_84510771dup g.85255763_85255765dup ZNF711(NM_021998.4):c.584_586dupATG (p.D195dup) - ZNF711_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/., ./. 2 5 c.731T>C r.(?) p.(Ile244Thr) - likely pathogenic, pathogenic g.84519389T>C g.85264383T>C ZNF711 I244T - ZNF711_000004 - PubMed: van der Werf 2016, Journal: van der Werf 2016, PubMed: Hu 2016 - - Germline yes - - - - Ilse van der Werf, Johan den Dunnen
-?/. 2 6 c.798A>G r.(=), r.(?) p.(Thr266=) - likely benign g.84520143A>G g.85265137A>G - - ZNF711_000002 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1023A>T r.(?) p.(Gln341His) - VUS g.84525067A>T g.85270061A>T ZNF711(NM_021998.4):c.1023A>T (p.(Gln341His)) - ZNF711_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 8i c.1108+149dup r.(?) p.(=) - likely benign g.84525301dup g.85270295dup - - ZNF711_000001 - - - - Germline - - - - - Yu Sun
?/. 1 - c.1199G>A r.(?) p.(Arg400Lys) - VUS g.84525747G>A g.85270741G>A - - ZNF711_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1406_1407insTCTCTTATTTTAAG r.(?) p.(Arg469SerfsTer5) - pathogenic g.84525954_84525955insTCTCTTATTTTAAG g.85270948_85270949insTCTCTTATTTTAAG ZNF711(NM_021998.4):c.1406_1407insTCTCTTATTTTAAG (p.R469Sfs*5) - ZNF711_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 9 c.1543C>T r.(?) p.(Arg515*) - pathogenic g.84526091C>T g.85271085C>T 1573C>T (R525*) - ZNF711_000006 NOTE: variant description corrected PubMed: Tarpey 2009, OMIM:var0002 - - Germline yes 1/208 cases - - - Lucy Raymond
?/. 1 9 c.1571T>C r.(?) p.(Met524Thr) - VUS g.84526119T>C g.85271113T>C 1601T>C (M534T) - ZNF711_000007 - PubMed: Tarpey 2009 - - Germline - 1 control - - - Lucy Raymond
-?/. 1 - c.1735C>T r.(?) p.(Arg579Cys) - likely benign g.84526283C>T g.85271277C>T ZNF711(NM_001330574.1):c.1873C>T (p.R625C) - ZNF711_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1736G>A r.(?) p.(Arg579His) - VUS g.84526284G>A g.85271278G>A ZNF711(NM_021998.4):c.1736G>A (p.R579H) - ZNF711_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1739A>G r.(?) p.(His580Arg) - VUS g.84526287A>G g.85271281A>G - - ZNF711_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.1790A>G r.(?) p.(His597Arg) - likely benign g.84526338A>G g.85271332A>G ZNF711(NM_021998.4):c.1790A>G - ZNF711_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 9 c.1802A>G r.(?) p.(Asn601Ser) - VUS g.84526350A>G g.85271344A>G 1832A>G (N611S) - ZNF711_000008 - PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. 1 9 c.1866G>T r.(?) p.(Glu622Asp) - VUS g.84526414G>T g.85271408G>T 1896G>T (E632D) - ZNF711_000009 - PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/., -?/. 3 9 c.1968A>G r.(?) p.(Thr656=) - VUS, likely benign g.84526516A>G g.85271510A>G 1998A>G (T666T), ZNF711(NM_021998.4):c.1968A>G (p.T656=) - ZNF711_000010 VKGL data sharing initiative Nederland PubMed: Tarpey 2009 - - Germline, CLASSIFICATION record - 1 control, 2/208 cases - - - Lucy Raymond, VKGL-NL_Rotterdam
+?/. 1 9 c.2054del r.(2054del) p.(Phe685Serfs*7) - likely pathogenic g.84526602del g.85271596del - - ZNF711_000003 - PubMed: van der Werf 2016, Journal: van der Werf 2016 - - Germline yes - - - - Ilse van der Werf
+/. 1 9 c.2127_2128del r.(?) p.(Cys709*) - pathogenic g.84526675_84526676del g.85271669_85271670del 2157_2158delTG (719fs*1) - ZNF711_000005 NOTE: variant description corrected PubMed: Tarpey 2009, OMIM:var0001 - - Germline yes 1/208 cases - - - Lucy Raymond
+?/. 1 - c.2164C>T r.(?) p.(His722Tyr) - likely pathogenic g.84526712C>T g.85271706C>T - - ZNF711_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
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