Full data view for gene ZNF711

Information The variants shown are described using the NM_021998.4 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.-27+5C>T r.spl? p.? Unknown - likely benign g.84501033C>T g.85246027C>T ZNF711(NM_021998.5):c.-27+5C>T - ZNF711_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-26-8T>A r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-26-7T>G r.(=) p.(=) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.(?)A>G r.(?) p.(Thr?Ala) Parent #1 - VUS g.?A>G - 601A>G (T201A) - ZNF711_000000 - PubMed: Tarpey 2009 - - Germline - 1 control - - - DNA SEQ - - - 19377206-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.(?)A>G r.(?) p.(Thr?=) Parent #1 - VUS g.?A>G - 738A>G (T246T) - ZNF711_000000 - PubMed: Tarpey 2009 - - Germline - 3/1129 chromosomes - - - DNA SEQ - - - 19377209-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 3 Lucy Raymond
?/. - c.(?)A>G r.(?) p.(His?Arg) Parent #1 - VUS g.?A>G - 761A>G (H254R) - ZNF711_000000 variant not possible PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377212-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
./. - c.(?)A>G r.(=) p.(Thr?=) Parent #1 - VUS g.?A>G - 738A>G (T246T) - ZNF711_000000 variant not possible PubMed: Tarpey 2009 - - Germline - 8/208 cases - - - DNA SEQ - - MRX;IDX 19377215-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 8 Lucy Raymond
?/. - c.(?)G>A r.(?) p.(Thr?=) Parent #1 - VUS g.?G>A - 408G>A (T136T) - ZNF711_000000 - PubMed: Tarpey 2009 - - Germline - 1 control - - - DNA SEQ - - - 19377208-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.(?)G>A r.(?) p.(Gly?Asp) Parent #1 - VUS g.?G>A - 356G>A (G119E) - ZNF711_000000 - PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377211-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.25G>C r.(?) p.(Gly9Arg) Unknown - VUS g.84502603G>C - ZNF711(NM_021998.5):c.25G>C (p.G9R) - ZNF711_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.237G>A r.(?) p.(Glu79=) Unknown - likely benign g.84510422G>A - ZNF711(NM_001330574.1):c.237G>A (p.E79=) - ZNF711_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.469A>G r.(?) p.(Met157Val) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.472G>T r.(?) p.(Val158Leu) Unknown - VUS g.84510657G>T g.85255651G>T - - ZNF711_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.511A>G r.(?) p.(Thr171Ala) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.584_586dup r.(?) p.(Asp195dup) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.731T>C r.(?) p.(Ile244Thr) Maternal (inferred) - likely pathogenic g.84519389T>C g.85264383T>C - - ZNF711_000004 - PubMed: van der Werf 2016, Journal: van der Werf 2016 - - Germline yes - - - - DNA SEQ-NG - - MRX;IDX - PubMed: van der Werf 2016, Journal: van der Werf 2016 - M no - - - - - - 1 Ilse van der Werf
./. - c.731T>C r.(?) p.(Ile244Thr) Maternal (confirmed) - pathogenic g.84519389T>C g.85264383T>C ZNF711 I244T - ZNF711_000004 - PubMed: Hu 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX 25644381-FamN10 PubMed: Hu 2016 family, 6 affected, 4 unaffected heterozygous carrier females M - - - - - - - 6 Johan den Dunnen
+/. - c.731T>C r.(?) p.(Ile244Thr) Unknown - pathogenic g.84519389T>C - - - ZNF711_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 6 c.798A>G r.(=) p.(Thr266=) Maternal (inferred) - likely benign g.84520143A>G g.85265137A>G - - ZNF711_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. 6 c.798A>G r.(?) p.(Thr266=) Maternal (inferred) - likely benign g.84520143A>G g.85265137A>G - - ZNF711_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.858G>C r.(?) p.(Gln286His) Unknown - VUS g.84520203G>C - ZNF711(NM_001330574.1):c.858G>C (p.Q286H) - ZNF711_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.917-1012C>T r.(=) p.(=) Unknown - likely benign g.84522288C>T - ZNF711(NM_001330574.1):c.921C>T (p.C307=) - ZNF711_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1023A>T r.(?) p.(Gln341His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
-?/. 8i c.1108+149dup r.(?) p.(=) Unknown - likely benign g.84525301dup g.85270295dup - - ZNF711_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.1199G>A r.(?) p.(Arg400Lys) Unknown - VUS g.84525747G>A g.85270741G>A - - ZNF711_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1406_1407insTCTCTTATTTTAAG r.(?) p.(Arg469SerfsTer5) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1543C>T r.(?) p.(Arg515*) Parent #1 - 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 - - - DNA SEQ - - MRX;IDX 19377204-Pat? PubMed: Tarpey 2009 3-generation family, 6 affected males, Unaffected heterozygous carrier females M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 6 Lucy Raymond
?/. 9 c.1571T>C r.(?) p.(Met524Thr) Parent #1 - VUS g.84526119T>C g.85271113T>C 1601T>C (M534T) - ZNF711_000007 - PubMed: Tarpey 2009 - - Germline - 1 control - - - DNA SEQ - - - 19377205-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1735C>T r.(?) p.(Arg579Cys) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1736G>A r.(?) p.(Arg579His) Unknown - 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 - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1739A>G r.(?) p.(His580Arg) Unknown - VUS g.84526287A>G g.85271281A>G - - ZNF711_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1790A>G r.(?) p.(His597Arg) Unknown - likely benign g.84526338A>G g.85271332A>G ZNF711(NM_001330574.2):c.1928A>G (p.H643R), ZNF711(NM_021998.4):c.1790A>G - ZNF711_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1790A>G r.(?) p.(His597Arg) Unknown - VUS g.84526338A>G - ZNF711(NM_001330574.2):c.1928A>G (p.H643R), ZNF711(NM_021998.4):c.1790A>G - ZNF711_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.1802A>G r.(?) p.(Asn601Ser) Parent #1 - VUS g.84526350A>G g.85271344A>G 1832A>G (N611S) - ZNF711_000008 - PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377213-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.1802A>G r.(?) p.(Asn601Ser) Unknown - likely benign g.84526350A>G g.85271344A>G ZNF711(NM_021998.4):c.1802A>G (p.(Asn601Ser)) - ZNF711_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1812C>T r.(?) p.(Asp604=) Unknown - likely benign g.84526360C>T - ZNF711(NM_001330574.1):c.1950C>T (p.D650=) - ZNF711_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 9 c.1866G>T r.(?) p.(Glu622Asp) Parent #1 - VUS g.84526414G>T g.85271408G>T 1896G>T (E632D) - ZNF711_000009 - PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377210-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. 9 c.1968A>G r.(?) p.(Thr656=) Parent #1 - VUS g.84526516A>G g.85271510A>G 1998A>G (T666T) - ZNF711_000010 - PubMed: Tarpey 2009 - - Germline - 1 control - - - DNA SEQ - - - 19377207-Pat? PubMed: Tarpey 2009 - - - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. 9 c.1968A>G r.(?) p.(Thr656=) Parent #1 - VUS g.84526516A>G g.85271510A>G 1998A>G (T666T) - ZNF711_000010 - PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - DNA SEQ - - MRX;IDX 19377214-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
-?/. - c.1968A>G r.(?) p.(Thr656=) Unknown - likely benign g.84526516A>G g.85271510A>G ZNF711(NM_021998.4):c.1968A>G (p.T656=) - ZNF711_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.2054del r.(2054del) p.(Phe685Serfs*7) Maternal (confirmed) - likely pathogenic g.84526602del g.85271596del - - ZNF711_000003 - PubMed: van der Werf 2016, Journal: van der Werf 2016 - - Germline yes - - - - DNA SEQ-NG-I - - MRX;IDX - PubMed: van der Werf 2016, Journal: van der Werf 2016 - M no - - - - - - 1 Ilse van der Werf
?/. - c.2081A>G r.(?) p.(His694Arg) Maternal (confirmed) - VUS g.84526629A>G - - - ZNF711_000036 - - - - Germline - - - - - DNA SEQ-NG - WES ID, MRX97 051P - - M no Spain - - - - - 1 Alejandro Brea-Fernández
+/. - c.2116T>C r.(?) p.(Cys706Arg) Unknown - pathogenic g.84526664T>C - ZNF711(NM_001330574.2):c.2254T>C (p.C752R) - ZNF711_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.2127_2128del r.(?) p.(Cys709*) Parent #1 - 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 - - - DNA SEQ - - MRX;IDX 19377203-Pat? PubMed: Tarpey 2009 3-generation family, 5 affecteds (5M), unaffected heterozygous carrier females M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 5 Lucy Raymond
?/. - c.2146G>A r.(?) p.(Ala716Thr) Unknown - VUS g.84526694G>A - - - ZNF711_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 9 c.2161C>T r.(?) p.(Arg721*) Both (homozygous) ACMG likely pathogenic (recessive) g.84526709C>T g.85271703C>T NM_001330574.2:c.2299C>T ; p.(Arg767*) - ZNF711_000038 ACMG: PVS1_STR, PS4_SUP, PM2_SUP - VCV002430809.1 - Germline ? - - - - DNA SEQ-NG-I Blood - MRX97 240363 - - M no Germany - - - - - 1 Andreas Laner
+?/. - c.2164C>T r.(?) p.(His722Tyr) Unknown - likely pathogenic g.84526712C>T g.85271706C>T - - ZNF711_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2179C>T r.(?) p.(His727Tyr) Unknown - likely pathogenic g.84526727C>T - ZNF711(NM_021998.4):c.2179C>T (p.(His727Tyr)) - ZNF711_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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