Full data view for gene ZFX

Information The variants shown are described using the NM_003410.3 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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.115_116del r.(?) p.(Val39PhefsTer14) Maternal (confirmed) - likely pathogenic (recessive) g.24197356_24197357del g.24179239_24179240del - - ZFX_000023 ACMG PVS1, PM2 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES trio NDD Pat16 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected M - Denmark white - - - - 1 Johan den Dunnen
?/. - c.118T>C r.(?) p.(Phe40Leu) Unknown - VUS g.24197359T>C - ZFX(NM_003410.3):c.118T>C (p.F40L) - ZFX_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.409G>A r.(?) p.(Asp137Asn) Parent #1 - VUS g.24197650G>A g.24179533G>A D137N - ZFX_000011 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
-?/. - c.419A>G r.(?) p.(His140Arg) Unknown - likely benign g.24197660A>G - ZFX(NM_003410.4):c.419A>G (p.(His140Arg)) - ZFX_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.423_424del r.(?) p.(Ser142Ter) Maternal (confirmed) - likely pathogenic (recessive) g.24197664_24197665del g.24179547_24179548del - - ZFX_000024 ACMG PVS1, PM2 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES trio NDD Pat15 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected M - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
-?/. - c.452_460dup r.(?) p.(Gly151_Val153dup) Unknown - likely benign g.24197693_24197701dup - ZFX(NM_001178084.1):c.429_430insGTTGGACAT (p.(Asp143_Val144insValGlyHis)) - ZFX_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.459_467dup r.(?) p.(Glu154_Val156dup) Unknown - VUS g.24197700_24197708dup - ZFX(NM_003410.4):c.459_467dup (p.(Glu154_Val156dup)) - ZFX_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.465T>A r.(?) p.(His155Gln) Unknown - VUS g.24197706T>A g.24179589T>A ZFX(NM_001178084.1):c.465T>A (p.(His155Gln)), ZFX(NM_001178085.1):c.465T>A (p.H155Q) - ZFX_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.465T>A r.(?) p.(His155Gln) Unknown - likely benign g.24197706T>A g.24179589T>A ZFX(NM_001178084.1):c.465T>A (p.(His155Gln)), ZFX(NM_001178085.1):c.465T>A (p.H155Q) - ZFX_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.465T>A r.(?) p.(His155Gln) Parent #1 - VUS g.24197706T>A g.24179589T>A H155Q - ZFX_000008 recurrent, found 2 times PubMed: Tarpey 2009 - - Germline - 2/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 2 Lucy Raymond
+?/. - c.529dup r.(?) p.(Ser177PhefsTer12) Unknown - likely pathogenic (recessive) g.24197770dup g.24179653dup - - ZFX_000025 ACMG PVS1, PS2, PM2 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio NDD Pat14 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous parents F - United States white - - - - 1 Johan den Dunnen
?/. 3 c.581A>G r.(?) p.(Asn194Ser) Parent #1 - VUS g.24197822A>G g.24179705A>G N194S - ZFX_000012 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.647-81del r.(=) p.(=) Unknown - VUS g.24225362del g.24207245del - - ZFX_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.647-64dup r.(=) p.(=) Unknown - VUS g.24225379dup g.24207262dup - - ZFX_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+?/. - c.768dup r.(?) p.(Lys257Ter) Maternal (confirmed) - likely pathogenic (recessive) g.24225564dup g.24207447dup - - ZFX_000026 ACMG PVS1, PM2 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES trio NDD Pat10 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected M - United States Afghanistan;Pakistan - - - - 1 Johan den Dunnen
-?/. - c.797-6_797-3del r.spl? p.? Unknown - likely benign g.24225823_24225826del - ZFX(NM_001178084.1):c.797-10_797-7del (p.(=)) - ZFX_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.911A>G r.(?) p.(Asn304Ser) Parent #1 - VUS g.24225943A>G g.24207826A>G N304S - ZFX_000013 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
?/. - c.999_1001dup r.(?) p.(Ala341dup) Unknown - VUS g.24226393_24226395dup - ZFX(NM_001178085.1):c.999_1001dupTGC (p.A341dup), ZFX(NM_001330327.1):c.1116_1118dupTGC (p.A380dup) - ZFX_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1020C>T r.(?) p.(Ala340=) Unknown - likely benign g.24226414C>T - ZFX(NM_001330327.1):c.1137C>T (p.A379=) - ZFX_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1205_1206dup r.(?) p.(Arg403GlufsTer12) Unknown - likely pathogenic (recessive) g.24227128_24227129dup g.24209011_24209012dup - - ZFX_000027 ACMG PVS1_S, PS2, PM2 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio NDD Pat12 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous parents M - United Kingdom (Great Britain) white  - - - - 1 Johan den Dunnen
-?/. - c.1234+68C>T r.(=) p.(=) Unknown - likely benign g.24227225C>T - ZFX(NM_001178095.2):c.1293+9C>T - ZFX_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1319dup r.(?) p.(Leu440PhefsTer21) Unknown - likely pathogenic (recessive) g.24228394dup g.24210277dup - - ZFX_000028 ACMG PVS1_S, PS2, PM2 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio NDD Pat11 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous parents M - - Puerto Rico;Germany;Scandinavia - - - - 1 Johan den Dunnen
?/. - c.1471G>A r.(?) p.(Asp491Asn) Unknown - VUS g.24228546G>A g.24210429G>A ZFX(NM_001178085.1):c.1471G>A (p.D491N) - ZFX_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.1870G>A r.(?) p.(Ala624Thr) Parent #1 - VUS g.24228945G>A g.24210828G>A A624T - ZFX_000014 recurrent, found 40 times PubMed: Tarpey 2009 - - Germline - 40/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 40 Lucy Raymond
?/. 8 c.1954A>G r.(?) p.(Ile652Val) Parent #1 - VUS g.24229029A>G g.24210912A>G I652V - ZFX_000015 recurrent, found 5 times PubMed: Tarpey 2009 - - Germline - 5/208 cases - - - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - - for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 5 Lucy Raymond
+?/. - c.1996_1997del r.(?) p.(Met666ValfsTer2) Unknown - likely pathogenic (recessive) g.24229071_24229072del g.24210954_24210955del - - ZFX_000029 ACMG PVS1_S, PS2, PM2 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio NDD Pat13 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous parents M - United Kingdom (Great Britain) white  - - - - 1 Johan den Dunnen
+?/. - c.2290C>T r.(?) p.(Arg764Trp) Maternal (confirmed) - VUS g.24229365C>T g.24211248C>T - - ZFX_000022 ACMG PM2, PS2, PP3 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES trio NDD Pat1 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous carrier mother/grandmother M - - white - - - - 1 Johan den Dunnen
+?/. - c.2290C>T r.(?) p.(Arg764Trp) Unknown - VUS g.24229365C>T g.24211248C>T - - ZFX_000022 ACMG PM2, PS2, PP3 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio NDD Pat2 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous parents M - United Kingdom (Great Britain) white - - - - 1 Johan den Dunnen
+?/. - c.2312C>T r.(?) p.(Thr771Met) Unknown - VUS g.24229387C>T g.24211270C>T - - ZFX_000030 ACMG PM2, PS2, PP3 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio NDD Pat3 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous parents M - United States white  - - - - 1 Johan den Dunnen
+?/. - c.2312C>T r.(?) p.(Thr771Met) Unknown - VUS g.24229387C>T g.24211270C>T - - ZFX_000030 ACMG PM2, PS2, PP3 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio NDD Pat4 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous parents F - United States white  - - - - 1 Johan den Dunnen
+?/. - c.2312C>T r.(?) p.(Thr771Met) Unknown - VUS g.24229387C>T g.24211270C>T - - ZFX_000030 ACMG PM2, PS2, PP3 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio NDD Pat5 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous parents M - United States Latino - - - - 1 Johan den Dunnen
+?/. - c.2321A>G r.(?) p.(Tyr774Cys) Maternal (confirmed) - likely pathogenic (recessive) g.24229396A>G g.24211279A>G - - ZFX_000031 ACMG PM2, PS2, PP3 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 - - Germline yes - - - - DNA SEQ - - NDD Pat6A PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 3 affected sibs M - Netherlands Europe-W - - - - 3 Johan den Dunnen
+?/. - c.2321A>G r.(?) p.(Tyr774Cys) Maternal (confirmed) - likely pathogenic (recessive) g.24229396A>G g.24211279A>G - - ZFX_000031 ACMG PM2, PS2, PP3 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 - - Germline yes - - - - DNA SEQ, SEQ-NG - WGS trio NDD Pat6B PubMed: Shepherdson 2024, Journal: Shepherdson 2024 sib M - - Netherlands;Scotland - - - - 1 Johan den Dunnen
+?/. - c.2321A>G r.(?) p.(Tyr774Cys) Maternal (confirmed) - likely pathogenic (recessive) g.24229396A>G g.24211279A>G - - ZFX_000031 ACMG PM2, PS2, PP3 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 - - Germline yes - - - extremely skewed X-inactivation DNA SEQ - - NDD Pat6C PubMed: Shepherdson 2024, Journal: Shepherdson 2024 sib F - - Netherlands;Scotland - - - - 1 Johan den Dunnen
+?/. - c.2321A>G r.(?) p.(Tyr774Cys) Unknown - likely pathogenic (recessive) g.24229396A>G g.24211279A>G - - ZFX_000031 ACMG PM2, PS2, PP3 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 - - De novo - - - - - DNA SEQ, SEQ-NG - WES trio NDD Pat7 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous parents M - Japan Malay  - - - - 1 Johan den Dunnen
+?/. - c.2357G>A r.(?) p.(Arg786Gln) Maternal (confirmed) - VUS g.24229432G>A g.24211315G>A - - ZFX_000032 ACMG PM2, PS2, PP3 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - WES trio NDD Pat8 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected M - United States white - - - - 1 Johan den Dunnen
+?/. - c.2357G>A r.(?) p.(Arg786Gln) Unknown - VUS g.24229432G>A g.24211315G>A - - ZFX_000032 ACMG PM2, PS2, PP3 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 - - De novo - - - - extremely skewed X-inactivation DNA SEQ, SEQ-NG - WGS trio NDD Pat9 PubMed: Shepherdson 2024, Journal: Shepherdson 2024 2-generation family, 1 affected, unaffected heterozygous parents rF - United States Europe;Indian-Ojibwa;French-Canadian - - - - 1 Johan den Dunnen
?/. - c.2363C>G r.(?) p.(Pro788Arg) Unknown - VUS g.24229438C>G - ZFX(NM_003410.3):c.2363C>G (p.(Pro788Arg)) - ZFX_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2301del r.(=) p.(=) Unknown - VUS g.24231794del g.24213677del - - ZFX_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*2301del r.(=) p.(=) Unknown - VUS g.24231794del g.24213677del - - ZFX_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
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