Full data view for gene ZC4H2

Information The variants shown are described using the NM_018684.3 transcript reference sequence.

49 entries on 1 page. Showing entries 1 - 49.
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Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

Allele     

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/Death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+/. _1_1i c.-56_(53+1_54-1)del pathogenic (recessive) r.0? p.0? Unknown g.(?_64186618)_(64267316_?)del - - - ZC4H2_000011 - Frints 2019, submitted - - De novo - - - 0 - DNA arrayCGH - - WRWF Fam10 Frints 2019, submitted - F - - - - 0 - - 1 Vera Kalscheuer
+/. _1_1i c.-56_(53+1_54-1)del pathogenic (recessive) r.0? p.0? Unknown g.(_64166588)_(64361318_?)del - - - ZC4H2_000011 - Frints 2019, submitted - - De novo - - - 0 - DNA arrayCGH - - WRWF Fam11 Frints 2019, submitted - F - - - - 0 - - 1 Vera Kalscheuer
+/. _1_1i c.-56_(53+1_54-1)del pathogenic (recessive) r.0? p.0? Unknown g.(?_64192739)_(64528227_?)del - - - ZC4H2_000011 - Frints 2019, submitted - - De novo - - - 0 - DNA arrayCGH - - WRWF Fam12 Frints 2019, submitted - F - - - - 0 - - 1 Vera Kalscheuer
+/. _1_1i c.-56_(53+1_54-1)del pathogenic (recessive) r.0? p.0? Unknown g.(?_64170814)_(64414573_?)del - - - ZC4H2_000011 - Frints 2019, submitted - - De novo - - - 0 - DNA arrayCGH - - WRWF Fam20 Frints 2019, submitted - F - - - - 0 - - 1 Vera Kalscheuer
+/. _1_1i c.-56_(53+1_54-1)del pathogenic (recessive) r.0? p.0? Unknown g.(?_64170839)_(64414573_?)del - - - ZC4H2_000011 - Frints 2019, submitted - - De novo - - - 0 - DNA arrayCGH - - WRWF Fam23 Frints 2019, submitted - F - - - - 0 - - 1 Vera Kalscheuer
+/. _1_1i_ c.-156_(53+1_?)inv pathogenic (recessive) r.0 p.0 Unknown g.(64097483_64193984)_(150240223_150307546)inv - de novo X inversion - ZC4H2_000009 - PubMed: Hirata 2013 - - De novo - - - 0 - DNA SEQ - - WRWF simplex case 1 PubMed: Hirata 2013 sporadic male patient M - Germany - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.0 pathogenic (recessive) r.0 p.0 Unknown g.(63500000_63666909)_(64493512_64500000)del - del 63,666,909–64,493,512 - ZC4H2_000010 - PubMed: Hirata 2013 - - Unknown - - - 0 - DNA SEQ - - WRWF simplex case 2 PubMed: Hirata 2013 heterozygous female F - United States - - 0 - - 1 Johan den Dunnen
+/. _1_5_ c.0 pathogenic (recessive) r.0 p.0 Unknown g.(63900000_64049596)_(64370757_64400000)del - del 64,049,596–64,370,757 - ZC4H2_000010 - PubMed: Hirata 2013 - - Unknown - - - 0 - DNA SEQ - - WRWF simplex case 3 PubMed: Hirata 2013 heterozygous female F - Spain - - 0 - - 1 Johan den Dunnen
+/. - c.67C>T pathogenic (recessive) r.(?) p.(Gln23*) Unknown g.64141855G>A - - - ZC4H2_000023 - Frints 2019, submitted - - De novo - - - 0 - DNA SEQ-NG - - WRWF Fam16 Frints 2019, submitted - F - United Kingdom (Great Britain) - - 0 - - 1 Vera Kalscheuer
+?/. - c.161T>C likely pathogenic r.(?) p.(Leu54Pro) Unknown g.64141761A>G - - - ZC4H2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.187G>C pathogenic (recessive) r.(?) p.(Val63Leu) Maternal (confirmed) g.64141735C>G - ZC4H2 V63L - ZC4H2_000008 - PubMed: Hirata 2013, PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX Family 1 / FamD139 PubMed: Hirata 2013, PubMed: Hu 2016 family, 6 affected males, 5 unaffected heterozygous carrier females M - Germany - - 0 - - 6 Johan den Dunnen
+/. - c.199C>T pathogenic r.(?) p.(Arg67*) Unknown g.64141723G>A - - - ZC4H2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.199C>T pathogenic (recessive) r.(?) p.(Arg67*) Unknown g.64141723G>A - - - ZC4H2_000006 - Frints 2019, submitted - - De novo - - - 0 - DNA SEQ-NG - - WRWF Fam17 Frints 2019, submitted - F - - - - 0 - - 1 Vera Kalscheuer
+/. - c.210C>A pathogenic r.(?) p.(His70Gln) Maternal (confirmed) g.64141712G>T g.64921832G>T - - ZC4H2_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s), unaffected heterozygous carrier mother M - United Kingdom (Great Britain) - - 0 Decipher - 2 Johan den Dunnen
+/. - c.210C>A pathogenic r.(?) p.(His70Gln) Maternal (confirmed) g.64141712G>T g.64921832G>T - - ZC4H2_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 sib2 M - United Kingdom (Great Britain) - - 0 Decipher - 1 Johan den Dunnen
?/. - c.223G>A VUS r.(?) p.(Val75Met) Unknown g.64141699C>T - ZC4H2(NM_001178032.2):c.154G>A (p.V52M) - ZC4H2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.223G>A likely benign r.(?) p.(Val75Met) Unknown g.64141699C>T - ZC4H2(NM_001178032.2):c.154G>A (p.V52M) - ZC4H2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.225+2T>C pathogenic (recessive) r.spl p.? Unknown g.64141695A>G - - - ZC4H2_000022 - Frints 2019, submitted - - De novo - - - 0 skewed X-inactivation DNA SEQ-NG - - WRWF Fam2 Frints 2019, submitted - F - - - - 0 - - 1 Vera Kalscheuer
+/. - c.226-2A>G pathogenic r.spl? p.? Unknown g.64140135T>C - - - ZC4H2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.226-1G>T pathogenic (recessive) r.spl p.? Unknown g.64140134C>A - - - ZC4H2_000021 - Frints 2019, submitted - - De novo - - - 0 skewed X-inactivation DNA SEQ-NG - - WRWF Fam21 Frints 2019, submitted - F - - - - 0 - - 1 Vera Kalscheuer
+/. - c.243_246del pathogenic (recessive) r.(?) p.(Lys81Asnfs*6) Unknown g.64140113_64140116del - - - ZC4H2_000020 - Frints 2019, submitted - - De novo - - - 0 - DNA SEQ-NG - - WRWF Fam22 Frints 2019, submitted - F - - - - 0 - - 1 Vera Kalscheuer
+/. - c.275_276del pathogenic (recessive) r.(?) p.(Glu92Valfs*7) Unknown g.64140083_64140084del - - - ZC4H2_000004 - Frints 2019, submitted - - Germline - - - 0 random X-inactivation DNA SEQ-NG - - WRWF Fam3 Frints 2019, submitted family, 1 affected male, 1 affected female, healthy carrier mother (mosaic) F;M - Netherlands - - 0 - - 2 Vera Kalscheuer
?/. - c.374A>G VUS r.(?) p.(Glu125Gly) Unknown g.64139985T>C - ZC4H2(NM_001178032.2):c.305A>G (p.(Glu102Gly)) - ZC4H2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.426G>A pathogenic (recessive) r.(?) p.(Trp142*) Unknown g.64139057C>T - - - ZC4H2_000019 - Frints 2019, submitted - - De novo - - - 0 - DNA SEQ-NG - - WRWF Fam14 Frints 2019, submitted - F - United Kingdom (Great Britain) - - 0 - - 1 Vera Kalscheuer
+/. - c.451del pathogenic (recessive) r.(?) p.(Ile151Serfs*36) Unknown g.64139032del - - - ZC4H2_000018 - Frints 2019, submitted - - De novo - - - 0 skewed X-inactivation DNA SEQ-NG - - WRWF Fam13 Frints 2019, submitted - F - - - - 0 - - 1 Vera Kalscheuer
?/. - c.547C>A VUS r.(?) p.(Pro183Thr) Unknown g.64138936G>T - - - ZC4H2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.592C>T pathogenic r.(?) p.(Arg198Trp) Unknown g.64137746G>A - ZC4H2(NM_001178032.3):c.523C>T (p.R175W) - ZC4H2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.592C>T likely pathogenic r.(?) p.(Arg198Trp) Unknown g.64137746G>A - ZC4H2(NM_001178032.3):c.523C>T (p.R175W) - ZC4H2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.593G>A likely pathogenic r.(?) p.(Arg198Gln) Unknown g.64137745C>T - - - ZC4H2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.593G>A pathogenic (recessive) r.(?) p.(Arg198Gln) Unknown g.64137745C>T - - - ZC4H2_000003 - Frints 2019, submitted - - Germline - - - 0 - DNA SEQ-NG - - WRWF Fam4 Frints 2019, submitted family, 1 affected male, healthy carrier mother M - - - - 0 - - 1 Vera Kalscheuer
+/. - c.593G>A pathogenic (recessive) r.(?) p.(Arg198Gln) Unknown g.64137745C>T - - - ZC4H2_000003 - Frints 2019, submitted - - De novo - - - 0 - DNA SEQ-NG - - WRWF Fam24 Frints 2019, submitted - M - - - - 0 - - 1 Vera Kalscheuer
+/. 5 c.593G>A pathogenic (recessive) r.(?) p.(Arg198Gln) Maternal (confirmed) g.64137745C>T - - - ZC4H2_000003 - PubMed: Hirata 2013 - - Germline - - - 0 - DNA SEQ - - WRWF Family 2-M PubMed: Hirata 2013 5-generation family, 5 affected males, 1 symptomatic heterozygous carrier female M - Germany - - 0 - - 6 Johan den Dunnen
+/. 5 c.593G>A pathogenic (recessive) r.(?) p.(Arg198Gln) Parent #1 g.64137745C>T - - - ZC4H2_000003 - PubMed: Hirata 2013 - - Germline - - - 0 - DNA SEQ - - WRWF Family 2-F PubMed: Hirata 2013 heterozygous females F - Germany - - 0 - - 1 Johan den Dunnen
+?/. - c.598G>A likely pathogenic r.(?) p.(Ala200Thr) Unknown g.64137740C>T - - - ZC4H2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.598G>A pathogenic (recessive) r.(?) p.(Ala200Thr) Unknown g.64137740C>T - - - ZC4H2_000002 - Frints 2019, submitted - - Germline - - - 0 - DNA SEQ-NG - - WRWF Fam5 Frints 2019, submitted family, 2 affected males, 1 mildly affected carrier female, 1 healthy carrier female F;M - Netherlands - - 0 - - 3 Vera Kalscheuer
+/. - c.599C>T pathogenic (recessive) r.(?) p.(Ala200Val) Unknown g.64137739G>A - - - ZC4H2_000017 - Frints 2019, submitted - - Germline - - - 0 - DNA SEQ-NG - - WRWF Fam6 Frints 2019, submitted family, 1 affected (1M), 1 carrier mother very mildly affected F - - - - 0 - - 2 Vera Kalscheuer
+/. - c.601C>T pathogenic (recessive) r.(?) p.(Pro201Ser) Unknown g.64137737G>A - - - ZC4H2_000016 - Frints 2019, submitted - - Germline - - - 0 - DNA SEQ-NG - - WRWF Fam7 Frints 2019, submitted - F;M - - - - 0 - - 1 Vera Kalscheuer
+/. 5 c.601C>T pathogenic (recessive) r.(?) p.(Pro201Ser) Maternal (confirmed) g.64137737G>A - - - ZC4H2_000016 - PubMed: Hirata 2013 - - Germline - - - 0 - DNA SEQ - - WRWF Family 3-M PubMed: Hirata 2013 4-generation family, 5 affected males, 7 symptomatic heterozygous carrier female M - Netherlands - - 0 - - 12 Johan den Dunnen
+/. 5 c.601C>T pathogenic (recessive) r.(?) p.(Pro201Ser) Parent #1 g.64137737G>A - - - ZC4H2_000016 - PubMed: Hirata 2013 - - Germline - - - 0 - DNA SEQ - - WRWF Family 3-F PubMed: Hirata 2013 heterozygous females F - Netherlands - - 0 - - 7 Johan den Dunnen
+/. - c.602C>A pathogenic (recessive) r.(?) p.(Pro201His) Unknown g.64137736G>T - - - ZC4H2_000015 - Frints 2019, submitted - - Germline - - - 0 - DNA SEQ-NG - - WRWF Fam19 Frints 2019, submitted family, 1 affected, healthy carrier mother F - - - - 0 - - 1 Vera Kalscheuer
+/. - c.607T>A pathogenic (recessive) r.(?) p.(Cys203Ser) Unknown g.64137731A>T - - - ZC4H2_000014 - Frints 2019, submitted - - De novo - - - 0 - DNA SEQ-NG - - WRWF Fam15 Frints 2019, submitted - F - United Kingdom (Great Britain) - - 0 - - 1 Vera Kalscheuer
+/. - c.617G>T pathogenic (recessive) r.(?) p.(Cys206Phe) Unknown g.64137721C>A - - - ZC4H2_000013 - Frints 2019, submitted - - De novo - - - 0 - DNA SEQ-NG - - WRWF Fam8 Frints 2019, submitted - F - - - - 0 - - 1 Vera Kalscheuer
?/. 5 c.637C>T VUS r.(?) p.(Arg213Trp) Parent #1 g.64137701G>A - R213W - ZC4H2_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - DNA SEQ - - MRX;IDX 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - 1 Lucy Raymond
+/. 5 c.637C>T pathogenic r.(?) p.(Arg213Trp) Maternal (confirmed) g.64137701G>A - ZC4H2 R190W - ZC4H2_000007 - PubMed: Hirata 2013, PubMed: Hu 2016 - - Germline yes - - 0 - DNA SEQ, SEQ-NG - WES-X chromosome MRX;IDX Family 5 males / FamP195 PubMed: Hirata 2013, PubMed: Hu 2016 4-generation family, 2 affected males, 2 symptomatic heterozygous carrier female M - France - - 0 - - 4 Johan den Dunnen
+/. - c.637C>T pathogenic (recessive) r.(?) p.(Arg213Trp) Unknown g.64137701G>A - - - ZC4H2_000007 - Frints 2019, submitted - - De novo - - - 0 - DNA SEQ-NG - - WRWF Fam18 Frints 2019, submitted - M - United Kingdom (Great Britain) - - 0 - - 1 Vera Kalscheuer
+/. 5 c.637C>T pathogenic (recessive) r.(?) p.(Arg213Trp) Maternal (confirmed) g.64137701G>A - - - ZC4H2_000007 - PubMed: Hirata 2013 - - Germline - - - 0 - DNA SEQ - - WRWF Family 4-M PubMed: Hirata 2013 2-generation family, 2 affected males, 1 symptomatic heterozygous carrier female M - Australia - - 0 - - 3 Johan den Dunnen
+/. 5 c.637C>T pathogenic (recessive) r.(?) p.(Arg213Trp) Parent #1 g.64137701G>A - - - ZC4H2_000007 - PubMed: Hirata 2013 - - Germline - - - 0 - DNA SEQ - - WRWF Family 4-F PubMed: Hirata 2013 heterozygous female F - Australia - - 0 - - 1 Johan den Dunnen
+/. 5 c.637C>T pathogenic (recessive) r.(?) p.(Arg213Trp) Parent #1 g.64137701G>A - - - ZC4H2_000007 - PubMed: Hirata 2013 - - Germline - - - 0 - DNA SEQ - - WRWF Family 5-F PubMed: Hirata 2013 heterozygous females F - France - - 0 - - 2 Johan den Dunnen
+/. - c.650A>G pathogenic (recessive) r.(?) p.(Lys217Arg) Unknown g.64137688T>C - - - ZC4H2_000012 - Frints 2019, submitted - - Germline - - - 0 - DNA SEQ-NG - - WRWF Fam9 Frints 2019, submitted family, 4 affected (4M), 5 heterozygous carrier female, 2 mildly affected F;M - - - - 0 - - 6 Vera Kalscheuer
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