All transcript variants in 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.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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_1i c.-56_(53+1_54-1)del pathogenic (recessive) r.0? p.0? g.(?_64186618)_(64267316_?)del - - - ZC4H2_000011 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
+/. _1_1i c.-56_(53+1_54-1)del pathogenic (recessive) r.0? p.0? g.(_64166588)_(64361318_?)del - - - ZC4H2_000011 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
+/. _1_1i c.-56_(53+1_54-1)del pathogenic (recessive) r.0? p.0? g.(?_64192739)_(64528227_?)del - - - ZC4H2_000011 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
+/. _1_1i c.-56_(53+1_54-1)del pathogenic (recessive) r.0? p.0? g.(?_64170814)_(64414573_?)del - - - ZC4H2_000011 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
+/. _1_1i c.-56_(53+1_54-1)del pathogenic (recessive) r.0? p.0? g.(?_64170839)_(64414573_?)del - - - ZC4H2_000011 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
+/. _1_1i_ c.-156_(53+1_?)inv pathogenic (recessive) r.0 p.0 g.(64097483_64193984)_(150240223_150307546)inv - de novo X inversion - ZC4H2_000009 - PubMed: Hirata 2013 - - De novo - - - 0 - Johan den Dunnen
+/. _1_5_ c.0 pathogenic (recessive) r.0 p.0 g.(63500000_63666909)_(64493512_64500000)del - del 63,666,909–64,493,512 - ZC4H2_000010 - PubMed: Hirata 2013 - - Unknown - - - 0 - Johan den Dunnen
+/. _1_5_ c.0 pathogenic (recessive) r.0 p.0 g.(63900000_64049596)_(64370757_64400000)del - del 64,049,596–64,370,757 - ZC4H2_000010 - PubMed: Hirata 2013 - - Unknown - - - 0 - Johan den Dunnen
+/. - c.67C>T pathogenic (recessive) r.(?) p.(Gln23*) g.64141855G>A - - - ZC4H2_000023 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
+?/. - c.161T>C likely pathogenic r.(?) p.(Leu54Pro) g.64141761A>G - - - ZC4H2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 c.187G>C pathogenic (recessive) r.(?) p.(Val63Leu) g.64141735C>G - ZC4H2 V63L - ZC4H2_000008 - PubMed: Hirata 2013, PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.199C>T pathogenic r.(?) p.(Arg67*) g.64141723G>A - - - ZC4H2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.199C>T pathogenic (recessive) r.(?) p.(Arg67*) g.64141723G>A - - - ZC4H2_000006 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
+/. - c.210C>A pathogenic r.(?) p.(His70Gln) g.64141712G>T g.64921832G>T - - ZC4H2_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
+/. - c.210C>A pathogenic r.(?) p.(His70Gln) g.64141712G>T g.64921832G>T - - ZC4H2_000001 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - 0 - Johan den Dunnen
?/. - c.223G>A VUS r.(?) p.(Val75Met) g.64141699C>T - ZC4H2(NM_001178032.2):c.154G>A (p.V52M) - ZC4H2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.223G>A likely benign r.(?) p.(Val75Met) g.64141699C>T - ZC4H2(NM_001178032.2):c.154G>A (p.V52M) - ZC4H2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. - c.225+2T>C pathogenic (recessive) r.spl p.? g.64141695A>G - - - ZC4H2_000022 - Frints 2019, submitted - - De novo - - - 0 skewed X-inactivation Vera Kalscheuer
+/. - c.226-2A>G pathogenic r.spl? p.? g.64140135T>C - - - ZC4H2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.226-1G>T pathogenic (recessive) r.spl p.? g.64140134C>A - - - ZC4H2_000021 - Frints 2019, submitted - - De novo - - - 0 skewed X-inactivation Vera Kalscheuer
+/. - c.243_246del pathogenic (recessive) r.(?) p.(Lys81Asnfs*6) g.64140113_64140116del - - - ZC4H2_000020 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
+/. - c.275_276del pathogenic (recessive) r.(?) p.(Glu92Valfs*7) g.64140083_64140084del - - - ZC4H2_000004 - Frints 2019, submitted - - Germline - - - 0 random X-inactivation Vera Kalscheuer
?/. - c.374A>G VUS r.(?) p.(Glu125Gly) g.64139985T>C - ZC4H2(NM_001178032.2):c.305A>G (p.(Glu102Gly)) - ZC4H2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.426G>A pathogenic (recessive) r.(?) p.(Trp142*) g.64139057C>T - - - ZC4H2_000019 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
+/. - c.451del pathogenic (recessive) r.(?) p.(Ile151Serfs*36) g.64139032del - - - ZC4H2_000018 - Frints 2019, submitted - - De novo - - - 0 skewed X-inactivation Vera Kalscheuer
?/. - c.547C>A VUS r.(?) p.(Pro183Thr) g.64138936G>T - - - ZC4H2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. - c.592C>T pathogenic r.(?) p.(Arg198Trp) g.64137746G>A - ZC4H2(NM_001178032.3):c.523C>T (p.R175W) - ZC4H2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. - c.592C>T likely pathogenic r.(?) p.(Arg198Trp) g.64137746G>A - ZC4H2(NM_001178032.3):c.523C>T (p.R175W) - ZC4H2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. - c.593G>A likely pathogenic r.(?) p.(Arg198Gln) g.64137745C>T - - - ZC4H2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.593G>A pathogenic (recessive) r.(?) p.(Arg198Gln) g.64137745C>T - - - ZC4H2_000003 - Frints 2019, submitted - - Germline - - - 0 - Vera Kalscheuer
+/. - c.593G>A pathogenic (recessive) r.(?) p.(Arg198Gln) g.64137745C>T - - - ZC4H2_000003 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
+/. 5 c.593G>A pathogenic (recessive) r.(?) p.(Arg198Gln) g.64137745C>T - - - ZC4H2_000003 - PubMed: Hirata 2013 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.593G>A pathogenic (recessive) r.(?) p.(Arg198Gln) g.64137745C>T - - - ZC4H2_000003 - PubMed: Hirata 2013 - - Germline - - - 0 - Johan den Dunnen
+?/. - c.598G>A likely pathogenic r.(?) p.(Ala200Thr) g.64137740C>T - - - ZC4H2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL
+/. - c.598G>A pathogenic (recessive) r.(?) p.(Ala200Thr) g.64137740C>T - - - ZC4H2_000002 - Frints 2019, submitted - - Germline - - - 0 - Vera Kalscheuer
+/. - c.599C>T pathogenic (recessive) r.(?) p.(Ala200Val) g.64137739G>A - - - ZC4H2_000017 - Frints 2019, submitted - - Germline - - - 0 - Vera Kalscheuer
+/. - c.601C>T pathogenic (recessive) r.(?) p.(Pro201Ser) g.64137737G>A - - - ZC4H2_000016 - Frints 2019, submitted - - Germline - - - 0 - Vera Kalscheuer
+/. 5 c.601C>T pathogenic (recessive) r.(?) p.(Pro201Ser) g.64137737G>A - - - ZC4H2_000016 - PubMed: Hirata 2013 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.601C>T pathogenic (recessive) r.(?) p.(Pro201Ser) g.64137737G>A - - - ZC4H2_000016 - PubMed: Hirata 2013 - - Germline - - - 0 - Johan den Dunnen
+/. - c.602C>A pathogenic (recessive) r.(?) p.(Pro201His) g.64137736G>T - - - ZC4H2_000015 - Frints 2019, submitted - - Germline - - - 0 - Vera Kalscheuer
+/. - c.607T>A pathogenic (recessive) r.(?) p.(Cys203Ser) g.64137731A>T - - - ZC4H2_000014 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
+/. - c.617G>T pathogenic (recessive) r.(?) p.(Cys206Phe) g.64137721C>A - - - ZC4H2_000013 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
?/. 5 c.637C>T VUS r.(?) p.(Arg213Trp) g.64137701G>A - R213W - ZC4H2_000007 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - 0 - Lucy Raymond
+/. 5 c.637C>T pathogenic r.(?) p.(Arg213Trp) g.64137701G>A - ZC4H2 R190W - ZC4H2_000007 - PubMed: Hirata 2013, PubMed: Hu 2016 - - Germline yes - - 0 - Johan den Dunnen
+/. - c.637C>T pathogenic (recessive) r.(?) p.(Arg213Trp) g.64137701G>A - - - ZC4H2_000007 - Frints 2019, submitted - - De novo - - - 0 - Vera Kalscheuer
+/. 5 c.637C>T pathogenic (recessive) r.(?) p.(Arg213Trp) g.64137701G>A - - - ZC4H2_000007 - PubMed: Hirata 2013 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.637C>T pathogenic (recessive) r.(?) p.(Arg213Trp) g.64137701G>A - - - ZC4H2_000007 - PubMed: Hirata 2013 - - Germline - - - 0 - Johan den Dunnen
+/. 5 c.637C>T pathogenic (recessive) r.(?) p.(Arg213Trp) g.64137701G>A - - - ZC4H2_000007 - PubMed: Hirata 2013 - - Germline - - - 0 - Johan den Dunnen
+/. - c.650A>G pathogenic (recessive) r.(?) p.(Lys217Arg) g.64137688T>C - - - ZC4H2_000012 - Frints 2019, submitted - - Germline - - - 0 - Vera Kalscheuer
Legend