Full data view for gene ZFPM2

Information The variants shown are described using the NM_012082.3 transcript reference sequence.

110 entries on 2 pages. Showing entries 1 - 100.
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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.40+1G>A r.spl? p.? Unknown - VUS g.106331210G>A - - - ZFPM2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.41-4C>A r.spl? p.? Unknown - VUS g.106431368C>A g.105419140C>A ZFPM2(NM_012082.3):c.41-4C>A (p.?) - ZFPM2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.44C>T r.(?) p.(Pro15Leu) Unknown - VUS g.106431375C>T g.105419147C>T - - ZFPM2_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.66T>A r.(?) p.(Asp22Glu) Unknown - likely benign g.106431397T>A g.105419169T>A ZFPM2(NM_012082.3):c.66T>A (p.D22E) - ZFPM2_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.89A>G r.(?) p.(Glu30Gly) Parent #1 - likely pathogenic g.106431420A>G g.105419192A>G A89G - ZFPM2_000013 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ - - DSD Pat249 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
+?/. - c.89A>G r.(?) p.(Glu30Gly) Parent #1 - likely pathogenic g.106431420A>G g.105419192A>G - 46,XY ZFPM2_000013 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat22 PubMed: Eggers 2016 - rF - - - - - - - 1 Johan den Dunnen
-?/. - c.89A>G r.(?) p.(Glu30Gly) Unknown - likely benign g.106431420A>G g.105419192A>G ZFPM2(NM_012082.3):c.89A>G (p.(Glu30Gly)), ZFPM2(NM_012082.4):c.89A>G (p.E30G) - ZFPM2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.89A>G r.(?) p.(Glu30Gly) Unknown - benign g.106431420A>G g.105419192A>G ZFPM2(NM_012082.3):c.89A>G (p.(Glu30Gly)), ZFPM2(NM_012082.4):c.89A>G (p.E30G) - ZFPM2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.89A>G r.(?) p.(Glu30Gly) Unknown - likely benign g.106431420A>G - ZFPM2(NM_012082.3):c.89A>G (p.(Glu30Gly)), ZFPM2(NM_012082.4):c.89A>G (p.E30G) - ZFPM2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.89A>G r.(?) p.(Glu30Gly) Unknown - likely benign g.106431420A>G - ZFPM2(NM_012082.3):c.89A>G (p.(Glu30Gly)), ZFPM2(NM_012082.4):c.89A>G (p.E30G) - ZFPM2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.121C>G r.(?) p.(Pro41Ala) Unknown - likely benign g.106431452C>G g.105419224C>G ZFPM2(NM_012082.3):c.121C>G (p.(Pro41Ala)) - ZFPM2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.121C>G r.(?) p.(Pro41Ala) Unknown - likely benign g.106431452C>G g.105419224C>G ZFPM2(NM_012082.3):c.121C>G (p.(Pro41Ala)) - ZFPM2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.125T>C r.(?) p.(Leu42Ser) Unknown - VUS g.106431456T>C g.105419228T>C ZFPM2(NM_012082.3):c.125T>C (p.L42S) - ZFPM2_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.130G>A r.(?) p.(Glu44Lys) Unknown - likely benign g.106431461G>A g.105419233G>A ZFPM2(NM_012082.4):c.130G>A (p.E44K) - ZFPM2_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.192T>G r.(?) p.(Cys64Trp) Maternal (confirmed) ACMG likely pathogenic (dominant) g.106431523T>G g.105419295T>G - 46,XY ZFPM2_000059 ACMG PM1, PM2, PP3, PP4 PubMed: Marinakis 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ? 9045 PubMed: Marinakis 2021 - rF - Greece - - - - - 1 Jan Traeger-Synodinos
-?/. - c.199+19A>G r.(=) p.(=) Unknown - likely benign g.106431549A>G - ZFPM2(NM_012082.4):c.199+19A>G - ZFPM2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.286G>T r.(?) p.(Asp96Tyr) Unknown - likely benign g.106456594G>T - ZFPM2(NM_012082.3):c.286G>T (p.(Asp96Tyr)) - ZFPM2_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.292G>A r.(?) p.(Asp98Asn) Unknown - likely benign g.106456600G>A g.105444372G>A ZFPM2(NM_012082.3):c.292G>A (p.D98N, p.(Asp98Asn)), ZFPM2(NM_012082.4):c.292G>A (p.D98N) - ZFPM2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.292G>A r.(?) p.(Asp98Asn) Parent #1 - likely pathogenic g.106456600G>A g.105444372G>A - 46,XY ZFPM2_000003 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat80 PubMed: Eggers 2016 - rF - - - - - - - 1 Johan den Dunnen
+?/. - c.292G>A r.(?) p.(Asp98Asn) Parent #1 - likely pathogenic g.106456600G>A g.105444372G>A - 46,XY ZFPM2_000003 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat99 PubMed: Eggers 2016 - M - - - - - - - 1 Johan den Dunnen
-?/. - c.292G>A r.(?) p.(Asp98Asn) Unknown - likely benign g.106456600G>A g.105444372G>A ZFPM2(NM_012082.3):c.292G>A (p.D98N, p.(Asp98Asn)), ZFPM2(NM_012082.4):c.292G>A (p.D98N) - ZFPM2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.292G>A r.(?) p.(Asp98Asn) Unknown - VUS g.106456600G>A g.105444372G>A ZFPM2(NM_012082.3):c.292G>A (p.D98N, p.(Asp98Asn)), ZFPM2(NM_012082.4):c.292G>A (p.D98N) - ZFPM2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.292G>A r.(?) p.(Asp98Asn) Parent #1 - benign g.106456600G>A g.105444372G>A - - ZFPM2_000003 8 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs202217256 Germline - 8/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 8 Mohammed Faruq
-/. - c.302-13C>T r.(=) p.(=) Unknown - benign g.106573578C>T g.105561350C>T ZFPM2(NM_012082.4):c.302-13C>T - ZFPM2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.349C>T r.(?) p.(Arg117Ter) Unknown - VUS g.106573638C>T g.105561410C>T ZFPM2(NM_012082.4):c.349C>T (p.R117*) - ZFPM2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.349C>T r.(?) p.(Arg117Ter) Unknown - likely pathogenic g.106573638C>T - ZFPM2(NM_012082.4):c.349C>T (p.R117*) - ZFPM2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.407A>G r.(?) p.(Asn136Ser) Unknown - VUS g.106573696A>G g.105561468A>G ZFPM2(NM_012082.3):c.407A>G (p.N136S) - ZFPM2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.516dup r.(?) p.(Ile173HisfsTer19) Unknown - VUS g.106646569dup g.105634341dup ZFPM2(NM_012082.3):c.515_516insC (p.?) - ZFPM2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.533-1G>A r.spl? p.? Unknown - likely pathogenic g.106800945G>A - - - ZFPM2_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.629G>C r.(?) p.(Ser210Thr) Maternal (confirmed) - likely pathogenic g.106801042G>C g.105788814G>C - 46,XY ZFPM2_000016 father not analysed PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat268 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.629G>C r.(?) p.(Ser210Thr) Unknown - likely benign g.106801042G>C g.105788814G>C ZFPM2(NM_001362837.1):c.233G>C (p.S78T), ZFPM2(NM_012082.4):c.629G>C (p.S210T) - ZFPM2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.629G>C r.(?) p.(Ser210Thr) Unknown - likely benign g.106801042G>C - ZFPM2(NM_001362837.1):c.233G>C (p.S78T), ZFPM2(NM_012082.4):c.629G>C (p.S210T) - ZFPM2_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.679A>G r.(?) p.(Ile227Val) Unknown - likely benign g.106801092A>G g.105788864A>G ZFPM2(NM_012082.3):c.679A>G (p.(Ile227Val)) - ZFPM2_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.739+2dup r.spl? p.? Unknown - VUS g.106801154dup g.105788926dup ZFPM2(NM_012082.4):c.739+2dupT - ZFPM2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.778C>T r.(?) p.(Arg260Trp) Unknown - VUS g.106810990C>T - ZFPM2(NM_012082.4):c.778C>T (p.R260W) - ZFPM2_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.787C>T r.(?) p.(Arg263Trp) Unknown - VUS g.106810999C>T g.105798771C>T - - ZFPM2_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.813C>T r.(?) p.(Tyr271=) Unknown - likely benign g.106811025C>T g.105798797C>T - - ZFPM2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.959A>G r.(?) p.(His320Arg) Unknown - VUS g.106811171A>G - ZFPM2(NM_001362837.1):c.563A>G (p.H188R) - ZFPM2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.965-4_965-3del r.spl? p.? Unknown - likely benign g.106813271_106813272del g.105801043_105801044del ZFPM2(NM_012082.4):c.965-4_965-3del - ZFPM2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1003C>G r.(?) p.(Leu335Val) Parent #1 - likely pathogenic g.106813313C>G g.105801085C>G - 46,XY ZFPM2_000017 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat245 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
?/. - c.1047C>A r.(?) p.(Asn349Lys) Unknown - VUS g.106813357C>A - ZFPM2(NM_012082.3):c.1047C>A (p.(Asn349Lys)) - ZFPM2_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1093T>C r.(?) p.(Cys365Arg) Unknown - VUS g.106813403T>C g.105801175T>C ZFPM2(NM_012082.3):c.1093T>C (p.C365R, p.(Cys365Arg)) - ZFPM2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1093T>C r.(?) p.(Cys365Arg) Unknown - VUS g.106813403T>C - ZFPM2(NM_012082.3):c.1093T>C (p.C365R, p.(Cys365Arg)) - ZFPM2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1155T>C r.(?) p.(His385=) Unknown - likely benign g.106813465T>C - ZFPM2(NM_001362837.1):c.759T>C (p.H253=) - ZFPM2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1255G>A r.(?) p.(Glu419Lys) Parent #2 - likely pathogenic g.106813565G>A g.105801337G>A - 46,XY ZFPM2_000018 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat22 PubMed: Eggers 2016 - rF - - - - - - - 1 Johan den Dunnen
?/. - c.1276G>A r.(?) p.(Ala426Thr) Unknown - VUS g.106813586G>A g.105801358G>A ZFPM2(NM_012082.4):c.1276G>A (p.A426T) - ZFPM2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1276G>A r.(?) p.(Ala426Thr) Unknown - likely benign g.106813586G>A - ZFPM2(NM_012082.4):c.1276G>A (p.A426T) - ZFPM2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1362A>G r.(=) p.(=) Parent #1 - benign g.106813672A>G g.105801444A>G - - ZFPM2_000048 120 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs920628 Germline - 120/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 120 Mohammed Faruq
-/. - c.1362A>G r.(=) p.(=) Both (homozygous) - benign g.106813672A>G g.105801444A>G - - ZFPM2_000048 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs920628 Germline - 1/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.1450G>A r.(?) p.(Val484Ile) Unknown - likely benign g.106813760G>A - ZFPM2(NM_012082.3):c.1450G>A (p.(Val484Ile)) - ZFPM2_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1571T>G r.(?) p.(Val524Gly) Unknown - VUS g.106813881T>G g.105801653T>G - - ZFPM2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1578G>T r.(?) p.(Arg526=) Unknown - likely benign g.106813888G>T g.105801660G>T ZFPM2(NM_012082.3):c.1578G>T (p.R526=), ZFPM2(NM_012082.4):c.1578G>T (p.R526=) - ZFPM2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1578G>T r.(?) p.(Arg526=) Unknown - likely benign g.106813888G>T - ZFPM2(NM_012082.3):c.1578G>T (p.R526=), ZFPM2(NM_012082.4):c.1578G>T (p.R526=) - ZFPM2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1595G>A r.(?) p.(Ser532Asn) Unknown - VUS g.106813905G>A - ZFPM2(NM_012082.4):c.1595G>A (p.(Ser532Asn)) - ZFPM2_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1612G>A r.(?) p.(Val538Ile) Parent #2 - VUS g.106813922G>A g.105801694G>A G1612A - ZFPM2_000014 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ - - DSD Pat249 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
-?/. - c.1612G>A r.(?) p.(Val538Ile) Unknown - likely benign g.106813922G>A g.105801694G>A ZFPM2(NM_012082.3):c.1612G>A (p.(Val538Ile)) - ZFPM2_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1612G>C r.(?) p.(Val538Leu) Unknown - likely benign g.106813922G>C - ZFPM2(NM_012082.3):c.1612G>C (p.(Val538Leu)) - ZFPM2_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1632G>A r.(?) p.(Met544Ile) Unknown - VUS g.106813942G>A g.105801714G>A ZFPM2(NM_001362837.1):c.1236G>A (p.M412I), ZFPM2(NM_012082.3):c.1632G>A (p.M544I), ZFPM2(NM_012082.4):c.1632G>A (p.(Met544Ile), p.M544I) - ZFPM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1632G>A r.(?) p.(Met544Ile) Parent #1 - likely pathogenic g.106813942G>A g.105801714G>A - 46,XY ZFPM2_000007 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat6 PubMed: Eggers 2016 - rF - - - - - - - 1 Johan den Dunnen
-?/. - c.1632G>A r.(?) p.(Met544Ile) Unknown - likely benign g.106813942G>A g.105801714G>A ZFPM2(NM_001362837.1):c.1236G>A (p.M412I), ZFPM2(NM_012082.3):c.1632G>A (p.M544I), ZFPM2(NM_012082.4):c.1632G>A (p.(Met544Ile), p.M544I) - ZFPM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1632G>A r.(?) p.(Met544Ile) Unknown - likely benign g.106813942G>A - ZFPM2(NM_001362837.1):c.1236G>A (p.M412I), ZFPM2(NM_012082.3):c.1632G>A (p.M544I), ZFPM2(NM_012082.4):c.1632G>A (p.(Met544Ile), p.M544I) - ZFPM2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1661A>T r.(?) p.(Asn554Ile) Unknown - VUS g.106813971A>T - ZFPM2(NM_001362837.1):c.1265A>T (p.N422I) - ZFPM2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1666A>T r.(?) p.(Thr556Ser) Unknown - VUS g.106813976A>T - ZFPM2(NM_012082.4):c.1666A>T (p.T556S) - ZFPM2_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1681G>T r.(?) p.(Asp561Tyr) Unknown - VUS g.106813991G>T g.105801763G>T ZFPM2(NM_012082.3):c.1681G>T (p.D561Y) - ZFPM2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1770G>A r.(?) p.(=) Unknown - likely benign g.106814080G>A - ZFPM2(NM_012082.4):c.1770G>A (p.(Lys590=)) - ZFPM2_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1770G>C r.(?) p.(Lys590Asn) Parent #1 - likely pathogenic g.106814080G>C g.105801852G>C - 46,XY ZFPM2_000019 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat250 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
-/. - c.1776T>C r.(=) p.(=) Parent #1 - benign g.106814086T>C g.105801858T>C - - ZFPM2_000049 120 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16873732 Germline - 120/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 120 Mohammed Faruq
-/. - c.1776T>C r.(=) p.(=) Both (homozygous) - benign g.106814086T>C g.105801858T>C - - ZFPM2_000049 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs16873732 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.1776T>C r.(?) p.(=) Unknown - likely benign g.106814086T>C - ZFPM2(NM_012082.4):c.1776T>C (p.(Pro592=)) - ZFPM2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1818_1820del r.(?) p.(Leu607del) Paternal (inferred) - pathogenic g.106814128_106814130del g.105801900_105801902del NM_012082:c.1816_1818del 46,XY ZFPM2_000015 father not analysed PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat182 PubMed: Eggers 2016 - M - - - - - - - 1 Johan den Dunnen
?/. - c.1835A>G r.(?) p.(His612Arg) Unknown - VUS g.106814145A>G - - - ZFPM2_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1871C>G r.(?) p.(Ser624Cys) Unknown - likely benign g.106814181C>G g.105801953C>G - - ZFPM2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1912A>G r.(?) p.(Asn638Asp) Unknown - likely benign g.106814222A>G - ZFPM2(NM_012082.3):c.1912A>G (p.(Asn638Asp)) - ZFPM2_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1969A>G r.(?) p.(Ser657Gly) Unknown - likely benign g.106814279A>G g.105802051A>G ZFPM2(NM_012082.4):c.1969A>G (p.(Ser657Gly), p.S657G) - ZFPM2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1969A>G r.(?) p.(Ser657Gly) Unknown - benign g.106814279A>G - ZFPM2(NM_012082.4):c.1969A>G (p.(Ser657Gly), p.S657G) - ZFPM2_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2107A>C r.(?) p.(Met703Leu) Unknown - VUS g.106814417A>C g.105802189A>C ZFPM2(NM_012082.3):c.2107A>C (p.M703L), ZFPM2(NM_012082.4):c.2107A>C (p.M703L) - ZFPM2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2107A>C r.(?) p.(Met703Leu) Parent #1 - VUS g.106814417A>C g.105802189A>C - 46,XY ZFPM2_000012 - PubMed: Eggers 2016 - - Germline - - - - - DNA SEQ-NG - 1031 gene panel DSD Pat137 PubMed: Eggers 2016 - - - - - - - - - 1 Johan den Dunnen
?/. - c.2107A>C r.(?) p.(Met703Leu) Unknown - VUS g.106814417A>C - ZFPM2(NM_012082.3):c.2107A>C (p.M703L), ZFPM2(NM_012082.4):c.2107A>C (p.M703L) - ZFPM2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2213G>A r.(?) p.(Arg738His) Unknown - likely benign g.106814523G>A - ZFPM2(NM_012082.3):c.2213G>A (p.(Arg738His)) - ZFPM2_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2287G>A r.(?) p.(Val763Ile) Unknown - VUS g.106814597G>A g.105802369G>A ZFPM2(NM_001362837.1):c.1891G>A (p.V631I), ZFPM2(NM_012082.3):c.2287G>A (p.V763I, p.(Val763Ile)), ZFPM2(NM_012082.4):c.2287G>A (p.V763I) - ZFPM2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2287G>A r.(?) p.(Val763Ile) Unknown - likely benign g.106814597G>A g.105802369G>A ZFPM2(NM_001362837.1):c.1891G>A (p.V631I), ZFPM2(NM_012082.3):c.2287G>A (p.V763I, p.(Val763Ile)), ZFPM2(NM_012082.4):c.2287G>A (p.V763I) - ZFPM2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2287G>A r.(?) p.(Val763Ile) Unknown - likely benign g.106814597G>A g.105802369G>A ZFPM2(NM_001362837.1):c.1891G>A (p.V631I), ZFPM2(NM_012082.3):c.2287G>A (p.V763I, p.(Val763Ile)), ZFPM2(NM_012082.4):c.2287G>A (p.V763I) - ZFPM2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2287G>A r.(?) p.(Val763Ile) Unknown - benign g.106814597G>A - ZFPM2(NM_001362837.1):c.1891G>A (p.V631I), ZFPM2(NM_012082.3):c.2287G>A (p.V763I, p.(Val763Ile)), ZFPM2(NM_012082.4):c.2287G>A (p.V763I) - ZFPM2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2346G>C r.(?) p.(Glu782Asp) Unknown - benign g.106814656G>C g.105802428G>C ZFPM2(NM_012082.4):c.2346G>C (p.E782D) - ZFPM2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2385C>G r.(?) p.(=) Unknown - likely benign g.106814695C>G - ZFPM2(NM_012082.4):c.2385C>G (p.(Val795=)) - ZFPM2_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2430A>T r.(?) p.(=) Unknown - likely benign g.106814740A>T - ZFPM2(NM_012082.4):c.2430A>T (p.P810=) - ZFPM2_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2501A>G r.(?) p.(Lys834Arg) Unknown - VUS g.106814811A>G - ZFPM2(NM_001362837.1):c.2105A>G (p.K702R) - ZFPM2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2525G>A r.(?) p.(Arg842Gln) Unknown - VUS g.106814835G>A - ZFPM2(NM_012082.4):c.2525G>A (p.R842Q) - ZFPM2_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2633C>T r.(?) p.(Pro878Leu) Unknown - VUS g.106814943C>T g.105802715C>T ZFPM2(NM_012082.3):c.2633C>T (p.P878L) - ZFPM2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2673C>G r.(?) p.(Asp891Glu) Unknown - likely benign g.106814983C>G g.105802755C>G - - ZFPM2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2759G>A r.(?) p.(Gly920Glu) Unknown - VUS g.106815069G>A - ZFPM2(NM_001362837.1):c.2363G>A (p.G788E) - ZFPM2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2783A>G r.(?) p.(Asn928Ser) Unknown - VUS g.106815093A>G - ZFPM2(NM_001362837.1):c.2387A>G (p.N796S) - ZFPM2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2914A>G r.(?) p.(Ile972Val) Unknown - VUS g.106815224A>G g.105802996A>G - - ZFPM2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2935G>A r.(?) p.(Asp979Asn) Unknown - VUS g.106815245G>A - ZFPM2(NM_012082.3):c.2935G>A (p.(Asp979Asn)), ZFPM2(NM_012082.4):c.2935G>A (p.D979N) - ZFPM2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2935G>A r.(?) p.(Asp979Asn) Unknown - VUS g.106815245G>A - ZFPM2(NM_012082.3):c.2935G>A (p.(Asp979Asn)), ZFPM2(NM_012082.4):c.2935G>A (p.D979N) - ZFPM2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2969G>A r.(?) p.(Ser990Asn) Unknown - likely benign g.106815279G>A g.105803051G>A - - ZFPM2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2976T>C r.(?) p.(Tyr992=) Unknown - likely benign g.106815286T>C g.105803058T>C ZFPM2(NM_012082.4):c.2976T>C (p.(Tyr992=)) - ZFPM2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2976T>C r.(=) p.(=) Parent #1 - benign g.106815286T>C g.105803058T>C - - ZFPM2_000038 120 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1442320 Germline - 120/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 120 Mohammed Faruq
-/. - c.2976T>C r.(=) p.(=) Both (homozygous) - benign g.106815286T>C g.105803058T>C - - ZFPM2_000038 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs1442320 Germline - 1/2791 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.2976T>C r.(?) p.(Tyr992=) Unknown - likely benign g.106815286T>C - ZFPM2(NM_012082.4):c.2976T>C (p.(Tyr992=)) - ZFPM2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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