Full data view for gene EBP

Information The variants shown are described using the NM_006579.2 transcript reference sequence.

81 entries on 1 page. Showing entries 1 - 81.
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Effect     

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AscendingDNA change (cDNA)     

RNA change     

Protein     

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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     

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?/. - c.-5900C>T r.(?) p.(=) Unknown - VUS g.48374469C>T - PORCN(NM_001282167.1):c.862C>T (p.R288W), PORCN(NM_203475.1):c.1108C>T (p.(Arg370Trp)) - EBP_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-5900C>T r.(?) p.(=) Unknown - likely benign g.48374469C>T - PORCN(NM_001282167.1):c.862C>T (p.R288W), PORCN(NM_203475.1):c.1108C>T (p.(Arg370Trp)) - EBP_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4794T>C r.(?) p.(=) Unknown - VUS g.48375575T>C - PORCN(NM_203475.3):c.1178T>C (p.(Leu393Pro)) - EBP_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4737A>T r.(?) p.(=) Unknown - VUS g.48375632A>T g.48517244A>T PORCN(NM_022825.2):c.1202A>T (p.(Tyr401Phe)) - PORCN_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-4731G>T r.(?) p.(=) Unknown - likely pathogenic g.48375638G>T - - - EBP_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4701C>A r.(?) p.(=) Unknown - VUS g.48375668C>A g.48517280C>A PORCN(NM_001282167.1):c.1025C>A (p.T342N) - EBP_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1597A>C r.(?) p.(=) Unknown - likely benign g.48378772A>C g.48520384A>C PORCN(NM_022825.2):c.1261A>C (p.(Met421Leu)) - EBP_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1589C>T r.(?) p.(=) Unknown - likely benign g.48378780C>T - PORCN(NM_001282167.1):c.1056C>T (p.Y352=) - EBP_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1518G>A r.(?) p.(=) Unknown - likely benign g.48378851G>A g.48520463G>A PORCN(NM_022825.2):c.1340G>A (p.(Arg447His)) - EBP_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-74+3G>C r.spl? p.? Unknown - likely benign g.48380298G>C g.48521910G>C EBP(NM_006579.2):c.-74+3G>C (p.(=)), EBP(NM_006579.3):c.-74+3G>C - EBP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-74+3G>C r.spl? p.? Unknown - likely benign g.48380298G>C g.48521910G>C EBP(NM_006579.2):c.-74+3G>C (p.(=)), EBP(NM_006579.3):c.-74+3G>C - EBP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-74+3G>C r.spl? p.? Unknown - likely benign g.48380298G>C - EBP(NM_006579.2):c.-74+3G>C (p.(=)), EBP(NM_006579.3):c.-74+3G>C - EBP_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 1i c.-74+103_-74+104dup r.(?) p.(=) Unknown - VUS g.48380398_48380399dup g.48522010_48522011dup -74+104_-74+105insCC - EBP_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 1i c.-74+103_-74+104dup r.(?) p.(=) Paternal (inferred) - VUS g.48380398_48380399dup g.48522010_48522011dup -74+104_-74+105insCC - EBP_000008 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 1i c.-74+104dup r.(?) p.(=) Unknown - VUS g.48380399dup g.48522011dup -74+96_-74+97insC - EBP_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-74+104dup r.(=) p.(=) Unknown - VUS g.48380399dup g.48522011dup - - EBP_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.-74+112T>G r.(?) p.(?) Unknown - benign g.48380407T>G - - - EBP_000063 - - - rs1230513151 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-61del r.(?) p.(=) Unknown - VUS g.48382099del g.48523711del - - EBP_000009 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. _1_5_ c.0 r.0 p.0 Unknown - pathogenic (dominant) g.(?_48368172)_(48387104_?)del - deletion PORCN and EBP +? - PORCN_000115 - PubMed: Patrizi 2012 - - Germline - - - - - DNA MAPH - - FDH case report PubMed: Patrizi 2012 - F - Italy white - - - - 2 Maria Paola Lombardi
-?/. - c.13G>A r.(?) p.(Ala5Thr) Unknown - likely benign g.48382172G>A g.48523784G>A EBP(NM_006579.2):c.13G>A (p.A5T) - EBP_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.15G>T r.(?) p.(=) Maternal (inferred) - VUS g.48382174G>T g.48523786G>T - - EBP_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.15G>T r.(?) p.(=) Maternal (inferred) - VUS g.48382174G>T g.48523786G>T - - EBP_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. 1 c.15G>T r.(?) p.(=) Maternal (inferred) - VUS g.48382174G>T g.48523786G>T - - EBP_000001 - personal communication - - Germline - - - - - DNA SEQ - - ? 3(III4) personal communication 3-generation family, 2 affected cousins, cousin of 4(III8) M - - - - - - - 2 Jacopo Celli
?/. 1 c.15G>T r.(?) p.(=) Maternal (inferred) - VUS g.48382174G>T g.48523786G>T - - EBP_000001 - personal communication - - Germline - - - - - DNA SEQ - - ? 4(III8) personal communication Cousin of 3(III4) M - - - - - - - 1 Jacopo Celli
-?/. - c.22T>C r.(?) p.(Leu8=) Unknown - likely benign g.48382181T>C - EBP(NM_006579.2):c.22T>C (p.L8=) - EBP_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 2 c.36del r.(?) p.(Trp12Cysfs*5) Unknown - VUS g.48382195del g.48523807del - - EBP_000031 - - - - De novo - - - - - DNA SEQ - - CPDX2 - - - F no France - 00y01m - - - 1 Fabienne Dufernez
?/. - c.38C>G r.(?) p.(Pro13Arg) Unknown - VUS g.48382197C>G - EBP(NM_006579.2):c.38C>G (p.P13R), EBP(NM_006579.3):c.38C>G (p.P13R) - EBP_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.38C>G r.(?) p.(Pro13Arg) Unknown - VUS g.48382197C>G - EBP(NM_006579.2):c.38C>G (p.P13R), EBP(NM_006579.3):c.38C>G (p.P13R) - EBP_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.108del r.(?) p.(Ser37Leufs*6) Unknown - pathogenic g.48382267del g.48523879del 108delC - EBP_000024 - - - - De novo - - - - - DNA SEQ - - CPDX2 - - diagnosis in utero F no France - - - - - 1 Fabienne Dufernez
+/. 2 c.157_172del r.(?) p.Ala53Trpfs*21 Unknown - pathogenic g.48382316_48382331del g.48523928_48523943del - - EBP_000004 - - - - De novo - - - - - DNA PCR, SEQ - - CPDX2 - - diagnosis in utero F no France - - - - - 1 Fabienne Dufernez
?/. - c.175G>A r.(?) p.(Gly59Arg) Unknown - VUS g.48382334G>A g.48523946G>A EBP(NM_006579.2):c.175G>A (p.(Gly59Arg)), EBP(NM_006579.3):c.175G>A (p.G59R) - EBP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.175G>A r.(?) p.(Gly59Arg) Unknown - VUS g.48382334G>A - EBP(NM_006579.2):c.175G>A (p.(Gly59Arg)), EBP(NM_006579.3):c.175G>A (p.G59R) - EBP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.177del r.(?) p.(Thr60Leufs*19) Unknown - VUS g.48382336del g.48523948del 177del - EBP_000030 - - - - Somatic - - - - - DNA SEQ - - CPDX2 - - - F no France - 02y - - - 1 Fabienne Dufernez
+/+ - c.204G>A r.(?) p.(Trp68*) Unknown - pathogenic g.48382363G>A g.48523975G>A - - EBP_000036 - - - - Germline - - - - - DNA SEQ - - CPDX2 - - diagnosis in utero - no France - - - - - 1 Fabienne Dufernez
?/. - c.237C>G r.(?) p.(Ile79Met) Unknown - VUS g.48382396C>G - EBP(NM_006579.2):c.237C>G (p.I79M), EBP(NM_006579.3):c.237C>G (p.(Ile79Met)) - EBP_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.237C>G r.(?) p.(Ile79Met) Unknown - VUS g.48382396C>G - EBP(NM_006579.2):c.237C>G (p.I79M), EBP(NM_006579.3):c.237C>G (p.(Ile79Met)) - EBP_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.238G>A r.(?) p.(Glu80Lys) Unknown - pathogenic g.48382397G>A g.48524009G>A - - EBP_000023 - - - - De novo - - - - - DNA SEQ - - CPDX2 - - dead 2y F no France - - - - - 1 Fabienne Dufernez
+/+ 2 c.238G>A r.(?) p.(Glu80Lys) Unknown - likely pathogenic g.48382397G>A g.48524009G>A - - EBP_000023 - - - - Germline - - - - - DNA SEQ - - CPDX2 - - - F no France - 00y00m01d - - - 1 Fabienne Dufernez
+/+ 2i c.301+5G>C r.spl p.? Maternal (confirmed) - pathogenic g.48382465G>C g.48524077G>C - - EBP_000005 exon skipping confirmed by minigen assay - - - Somatic - - - - - DNA PCR, SEQ - - CPDX2 - - diagnosis in utero F no France - - - - - 1 Fabienne Dufernez
+?/. - c.310T>A r.(?) p.(Tyr104Asn) Unknown - likely pathogenic g.48385385T>A - EBP(NM_006579.3):c.310T>A (p.Y104N) - EBP_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 3 c.314C>T r.(?) p.(Ala105Val) Unknown - VUS g.48385389C>T g.48527001C>T - - EBP_000027 - - - - De novo - - - - - DNA SEQ - - CPDX2 - - diagnosis in utero M no France - - - - - 1 Fabienne Dufernez
+/+ 3 c.328C>T r.(?) p.(Arg110*) Unknown - pathogenic g.48385403C>T g.48527015C>T - - EBP_000033 - - - - De novo - - - - - DNA SEQ - - CPDX2 - - diagnosis in utero F no France - - - - - 1 Fabienne Dufernez
+/+ 3 c.328C>T r.(?) p.(Arg110*) Unknown - pathogenic g.48385403C>T g.48527015C>T - - EBP_000033 - - - - De novo - - - - - DNA SEQ - - CPDX2 - - diagnosis in utero F no France - - - - - 1 Fabienne Dufernez
+/. - c.329G>A r.(?) p.(Arg110Gln) Unknown - pathogenic g.48385404G>A - - - EBP_000058 - - - rs1602090481 Unknown - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.329G>A r.(?) p.(Arg110Gln) Parent #1 - VUS g.48385404G>A g.48527016G>A - - EBP_000058 ACMG PS4mod, PM2, PP3 PubMed: Kessel 2021 VCV000807598.1 - Germline - - - - - DNA SEQ, SEQ-NG - - CTRCT CPXD00571 PubMed: Kessel 2021 family, 2 affected - - Denmark - - - - - 2 Johan den Dunnen
+/+ 3 c.331T>C r.(?) p.(Tyr111His) Unknown - likely pathogenic g.48385406T>C g.48527018T>C - - EBP_000035 - - - - Germline - - - - - DNA SEQ - - CPDX2 - - - F no France - - - - - 1 Fabienne Dufernez
+/+ 3i c.338+1G>C r.spl p.? Unknown - pathogenic g.48385414G>C g.48527026G>C - - EBP_000025 - - - - Germline - - - - - DNA SEQ - - CPDX2 - - diagnosis in utero, 38 year-old mother F no France - - - - - 1 Fabienne Dufernez
?/? 3 c.338+3_338+6del r.spl p.? Unknown - VUS g.48385416_48385419del g.48527028_48527031del - - EBP_000038 - - - - Germline/De novo (untested) - - - - - DNA SEQ - - CPDX2 - - - F no France - 10y - - - 1 Fabienne Dufernez
?/. - c.341G>T r.(?) p.(Gly114Val) Unknown - VUS g.48385545G>T g.48527157G>T EBP(NM_006579.2):c.341G>T (p.G114V, p.(Gly114Val)) - EBP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.341G>T r.(?) p.(Gly114Val) Unknown - likely benign g.48385545G>T g.48527157G>T EBP(NM_006579.2):c.341G>T (p.G114V, p.(Gly114Val)) - EBP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.349T>C r.(?) p.(Phe117Leu) Parent #1 - likely pathogenic g.48385553T>C g.48527165T>C [349T>C;356T>G] - EBP_000021 - - - - De novo - - - - - DNA SEQ - - CPDX2 - - - - no France - 17y - - - 1 Fabienne Dufernez
?/. 4 c.356T>G r.(?) p.(Val119Gly) Parent #1 - VUS g.48385560T>G g.48527172T>G [349T>C;356T>G] - EBP_000039 - - - - De novo - - - - - DNA SEQ - - CPDX2 - - - - no France - 17y - - - 1 Fabienne Dufernez
+/+ 4 c.364G>A r.(?) p.(Glu122Lys) Unknown - likely pathogenic g.48385568G>A g.48527180G>A - - EBP_000034 - - - - De novo - - - - - DNA SEQ - - CPDX2 - - - F no France - 21y - - - 1 Fabienne Dufernez
-?/. - c.382C>T r.(?) p.(Leu128=) Unknown - likely benign g.48385586C>T g.48527198C>T EBP(NM_006579.2):c.382C>T (p.L128=), EBP(NM_006579.3):c.382C>T (p.(Leu128=)) - EBP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.382C>T r.(?) p.(Leu128=) Unknown - likely benign g.48385586C>T - EBP(NM_006579.2):c.382C>T (p.L128=), EBP(NM_006579.3):c.382C>T (p.(Leu128=)) - EBP_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.387G>A r.(?) p.(Trp129*) Unknown - pathogenic g.48385591G>A g.48527203G>A - - EBP_000019 - - - - De novo - - - - - DNA SEQ - - CPDX2 - - - F no France - 21y - - - 1 Fabienne Dufernez
+?/+? 4 c.401T>G r.(?) p.Leu134Arg Unknown - likely pathogenic g.48385605T>G g.48527217T>G - - EBP_000003 - - - - De novo - - - - - DNA PCR, SEQ - - CPDX2 - - diagnosis in utero F no France - - - - - 1 Fabienne Dufernez
+/+ 4 c.405G>A r.(?) p.(Trp135*) Unknown - pathogenic g.48385609G>A g.48527221G>A - - EBP_000022 - - - - De novo - - - - - DNA SEQ - - CPDX2 - - diagnosis in utero F no France - 00y00m00d - - - 1 Fabienne Dufernez
+/+ 4 c.439C>T r.(?) p.(Arg147Cys) Unknown - likely pathogenic g.48385643C>T g.48527255C>T - - EBP_000026 - - - - De novo - - - - - DNA SEQ - - CPDX2 - - - F no France - 04y - - - 1 Fabienne Dufernez
+/+ 4 c.439del r.(?) p.(Arg147Alafs*21) Unknown - pathogenic g.48385643del g.48527255del 439delC - EBP_000020 - - - - De novo - - - - - DNA SEQ - - CPDX2 - - - F no France - 00y01m - - - 1 Fabienne Dufernez
+/. - c.440G>A r.(?) p.(Arg147His) Unknown - pathogenic g.48385644G>A g.48527256G>A - - EBP_000018 - - - - Germline/De novo (untested) - - - - - protein arraySEQ - - CPDX2 - - - F no France - 00y09m - - - 1 Fabienne Dufernez
+/+ 4 c.440G>A r.(?) p.(Arg147His) Unknown - likely pathogenic g.48385644G>A g.48527256G>A - - EBP_000018 - - - - Unknown - - - - - DNA SEQ - - CPDX2 - - - F no France - 00y09m - - - 1 Fabienne Dufernez
+/+ 4 c.440G>A r.(?) p.(Arg147His) Unknown - pathogenic g.48385644G>A g.48527256G>A - - EBP_000018 - - - - De novo - - - - - DNA SEQ - - CPDX2 - - - F no France - 00y01m - - - 1 Fabienne Dufernez
+/+ 4 c.440G>A r.(?) p.(Arg147His) Unknown - pathogenic g.48385644G>A g.48527256G>A - - EBP_000018 - - - - De novo - - - - - DNA SEQ - - CPDX2 - - - F no France - 20y - - - 1 Fabienne Dufernez
?/? 4 c.451C>T r.(?) p.(Gln151*) Unknown - VUS g.48385655C>T g.48527267C>T - - EBP_000028 - - - - De novo - - - - - DNA SEQ - - CPDX2 - - - F no France - 15y - - - 1 Fabienne Dufernez
?/. - c.467T>G r.(?) p.(Val156Gly) Unknown - VUS g.48385671T>G g.48527283T>G EBP(NM_006579.2):c.467T>G (p.V156G) - EBP_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 4 c.469G>C r.(?) p.(Gly157Arg) Unknown - pathogenic g.48385673G>C g.48527285G>C - - EBP_000037 - - - - Germline - - - - - DNA SEQ - - CPDX2 - - diagnosis in utero F no France - - - - - 1 Fabienne Dufernez
+?/. - c.470-2A>C r.spl? p.? Unknown - likely pathogenic g.48386620A>C - - - EBP_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 4i c.470-1G>A r.spl p.? Unknown - VUS g.48386621G>A g.48528233G>A - - EBP_000032 - - - - De novo - - - - - DNA SEQ - - CPDX2 - - - F no France - 00y01m - - - 1 Fabienne Dufernez
+/. - c.480T>G r.(?) p.(Tyr160*) Parent #1 - pathogenic g.48386632T>G g.48528244T>G - - EBP_000048 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783616 Germline - 2/2726 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
-?/. - c.511C>T r.(?) p.(Arg171Cys) Unknown - likely benign g.48386663C>T g.48528275C>T EBP(NM_006579.2):c.511C>T (p.R171C, p.(Arg171Cys)) - EBP_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.511C>T r.(?) p.(Arg171Cys) Unknown - likely benign g.48386663C>T g.48528275C>T EBP(NM_006579.2):c.511C>T (p.R171C, p.(Arg171Cys)) - EBP_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.511C>T r.(?) p.(Arg171Cys) Parent #1 - VUS g.48386663C>T g.48528275C>T - - EBP_000046 conflicting interpretations of pathogenicity; 12 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141925556 Germline - 12/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 12 Mohammed Faruq
?/. - c.529G>A r.(?) p.(Gly177Arg) Unknown - VUS g.48386681G>A - - - EBP_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.564C>T r.(?) p.(Tyr188=) Unknown - benign g.48386716C>T g.48528328C>T EBP(NM_006579.2):c.564C>T (p.Y188=) - EBP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 5 c.598C>T r.(?) p.(Pro200Ser) Unknown - likely pathogenic g.48386750C>T g.48528362C>T - - EBP_000029 - - - - De novo - - - - - DNA SEQ - - CPDX2 - - - F no France - 12y - - - 1 Fabienne Dufernez
-?/. - c.622G>A r.(?) p.(Val208Met) Unknown - likely benign g.48386774G>A - EBP(NM_006579.2):c.622G>A (p.(Val208Met)) - EBP_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.623_626dup r.(?) p.Lys209Asnfs Paternal (confirmed) - pathogenic g.48386775_48386778dup g.48528387_48528390dup - - EBP_000002 - - - - Germline - - - - - DNA PCR, SEQ - - CPDX2 - - father germinal mosaicism, 2 foetus abortion, diagnosis in utero F no France - - - - - 1 Fabienne Dufernez
+?/. - c.632T>G r.(?) p.(Leu211Arg) Parent #1 - likely pathogenic g.48386784T>G g.48528396T>G - - EBP_000049 9 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs587783619 Germline - 9/2784 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 9 Mohammed Faruq
-?/. - c.650C>T r.(?) p.(Thr217Met) Unknown - likely benign g.48386802C>T g.48528414C>T EBP(NM_006579.2):c.650C>T (p.T217M) - EBP_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.658G>A r.(?) p.(Ala220Thr) Unknown - likely benign g.48386810G>A - EBP(NM_006579.3):c.658G>A (p.(Ala220Thr)) - EBP_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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