Full data view for gene ZIC3

Information The variants shown are described using the NM_003413.3 transcript reference sequence.

97 entries on 1 page. Showing entries 1 - 97.
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Protein     

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Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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ISCN     

DB-ID     

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Reference     

ClinVar ID     

dbSNP ID     

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VIP     

Methylation     

Template     

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Tissue     

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Disease     

ID_report     

Reference     

Remarks     

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Owner     
-?/. - c.-17C>G r.(?) p.(=) - Unknown - likely benign g.136648834C>G g.137566675C>G - - ZIC3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.18_19delinsA r.(?) p.(Asp6Glufs*32) indel Unknown - likely pathogenic g.136648868_136648869delinsA g.137566709_137566710delinsA - - ZIC3_000005 - PubMed: Cowan 2014 - - Germline - - - - - DNA SEQ - - HTX1 - - - M ? - - - - - - 1 Aimee Paulussen
?/. - c.19G>A r.(?) p.(Gly7Arg) - Unknown - VUS g.136648869G>A - ZIC3(NM_003413.4):c.19G>A (p.G7R) - ZIC3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.49G>T r.(?) p.(Gly17Cys) substitution Unknown - - g.136648899G>T g.137566740G>T - - ZIC3_000034 - PubMed: Deluca et al. 2010, PubMed: D'Alessandro et al. 2013, PubMed: Cowan et al. 2014 - - Germline - 4 - - - DNA SEQ - - HTX1 - - - ? - - - - - - - 1 Aimee Paulussen
-?/. - c.49G>T r.(?) p.(Gly17Cys) - Unknown - likely benign g.136648899G>T g.137566740G>T ZIC3(NM_003413.3):c.49G>T (p.G17C, p.(Gly17Cys)), ZIC3(NM_003413.4):c.49G>T (p.G17C) - ZIC3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.49G>T r.(?) p.(Gly17Cys) - Unknown - likely benign g.136648899G>T g.137566740G>T ZIC3(NM_003413.3):c.49G>T (p.G17C, p.(Gly17Cys)), ZIC3(NM_003413.4):c.49G>T (p.G17C) - ZIC3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.49G>T r.(?) p.(Gly17Cys) - Unknown - likely benign g.136648899G>T g.137566740G>T ZIC3(NM_003413.3):c.49G>T (p.G17C, p.(Gly17Cys)), ZIC3(NM_003413.4):c.49G>T (p.G17C) - ZIC3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.49G>T r.(?) p.(Gly17Cys) - Parent #1 - VUS g.136648899G>T g.137566740G>T - - ZIC3_000034 conflicting interpretations of pathogenicity; 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs147232392 Germline - 1/2773 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
-?/. - c.49G>T r.(?) p.(Gly17Cys) - Unknown - likely benign g.136648899G>T - ZIC3(NM_003413.3):c.49G>T (p.G17C, p.(Gly17Cys)), ZIC3(NM_003413.4):c.49G>T (p.G17C) - ZIC3_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 1 c.98C>T r.(?) p.(Ala33Val) substitution Unknown - - g.136648948C>T g.137566789C>T - - ZIC3_000035 - PubMed: D'Alessandro et al. 2013 - - Germline - - - - - DNA SEQ - - HTX1 - - - M - - - - - - - 1 Aimee Paulussen
?/. - c.106G>C r.(?) p.(Gly36Arg) - Unknown - VUS g.136648956G>C - ZIC3(NM_003413.3):c.106G>C (p.G36R) - ZIC3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.128C>A r.(?) p.(Ser43*) substitution Unknown - - g.136648978C>A g.137566819C>A - - ZIC3_000006 - PubMed: Ware et al. 2004 - - Germline - - - - - DNA SEQ - - HTX1 - - - M - - - - - - - 1 Aimee Paulussen
-?/. - c.137C>G r.(?) p.(Ala46Gly) - Unknown - likely benign g.136648987C>G g.137566828C>G ZIC3(NM_003413.3):c.137C>G (p.A46G) - ZIC3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.148del r.(?) p.(Ala50Profs*9) deletion, small Unknown - - g.136648998del g.137566839del - - ZIC3_000007 - PubMed: Ma et al. 2012 - - Germline - - - - - DNA SEQ - - HTX1 - - - M ? - - - - - - 1 Aimee Paulussen
?/. - c.148G>T r.(?) p.(Ala50Ser) - Unknown - VUS g.136648998G>T g.137566839G>T ZIC3(NM_003413.4):c.148G>T (p.A50S) - ZIC3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.153_161del r.(?) p.(Ala53_Ala55del) deletion, small Unknown - - g.136649003_136649011del g.137566844_137566852del - - ZIC3_000036 - Paulussen et al., submitted - - Germline - - - - - DNA SEQ - - HTX1 - - - F - - - - - - - 1 Aimee Paulussen
?/. - c.153_161del r.(?) p.(Ala53_Ala55del) - Unknown - VUS g.136649003_136649011del g.137566844_137566852del ZIC3(NM_003413.3):c.153_161delCGCCGCCGC (p.A53_A55del), ZIC3(NM_003413.4):c.153_161delCGCCGCCGC (p.A53_A55del) - ZIC3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.153_161del r.(?) p.(Ala53_Ala55del) - Unknown - likely benign g.136649003_136649011del g.137566844_137566852del ZIC3(NM_003413.3):c.153_161delCGCCGCCGC (p.A53_A55del), ZIC3(NM_003413.4):c.153_161delCGCCGCCGC (p.A53_A55del) - ZIC3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.153_161del r.(?) p.(Ala53_Ala55del) - Unknown - VUS g.136649003_136649011del g.137566844_137566852del ZIC3(NM_003413.3):c.153_161delCGCCGCCGC (p.A53_A55del), ZIC3(NM_003413.4):c.153_161delCGCCGCCGC (p.A53_A55del) - ZIC3_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.153_161dup r.(?) p.(Ala53_Ala55dup) - Unknown - VUS g.136649003_136649011dup g.137566844_137566852dup - - ZIC3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.156_161dup r.(?) p.(Ala54_Ala55dup) - Unknown - VUS g.136649006_136649011dup g.137566847_137566852dup - - ZIC3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.157_165del r.(?) p.(Ala53_Ala55del) - Unknown - VUS g.136649007_136649015del g.137566848_137566856del ZIC3(NM_003413.3):c.154_162del (p.(Ala53_Ala55del)) - ZIC3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.157_165del r.(?) p.(Ala53_Ala55del) - Unknown - likely benign g.136649007_136649015del g.137566848_137566856del ZIC3(NM_003413.3):c.154_162del (p.(Ala53_Ala55del)) - ZIC3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.159_161dup r.(?) p.(Ala55dup) duplication, small Unknown - - g.136649009_136649011dup g.137566850_137566852dup - - ZIC3_000037 - PubMed: D'Alessandro et al. 2013, Paulussen et al. submitted - - Germline - 4 - - - DNA SEQ - - HTX1 - - - - - - - - - - - 1 Aimee Paulussen
-?/. - c.159_161dup r.(?) p.(Ala55dup) - Unknown - likely benign g.136649009_136649011dup g.137566850_137566852dup ZIC3(NM_003413.3):c.159_161dupCGC (p.A55dup), ZIC3(NM_003413.4):c.159_161dupCGC (p.A55dup) - ZIC3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159_161dup r.(?) p.(Ala55dup) - Unknown - likely benign g.136649009_136649011dup g.137566850_137566852dup ZIC3(NM_003413.3):c.159_161dupCGC (p.A55dup), ZIC3(NM_003413.4):c.159_161dupCGC (p.A55dup) - ZIC3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.159_161dup r.(?) p.(Ala55dup) - Unknown - benign g.136649009_136649011dup g.137566850_137566852dup ZIC3(NM_003413.3):c.159_161dupCGC (p.A55dup), ZIC3(NM_003413.4):c.159_161dupCGC (p.A55dup) - ZIC3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.159_161dup r.(?) p.(Ala55dup) - Unknown - likely benign g.136649009_136649011dup g.137566850_137566852dup ZIC3(NM_003413.3):c.159_161dupCGC (p.A55dup), ZIC3(NM_003413.4):c.159_161dupCGC (p.A55dup) - ZIC3_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/? 1 c.160_165dup r.(?) p.(Ala54_Ala55dup) duplication, small Unknown - - g.136649010_136649015dup g.137566851_137566856dup - - ZIC3_000038 - PubMed: Wessels et al. 2010 - - De novo - - - - - DNA SEQ - - HTX1 - - - M - - - - - - - 1 Aimee Paulussen
./. 1 c.160_168dup r.(?) p.(Ala54_Phe56dup) duplication, small Unknown - - g.136649010_136649018dup g.137566851_137566859dup - - ZIC3_000039 - PubMed: D'Alessandro et al. 2013 - - Germline - - - - - DNA SEQ - - HTX1 - - - F - - - - - - - 1 Aimee Paulussen
-?/. - c.162T>C r.(?) p.(Ala54=) - Unknown - likely benign g.136649012T>C g.137566853T>C - - ZIC3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.227C>T r.(?) p.(Pro76Leu) - Unknown - VUS g.136649077C>T - ZIC3(NM_003413.3):c.227C>T (p.P76L) - ZIC3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.241_242dup r.(?) p.(Ala82Thrfs*142) duplication, small Maternal (confirmed) - likely pathogenic g.136649091_136649092dup g.137566932_137566933dup 241_242dupTA - ZIC3_000002 - PubMed: El Malti 2016, Journal: El Malti 2016 - - Germline yes 1/156 patients - - - DNA SEQ thymus - HTX1 MC177 PubMed: El Malti 2016, Journal: El Malti 2016 - M no Benin African 00y00m - yes - 1 Patrice Bouvagnet
-?/. - c.270C>T r.(?) p.(His90=) - Unknown - likely benign g.136649120C>T g.137566961C>T ZIC3(NM_003413.3):c.270C>T (p.H90=) - ZIC3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.288C>T r.(?) p.(His96=) - Unknown - likely benign g.136649138C>T - ZIC3(NM_003413.3):c.288C>T (p.H96=) - ZIC3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.291_295del r.(291_295del) p.(His97Glnfs*31) deletion, small Maternal (confirmed) - pathogenic g.136649141_136649145del g.137566982_137566986del - - ZIC3_000068 - PubMed: Liu 2020, Journal: Liu 2020 - - Germline yes 1/80 patients - - - DNA SEQ, SEQ-NG-I Thymus Panel of 348 genes CHD, HTX Pt6402 PubMed: Liu 2020, Journal: Liu 2020 - M no France - 00y - - - 2 Patrice Bouvagnet
+?/. 1 c.291_295del r.(291_295del) p.(His97Glnfs*31) deletion, small Maternal (confirmed) - pathogenic g.136649141_136649145del g.137566982_137566986del - - ZIC3_000068 - PubMed: Liu 2020, Journal: Liu 2020 - - Germline yes - - - - DNA SEQ Blood - CHD Pt7146 PubMed: Liu 2020, Journal: Liu 2020 - F no France - 00y - - - 1 Patrice Bouvagnet
?/. 1 c.326C>G r.(?) p.(Ser109Cys) substitution Unknown - - g.136649176C>G g.137567017C>G - - ZIC3_000008 - PubMed: Cowan et al. 2014 - - Germline - - - - - DNA SEQ - - HTX1 - - - M ? - - - - - - 1 Aimee Paulussen
?/. - c.331G>A r.(?) p.(Ala111Thr) - Unknown - VUS g.136649181G>A g.137567022G>A - - ZIC3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.352T>C r.(?) p.(Phe118Leu) - Unknown - likely benign g.136649202T>C g.137567043T>C - - ZIC3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.445G>A r.(?) p.(Ala149Thr) - Unknown - likely benign g.136649295G>A - ZIC3(NM_003413.3):c.445G>A (p.A149T) - ZIC3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.452C>G r.(?) p.(Ala151Gly) - Unknown - likely benign g.136649302C>G - ZIC3(NM_003413.3):c.452C>G (p.A151G) - ZIC3_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.463G>T r.(?) p.(Glu155*) substitution Unknown - - g.136649313G>T g.137567154G>T - - ZIC3_000009 - PubMed: Cowan et al. 2014 - - Germline - - - - - DNA SEQ - - HTX1 - - - M ? - - - - - - 1 Aimee Paulussen
?/. - c.469C>A r.(?) p.(Pro157Thr) - Unknown - VUS g.136649319C>A - ZIC3(NM_003413.3):c.469C>A (p.P157T) - ZIC3_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.576G>C r.(?) p.(Leu192=) - Unknown - likely benign g.136649426G>C g.137567267G>C ZIC3(NM_003413.4):c.576G>C (p.L192=) - ZIC3_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.595_610del r.(?) p.(Tyr199Alafs*19) deletion, small Unknown - - g.136649445_136649460del g.137567286_137567301del - - ZIC3_000010 - PubMed: Cowan et al. 2014 - - Germline - - - - - DNA SEQ - - HTX1 - - - M ? - - - - - - 1 Aimee Paulussen
-?/. - c.607G>A r.(?) p.(Ala203Thr) - Unknown - likely benign g.136649457G>A g.137567298G>A ZIC3(NM_003413.4):c.607G>A (p.A203T) - ZIC3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 1 c.649C>A r.(?) p.(Pro217Thr) substitution Unknown - - g.136649499C>A g.137567340C>A - - ZIC3_000033 - PubMed: Ware et al.2004, PubMed: Cowan et al. 2014 - - Germline - 2 - - - DNA SEQ - - HTX1 - - - M - - - - - - - 1 Aimee Paulussen
-?/. - c.649C>G r.(?) p.(Pro217Ala) - Unknown - likely benign g.136649499C>G g.137567340C>G ZIC3(NM_003413.3):c.649C>G (p.(Pro217Ala)), ZIC3(NM_003413.4):c.649C>G (p.P217A) - ZIC3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.649C>G r.(?) p.(Pro217Ala) - Unknown - benign g.136649499C>G g.137567340C>G ZIC3(NM_003413.3):c.649C>G (p.(Pro217Ala)), ZIC3(NM_003413.4):c.649C>G (p.P217A) - ZIC3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.673_678dup r.(?) p.(Asn225_Met226dup) - Unknown - VUS g.136649523_136649528dup - ZIC3(NM_003413.3):c.673_678dupAACATG (p.N225_M226dup), ZIC3(NM_003413.4):c.673_678dupAACATG (p.N225_M226dup) - ZIC3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.673_678dup r.(?) p.(Asn225_Met226dup) - Unknown - VUS g.136649523_136649528dup - ZIC3(NM_003413.3):c.673_678dupAACATG (p.N225_M226dup), ZIC3(NM_003413.4):c.673_678dupAACATG (p.N225_M226dup) - ZIC3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.676A>C r.(?) p.(Met226Leu) - Unknown - VUS g.136649526A>C - ZIC3(NM_003413.3):c.676A>C (p.M226L) - ZIC3_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.678G>A r.(?) p.(Met226Ile) - Unknown - VUS g.136649528G>A g.137567369G>A ZIC3(NM_003413.3):c.678G>A (p.(Met226Ile)) - ZIC3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.680dup r.(?) p.(Val228Serfs*50) duplication, small Maternal (confirmed) - pathogenic g.136649530dup g.137567371dup - - ZIC3_000011 - Paulussen et al., submitted - - Germline yes - - - - DNA SEQ - - HTX1 - - - M no Sweden - - - - - 1 Aimee Paulussen
+/. - c.680dup r.(?) p.(Val228SerfsTer50) - Unknown - pathogenic g.136649530dup g.137567371dup - - ZIC3_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.712G>A r.(?) p.(Ala238Thr) - Unknown - VUS g.136649562G>A - - - ZIC3_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.745C>T r.(?) p.(Gln249*) substitution Unknown - - g.136649595C>T g.137567436C>T - - ZIC3_000032 - PubMed: Ware te al. 2004 - - Germline - - - - - DNA SEQ - - HTX1 - - - M - - - - - - - 1 Aimee Paulussen
+/+ 1 c.755C>A r.(?) p.(Ser252*) substitution Unknown - pathogenic g.136649605C>A g.137567446C>A - - ZIC3_000031 - PubMed: Cowan et al. 2014 - - Germline - - - - - DNA SEQ - - HTX1 - - - F - - - - - - - 1 Aimee Paulussen
+?/. - c.757T>C r.(?) p.(Cys253Arg) - Unknown - likely pathogenic g.136649607T>C - ZIC3(NM_003413.4):c.757T>C (p.C253R) - ZIC3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.758G>C r.(?) p.(Cys253Ser) substitution Unknown - - g.136649608G>C g.137567449G>C - - ZIC3_000030 - PubMed: Ware et al. 2004 - - Germline - - - - - DNA SEQ - - HTX1 - - - M - - - - - - - 1 Aimee Paulussen
+?/+? 1 c.763T>G r.(?) p.(Trp255Gly) substitution Unknown - - g.136649613T>G g.137567454T>G - - ZIC3_000029 - PubMed: Chhin et al. 2007 - - Germline - - - - - DNA SEQ - - HTX1 - - - M - - - - - - - 1 Aimee Paulussen
+/+ 1 c.804C>A r.(?) p.(Cys268*) substitution Unknown - pathogenic g.136649654C>A g.137567495C>A - - ZIC3_000028 - PubMed: Gebbia et al. 1997 - - Germline - - - - - DNA SEQ - - HTX1 - - - M - - - - - - - 1 Aimee Paulussen
?/. - c.809G>C r.(?) p.(Arg270Pro) - Unknown - VUS g.136649659G>C - ZIC3(NM_003413.4):c.809G>C (p.(Arg270Pro)) - ZIC3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.842_843del r.(?) p.(His281Argfs*62) deletion, small Maternal (confirmed) - pathogenic g.136649692_136649693del g.137567533_137567534del - - ZIC3_000012 - Paulussen et al., submitted - - Germline yes - - - - DNA SEQ - - HTX1 - - - M no Spain - - - - - 1 Aimee Paulussen
+/. - c.842_843del r.(?) p.(His281ArgfsTer62) - Unknown - pathogenic g.136649692_136649693del g.137567533_137567534del - - ZIC3_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. 1 c.857A>G r.(?) p.(His286Arg) substitution Unknown - - g.136649707A>G g.137567548A>G - - ZIC3_000027 - PubMed: Gebbia et al. 1997 - - Germline - - - - - DNA SEQ - - HTX1 - - - ? - - - - - - - 1 Aimee Paulussen
-/. - c.861G>A r.(?) p.(Val287=) - Unknown - benign g.136649711G>A g.137567552G>A ZIC3(NM_003413.4):c.861G>A (p.V287=) - ZIC3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.861G>A r.(?) p.(Val287=) - Unknown - benign g.136649711G>A - ZIC3(NM_003413.4):c.861G>A (p.V287=) - ZIC3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.866dup r.(?) p.(Glu291Glyfs*53) duplication, small Unknown - - g.136649716dup g.137567557dup - - ZIC3_000026 - PubMed: Cowan et al. 2014 - - Germline - - - - - DNA SEQ - - HTX1 - - - M - - - - - - - 1 Aimee Paulussen
+/+ 1 c.869del r.(?) p.(Pro290Argfs*118) deletion, small Maternal (inferred) - pathogenic g.136649719del g.137567560del - - ZIC3_000013 - Paulussen et al., submitted - - Germline - - - - - DNA SEQ - - HTX1 - - - M no Hungary - - - - - 1 Aimee Paulussen
+/. - c.869del r.(?) p.(Pro290ArgfsTer118) - Unknown - pathogenic g.136649719del g.137567560del - - ZIC3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.874C>T r.(?) p.(Gln292*) substitution Unknown - - g.136649724C>T g.137567565C>T - - ZIC3_000025 - PubMed: Gebbia et al. 1997 - - Germline - - - - - DNA SEQ - - HTX1 - - - M - - - - - - - 1 Aimee Paulussen
+?/. 1 c.876G>C r.(?) p.(Gln292His) substitution Maternal (confirmed) - likely pathogenic g.136649726G>C g.137567567G>C - - ZIC3_000003 - PubMed: El Malti 2016, Journal: El Malti 2016 - - Germline yes 1/156 patients - - - DNA SEQ blood - CHD MC069 PubMed: El Malti 2016, Journal: El Malti 2016 - M no France gypsy >14y - yes liver transplantation 1 Patrice Bouvagnet
+?/. 1 c.889T>G r.(?) p.(Cys297Gly) substitution Maternal (confirmed) - likely pathogenic g.136649739T>G g.137567580T>G - - ZIC3_000004 - PubMed: El Malti 2016, Journal: El Malti 2016 - - Germline yes 1/156 patients - - - DNA SEQ thymus - CHD MC194 PubMed: El Malti 2016, Journal: El Malti 2016 - M no France European 00y00m - yes - 1 Patrice Bouvagnet
-/. - c.912G>A r.(?) p.(Arg304=) - Unknown - benign g.136649762G>A g.137567603G>A ZIC3(NM_003413.3):c.912G>A (p.R304=) - ZIC3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.920A>G r.(?) p.(Lys307Arg) - Unknown - likely benign g.136649770A>G g.137567611A>G ZIC3(NM_003413.3):c.920A>G (p.(Lys307Arg)) - ZIC3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.952C>A r.(?) p.(His318Asn) substitution Unknown - - g.136649802C>A g.137567643C>A - - ZIC3_000024 - PubMed: Cowan et al. 2014 - - Germline - - - - - DNA SEQ - - HTX1 - - - F - - - - - - - 1 Aimee Paulussen
+?/+? 1 c.968C>T r.(?) p.(Thr323Met) substitution Unknown - - g.136649818C>T g.137567659C>T - - ZIC3_000023 - PubMed: Gebbia et al. 1997 - - Germline - - - - - DNA SEQ - - HTX1 - - - M - - - - - - - 1 Aimee Paulussen
+?/. 1 c.968C>T r.(968c>u) p.(Thr323Met) - Maternal (confirmed) - pathogenic g.136649818C>T g.137567659C>T - - ZIC3_000023 - PubMed: Liu 2020, Journal: Liu 2020 - rs122462165 Germline yes 1/80 patients - - - DNA SEQ Amniocentesis Panel of 461 genes CHD, HTX Pt7129 PubMed: Liu 2020, Journal: Liu 2020 - M no France - 00y - - - 2 Patrice Bouvagnet
+?/. 1 c.968C>T r.(968c>u) p.(Thr323Met) substitution Maternal (confirmed) - pathogenic g.149718772C>T g.149397636C>T - - ZIC3_000023 Variant Error [EBUILDMISMATCH]: This variant seems to mismatch; the genomic variants on hg19 and hg38 seem to not belong together. Please fix this entry and then remove this message. PubMed: Liu 2020, Journal: Liu 2020 - rs122462165 Germline yes - - - - DNA SEQ Blood - CHD, HTX Pt7883 PubMed: Liu 2020, Journal: Liu 2020 - M no France - 00y01m? - - - 1 Patrice Bouvagnet
+?/+? 1 c.972_973insTT r.(?) p.(Glu325Leufs*84) insertion, small Unknown - - g.136649822_136649823insTT g.137567663_137567664insTT - - ZIC3_000022 - PubMed: Gebbia et al. 1997 - - Germline - - - - - DNA SEQ - - HTX1 - - - M - - - - - - - 1 Aimee Paulussen
?/. - c.1021C>G r.(?) p.(Arg341Gly) - Unknown - VUS g.136649871C>G - ZIC3(NM_003413.3):c.1021C>G (p.(Arg341Gly)) - ZIC3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 1 c.1048A>G r.(?) p.(Arg350Gly) substitution Unknown - - g.136649898A>G g.137567739A>G - - ZIC3_000021 - PubMed: D'Alessandro et al. 2013 - - Germline - - - - - DNA SEQ - - HTX1 - - - F - - - - - - - 1 Aimee Paulussen
+/+ - c.1060+1G>A r.spl? p.? substitution Maternal (confirmed) - pathogenic g.136649911G>A g.137567752G>A - - ZIC3_000014 - Paulussen et al. submitted - - Germline yes - - - - DNA SEQ - - HTX1 - - - M no Netherlands white - - - - 1 Aimee Paulussen
+?/. - c.1060+1G>A r.spl? p.? - Unknown - likely pathogenic g.136649911G>A g.137567752G>A - - ZIC3_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.1063G>T r.(?) p.(Glu355*) substitution Unknown - pathogenic g.136651063G>T g.137568904G>T - - ZIC3_000015 - Paulussen et al. submitted - - Germline - - - - - DNA SEQ - - HTX1 - - - F no Finland - - - - - 1 Aimee Paulussen
+/. - c.1063G>T r.(?) p.(Glu355Ter) - Unknown - pathogenic g.136651063G>T g.137568904G>T - - ZIC3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 2 c.1111A>C r.(?) p.(Asn371His) substitution Maternal (confirmed) - pathogenic g.136651111A>C g.137568952A>C - - ZIC3_000016 - Paulussen et al. submitted - - Germline yes - - - - DNA SEQ - - HTX1 - - - M no Denmark - - - - - 1 Aimee Paulussen
+/. - c.1111A>C r.(?) p.(Asn371His) - Unknown - pathogenic g.136651111A>C g.137568952A>C - - ZIC3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1160C>G r.(?) p.(Pro387Arg) - Unknown - VUS g.136651160C>G g.137569001C>G ZIC3(NM_003413.4):c.1160C>G (p.P387R) - ZIC3_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 2 c.1204T>C r.(?) p.(Ser402Pro) substitution Maternal (confirmed) - - g.136651204T>C g.137569045T>C - - ZIC3_000017 - PubMed: Ma et al. 2012 - - Germline - - - - - DNA SEQ - - HTX1 - - - F - - - - - - - 1 Aimee Paulussen
+?/+? 2 c.1213A>G r.(?) p.(Lys405Glu) substitution Unknown - - g.136651213A>G g.137569054A>G - - ZIC3_000018 - PubMed: Ware et al. 2004 - - Germline - - - - - DNA SEQ - - HTX1 - - - F - - - - - - - 1 Aimee Paulussen
+?/+? 2 c.1222A>T r.(?) p.(Lys408*) substitution Unknown - - g.136651222A>T g.137569063A>T - - ZIC3_000019 - PubMed: Megarbane et al. 2000 - - Germline - - - - - DNA SEQ - - HTX1 - - - M - - - - - - - 1 Aimee Paulussen
./. 3 c.1340C>G r.(?) p.(Ala447Gly) substitution Unknown - - g.136652165C>G g.137570006C>G - - ZIC3_000020 - PubMed: Cowan et al. 2014 - - Germline - - - - - DNA SEQ - - HTX1 - - - F - - - - - - - 1 Aimee Paulussen
?/. - c.*7100C>T r.(=) p.(=) - Unknown - VUS g.136659329C>T g.137577170C>T ZIC3(NM_001330661.1):c.1273C>T (p.L425F) - ZIC3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*7100C>T r.(=) p.(=) - Unknown - VUS g.136659329C>T - ZIC3(NM_001330661.1):c.1273C>T (p.L425F) - ZIC3_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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