Full data view for gene PRDM13

Information The variants shown are described using the NM_021620.3 transcript reference sequence.

108 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)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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Frequency     

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VIP     

Methylation     

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Disease     

ID_report     

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Gender     

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VIP     

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Panel size     

Owner     
+?/. - - r.? p.? Unknown ACMG likely pathogenic g.100040974A>C - - - PRDM13_000017 - PubMed: Sharon 2019 - - Germline - 1/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 1 IRD family - - Israel - - - - - 1 Global Variome, with Curator vacancy
+?/. _1 - r.(?) p.? Unknown - likely pathogenic g.100040987G>C g.99593111G>C single nucleotide variant upstream of the PRDM13 gene (V2) (c.-13924G>C; chr6:100040987) - PRDM13_000017 heterozygous PubMed: Birtel 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - gene panel: genes involved in developmental and progressive inherited retinal diseases retinal disease A.I:2 PubMed: Birtel 2021 Family A, individual I:2 F - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Unknown - likely pathogenic g.100040987G>C g.99593111G>C single nucleotide variant upstream of the PRDM13 gene (V2) (c.-13924G>C; chr6:100040987) - PRDM13_000017 heterozygous PubMed: Birtel 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - gene panel: genes involved in developmental and progressive inherited retinal diseases retinal disease A.I:3 PubMed: Birtel 2021 Family A, individual I:3 F - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Maternal (confirmed) - likely pathogenic g.100040987G>C g.99593111G>C single nucleotide variant upstream of the PRDM13 gene (V2) (c.-13924G>C; chr6:100040987) - PRDM13_000017 heterozygous PubMed: Birtel 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - gene panel: genes involved in developmental and progressive inherited retinal diseases retinal disease A.II:1 PubMed: Birtel 2021 Family A, individual II:1 F - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Maternal (confirmed) - likely pathogenic g.100040987G>C g.99593111G>C single nucleotide variant upstream of the PRDM13 gene (V2) (c.-13924G>C; chr6:100040987) - PRDM13_000017 heterozygous PubMed: Birtel 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - gene panel: genes involved in developmental and progressive inherited retinal diseases retinal disease A.II:3 PubMed: Birtel 2021 Family A, individual II:3 F - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Maternal (confirmed) - likely pathogenic g.100040987G>C g.99593111G>C single nucleotide variant upstream of the PRDM13 gene (V2) (c.-13924G>C; chr6:100040987) - PRDM13_000017 heterozygous PubMed: Birtel 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - gene panel: genes involved in developmental and progressive inherited retinal diseases retinal disease A.II:4 PubMed: Birtel 2021 Family A, individual II:4 F - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Unknown - likely pathogenic g.100040987G>C g.99593111G>C single nucleotide variant upstream of the PRDM13 gene (V2) (c.-13924G>C; chr6:100040987) - PRDM13_000017 heterozygous PubMed: Birtel 2021 - - Germline yes - - - - DNA SEQ - gene panel: genes involved in developmental and progressive inherited retinal diseases retinal disease B.I:1 PubMed: Birtel 2021 Family B, individual I:1 F - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Maternal (confirmed) - likely pathogenic g.100040987G>C g.99593111G>C single nucleotide variant upstream of the PRDM13 gene (V2) (c.-13924G>C; chr6:100040987) - PRDM13_000017 heterozygous PubMed: Birtel 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - gene panel: genes involved in developmental and progressive inherited retinal diseases retinal disease B.II:1 PubMed: Birtel 2021 Family B, individual II:1 M - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Maternal (confirmed) - likely pathogenic g.100040987G>C g.99593111G>C single nucleotide variant upstream of the PRDM13 gene (V2) (c.-13924G>C; chr6:100040987) - PRDM13_000017 heterozygous PubMed: Birtel 2021 - - Germline yes - - - - DNA SEQ - gene panel: genes involved in developmental and progressive inherited retinal diseases retinal disease B.II:2 PubMed: Birtel 2021 Family B, individual II:2 F - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Paternal (confirmed) - likely pathogenic g.100040987G>C g.99593111G>C single nucleotide variant upstream of the PRDM13 gene (V2) (c.-13924G>C; chr6:100040987) - PRDM13_000017 heterozygous PubMed: Birtel 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - gene panel: genes involved in developmental and progressive inherited retinal diseases retinal disease B.III:1 PubMed: Birtel 2021 Family B, individual III:1 M - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Paternal (confirmed) - likely pathogenic g.100040987G>C g.99593111G>C single nucleotide variant upstream of the PRDM13 gene (V2) (c.-13924G>C; chr6:100040987) - PRDM13_000017 heterozygous PubMed: Birtel 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - gene panel: genes involved in developmental and progressive inherited retinal diseases retinal disease B.III:2 PubMed: Birtel 2021 Family B, individual III:2 M - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Unknown - likely pathogenic g.100040987G>C g.99593111G>C single nucleotide variant upstream of the PRDM13 gene (V2) (c.-13924G>C; chr6:100040987) - PRDM13_000017 heterozygous PubMed: Birtel 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - gene panel: genes involved in developmental and progressive inherited retinal diseases retinal disease C.I:1 PubMed: Birtel 2021 Family C, individual I:1 F - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Maternal (confirmed) - likely pathogenic g.100040987G>C g.99593111G>C single nucleotide variant upstream of the PRDM13 gene (V2) (c.-13924G>C; chr6:100040987) - PRDM13_000017 heterozygous PubMed: Birtel 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - gene panel: genes involved in developmental and progressive inherited retinal diseases retinal disease C.II:1 PubMed: Birtel 2021 Family C, individual II:1 F - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Paternal (confirmed) - likely pathogenic g.100040987G>C g.99593111G>C single nucleotide variant upstream of the PRDM13 gene (V2) (c.-13924G>C; chr6:100040987) - PRDM13_000017 heterozygous PubMed: Birtel 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - gene panel: genes involved in developmental and progressive inherited retinal diseases retinal disease C.II:2 PubMed: Birtel 2021 Family C, individual II:2 M - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Unknown - likely pathogenic g.100040987G>C g.99593111G>C single nucleotide variant upstream of the PRDM13 gene (V2) (c.-13924G>C; chr6:100040987) - PRDM13_000017 heterozygous PubMed: Birtel 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - gene panel: genes involved in developmental and progressive inherited retinal diseases retinal disease D.I:1 PubMed: Birtel 2021 Family D, individual I:1 M - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Paternal (confirmed) - likely pathogenic g.100040987G>C g.99593111G>C single nucleotide variant upstream of the PRDM13 gene (V2) (c.-13924G>C; chr6:100040987) - PRDM13_000017 heterozygous PubMed: Birtel 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - gene panel: genes involved in developmental and progressive inherited retinal diseases retinal disease D.II:1 PubMed: Birtel 2021 Family D, individual II:1 F - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Maternal (confirmed) - likely pathogenic g.100040987G>C g.99593111G>C single nucleotide variant upstream of the PRDM13 gene (V2) (c.-13924G>C; chr6:100040987) - PRDM13_000017 heterozygous PubMed: Birtel 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - gene panel: genes involved in developmental and progressive inherited retinal diseases retinal disease D.III:1 PubMed: Birtel 2021 Family D, individual III:1 F - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Unknown - likely pathogenic g.100040987G>C g.99593111G>C single nucleotide variant upstream of the PRDM13 gene (V2) (c.-13924G>C; chr6:100040987) - PRDM13_000017 heterozygous PubMed: Birtel 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - gene panel: genes involved in developmental and progressive inherited retinal diseases retinal disease E.I:1 PubMed: Birtel 2021 Family E, individual I:1; also sister and her daughter affected but not tested F - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Unknown - likely pathogenic g.100040987G>C g.99593111G>C single nucleotide variant upstream of the PRDM13 gene (V2) (c.-13924G>C; chr6:100040987) - PRDM13_000017 heterozygous PubMed: Birtel 2021 - - Germline yes - - - - DNA SEQ-NG, SEQ - gene panel: genes involved in developmental and progressive inherited retinal diseases retinal disease F.I:1 PubMed: Birtel 2021 Family F, individual I:1 - - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Unknown - likely pathogenic g.100040987G>C g.99593111G>C PRDM13 chr6:100,040,987G>C - PRDM13_000017 heterozygous PubMed: Green 2021 - - Germline yes - - - - DNA ? - - retinal disease 123660 PubMed: Green 2021 Family 123660, individual II:2 F - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Paternal (inferred) - likely pathogenic g.100040987G>C g.99593111G>C PRDM13 chr6:100,040,987G>C - PRDM13_000017 heterozygous PubMed: Green 2021 - - Germline yes - - - - DNA ? - - retinal disease 89794 PubMed: Green 2021 Family 89794, individual II:2, brother of II:3 M - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Paternal (inferred) - likely pathogenic g.100040987G>C g.99593111G>C PRDM13 chr6:100,040,987G>C - PRDM13_000017 heterozygous PubMed: Green 2021 - - Germline yes - - - - DNA ? - - retinal disease 89794 PubMed: Green 2021 Family 89794, individual II:3, brother of II:2 M - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Maternal (confirmed) - likely pathogenic g.100040987G>C g.99593111G>C PRDM13 chr6:100,040,987G>C - PRDM13_000017 heterozygous PubMed: Green 2021 - - Germline yes - - - - DNA ? - - retinal disease 75898 PubMed: Green 2021 Family 75898, individual III:2; mother and maternal grandmother previously described in Manes et al.., 2017 M - - - - - - - 1 LOVD
+?/. _1 c.-13924G>C r.(?) p.(?) Parent #1 ACMG likely pathogenic g.100040987G>C g.99593111G>C c.-13924G>C - PRDM13_000017 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 071783 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - - r.(?) p.(?) Unknown - likely pathogenic g.100040906G>T - promoter chr6:100040906G>T - PRDM13_000017 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 916 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+?/. - - r.(?) p.(?) Unknown - likely pathogenic g.100040987G>C - promoter chr6:100040987G>C - PRDM13_000017 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 917 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+/. _1 - r.(=) p.(=) Parent #1 - pathogenic (dominant) g.100040906G>T g.99593030G>T c.-14005G>T - PRDM13_000017 - PubMed: Small 2016 - rs1554264612 Germline yes - - - - DNA SEQ, SEQ-NG - WGS macular dystrophy FamA PubMed: Small 2016 8-generation family, 51 affected F;M - United States - - - - - 51 Johan den Dunnen
+/. _1 - r.(=) p.(=) Parent #1 - pathogenic (dominant) g.100040906G>T g.99593030G>T c.-14005G>T - PRDM13_000017 - PubMed: Small 2016 - rs1554264612 Germline yes - - - - DNA SEQ - - macular dystrophy FamB PubMed: Small 2016 5-generation family, 13 affected (5F, 8M) F;M - United States - - - - - 13 Johan den Dunnen
+/. _1 - r.(=) p.(=) Parent #1 - pathogenic (dominant) g.100040906G>T g.99593030G>T c.-14005G>T - PRDM13_000017 - PubMed: Small 2016 - rs1554264612 Germline yes - - - - DNA SEQ - - macular dystrophy FamC PubMed: Small 2016 6-generation family, 18 affected (12F, 3M) F;M - United States - - - - - 18 Johan den Dunnen
+/. _1 - r.(=) p.(=) Parent #1 - pathogenic (dominant) g.100040906G>T g.99593030G>T c.-14005G>T - PRDM13_000017 - PubMed: Small 2016 - rs1554264612 Germline yes - - - - DNA SEQ - - macular dystrophy FamD PubMed: Small 2016 3-generation family, 7 affected (2F, 5M) F;M - United States - - - - - 7 Johan den Dunnen
+/. _1 - r.(=) p.(=) Parent #1 - pathogenic (dominant) g.100040906G>T g.99593030G>T c.-14005G>T - PRDM13_000017 - PubMed: Small 2016 - rs1554264612 Germline yes - - - - DNA SEQ - - macular dystrophy FamE PubMed: Small 2016 3-generation family, 4 affected (2F, 2M) F;M - United States - - - - - 4 Johan den Dunnen
+/. _1 - r.(=) p.(=) Parent #1 - pathogenic (dominant) g.100040906G>T g.99593030G>T c.-14005G>T - PRDM13_000017 - PubMed: Small 2016 - rs1554264612 Germline yes - - - - DNA SEQ - - macular dystrophy FamF PubMed: Small 2016 4-generation family, 8 affected (3F, 5M) F;M - - - - - - - 8 Johan den Dunnen
+/. _1 - r.(=) p.(=) Parent #1 - pathogenic (dominant) g.100040987G>C g.99593111G>C c.-13924G>C - PRDM13_000017 - PubMed: Small 2016 - - Germline yes - - - - DNA SEQ - - macular dystrophy FamG PubMed: Small 2016 5-generation family, 15 affected (8F, 7M) F;M - France - - - - - 15 Johan den Dunnen
+/. _1 - r.(=) p.(=) Parent #1 - pathogenic (dominant) g.100040987G>C g.99593111G>C c.-13924G>C - PRDM13_000017 - PubMed: Small 2016 - - Germline yes - - - - DNA SEQ - - macular dystrophy FamH PubMed: Small 2016 3-generation family, 5 affected (3F, 2M) F;M - - - - - - - 5 Johan den Dunnen
+/. _1 - r.(=) p.(=) Parent #1 - pathogenic (dominant) g.100040987G>C g.99593111G>C c.-13924G>C - PRDM13_000017 - PubMed: Small 2016 - - Germline yes - - - - DNA SEQ - - macular dystrophy FamI PubMed: Small 2016 5-generation family, 14 affected (4F, 10M) F;M - - - - - - - 14 Johan den Dunnen
+/. _1 - r.(=) p.(=) Parent #1 - pathogenic (dominant) g.100041040C>T g.99593164C>T c.-13871C>T - PRDM13_000017 - PubMed: Small 2016 - - Germline yes - - - - DNA SEQ - - macular dystrophy FamJ PubMed: Small 2016 3-generation family, 11 affected (3F) F - - - - - - - 3 Johan den Dunnen
+?/. _1 - r.(=) p.(=) Parent #1 - likely pathogenic (dominant) g.100040974A>C - c.-13937A>C - PRDM13_000017 variant notfound in one questionably unaffected child (IV:3) PubMed: Namburi 2020 - - Germline yes - - - - DNA SEQ, SEQ-NG - WES, targeted macular dystrophy MOL1154 PubMed: Namburi 2020 4-generation family, 6 affected (6F) F - Georgia Jewish - - - - 6 Johan den Dunnen
+?/. _1 - r.(?) p.? Paternal (inferred) - likely pathogenic g.100046804T>C g.99598928T>C c.-8107T>C - PRDM13_000017 - PubMed: Silva 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ blood whole genome sequencing retinal disease III:9 PubMed: Silva 2019 family GC4059, patient III:9 (proband) M - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Maternal (confirmed) - likely pathogenic g.100046804T>C g.99598928T>C c.-8107T>C - PRDM13_000017 - PubMed: Silva 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ blood whole genome sequencing retinal disease IV:1 PubMed: Silva 2019 family GC4059, patient IV:1 F - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Paternal (confirmed) - likely pathogenic g.100046804T>C g.99598928T>C c.-8107T>C - PRDM13_000017 - PubMed: Silva 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ blood whole genome sequencing retinal disease IV:5 PubMed: Silva 2019 family GC4059, patient IV:5 M - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Paternal (confirmed) - likely pathogenic g.100046804T>C g.99598928T>C c.-8107T>C - PRDM13_000017 - PubMed: Silva 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ blood whole genome sequencing retinal disease IV:7 PubMed: Silva 2019 family GC4059, patient IV:7 F - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Unknown - likely pathogenic g.100046804T>C g.99598928T>C c.-8107T>C - PRDM13_000017 - PubMed: Silva 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ blood - retinal disease II:2 PubMed: Silva 2019 family GC21086, patient II:2 (proband) M - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Paternal (confirmed) - likely pathogenic g.100046804T>C g.99598928T>C c.-8107T>C - PRDM13_000017 - PubMed: Silva 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ blood whole genome sequencing retinal disease III:2 PubMed: Silva 2019 family GC21086, patient III:2 F - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Paternal (confirmed) - likely pathogenic g.100046804T>C g.99598928T>C c.-8107T>C - PRDM13_000017 - PubMed: Silva 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ blood - retinal disease III:3 PubMed: Silva 2019 family GC21086, patient III:3 F - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Maternal (confirmed) - likely pathogenic g.100046804T>C g.99598928T>C c.-8107T>C - PRDM13_000017 - PubMed: Silva 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ blood whole genome sequencing retinal disease IV:1 PubMed: Silva 2019 family GC21086, patient IV:1 M - - - - - - - 1 LOVD
+?/. _1 - r.(?) p.? Maternal (confirmed) - likely pathogenic g.100046804T>C g.99598928T>C c.-8107T>C - PRDM13_000017 - PubMed: Silva 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ blood - retinal disease IV:2 PubMed: Silva 2019 family GC21086, patient IV:2 M - - - - - - - 1 LOVD
+?/. _1 - r.(=) p.(=) Unknown - likely pathogenic (dominant) g.100046783A>C g.99598907A>C c.-8128A>C - PRDM13_000017 - PubMed: Silva 2019 - - De novo yes - - - - DNA arraySNP, SEQ-NG-I, SEQ blood whole genome sequencing retinal disease II:2 PubMed: Silva 2019 family GC20008, patient II:2 F - - East Asian/Caucasian - - - - 1 LOVD
+?/. _1 - r.(=) p.(=) Maternal (confirmed) - likely pathogenic (dominant) g.100046783A>C g.99598907A>C c.-8128A>C - PRDM13_000017 - PubMed: Silva 2019 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ blood whole genome sequencing retinal disease III:1 PubMed: Silva 2019 family GC20008, patient III:1 M - - - - - - - 1 LOVD
+?/. _1 - r.(=) p.(=) Paternal (confirmed) - likely pathogenic g.100046790T>C g.99598914T>C c.-8121T>C - PRDM13_000017 - - - - Germline ? - - - - DNA SEQ-NG-I - - MCDR1 - - - F no Korea, South (Republic) Asian - - - - 1 Jinu Han
+?/. _1 - r.(=) p.(=) Paternal (confirmed) - likely pathogenic g.100046802G>A g.99598926G>A c.-8109G>A - PRDM13_000017 - - - - Germline yes - - - - DNA SEQ-NG-I - - MCDR1 - - - M no Korea, South (Republic) Asian - - - - 1 Jinu Han
+/. _1 - r.(=) p.(=) Paternal (confirmed) - pathogenic (dominant) g.100040987G>C - c.-13924G>C - PRDM13_000017 - PubMed: Cipriani 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WGS MCDR1 GC15416 PubMed: Cipriani 2017 2-generation family, affected father/daughter F;M - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. _1 - r.(=) p.(=) Paternal (confirmed) - pathogenic (dominant) g.100040987G>C - c.-13924G>C - PRDM13_000017 - PubMed: Cipriani 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WGS MCDR1 GC3722 PubMed: Cipriani 2017 5-generation family, 12 affected F;M - United Kingdom (Great Britain) - - - - - 12 Johan den Dunnen
+/. _1 - r.(=) p.(=) Maternal (confirmed) - pathogenic (dominant) g.100040987G>C - c.-13924G>C - PRDM13_000017 - PubMed: Ellingford 2017 - - Germline yes - - - - DNA SEQ, SEQ-NG - WGS MCDR1 family PubMed: Ellingford 2017 2-generation family, affected mother/daughter F - United Kingdom (Great Britain) - - - - - 2 Johan den Dunnen
+/. _1_4_ c.-261_*819{2} r.? p.? Parent #1 - pathogenic (dominant) g.100143306_100143307ins[ATTTACTTTATGTGTTTGCATG;100020205_100143306] - 100020205-100143306dup - PRDM13_000020 123 kb duplication PubMed: Small 2016 - - Germline yes - - - - DNA SEQ, SEQ-NG - WGS macular dystrophy FamK PubMed: Small 2016 5-generation family, 17 affected (11F, 6M) F;M - Belize - - - - - 17 Johan den Dunnen
+/. - c.? r.(?) p.? Paternal (confirmed) - pathogenic g.99996220_100065140dup g.99548344_99617264dup duplication 99,996,220-100,065,1 - PRDM13_000017 heterozygous PubMed: Bowne 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ blood - retinal disease 8603 PubMed: Bowne 2016 family RFS355; four-generation family M - - - - - - - 1 LOVD
+/. - c.? r.(?) p.? Paternal (confirmed) - pathogenic g.99996220_100065140dup g.99548344_99617264dup duplication 99,996,220-100,065,1 - PRDM13_000017 heterozygous PubMed: Bowne 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ blood - retinal disease 8687 PubMed: Bowne 2016 family RFS355; four-generation family M - - - - - - - 1 LOVD
+/. - c.? r.(?) p.? Maternal (confirmed) - pathogenic g.99996220_100065140dup g.99548344_99617264dup duplication 99,996,220-100,065,1 - PRDM13_000017 heterozygous PubMed: Bowne 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ blood - retinal disease 8602 PubMed: Bowne 2016 family RFS355; four-generation family M - - - - - - - 1 LOVD
+/. - c.? r.(?) p.? Paternal (inferred) - pathogenic g.99996220_100065140dup g.99548344_99617264dup duplication 99,996,220-100,065,1 - PRDM13_000017 heterozygous PubMed: Bowne 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ blood - retinal disease 8686 PubMed: Bowne 2016 family RFS355; four-generation family M - - - - - - - 1 LOVD
+/. - c.? r.(?) p.? Maternal (confirmed) - pathogenic g.99996220_100065140dup g.99548344_99617264dup duplication 99,996,220-100,065,1 - PRDM13_000017 heterozygous PubMed: Bowne 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ blood - retinal disease 9395 PubMed: Bowne 2016 family RFS355; four-generation family F - - - - - - - 1 LOVD
+/. - c.? r.(?) p.? Paternal (inferred) - pathogenic g.99996220_100065140dup g.99548344_99617264dup duplication 99,996,220-100,065,1 - PRDM13_000017 heterozygous PubMed: Bowne 2016 - - Germline yes - - - - DNA arraySNP, SEQ-NG-I, SEQ blood - retinal disease 8688 PubMed: Bowne 2016 family RFS355; four-generation family F - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.? Maternal (inferred) - likely pathogenic g.100040987G>C g.99593111G>C variant 2 (V2) point mutation (Chr6: 99593111) - PRDM13_000017 heterozygous PubMed: Small 2019 - - Germline yes - - - - DNA ? blood retrospective study retinal disease 1 PubMed: Small 2019 family 731, patient 1 (IV:2, proband) M - United States Californian - - - - 1 LOVD
+?/. - c.? r.(?) p.? Paternal (confirmed) - likely pathogenic g.100040987G>C g.99593111G>C variant 2 (V2) point mutation (Chr6: 99593111) - PRDM13_000017 heterozygous PubMed: Small 2019 - - Germline yes - - - - DNA ? blood retrospective study retinal disease 104 PubMed: Small 2019 family 731, patient 104 (V:2, proband's son) M - United States Californian - - - - 1 LOVD
+?/. - c.? r.(?) p.? Paternal (confirmed) - likely pathogenic g.100040987G>C g.99593111G>C variant 2 (V2) point mutation (Chr6: 99593111) - PRDM13_000017 heterozygous PubMed: Small 2019 - - Germline yes - - - - DNA ? blood retrospective study retinal disease 8000 PubMed: Small 2019 family 731, patient 8000 (III:3, proband's father) M - United States Californian - - - - 1 LOVD
-/. - c.6C>T r.(?) p.(His2=) Unknown - benign g.100054916C>T g.99607040C>T PRDM13(NM_021620.4):c.6C>T (p.H2=) - PRDM13_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.70C>G r.(?) p.(Leu24Val) Unknown - VUS g.100054980C>G g.99607104C>G PRDM13(NM_021620.3):c.70C>G (p.L24V) - PRDM13_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.113C>T r.(?) p.(Ser38Leu) Unknown - likely pathogenic g.100055023C>T g.99607147C>T c.113C>T; p.S38?L - PRDM13_000021 - PubMed: Kersten 2018 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - Whole-exome sequencing retinal disease ? PubMed: Kersten 2018 - M - - - - - - - 1 LOVD
?/. 1 c.113C>T r.(?) p.(Ser38Leu) Parent #1 ACMG VUS g.100055023C>T g.99607147C>T - - PRDM13_000021 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 071999 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - - - - - - - - 1 Rebekkah Hitti-Malin
-?/. - c.134C>T r.(?) p.(Pro45Leu) Unknown - likely benign g.100055044C>T - PRDM13(NM_021620.4):c.134C>T (p.P45L) - PRDM13_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.277-19T>A r.(=) p.(=) Unknown - benign g.100057044T>A g.99609168T>A PRDM13(NM_021620.4):c.277-19T>A - PRDM13_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.397+4C>T r.spl? p.? Unknown - likely benign g.100057187C>T - PRDM13(NM_021620.4):c.397+4C>T - PRDM13_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.397+4C>T r.spl? p.? Unknown - likely benign g.100057187C>T - PRDM13(NM_021620.4):c.397+4C>T - PRDM13_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.398-2_408del r.spl p.? Both (homozygous) - pathogenic (recessive) g.100060907_100060919del g.99613031_99613043del 398-3_407delCAGGGGAGGAGCG - PRDM13_000023 - PubMed: Whittaker 2021 - - Germline yes - - - - DNA SEQ - WES NDD FamPatVI3/4 PubMed: Whittaker 2021 2-generation family, affected brother/sister, unaffected heterozygous carrier parents/relatives F;M yes Malta - - - - - 2 Johan den Dunnen
+/. - c.398-2_408del r.spl p.? Both (homozygous) - pathogenic (recessive) g.100060907_100060919del g.99613031_99613043del 398-3_407delCAGGGGAGGAGCG - PRDM13_000023 - PubMed: Whittaker 2021 - - Germline - - - - - DNA SEQ - WES NDD Pat3 PubMed: Whittaker 2021 2-generation family, 1 affected, unaffected heterozygous carrier parents/relatives M - Malta - - - - - 1 Johan den Dunnen
-?/. - c.492C>T r.(?) p.(Gly164=) Unknown - likely benign g.100061003C>T g.99613127C>T PRDM13(NM_021620.3):c.492C>T (p.G164=), PRDM13(NM_021620.4):c.492C>T (p.G164=) - PRDM13_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.492C>T r.(?) p.(Gly164=) Unknown - likely benign g.100061003C>T - PRDM13(NM_021620.3):c.492C>T (p.G164=), PRDM13(NM_021620.4):c.492C>T (p.G164=) - PRDM13_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.609C>T r.(?) p.(Ser203=) Unknown - benign g.100061120C>T g.99613244C>T PRDM13(NM_021620.3):c.609C>T (p.S203=), PRDM13(NM_021620.4):c.609C>T (p.S203=) - PRDM13_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.609C>T r.(?) p.(Ser203=) Unknown - likely benign g.100061120C>T g.99613244C>T PRDM13(NM_021620.3):c.609C>T (p.S203=), PRDM13(NM_021620.4):c.609C>T (p.S203=) - PRDM13_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.633C>A r.(?) p.(His211Gln) Unknown - likely benign g.100061144C>A g.99613268C>A PRDM13(NM_021620.4):c.633C>A (p.H211Q) - PRDM13_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.634C>G r.(?) p.(Pro212Ala) Unknown - likely benign g.100061145C>G g.99613269C>G PRDM13(NM_021620.3):c.634C>G (p.P212A) - PRDM13_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.648_651dup r.(?) p.(Val218ThrfsTer235) Unknown - VUS g.100061159_100061162dup g.99613283_99613286dup PRDM13(NM_021620.3):c.648_651dupACCA (p.V218Tfs*235) - PRDM13_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.710C>T r.(?) p.(Ala237Val) Unknown - benign g.100061221C>T g.99613345C>T PRDM13(NM_021620.3):c.710C>T (p.A237V), PRDM13(NM_021620.4):c.710C>T (p.A237V) - PRDM13_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.710C>T r.(?) p.(Ala237Val) Unknown - likely benign g.100061221C>T g.99613345C>T PRDM13(NM_021620.3):c.710C>T (p.A237V), PRDM13(NM_021620.4):c.710C>T (p.A237V) - PRDM13_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.800del r.(?) p.(Gly267AspfsTer34) Both (homozygous) - pathogenic (recessive) g.100061311del g.99613435del - - PRDM13_000024 - PubMed: Coolen 2022 - - Germline - - - - - DNA SEQ-NG - - PCH Fam4PatII3 PubMed: Coolen 2022 2-generation family, 1 affected, unaffected parents M yes - Arab 16m - - - 1 Johan den Dunnen
+?/. - c.800del r.(?) p.(Gly267AspfsTer34) Both (homozygous) - VUS g.100061311del g.99613435del - - PRDM13_000024 reported as candidate disease gene PubMed: Al-Kasbi 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES ID 10DK3900 PubMed: Al-Kasbi 2022 patient, no other affecteds in family M yes Oman - - - - - 1 Johan den Dunnen
+/. - c.839del r.(?) p.(Ala280GlyfsTer21) Both (homozygous) - pathogenic (recessive) g.100061350del g.99613474del - - PRDM13_000025 - PubMed: Coolen 2022 - - Germline yes - - - - DNA SEQ-NG - - PCH Fam1PatII1 PubMed: Coolen 2022 2-generation family, 3 affected, unaffected heterozygous carrier parents F yes Tunisia - 25m - - - 3 Johan den Dunnen
+/. - c.839del r.(?) p.(Ala280GlyfsTer21) Both (homozygous) - pathogenic (recessive) g.100061350del g.99613474del - - PRDM13_000025 - PubMed: Coolen 2022 - - Germline yes - - - - DNA SEQ-NG - - PCH Fam1PatII4 PubMed: Coolen 2022 fetus F yes Tunisia - <0d - - - 1 Johan den Dunnen
+/. - c.839del r.(?) p.(Ala280GlyfsTer21) Both (homozygous) - pathogenic (recessive) g.100061350del g.99613474del - - PRDM13_000025 - PubMed: Coolen 2022 - - Germline yes - - - - DNA SEQ-NG - - PCH Fam1PatII6 PubMed: Coolen 2022 brother M yes Tunisia - 4m - - - 1 Johan den Dunnen
+/. - c.844del r.(?) p.(Val282SerfsTer19) Both (homozygous) - pathogenic (recessive) g.100061355del g.99613479del - - PRDM13_000026 - PubMed: Coolen 2022 - - Germline yes - - - - DNA SEQ-NG - - PCH Fam2PatII1 PubMed: Coolen 2022 2-generation family, 2 affected, unaffected heterozygous carrier parents; fetus F yes Algeria - <0d - - - 2 Johan den Dunnen
+/. - c.844del r.(?) p.(Val282SerfsTer19) Both (homozygous) - pathogenic (recessive) g.100061355del g.99613479del - - PRDM13_000026 - PubMed: Coolen 2022 - - Germline yes - - - - DNA SEQ-NG - - PCH Fam2PatII2 PubMed: Coolen 2022 brother M yes Algeria - 22d - - - 1 Johan den Dunnen
-/. - c.864C>T r.(?) p.(Tyr288=) Unknown - benign g.100061375C>T g.99613499C>T PRDM13(NM_021620.3):c.864C>T (p.Y288=), PRDM13(NM_021620.4):c.864C>T (p.Y288=) - PRDM13_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.864C>T r.(?) p.(Tyr288=) Unknown - likely benign g.100061375C>T g.99613499C>T PRDM13(NM_021620.3):c.864C>T (p.Y288=), PRDM13(NM_021620.4):c.864C>T (p.Y288=) - PRDM13_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.918C>G r.(?) p.(Ala306=) Unknown - benign g.100061429C>G g.99613553C>G PRDM13(NM_021620.4):c.918C>G (p.A306=) - PRDM13_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.972C>G r.(?) p.(Leu324=) Unknown - likely benign g.100061483C>G - PRDM13(NM_021620.3):c.972C>G (p.L324=) - PRDM13_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.994G>A r.(?) p.(Gly332Arg) Unknown - benign g.100061505G>A g.99613629G>A PRDM13(NM_021620.4):c.994G>A (p.G332R) - PRDM13_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1163G>A r.(?) p.(Gly388Asp) Unknown - VUS g.100061674G>A - PRDM13(NM_021620.3):c.1163G>A (p.G388D) - PRDM13_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1224_1241del r.(?) p.(Pro409_Ala414del) Unknown - VUS g.100061735_100061752del - PRDM13(NM_021620.4):c.1224_1241del (p.(Pro409_Ala414del)) - PRDM13_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1310C>G r.(?) p.(Pro437Arg) Unknown - VUS g.100061821C>G - PRDM13(NM_021620.3):c.1310C>G (p.(Pro437Arg)) - PRDM13_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1332C>G r.(?) p.(Leu444=) Unknown - likely benign g.100061843C>G - PRDM13(NM_021620.4):c.1332C>G (p.L444=) - PRDM13_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1403A>C r.(?) p.(Glu468Ala) Unknown - likely benign g.100061914A>C g.99614038A>C PRDM13(NM_021620.3):c.1403A>C (p.E468A), PRDM13(NM_021620.4):c.1403A>C (p.E468A) - PRDM13_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1403A>C r.(?) p.(Glu468Ala) Unknown - VUS g.100061914A>C g.99614038A>C PRDM13(NM_021620.3):c.1403A>C (p.E468A), PRDM13(NM_021620.4):c.1403A>C (p.E468A) - PRDM13_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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