Full data view for gene WDR35

Information The variants shown are described using the NM_001006657.1 transcript reference sequence.

141 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.-3100G>A r.(?) p.(=) Unknown - likely benign g.20192876C>T - MATN3(NM_002381.4):c.1457G>A (p.(Arg486His)) - MATN3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+ 1 c.3G>A r.(?) p.(Met1_Ala30delinsMetfs*4) Maternal (confirmed) - likely pathogenic (recessive) g.20189774C>T g.19990013C>T - - WDR35_000054 - - - - Germline yes - - - - - - - - - - - - - - - - - - - - - -
+/. - c.25-2A>G r.spl? p.? Unknown - pathogenic g.20189045T>C g.19989284T>C WDR35(NM_001006657.1):c.25-2A>G (p.?) - MATN3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.25-2A>G r.spl? p.? Unknown - pathogenic g.20189045T>C - WDR35(NM_001006657.1):c.25-2A>G (p.?) - MATN3_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.53A>G r.(?) p.(Gln18Arg) Unknown - benign g.20189015T>C g.19989254T>C WDR35(NM_001006657.1):c.53A>G (p.Q18R) - WDR35_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.53A>G r.(?) p.(Gln18Arg) Unknown - benign g.20189015T>C g.19989254T>C WDR35(NM_001006657.1):c.53A>G (p.Q18R) - WDR35_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.206G>A r.(?) p.(Gly69Asp) Both (homozygous) - pathogenic (recessive) g.20182232C>T g.19982471C>T NM_001006657.1:c.206G>A:p.(Gly69Asp) - WDR35_000061 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 13DG0792 , 13DG0793 PubMed: Maddirevula 2018 family, 2 affected (2F) F yes - Arab - - - - 2 LOVD
+?/. 3 c.206G>A r.(?) p.(Gly69Asp) Unknown - likely pathogenic (recessive) g.20182232C>T - NM_001006657.1:c.206G>A - WDR35_000061 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R11-410A PubMed: Zhang-2019 Unsolved case: biallelic causative mutations not identify - - - South Asian - - - - 1 LOVD
+?/. - c.215-8T>G r.214_215ins215-7_215-1 p.Val74Argfs*10 Unknown ACMG likely pathogenic g.20180552A>C g.19980791A>C - - WDR35_000076 ACMG PM2, PP4, PS3 PubMed: He 2022 - - Germline/De novo (untested) - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG blood, muscle WES ? Fam3 PubMed: He 2022 - - - China - - - - - 1 Johan den Dunnen
?/. - c.286A>C r.(?) p.(Ile96Leu) Unknown - VUS g.20180473T>G g.19980712T>G WDR35(NM_001006657.1):c.286A>C (p.I96L) - WDR35_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.308G>T r.(?) p.(Gly103Val) Unknown - likely pathogenic g.20178640C>A - c.308G > T - WDR35_000072 - PubMed: Strong-2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: Strong-2020 - M - - - - - - - 1 LOVD
-?/. - c.309C>T r.(?) p.(Gly103=) Unknown - likely benign g.20178639G>A g.19978878G>A WDR35(NM_001006657.1):c.309C>T (p.(=)) - WDR35_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.323A>C r.(?) p.(Glu108Ala) Unknown - VUS g.20178625T>G - WDR35(NM_001006657.1):c.323A>C (p.(Glu108Ala)) - WDR35_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 5 c.337C>T r.(?) p.(Arg113*) Paternal (confirmed) - likely pathogenic g.20178611G>A g.19978850G>A - - WDR35_000002 - - - - Germline yes - - - - DNA SEQ blood - CED JWS_CED_2017_1 - - M no Poland Polish - - - - 1 Joanna Walczak-Sztulpa
-?/. - c.355C>T r.(?) p.(Arg119Cys) Unknown - likely benign g.20178593G>A g.19978832G>A WDR35(NM_001006657.1):c.355C>T (p.R119C, p.(Arg119Cys)) - WDR35_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.355C>T r.(?) p.(Arg119Cys) Unknown - VUS g.20178593G>A - WDR35(NM_001006657.1):c.355C>T (p.R119C, p.(Arg119Cys)) - WDR35_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.407A>T r.(?) p.(Asp136Val) Unknown - VUS g.20178541T>A - WDR35(NM_001006657.1):c.407A>T (p.D136V) - WDR35_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.437-13T>C r.(=) p.(=) Unknown - likely benign g.20175437A>G - WDR35(NM_001006657.2):c.437-13T>C - WDR35_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.497C>A r.(?) p.(Ala166Glu) Unknown - VUS g.20175364G>T g.19975603G>T WDR35(NM_001006657.1):c.497C>A (p.A166E) - WDR35_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.549C>T r.(?) p.(Tyr183=) Unknown - benign g.20175312G>A g.19975551G>A WDR35(NM_001006657.1):c.549C>T (p.Y183=) - WDR35_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.549C>T r.(?) p.(Tyr183=) Unknown - benign g.20175312G>A g.19975551G>A WDR35(NM_001006657.1):c.549C>T (p.Y183=) - WDR35_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.622G>C r.(?) p.(Ala208Pro) Paternal (inferred) - likely pathogenic g.20174343C>G - c.622G>C - WDR35_000069 - PubMed: Yamamura 2019 - - Germline - - - - - DNA SEQ-NG, PCR blood - retinal disease - PubMed: Yamamura 2019 Her father had A208P, and her mother had L712YfsTer20. novel p.A208P F no Japan Japanese - - - - 1 LOVD
-?/. - c.657C>T r.(?) p.(Tyr219=) Unknown - likely benign g.20174308G>A g.19974547G>A WDR35(NM_001006657.1):c.657C>T (p.Y219=) - WDR35_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.761T>C r.(?) p.(Met254Thr) Unknown - likely benign g.20173445A>G - WDR35(NM_001006657.2):c.761T>C (p.M254T) - WDR35_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.770T>C r.(?) p.(Val257Ala) Unknown - likely benign g.20173436A>G - WDR35(NM_001006657.1):c.770T>C (p.V257A, p.(Val257Ala)), WDR35(NM_001006657.2):c.770T>C (p.V257A) - WDR35_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.770T>C r.(?) p.(Val257Ala) Unknown - likely benign g.20173436A>G - WDR35(NM_001006657.1):c.770T>C (p.V257A, p.(Val257Ala)), WDR35(NM_001006657.2):c.770T>C (p.V257A) - WDR35_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.770T>C r.(?) p.(Val257Ala) Unknown - likely benign g.20173436A>G - WDR35(NM_001006657.1):c.770T>C (p.V257A, p.(Val257Ala)), WDR35(NM_001006657.2):c.770T>C (p.V257A) - WDR35_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.853A>T r.(?) p.(Ile285Phe) Unknown - likely benign g.20173353T>A g.19973592T>A WDR35(NM_001006657.1):c.853A>T (p.I285F, p.(Ile285Phe)), WDR35(NM_001006657.2):c.853A>T (p.I285F) - WDR35_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.853A>T r.(?) p.(Ile285Phe) Unknown - likely benign g.20173353T>A - WDR35(NM_001006657.1):c.853A>T (p.I285F, p.(Ile285Phe)), WDR35(NM_001006657.2):c.853A>T (p.I285F) - WDR35_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.853A>T r.(?) p.(Ile285Phe) Unknown - likely benign g.20173353T>A - WDR35(NM_001006657.1):c.853A>T (p.I285F, p.(Ile285Phe)), WDR35(NM_001006657.2):c.853A>T (p.I285F) - WDR35_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.932G>T r.(?) p.(Trp311Leu) Unknown - VUS g.20169317C>A g.19969556C>A - - WDR35_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.932G>T r.(?) p.(Trp311Leu) Parent #1 - pathogenic (dominant) g.20169317C>A g.19969556C>A - - WDR35_000032 - PubMed: Duran 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SRTD R10-483 PubMed: Duran 2017 - - - United States - - - - - 1 Johan den Dunnen
+/. 9 c.932G>T r.(?) p.(Trp311Leu) Unknown - pathogenic (recessive) g.20169317C>A - NM_001006657.1:c.932G>T - WDR35_000032 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R88-098A PubMed: Zhang-2019 - - - - white - - - - 1 LOVD
-?/. - c.989A>G r.(?) p.(Asn330Ser) Unknown - likely benign g.20169260T>C g.19969499T>C WDR35(NM_001006657.1):c.989A>G (p.(Asn330Ser)) - WDR35_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1058G>C r.(?) p.(Arg353Pro) Unknown - likely benign g.20166621C>G - WDR35(NM_001006657.2):c.1058G>C (p.R353P) - WDR35_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1081T>C r.(?) p.(Trp361Arg) Unknown - VUS g.20166598A>G - WDR35(NM_020779.4):c.1081T>C (p.(Trp361Arg)) - WDR35_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1089G>A r.(?) p.(Thr363=) Unknown - benign g.20166590C>T g.19966829C>T WDR35(NM_001006657.1):c.1089G>A (p.T363=), WDR35(NM_001006657.2):c.1089G>A (p.T363=) - WDR35_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1089G>A r.(?) p.(Thr363=) Unknown - likely benign g.20166590C>T - WDR35(NM_001006657.1):c.1089G>A (p.T363=), WDR35(NM_001006657.2):c.1089G>A (p.T363=) - WDR35_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1183A>T r.(?) p.(Asn395Tyr) Unknown - VUS g.20166496T>A g.19966735T>A WDR35(NM_001006657.1):c.1183A>T (p.N395Y, p.(Asn395Tyr)) - WDR35_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1183A>T r.(?) p.(Asn395Tyr) Unknown - likely benign g.20166496T>A - WDR35(NM_001006657.1):c.1183A>T (p.N395Y, p.(Asn395Tyr)) - WDR35_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 10 c.1183A>T r.(?) p.(Asn395Tyr) Unknown - likely pathogenic (recessive) g.20166496T>A - NM_001006657.1:c.1183A>T - WDR35_000018 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R10-471 PubMed: Zhang-2019 Unsolved case: biallelic causative mutations not identify - - - white - - - - 1 LOVD
-?/. - c.1215A>G r.(?) p.(Thr405=) Unknown - likely benign g.20162068T>C - WDR35(NM_001006657.2):c.1215A>G (p.T405=) - WDR35_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1226C>T r.(?) p.(Thr409Met) Unknown - likely benign g.20162057G>A g.19962296G>A WDR35(NM_001006657.1):c.1226C>T (p.(Thr409Met)) - WDR35_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1335G>A r.(?) p.(Ser445=) Unknown - likely benign g.20153693C>T g.19953932C>T WDR35(NM_001006657.1):c.1335G>A (p.S445=) - WDR35_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1363C>T r.(?) p.(Arg455Cys) Unknown - VUS g.20153665G>A - WDR35(NM_001006657.1):c.1363C>T (p.(Arg455Cys)) - WDR35_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1409G>A r.(?) p.(Arg470Gln) Unknown - likely benign g.20153619C>T - WDR35(NM_001006657.2):c.1409G>A (p.R470Q) - WDR35_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1432_1433del r.(?) p.(Arg478Asnfs*5) Unknown - pathogenic g.20153595_20153596del - WDR35(NM_001006657.2):c.1432_1433delAG (p.R478Nfs*5) - WDR35_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1433G>A r.(?) p.(Arg478Lys) Parent #1 - pathogenic (recessive) g.20153595C>T g.19953834C>T - - WDR35_000055 - PubMed: Duran 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SRTD R03-342 PubMed: Duran 2017 fetus - - United States European - - - - 1 Johan den Dunnen
+/. 13i c.1433+3A>G r.spl? p.? Unknown - pathogenic (recessive) g.20153592T>C - NM_001006657.1:c.1433+3A>G - WDR35_000070 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R88-098A PubMed: Zhang-2019 - - - - white - - - - 1 LOVD
?/. - c.1475G>A r.(?) p.(Gly492Asp) Unknown - VUS g.20151204C>T g.19951443C>T WDR35(NM_001006657.1):c.1475G>A (p.(Gly492Asp)) - WDR35_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1486dup r.(?) p.(Tyr496Leufs*2) Unknown - VUS g.20151194dup - WDR35(NM_020779.4):c.1453dup (p.(Tyr485LeufsTer2)) - WDR35_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1501del r.(?) p.(Gln501Lysfs*10) Parent #2 - pathogenic (recessive) g.20151178del g.19951417del 1501delC - WDR35_000057 - PubMed: Duran 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SRTD R10-483 PubMed: Duran 2017 - - - United States - - - - - 1 Johan den Dunnen
-?/. - c.1503+7G>T r.(=) p.(=) Unknown - likely benign g.20151169C>A g.19951408C>A WDR35(NM_001006657.2):c.1503+7G>T - WDR35_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1504-7A>G r.(=) p.(=) Unknown - likely benign g.20147985T>C - WDR35(NM_001006657.2):c.1504-7A>G - WDR35_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1552A>T r.(?) p.(Ile518Phe) Unknown - VUS g.20147930T>A - WDR35(NM_020779.4):c.1519A>T (p.(Ile507Phe)) - WDR35_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1557+3A>G r.spl? p.? Unknown - likely benign g.20147922T>C - WDR35(NM_020779.4):c.1524+3A>G - WDR35_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1557+11C>A r.(=) p.(=) Unknown - likely benign g.20147914G>T g.19948153G>T WDR35(NM_001006657.1):c.1557+11C>A, WDR35(NM_001006657.2):c.1557+11C>A - WDR35_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1557+11C>A r.(=) p.(=) Unknown - likely benign g.20147914G>T - WDR35(NM_001006657.1):c.1557+11C>A, WDR35(NM_001006657.2):c.1557+11C>A - WDR35_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1579C>T r.(?) p.(Gln527*) Parent #2 - pathogenic (recessive) g.20146310G>A g.19946549G>A - - WDR35_000056 - PubMed: Duran 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WES SRTD R03-342 PubMed: Duran 2017 fetus - - United States European - - - - 1 Johan den Dunnen
+?/. 16 c.1633C>T r.(?) p.(Arg545*) Unknown - likely pathogenic g.20146256G>A - c.1633C > T - WDR35_000071 - PubMed: Strong-2020 - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: Strong-2020 - M - - - - - - - 1 LOVD
?/. - c.1634G>A r.(?) p.(Arg545Gln) Unknown - VUS g.20146255C>T g.19946494C>T WDR35(NM_001006657.1):c.1634G>A (p.R545Q, p.(Arg545Gln)), WDR35(NM_001006657.2):c.1634G>A (p.R545Q) - WDR35_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1634G>A r.(?) p.(Arg545Gln) Unknown - likely benign g.20146255C>T g.19946494C>T WDR35(NM_001006657.1):c.1634G>A (p.R545Q, p.(Arg545Gln)), WDR35(NM_001006657.2):c.1634G>A (p.R545Q) - WDR35_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1634G>A r.(?) p.(Arg545Gln) Unknown - benign g.20146255C>T - WDR35(NM_001006657.1):c.1634G>A (p.R545Q, p.(Arg545Gln)), WDR35(NM_001006657.2):c.1634G>A (p.R545Q) - WDR35_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1670G>A r.(?) p.(Arg557His) Unknown - VUS g.20145755C>T g.19945994C>T WDR35(NM_001006657.1):c.1670G>A (p.(Arg557His)) - WDR35_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1694G>T r.(?) p.(Gly565Val) Unknown - VUS g.20145731C>A - WDR35(NM_001006657.1):c.1694G>T (p.G565V) - WDR35_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1788C>T r.(?) p.(Val596=) Unknown - likely benign g.20145637G>A - WDR35(NM_001006657.2):c.1788C>T (p.V596=) - WDR35_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1803G>A r.(?) p.(Trp601*) Unknown - pathogenic g.20145622C>T - WDR35(NM_001006657.2):c.1803G>A (p.W601*) - WDR35_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1879-19T>G r.(=) p.(=) Unknown - likely benign g.20141619A>C g.19941858A>C WDR35(NM_001006657.1):c.1879-19T>G - WDR35_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1879-11del r.(=) p.(=) Unknown - likely benign g.20141619del - WDR35(NM_001006657.2):c.1879-11delT - WDR35_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1903A>T r.(?) p.(Ile635Phe) Unknown - VUS g.20141576T>A - WDR35(NM_001006657.1):c.1903A>T (p.(Ile635Phe)) - WDR35_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1922T>G r.(?) p.(Leu641Ter) Unknown - pathogenic g.20141557A>C g.19941796A>C WDR35(NM_020779.4):c.1889T>G (p.(Leu630Ter), p.L630*) - WDR35_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/+? 18 c.1922T>G r.(?) p.(Leu641*) Paternal (confirmed) ACMG likely pathogenic (recessive) g.19941796A>C - - - WDR35_000058 - - - - Germline yes - - - - DNA SEQ-NG - - CED2 - - - M - Poland - - - - - 1 Joanna Walczak-Sztulpa
+?/+? 18 c.1922T>G r.(?) p.(Leu641*) Paternal (confirmed) ACMG likely pathogenic (recessive) g.19941796A>C - - - WDR35_000010 - - - - Germline yes - - - - DNA SEQ - - CED2 - - - M no Poland - 00y04m - - - 1 Joanna Walczak-Sztulpa
+?/+? 18 c.1922T>G r.(?) p.(Leu641*) Maternal (confirmed) ACMG likely pathogenic (recessive) g.19941796A>C - - - WDR35_000010 - - - - Germline yes - - - - DNA SEQ - - CED2 - - - F no Poland - - - - - 1 Joanna Walczak-Sztulpa
+?/+? 18 c.1922T>G r.(?) p.(Leu641*) Paternal (confirmed) ACMG likely pathogenic (recessive) g.19941796A>C - - - WDR35_000010 - - - - Germline yes - - - - DNA SEQ - - CED2 - - - F - Poland - - - - - 1 Joanna Walczak-Sztulpa
+/. 18 c.1922T>G r.(?) p.(Leu641*) Unknown - pathogenic (recessive) g.20141557A>C - NM_001006657.1:c.1922T>G - WDR35_000010 Variant published before in Li 2015 with p.Ser168Arg PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R98-468C PubMed: Zhang-2019 - - - - white - - - - 1 LOVD
+/. 18 c.1922T>G r.(?) p.(Leu641*) Unknown - pathogenic (recessive) g.20141557A>C - NM_001006657.1:c.1922T>G - WDR35_000010 Variant published before in Li 2015 with p.Ser168Arg PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R98-468D PubMed: Zhang-2019 - - - - white - - - - 1 LOVD
+/. - c.1922T>G r.(?) p.(Leu641Ter) Unknown - pathogenic g.20141557A>C - WDR35(NM_020779.4):c.1889T>G (p.(Leu630Ter), p.L630*) - WDR35_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1970A>G r.(?) p.(His657Arg) Unknown - VUS g.20138152T>C g.19938391T>C WDR35(NM_001006657.1):c.1970A>G (p.H657R) - WDR35_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2096+1G>A r.spl? p.? Unknown - likely pathogenic g.20138025C>T - WDR35(NM_020779.4):c.2063+1G>A - WDR35_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2098C>T r.(?) p.(Arg700Cys) Parent #1 - VUS g.20137706G>A g.19937945G>A - - WDR35_000053 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140196566 Germline - 2/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.2099G>A r.(?) p.(Arg700His) Unknown - VUS g.20137705C>T - WDR35(NM_001006657.1):c.2099G>A (p.(Arg700His)) - WDR35_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 20 c.2134del r.(?) p.(Leu712Tyrfs*20) Maternal (inferred) - likely pathogenic g.20137670del - c.2134delC - WDR35_000068 - PubMed: Yamamura 2020 - - Germline - - - - - DNA SEQ-NG, PCR blood - retinal disease - PubMed: Yamamura 2019 Her father had A208P, and her mother had L712YfsTer20. novel p.A208P F no Japan Japanese - - - - 1 LOVD
-?/. - c.2168A>G r.(?) p.(Lys723Arg) Unknown - likely benign g.20137636T>C g.19937875T>C WDR35(NM_001006657.1):c.2168A>G (p.K723R) - WDR35_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2182A>G r.(?) p.(Ile728Val) Unknown - likely benign g.20137622T>C - WDR35(NM_001006657.2):c.2182A>G (p.I728V) - WDR35_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2412T>G r.(?) p.(Asn804Lys) Unknown - VUS g.20136015A>C - WDR35(NM_020779.4):c.2379T>G (p.(Asn793Lys)) - WDR35_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2447+20C>T r.(=) p.(=) Unknown - likely benign g.20135960G>A - WDR35(NM_001006657.2):c.2447+20C>T - WDR35_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2491C>T r.(?) p.(Arg831Cys) Unknown - VUS g.20135321G>A g.19935560G>A WDR35(NM_001006657.1):c.2491C>T (p.(Arg831Cys)) - WDR35_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 22 c.2522A>T r.(?) p.(Asp841Val) Maternal (confirmed) - likely pathogenic g.20135290T>A g.19935529T>A - - WDR35_000001 - - - - Germline yes - - - - DNA SEQ blood - CED JWS_CED_2017_1 - - M no Poland Polish - - - - 1 Joanna Walczak-Sztulpa
+?/+? 22 c.2522A>T r.(?) p.(Asp841Val) Paternal (confirmed) - likely pathogenic (recessive) g.20135290T>A g.19935529T>A - - WDR35_000001 - - - - Germline yes - - - - - - - - - - - - - - - - - - - - - -
+?/+? 22 c.2522A>T r.(?) p.(Asp841Val) Maternal (confirmed) ACMG likely pathogenic (recessive) g.19935529T>A - - - WDR35_000001 - - - - Germline yes - - - - DNA SEQ-NG - - CED2 - - - M - Poland - - - - - 1 Joanna Walczak-Sztulpa
+?/+? 22 c.2522A>T r.(?) p.(Asp841Val) Maternal (confirmed) ACMG likely pathogenic (recessive) g.19935529T>A - - - WDR35_000001 - - - - Germline yes - - - - DNA SEQ - - CED2 - - - M no Poland - 00y04m - - - 1 Joanna Walczak-Sztulpa
+?/+? 22 c.2522A>T r.(?) p.(Asp841Val) Paternal (confirmed) ACMG likely pathogenic (recessive) g.19935529T>A - - - WDR35_000001 - - - - Germline yes - - - - DNA SEQ - - CED2 - - - F no Poland - - - - - 1 Joanna Walczak-Sztulpa
+?/+? 22 c.2522A>T r.(?) p.(Asp841Val) Maternal (confirmed) ACMG likely pathogenic (recessive) g.19935529T>A - - - WDR35_000001 - - - - Germline yes - - - - DNA SEQ - - CED2 - - - F - Poland - - - - - 1 Joanna Walczak-Sztulpa
+/. 22 c.2522A>T r.(?) p.(Asp841Val) Unknown - pathogenic (recessive) g.20135290T>A - NM_001006657.1:c.2522A>T - WDR35_000001 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R98-468C PubMed: Zhang-2019 - - - - white - - - - 1 LOVD
+/. 22 c.2522A>T r.(?) p.(Asp841Val) Unknown - pathogenic (recessive) g.20135290T>A - NM_001006657.1:c.2522A>T - WDR35_000001 - PubMed: Zhang-2019 - - Germline - - - - - DNA SEQ-NG - Exome sequencing ? R98-468D PubMed: Zhang-2019 - - - - white - - - - 1 LOVD
-/. - c.2529A>G r.(?) p.(Glu843=) Unknown - benign g.20135283T>C g.19935522T>C WDR35(NM_001006657.1):c.2529A>G (p.E843=) - WDR35_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2529A>G r.(?) p.(Glu843=) Unknown - benign g.20135283T>C g.19935522T>C WDR35(NM_001006657.1):c.2529A>G (p.E843=) - WDR35_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2557C>T r.(?) p.(Pro853Ser) Unknown - likely benign g.20135255G>A - WDR35(NM_001006657.1):c.2557C>T (p.(Pro853Ser)) - WDR35_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.2623G>A r.(?) p.(Ala875Thr) Unknown - pathogenic g.20133230C>T g.19933469C>T - - WDR35_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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