Full data view for gene CDHR1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_033100.3 transcript reference sequence.

429 entries on 5 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     
+?/. 9i_17 c.(862+1_863-1)_(*1_*4073)del r.? p.(?) Parent #2 ACMG likely pathogenic g.(85964362_85965582)_(85974378_85978450)del - - - CDHR1_000172 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 067272 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+?/. 1 c.-126_(55+1_56-1){0} r.0? p.0? Both (homozygous) ACMG likely pathogenic g.(?_85954391)_(85954572_85955249)del - c.-126_(55+1_56-1)del - CDHR1_000167 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 066683 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
-/. - c.-1C>T r.(?) p.(=) Unknown - benign g.85954516C>T g.84194760C>T CDHR1(NM_033100.4):c.-1C>T - CDHR1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 8i_17_ c.784-344_*4075{0}ins862+223_*4075inv r.? p.? Both (homozygous) - pathogenic (recessive) g.85963939_86022743delins85964584_86021446inv g.84204183_84262987delins84204828_84261690inv - - CDHR1_000163 - PubMed: de Bruijn 2023 - - Germline - - - - - DNA SEQ-NG blood Published as WGS RP 071148 PubMed: de Bruijn 2023 - - - - - - - - - 1 Suzanne de Bruijn
+/. - c.? r.(?) p.0? Unknown ACMG pathogenic g.85954517A>T - NM_001171971.2:c.1A>T - CDHR1_000048 - 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
+?/. - c.? r.(?) p.(Gly276Asp) Unknown ACMG likely pathogenic g.85964326G>A - NM_001171971.2:c.827G>A - CDHR1_000045 - 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
+?/. - c.? r.(?) p.(Val458Asp) Unknown ACMG likely pathogenic g.85970809T>A - NM_001171971.2:c.1373T>A - CDHR1_000045 - 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
+/. - c.? r.(?) p.(Gln461*) Unknown ACMG pathogenic g.85970817C>T - NM_001171971.2:c.1381C>T - CDHR1_000049 - 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
+/. - c.? r.spl p.? Unknown ACMG pathogenic g.85970923T>G - NM_001171971.2:c.1485+2T>G - CDHR1_000045 - 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
+/. - c.? r.(?) p.(Thr696Serfs*3) Unknown ACMG pathogenic g.85978881_85978884del - NM_001171971.2:c.2087_2090del - CDHR1_000051 - 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
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - p.Gly113Alafs*1 - CYP2C9_001038 - PubMed: Arno-2016 - - Germline - - - - - DNA PE, PCR, SEQ blood - retinal disease - PubMed: Arno-2016 - - no - Middle East - - - - 4 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - p.Gln175Glnfs*47 - CYP2C9_001038 - PubMed: Arno-2016 - - Germline - - - - - DNA PE, PCR, SEQ blood - retinal disease - PubMed: Arno-2016 2 excluded from analysis as coincident oculocutaneus albinism. - no - Faroe Islands - - - - 6 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? - p.Gln461* - CYP2C9_001038 - PubMed: Arno-2016 - - Germline - - - - - DNA PE, PCR, SEQ blood - retinal disease - PubMed: Arno-2016 - - no - Paalestinian, Muslim - - - - 3 LOVD
+?/. - c.? r.spl p.(?) Both (homozygous) - likely pathogenic g.? g.? CDHR1 Deletion of the first six coding exons - CYP2C9_001038 homozygous PubMed: Méjécase 2020 - - Unknown ? - - - - DNA SEQ-NG - retrospective case note review, targeted gene panel testing retinal disease 16 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - - - - 1 LOVD
+?/. - c.1A>G r.(?) p.(Met1?) Unknown - likely pathogenic g.85954517A>G g.84194761A>G c.1A>G, p.Met1? - CDHR1_000133 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 003-065 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.1A>G r.spl p.(Met1?) Unknown - likely pathogenic g.85954517A>G g.84194761A>G CDHR1 c.1A>G p.(Met1?) - CDHR1_000133 heterozygous PubMed: Ba-Abbad 2021 - - Germline/De novo (untested) - - - - - DNA ? - - retinal disease 5 PubMed: Ba-Abbad 2021 family GC20637, individual 5 M - - - - - - - 1 LOVD
+/. - c.1A>G r.(?) p.? Unknown - pathogenic g.85954517A>G - - - CDHR1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.1A>T r.(?) p.(Met1?) Both (homozygous) - pathogenic g.85954517A>T g.84194761A>T - - CDHR1_000048 - Sharon, submitted - - Germline - - - - - DNA SEQ - - retinal disease - Sharon, submitted - M yes Israel Druze - - - - 2 Dror Sharon
+?/. - c.1A>T r.(?) p.(Met1?) Both (homozygous) - likely pathogenic (recessive) g.85954517A>T - 1T>G (M1L) - CDHR1_000048 - PubMed: Beryozkin 2015 - - Germline - - - - - DNA SEQ - - retinal disease MOL1275 PubMed: Beryozkin 2015 family - - Israel Druze - - - - 1 Johan den Dunnen
+?/. - c.18G>A r.(?) p.(Trp6*) Paternal (inferred) - likely pathogenic g.85954534G>A g.84194778G>A CDHR1 c.18G>A - CDHR1_000152 heterozygous PubMed: Chabel Issa 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood panel of 48 macular and cone/cone-rod dystrophy genes retinal disease 3 PubMed: Chabel Issa 2019 - F - - - - - - - 1 LOVD
+?/. - c.18G>A r.(?) p.(Trp6*) Paternal (inferred) - likely pathogenic g.85954534G>A g.84194778G>A CDHR1 c.18G>A - CDHR1_000152 heterozygous PubMed: Chabel Issa 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood panel of 48 macular and cone/cone-rod dystrophy genes retinal disease 3 PubMed: Chabel Issa 2019 - F - - - - - - - 1 LOVD
?/. - c.41T>A r.(?) p.(Leu14Gln) Unknown - VUS g.85954557T>A - - - CDHR1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.56-1G>A r.spl p.(?) Parent #1 - likely pathogenic g.85955249G>A g.84195493G>A CDHR1, variant 1: c.56-1G>A/p.?, variant 2: c.56-1G>A/p.? - CDHR1_000138 different transcript described in the paper: NM_001171971.2, solved, homozygous PubMed: Weisschuh 2020 - - Germline yes - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 85 PubMed: Weisschuh 2020 Filing key number: 43, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.56-1G>A r.spl p.? Both (homozygous) - pathogenic g.85955249G>A g.84195493G>A CDHR1 c.56-1 G >A, p.? - CDHR1_000138 homozygous PubMed: Stingl 2017 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood targeted panel: 105 retinal disease genes retinal disease famCpatII:1 PubMed: Stingl 2017 Family C M - Germany - - - - - 1 LOVD
-?/. - c.72C>A r.(?) p.(Ala24=) Unknown - likely benign g.85955266C>A - CDHR1(NM_033100.4):c.72C>A (p.A24=) - CDHR1_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.106A>G r.(?) p.(Asn36Asp) Unknown - VUS g.85955300A>G g.84195544A>G A106G - CDHR1_000120 - PubMed: Katagiri 2014 - rs200661366 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#030 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. - c.109G>C r.(?) p.(Gly37Arg) Unknown - VUS g.85955303G>C - - - CDHR1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.140A>C r.(?) p.(Asp47Ala) Unknown - VUS g.85955334A>C g.84195578A>C - - CDHR1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.143C>A r.(?) p.(Thr48Asn) Unknown - VUS g.85955337C>A g.84195581C>A CDHR1(NM_033100.4):c.143C>A (p.T48N) - CDHR1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 2 c.143C>A r.(?) p.(Thr48Asn) Parent #1 ACMG VUS g.85955337C>A g.84195581C>A - - CDHR1_000078 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 067254 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
?/. 2 c.143C>A r.(?) p.(Thr48Asn) Parent #1 ACMG VUS g.85955337C>A g.84195581C>A - - CDHR1_000078 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 073118 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
?/. 2 c.151G>A r.(?) p.(Gly51Ser) Parent #2 ACMG VUS g.85955345G>A g.84195589G>A - - CDHR1_000168 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 072104 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. 2i c.152-2A>G r.spl p.? Parent #2 - likely pathogenic g.85956259A>G g.84196503A>G CDHR1 c.783G>A c.152-2A>G - CDHR1_000153 heterozygous PubMed: Bessette 2018 - - Germline yes - - - - DNA ? - retrospective case series retinal disease Case 3 PubMed: Bessette 2018 sister of Case 4 F - - white: Irish, Polish - - - - 1 LOVD
+?/. 2i c.152-2A>G r.spl p.? Parent #2 - likely pathogenic g.85956259A>G g.84196503A>G CDHR1 c.783G>A c.152-2A>G - CDHR1_000153 heterozygous PubMed: Bessette 2018 - - Germline yes - - - - DNA ? - retrospective case series retinal disease Case 4 PubMed: Bessette 2018 sister of Case 3 F - - white: Irish, Polish - - - - 1 LOVD
?/. - c.155C>T r.(?) p.(Ser52Phe) Unknown - VUS g.85956264C>T g.84196508C>T CDHR1(NM_033100.4):c.155C>T (p.S52F) - CDHR1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.155C>T r.(?) p.(Ser52Phe) Unknown - pathogenic g.85956264C>T g.84196508C>T - - CDHR1_000006 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat11 PubMed: Costa 2017 - F - Brazil - - - - - 1 LOVD
?/. - c.159C>A r.(?) p.(His53Gln) Parent #1 - VUS g.85956268C>A g.84196512C>A - - CDHR1_000076 82 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12781048 Germline - 82/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 82 Mohammed Faruq
?/. - c.159C>A r.(?) p.(His53Gln) Both (homozygous) - VUS g.85956268C>A g.84196512C>A - - CDHR1_000076 2 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs12781048 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.159C>T r.(?) p.(=) Unknown - likely benign g.85956268C>T - CDHR1(NM_033100.4):c.159C>T (p.H53=) - CDHR1_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.231dup Thr77ins1acT p.(Arg78*) Parent #2 - likely pathogenic g.85956340dup g.84196584dup 230_231insT - CDHR1_000099 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 344 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
-?/. - c.240C>T r.(?) p.(Val80=) Unknown - likely benign g.85956349C>T g.84196593C>T CDHR1(NM_033100.4):c.240C>T (p.V80=) - CDHR1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.270dup r.(?) p.(Thr91Hisfs*4) Both (homozygous) - VUS g.85956379dup g.84196623dup 270dupC - CDHR1_000110 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13002976 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
?/. - c.283G>A r.(?) p.(Glu95Lys) Unknown - VUS g.85956392G>A g.84196636G>A CDHR1(NM_033100.4):c.283G>A (p.E95K) - CDHR1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.295del r.(?) p.(Glu99Argfs*16) Unknown - pathogenic g.85956404del g.84196648del CDHR1 c.295del, p.Glu99ArgfsTer16 - CDHR1_000134 Predicted to alter splicing (PP3), which moves it from likely path to path. Unable to find in ClinVar or HGMD, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease 003-065 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.296A>G r.(?) p.(Glu99Gly) Parent #1 - likely pathogenic g.85956405A>G g.84196649A>G CDHR1, variant 1: c.296A>G/p.E99G, variant 2: c.296A>G/p.E99G - CDHR1_000139 different transcript described in the paper: NM_001171971.2, possibly solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET4 targeted sequencing panel - see paper retinal disease 643 PubMed: Weisschuh 2020 Filing key number: 230, macular dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. - c.296A>G r.(?) p.(Glu99Gly) Both (homozygous) - VUS g.85956405A>G g.84196649A>G CDHR1 c.296 A >G, p.E99G - CDHR1_000139 homozygous PubMed: Stingl 2017 - - Germline yes - - - - DNA SEQ-NG-I, SEQ blood targeted panel: 105 retinal disease genes retinal disease famEpatII:1 PubMed: Stingl 2017 Family E M - Germany - - - - - 1 LOVD
?/. - c.296A>G r.(?) p.(Glu99Gly) Unknown - VUS g.85956405A>G - - - CDHR1_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.296A>G r.(?) p.(Glu99Gly) Both (homozygous) ACMG VUS g.85956405A>G g.84196649A>G - - CDHR1_000139 ACMG PP3, PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? MDS-228 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
?/. 3 c.296A>G r.(?) p.(Glu99Gly) Parent #1 ACMG VUS g.85956405A>G g.84196649A>G - - CDHR1_000139 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 067272 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.297+1G>T r.spl p.? Maternal (confirmed) - likely pathogenic g.85956407G>T g.84196651G>T CDHR1 c.297+1G>T - CDHR1_000159 heterozygous PubMed: Ba-Abbad 2021 - - Germline yes - - - - DNA ? - - retinal disease 4 PubMed: Ba-Abbad 2021 family GC26837, individual 4 M - - - - - - - 1 LOVD
+?/. - c.337delG r.(?) p.(Gly113Alafs*2) Both (homozygous) - likely pathogenic (recessive) g.85957582del g.84197826del PCDH21 c.337delG (p.G113AfsX1) - CDHR1_000009 error in annotation: most 3’ nucleotide in a polynucleotide stretch rule switches the annotation from c.337delG to c.338delG; homozygo PubMed: Henderson 2010 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease IV:2 PubMed: Henderson 2010 Family 1, proband F - - - - - - - 1 LOVD
+?/. - c.337delG r.(?) p.(Gly113Alafs*2) Both (homozygous) - likely pathogenic (recessive) g.85957582del g.84197826del PCDH21 c.337delG (p.G113AfsX1) - CDHR1_000009 error in annotation: most 3’ nucleotide in a polynucleotide stretch rule switches the annotation from c.337delG to c.338delG; homozygo PubMed: Henderson 2010 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease IV:8 PubMed: Henderson 2010 Family 1, proband's brother 3 M - - - - - - - 1 LOVD
+?/. - c.337delG r.(?) p.(Gly113Alafs*2) Both (homozygous) - likely pathogenic (recessive) g.85957582del g.84197826del PCDH21 c.337delG (p.G113AfsX1) - CDHR1_000009 error in annotation: most 3’ nucleotide in a polynucleotide stretch rule switches the annotation from c.337delG to c.338delG; homozygo PubMed: Henderson 2010 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease IV:9 PubMed: Henderson 2010 Family 1, proband's sister F - - - - - - - 1 LOVD
+?/. - c.337delG r.(?) p.(Gly113Alafs*2) Both (homozygous) - likely pathogenic (recessive) g.85957582del g.84197826del PCDH21 c.337delG (p.G113AfsX1) - CDHR1_000009 error in annotation: most 3’ nucleotide in a polynucleotide stretch rule switches the annotation from c.337delG to c.338delG; homozygo PubMed: Henderson 2010 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease IV:10 PubMed: Henderson 2010 Family 1, proband's brother 4 M - - - - - - - 1 LOVD
+/. - c.338del r.(?) p.(Gly113AlafsTer2) Unknown - pathogenic g.85957582del g.84197826del CDHR1(NM_033100.4):c.338delG (p.G113Afs*2) - CDHR1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.338del r.(?) p.(Gly113Alafs*2) Both (homozygous) ACMG pathogenic (recessive) g.85957582del g.84197826del NM_033100.3:c.338del;p.(Gly113Alafs*2) - CDHR1_000009 - PubMed: Patel 2018 - - Germline yes - - - - DNA SEQ-NG - WES retinal disease 09DG01682 PubMed: Patel 2018 - - yes Palestine - - - - - 1 LOVD
+?/. - c.348+2T>A r.spl? p.? Unknown - likely pathogenic g.85957594T>A g.84197838T>A CDHR1(NM_033100.4):c.348+2T>A - CDHR1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.348+10C>T r.(=) p.(=) Unknown - benign g.85957602C>T g.84197846C>T CDHR1(NM_033100.4):c.348+10C>T - CDHR1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.364G>A r.(?) p.(Val122Met) Unknown - VUS g.85958803G>A g.84199047G>A CDHR1(NM_033100.4):c.364G>A (p.V122M) - CDHR1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.379G>A r.(?) p.(Asp127Asn) Unknown - VUS g.85958818G>A g.84199062G>A CDHR1(NM_033100.4):c.379G>A (p.D127N) - CDHR1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 5 c.383C>G r.(?) p.(Ala128Gly) Both (homozygous) - pathogenic g.85958822C>G g.84199066C>G NM_001171971.1:c.383C>G - CDHR1_000001 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ - - COD - PubMed: Abu-Safieh-2013 - - - - - - - - - 1 Leen Abu Safieh
+?/. - c.386A>G r.(?) p.(Asn129Ser) Both (homozygous) - likely pathogenic g.85958825A>G g.84199069A>G - - CDHR1_000115 - PubMed: Oishi 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease K6140 PubMed: Oishi 2016 2-generation family, 1 affected F - Japan - - - - - 1 LOVD
?/. - c.386A>G r.(?) p.(Asn129Ser) Unknown ACMG VUS g.85958825A>G g.84199069A>G CDHR1 c.A386G, p.N129S - CDHR1_000115 marked as possibly causative, single heterozygous change in a recessive gene, heterozygous PubMed: Ma 2021 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ - whole exome sequencing retinal disease 42 PubMed: Ma 2021 - ? - Korea - - - - - 1 LOVD
+?/. - c.398C>G r.(?) p.(Pro133Arg) Parent #1 - likely pathogenic (recessive) g.85958837C>G g.84199081C>G - - CDHR1_000111 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case26007 PubMed: Tiwari 2016 - - - Switzerland - - - - - 1 LOVD
-?/. - c.402G>T r.(?) p.(Arg134Ser) Unknown - likely benign g.85958841G>T g.84199085G>T CDHR1(NM_033100.4):c.402G>T (p.R134S) - CDHR1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.408C>T r.(?) p.(Ile136=) Unknown - likely benign g.85958847C>T - CDHR1(NM_033100.4):c.408C>T (p.I136=) - CDHR1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.416C>G r.(?) p.(Pro139Arg) Unknown - VUS g.85958855C>G g.84199099C>G - - CDHR1_000112 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71927 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
+?/. - c.420T>A r.(?) p.(Tyr140*) Unknown - likely pathogenic g.85958859T>A g.84199103T>A NM_033100.3:c.420T>A; p.Tyr140* - CDHR1_000125 - PubMed: Nair 2018 - - Unknown ? - - - - DNA SEQ-NG-I - whole exome sequencing PGBM1 ? PubMed: Nair 2018 - ? - Lebanon - - - - - 1 LOVD
+?/. - c.438+1G>A r.spl p.? Maternal (confirmed) - likely pathogenic g.85958878G>A g.84199122G>A CDHR1 c.438+1G>A - CDHR1_000154 heterozygous PubMed: Chabel Issa 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood panel of 48 macular and cone/cone-rod dystrophy genes retinal disease 3 PubMed: Chabel Issa 2019 - F - - - - - - - 1 LOVD
+?/. - c.438+1G>A r.spl p.? Maternal (confirmed) - likely pathogenic g.85958878G>A g.84199122G>A CDHR1 c.438+1G>A - CDHR1_000154 heterozygous PubMed: Chabel Issa 2019 - - Germline yes - - - - DNA SEQ-NG, SEQ blood panel of 48 macular and cone/cone-rod dystrophy genes retinal disease 3 PubMed: Chabel Issa 2019 - F - - - - - - - 1 LOVD
+?/. - c.439-17G>A r.spl p.? Parent #2 - likely pathogenic (recessive) g.85960340G>A g.84200584G>A - - CDHR1_000113 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case26007 PubMed: Tiwari 2016 - - - Switzerland - - - - - 1 LOVD
+?/. - c.476C>A r.(?) p.(Ala159Glu) Unknown - likely pathogenic g.85960394C>A g.84200638C>A - - CDHR1_000117 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 08DG-00234 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. 6 c.476C>A r.(?) p.(Ala159Glu) Unknown - likely pathogenic g.85960394C>A g.84200638C>A CDHR1 Ex.6 c.476C>A p.(Ala159Glu), IVS13 c.1485+2T>C p.(?) - CDHR1_000117 compound heterozygous PubMed: Martin Merida 2019 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I - - retinal disease RP-1393 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
-/. - c.477A>G r.(?) p.(Ala159=) Unknown - benign g.85960395A>G g.84200639A>G CDHR1(NM_033100.4):c.477A>G (p.A159=) - CDHR1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.477A>G r.(?) p.(Ala159=) Unknown - benign g.85960395A>G g.84200639A>G CDHR1(NM_033100.4):c.477A>G (p.A159=) - CDHR1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.512C>G r.(?) p.(Thr171Ser) Unknown - VUS g.85960430C>G g.84200674C>G - - CDHR1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.523C>T r.(?) p.(Gln175Ter) Unknown - pathogenic g.85960441C>T g.84200685C>T CDHR1(NM_033100.4):c.523C>T (p.Q175*) - CDHR1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.523C>T r.(?) p.(Gln175Ter) Unknown - pathogenic g.85960441C>T g.84200685C>T CDHR1(NM_033100.4):c.523C>T (p.Q175*) - CDHR1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.524dup r.(?) p.(Asn176Glufs*48) Both (homozygous) - likely pathogenic g.85960442dup g.84200686dup 523_524insA - CDHR1_000100 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 7 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.524dup r.(?) p.(Asn176Glufs*48) Parent #1 - likely pathogenic g.85960442dup g.84200686dup 524_525insA - CDHR1_000100 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 260 PubMed: Stone 2017 family, 2 affected F - (United States) - - - - - 2 LOVD
+/. - c.524dup r.(?) p.(Asn176Glufs*48) Unknown ACMG pathogenic g.85960442dup g.84200686dup CDHR1 c.524dup, p.(Asn176Glufs*48) - CDHR1_000100 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 373 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.524dup r.(?) p.(Asn176Glufs*48) Unknown - pathogenic g.85960442dup g.84200686dup c.524dup, p.Asn176GlufsTer48 - CDHR1_000100 heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, SEQ blood - retinal disease OGI1048_002075 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+/. 6 c.524dupA r.(?) p.(Asn176Glufs*48) Both (homozygous) - pathogenic g.85960442dupA - PCDH21: c.524dupA - CDHR1_000122 - PubMed: Ostergaard 2010 - - Germline - - - - - DNA, RNA PCR blood, cultured fibroblasts - retinal disease - PubMed: Ostergaard 2010 - M yes Faroe Islands faroese - - - - 1 LOVD
+/. 6 c.524dupA r.(?) p.(Asn176Glufs*48) Both (homozygous) - pathogenic g.85960442dupA - PCDH21: c.524dupA - CDHR1_000122 - PubMed: Ostergaard 2010 - - Germline - - - - - DNA, RNA PCR blood, cultured fibroblasts - retinal disease - PubMed: Ostergaard 2010 - F yes Faroe Islands faroese - - - - 1 LOVD
+/. 6 c.524dupA r.(?) p.(Asn176Glufs*48) Both (homozygous) - pathogenic g.85960442dupA - PCDH21: c.524dupA - CDHR1_000122 - PubMed: Ostergaard 2010 - - Germline - - - - - DNA, RNA PCR blood, cultured fibroblasts - retinal disease - PubMed: Ostergaard 2010 - M yes Faroe Islands faroese - - - - 1 LOVD
+/. 6 c.524dupA r.(?) p.(Asn176Glufs*48) Both (homozygous) - pathogenic g.85960442dupA - PCDH21: c.524dupA - CDHR1_000122 - PubMed: Ostergaard 2010 - - Germline - - - - - DNA, RNA PCR blood, cultured fibroblasts - retinal disease - PubMed: Ostergaard 2010 - F yes Faroe Islands faroese - - - - 1 LOVD
+/. 6 c.524dupA r.(?) p.(Asn176Glufs*48) Both (homozygous) - pathogenic g.85960442dupA - PCDH21: c.524dupA - CDHR1_000122 - PubMed: Ostergaard 2010 - - Germline - - - - - DNA, RNA PCR blood, cultured fibroblasts - retinal disease - PubMed: Ostergaard 2010 - M yes Faroe Islands faroese - - - - 1 LOVD
+/. 6 c.524dupA r.(?) p.(Asn176Glufs*48) Both (homozygous) - pathogenic g.85960442dupA - PCDH21: c.524dupA - CDHR1_000122 - PubMed: Ostergaard 2010 - - Germline - - - - - DNA, RNA PCR blood, cultured fibroblasts - retinal disease - PubMed: Ostergaard 2010 - F yes Faroe Islands faroese - - - - 1 LOVD
-?/. - c.526-7C>G r.(=) p.(=) Unknown - likely benign g.85961556C>G g.84201800C>G CDHR1(NM_033100.4):c.526-7C>G - CDHR1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.526-7C>G r.(=) p.(=) Unknown - likely benign g.85961556C>G g.84201800C>G CDHR1(NM_033100.4):c.526-7C>G - CDHR1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.547G>A r.(?) p.(Val183Met) Unknown - benign g.85961584G>A g.84201828G>A CDHR1(NM_033100.4):c.547G>A (p.V183M) - CDHR1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.553C>T r.(?) p.(Arg185Cys) Unknown - VUS g.85961590C>T g.84201834C>T CDHR1(NM_033100.4):c.553C>T (p.R185C) - CDHR1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.556C>T r.(?) p.(His186Tyr) Unknown - VUS g.85961593C>T g.84201837C>T CDHR1(NM_033100.4):c.556C>T (p.H186Y) - CDHR1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.556C>T r.(?) p.(His186Tyr) Unknown - VUS g.85961593C>T g.84201837C>T CDHR1(NM_033100.4):c.556C>T (p.H186Y) - CDHR1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.556C>T r.(?) p.(His186Tyr) Unknown ACMG VUS g.85961593C>T g.84201837C>T CDHR1:NM_001171971 c.C556T, p.H186Y - CDHR1_000016 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-289 PubMed: Rodriguez-Munoz 2020 family fRPN-132, proband M - Spain - - - - - 1 LOVD
-?/. - c.561C>T r.(?) p.(Ser187=) Unknown - likely benign g.85961598C>T g.84201842C>T CDHR1(NM_033100.4):c.561C>T (p.S187=) - CDHR1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.562G>A r.(?) p.(Gly188Ser) Unknown - likely pathogenic g.85961599G>A g.84201843G>A CDHR1 c.562G>A, p.(Gly188Ser) - CDHR1_000160 heterozygous PubMed: Ba-Abbad 2021 - - Germline yes - - - - DNA ? - - retinal disease 1-a PubMed: Ba-Abbad 2021 family GC17748, individual 1-a F - - - - - - - 1 LOVD
+?/. - c.562G>A r.(?) p.(Gly188Ser) Unknown - likely pathogenic g.85961599G>A g.84201843G>A CDHR1 c.562G>A, p.(Gly188Ser) - CDHR1_000160 heterozygous PubMed: Ba-Abbad 2021 - - Germline yes - - - - DNA ? - - retinal disease 1-b PubMed: Ba-Abbad 2021 family GC17748, individual 1-b F - - - - - - - 1 LOVD
+?/. - c.562G>A r.(?) p.(Gly188Ser) Unknown - likely pathogenic g.85961599G>A g.84201843G>A CDHR1 c.562G>A, p.(Gly188Ser) - CDHR1_000160 heterozygous PubMed: Ba-Abbad 2021 - - Germline/De novo (untested) - - - - - DNA ? - - retinal disease 2 PubMed: Ba-Abbad 2021 family GC26788, individual 2 M - - - - - - - 1 LOVD
?/. 7 c.562G>A r.(?) p.(Gly188Ser) Parent #1 ACMG VUS g.85961599G>A g.84201843G>A - - CDHR1_000160 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 071082 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
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