Full data view for gene RPGRIP1L

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_015272.2 transcript reference sequence.

259 entries on 3 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.-393T>C r.(?) p.(=) Unknown - VUS g.53738100A>G - FTO(NM_001080432.3):c.4A>G (p.K2E) - RPGRIP1L_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.19G>A r.(?) p.(Glu7Lys) Unknown - VUS g.53734617C>T - RPGRIP1L(NM_015272.5):c.19G>A (p.(Glu7Lys)) - RPGRIP1L_000176 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.86-2A>G r.86_230del p.? Paternal (confirmed) - pathogenic g.53730209T>C g.53696297T>C - - RPGRIP1L_000106 - PubMed: Suzuki 2016 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES JBTS Fam23 PubMed: Suzuki 2016 - - no Japan - - - - - 1 LOVD
-?/. - c.106A>G r.(?) p.(Met36Val) Unknown - likely benign g.53730187T>C - RPGRIP1L(NM_015272.5):c.106A>G (p.M36V) - RPGRIP1L_000160 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.123A>G r.(?) p.(Ala41=) Unknown - likely benign g.53730170T>C - RPGRIP1L(NM_015272.5):c.123A>G (p.A41=) - RPGRIP1L_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.140G>A r.(?) p.(Arg47His) Unknown - VUS g.53730153C>T - RPGRIP1L(NM_015272.4):c.140G>A (p.R47H) - RPGRIP1L_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.144G>C r.(?) p.(Glu48Asp) Unknown - VUS g.53730149C>G - RPGRIP1L(NM_015272.5):c.144G>C (p.(Glu48Asp)) - RPGRIP1L_000175 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.167G>A r.(?) p.(Arg56His) Unknown - VUS g.53730126C>T g.53696214C>T RPGRIP1L(NM_015272.4):c.167G>A (p.R56H) - RPGRIP1L_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.171G>T r.(?) p.(Leu57Phe) Parent #1 - likely pathogenic (recessive) g.53730122C>A g.53696210C>A - - RPGRIP1L_000104 - PubMed: Bryant 2018 - rs146925098 Germline - - - - - DNA SEQ-NG - WES retinal disease JB43 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
?/. - c.171G>T r.(?) p.(Leu57Phe) Unknown ACMG VUS g.53730122C>A g.53696210C>A - - RPGRIP1L_000104 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1205 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. - c.196C>A r.(?) p.(Gln66Lys) Unknown - VUS g.53730097G>T g.53696185G>T - - RPGRIP1L_000103 - PubMed: Bryant 2018 - rs751444506 Germline - - - - - DNA SEQ-NG - WES retinal disease JB40 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+/. - c.196C>T r.(?) p.(Gln66Ter) Unknown - pathogenic g.53730097G>A g.53696185G>A RPGRIP1L(NM_015272.4):c.196C>T (p.Q66*) - RPGRIP1L_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.206G>A r.(?) p.(Arg69His) Unknown - likely benign g.53730087C>T - RPGRIP1L(NM_001127897.1):c.206G>A (p.(Arg69His)) - RPGRIP1L_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.230+711A>T r.(=) p.(=) Unknown - likely benign g.53729352T>A - RPGRIP1L(NM_001328422.2):c.249A>T (p.(Arg83Ser)) - RPGRIP1L_000166 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.230+820T>C r.(=) p.(=) Unknown - likely benign g.53729243A>G - RPGRIP1L(NM_001328422.2):c.358T>C (p.(Cys120Arg)) - RPGRIP1L_000165 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.231-2A>G r.231_529del p.? Maternal (confirmed) - pathogenic g.53726278T>C g.53692366T>C - - RPGRIP1L_000105 - PubMed: Suzuki 2016 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES JBTS Fam23 PubMed: Suzuki 2016 - - no Japan - - - - - 1 LOVD
-?/. - c.324G>C r.(?) p.(Met108Ile) Unknown - likely benign g.53726183C>G - RPGRIP1L(NM_001127897.1):c.324G>C (p.(Met108Ile)) - RPGRIP1L_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.394A>T r.(394a>u) p.(Arg132*) Unknown - pathogenic (recessive) g.53726113T>A g.53692201T>A R132X - RPGRIP1L_000013 - - - rs121918201 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.394A>T r.(?) p.(Arg132*) Both (homozygous) - pathogenic (recessive) g.53726113T>A g.53692201T>A - - RPGRIP1L_000013 - PubMed: Delous 2007 - - Germline yes - - - - DNA SEQ - - MKS F1MKS03/107 PubMed: Delous 2007 family, 2 affected fetuses - yes Morocco - <00y00m00d - - - 2 Johan den Dunnen
+/. - c.394A>T r.(?) p.(Arg132*) Both (homozygous) - pathogenic (recessive) g.53726113T>A g.53692201T>A - - RPGRIP1L_000013 - PubMed: Delous 2007 - - Germline yes - - - - DNA SEQ - - MKS F1MKS04/428 PubMed: Delous 2007 2nd fetus - yes Morocco - <00y00m00d - - - 1 Johan den Dunnen
?/. - c.418C>T r.(?) p.(Leu140Phe) Unknown - VUS g.53726089G>A g.53692177G>A RPGRIP1L(NM_015272.4):c.418C>T (p.L140F) - RPGRIP1L_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.444T>C r.(?) p.(Thr148=) Unknown - likely benign g.53726063A>G - RPGRIP1L(NM_015272.5):c.444T>C (p.T148=) - RPGRIP1L_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.466C>T r.(?) p.(Arg156Cys) Unknown - VUS g.53726041G>A - RPGRIP1L(NM_001127897.1):c.466C>T (p.(Arg156Cys)) - RPGRIP1L_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.482G>A r.(?) p.(Arg161His) Unknown - likely benign g.53726025C>T - RPGRIP1L(NM_015272.5):c.482G>A (p.R161H) - RPGRIP1L_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.529+17G>A r.(=) p.(=) Unknown - benign g.53725961C>T g.53692049C>T RPGRIP1L(NM_001308334.3):c.529+17G>A - RPGRIP1L_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.529+64C>A r.(=) p.(=) Unknown - benign g.53725914G>T g.53692002G>T RPGRIP1L(NM_015272.5):c.529+64C>A - RPGRIP1L_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.529+64del r.(=) p.(=) Unknown - benign g.53725914del g.53692002del RPGRIP1L(NM_015272.5):c.529+64delC - RPGRIP1L_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.530-15T>C r.(=) p.(=) Unknown - likely benign g.53721892A>G g.53687980A>G RPGRIP1L(NM_001308334.3):c.530-15T>C, RPGRIP1L(NM_015272.5):c.530-15T>C - RPGRIP1L_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.530-15T>C r.(=) p.(=) Unknown - benign g.53721892A>G g.53687980A>G RPGRIP1L(NM_001308334.3):c.530-15T>C, RPGRIP1L(NM_015272.5):c.530-15T>C - RPGRIP1L_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.532A>G r.(?) p.(Ile178Val) Unknown - likely benign g.53721875T>C g.53687963T>C RPGRIP1L(NM_001308334.3):c.532A>G (p.I178V), RPGRIP1L(NM_015272.5):c.532A>G (p.I178V) - RPGRIP1L_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.532A>G r.(?) p.(Ile178Val) Unknown - benign g.53721875T>C - RPGRIP1L(NM_001308334.3):c.532A>G (p.I178V), RPGRIP1L(NM_015272.5):c.532A>G (p.I178V) - RPGRIP1L_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.628A>G r.(?) p.(Asn210Asp) Parent #2 - likely pathogenic (recessive) g.53721779T>C g.53687867T>C - - RPGRIP1L_000102 - PubMed: Bryant 2018 - rs146584570 Germline - - - - - DNA SEQ-NG - WES retinal disease JB43 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
?/. - c.628A>G r.(?) p.(Asn210Asp) Unknown ACMG VUS g.53721779T>C g.53687867T>C - - RPGRIP1L_000102 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1205 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
-/. - c.632+16del r.(=) p.(=) Unknown - benign g.53721764del g.53687852del RPGRIP1L(NM_015272.5):c.632+16delT - RPGRIP1L_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.633-14G>C r.(=) p.(=) Unknown - likely benign g.53720502C>G - RPGRIP1L(NM_001330538.2):c.633-14G>C - RPGRIP1L_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.640G>A r.(?) p.(Val214Ile) Unknown - likely benign g.53720481C>T g.53686569C>T RPGRIP1L(NM_001308334.3):c.640G>A (p.V214I) - RPGRIP1L_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.659G>A r.(?) p.(Gly220Asp) Unknown - likely benign g.53720462C>T g.53686550C>T RPGRIP1L(NM_001308334.3):c.659G>A (p.G220D) - RPGRIP1L_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.671_677del r.(?) p.(Gln224Glyfs*7) Unknown - likely pathogenic g.53720444_53720450del g.53686532_53686538del c.671_677del; p.Q224Gfs*7 - RPGRIP1L_000124 - PubMed: Brooks 2018 - - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 360 PubMed: Brooks 2018 family 77 M - United States - - - - - 1 LOVD
+/. 6 c.671_677del r.(?) p.(Glu224Glyfs*7) Unknown - pathogenic g.53720444_53720450del - c.671_677del - RPGRIP1L_000124 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 360 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
-/. - c.685G>A r.(?) p.(Ala229Thr) Unknown - benign g.53720436C>T g.53686524C>T RPGRIP1L(NM_015272.4):c.685G>A (p.A229T), RPGRIP1L(NM_015272.5):c.685G>A (p.A229T, p.(Ala229Thr)) - RPGRIP1L_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.685G>A r.(?) p.(Ala229Thr) Unknown - likely benign g.53720436C>T g.53686524C>T RPGRIP1L(NM_015272.4):c.685G>A (p.A229T), RPGRIP1L(NM_015272.5):c.685G>A (p.A229T, p.(Ala229Thr)) - RPGRIP1L_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.685G>A r.(?) p.(Ala229Thr) Unknown - benign g.53720436C>T g.53686524C>T RPGRIP1L(NM_015272.4):c.685G>A (p.A229T), RPGRIP1L(NM_015272.5):c.685G>A (p.A229T, p.(Ala229Thr)) - RPGRIP1L_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.685G>A r.(?) p.(Ala229Thr) Unknown - likely benign g.53720436C>T g.53686524C>T RPGRIP1L(NM_015272.4):c.685G>A (p.A229T), RPGRIP1L(NM_015272.5):c.685G>A (p.A229T, p.(Ala229Thr)) - RPGRIP1L_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.685G>A r.(?) p.(Ala229Thr) Parent #1 - likely benign g.53720436C>T g.53686524C>T - - RPGRIP1L_000053 243 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61747071 Germline - 243/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 243 Mohammed Faruq
-?/. - c.685G>A r.(?) p.(Ala229Thr) Both (homozygous) - likely benign g.53720436C>T g.53686524C>T - - RPGRIP1L_000053 7 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs61747071 Germline - 7/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 7 Mohammed Faruq
?/. - c.685G>A r.(?) p.(Ala229Thr) Unknown - VUS g.53720436C>T g.53686524C>T - - RPGRIP1L_000053 - PubMed: Bryant 2018 - rs61747071 Germline - - - - - DNA SEQ-NG - WES retinal disease JB38 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
?/. - c.685G>A r.(?) p.(Ala229Thr) Parent #1 - VUS g.53720436C>T g.53686524C>T - - RPGRIP1L_000053 - PubMed: Bryant 2018 - rs61747071 Germline - - - - - DNA SEQ-NG - WES retinal disease JB40 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+/. - c.697A>T r.(?) p.(Lys233*) Maternal (confirmed) - pathogenic (recessive) g.53720424T>A g.53686512T>A - - RPGRIP1L_000152 - PubMed: Delous 2007 - - Germline - - - - - DNA SEQ - - JBTS F222-1 PubMed: Delous 2007 - - - France - - - - - 1 Johan den Dunnen
+?/. 6 c.712del r.(?) p.(Arg238Glufs*29) Parent #2 - likely pathogenic g.53720409del g.53686497del - - RPGRIP1L_000010 - PubMed: Kroes 2016 - - Unknown ? - - - - DNA SEQ-NG-S blood - JBTS1 1-39 Pat17 PubMed: Kroes 2016 - - - - Europe-N - - - - 1 Sanne Savelberg
+/. - c.712del r.(?) p.(Arg238GlufsTer29) Unknown - pathogenic g.53720409del g.53686497del RPGRIP1L(NM_015272.4):c.712delA (p.R238Efs*29) - RPGRIP1L_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 6 c.721_724delAATG r.(?) p.(Asn241Lysfs*25) Unknown - pathogenic g.53720397_53720400delCATT - c.721e4delAATG - RPGRIP1L_000123 - PubMed: Otto 2011 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG-S Blood - retinal disease - PubMed: Otto 2011 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+/+ 6 c.723_726del r.(723_726del) p.(Asn241Lysfs*25) Unknown - pathogenic g.53720397_53720400del g.53686485_53686488del c.721-4delAATG: p.N241fsX25 - RPGRIP1L_000008 1 English MKS5 family (com-het) PubMed: Otto 2011 - - SUMMARY record yes - - - - - - - - - - - - - - - - - - - - - -
+/. - c.757C>T r.(?) p.(Gln253*) Paternal (inferred) - pathogenic (recessive) g.53720364G>A g.53686452G>A - - RPGRIP1L_000153 - PubMed: Delous 2007 - - Germline - - - - - DNA SEQ - - JBTS F58-1 PubMed: Delous 2007 - - - France - - - - - 1 Johan den Dunnen
?/. - c.788G>A r.(?) p.(Arg263Gln) Unknown - VUS g.53709023C>T - RPGRIP1L(NM_015272.5):c.788G>A (p.(Arg263Gln)) - RPGRIP1L_000174 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.821A>T r.(?) p.(Gln274Leu) Unknown - VUS g.53708990T>A - RPGRIP1L(NM_015272.4):c.821A>T (p.Q274L) - RPGRIP1L_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.949C>T r.(?) p.(Leu317Phe) Unknown - VUS g.53706862G>A g.53672950G>A RPGRIP1L(NM_001308334.3):c.949C>T (p.L317F) - RPGRIP1L_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.960G>A r.(?) p.(=) Unknown - likely benign g.53706851C>T - RPGRIP1L(NM_015272.5):c.960G>A (p.Q320=) - RPGRIP1L_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.961C>T r.(?) p.(Arg321Cys) Unknown - likely benign g.53706850G>A - RPGRIP1L(NM_001127897.1):c.961C>T (p.(Arg321Cys)) - RPGRIP1L_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.962G>A r.(?) p.(Arg321His) Maternal (confirmed) - pathogenic g.53706849C>T g.53672937C>T - - RPGRIP1L_000108 - PubMed: Suzuki 2016 - - Germline - - - - - DNA SEQ, SEQ-NG - WES JBTS Fam30 PubMed: Suzuki 2016 2-generation family, 1 affected, unaffected heterozygous carrier parents F no Japan - - - - - 1 LOVD
?/. - c.962G>A r.(?) p.(Arg321His) Unknown - VUS g.53706849C>T - RPGRIP1L(NM_015272.5):c.962G>A (p.(Arg321His)) - RPGRIP1L_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 8 c.972C>G r.(?) p.(Cys324Trp) Parent #1 - VUS g.53706839G>C g.53672927G>C - - RPGRIP1L_000002 - PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
+/. - c.986_987del r.(?) p.(Lys329ThrfsTer9) Unknown - pathogenic g.53706825_53706826del g.53672913_53672914del RPGRIP1L(NM_015272.4):c.986_987delAA (p.K329Tfs*9), RPGRIP1L(NM_015272.5):c.986_987delAA (p.K329Tfs*9) - RPGRIP1L_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.986_987del r.(?) p.(Lys329ThrfsTer9) Unknown - pathogenic g.53706825_53706826del - RPGRIP1L(NM_015272.4):c.986_987delAA (p.K329Tfs*9), RPGRIP1L(NM_015272.5):c.986_987delAA (p.K329Tfs*9) - RPGRIP1L_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1029+3A>C r.spl? p.? Unknown - VUS g.53706779T>G - RPGRIP1L(NM_015272.5):c.1029+3A>C - RPGRIP1L_000164 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1030-58del r.(=) p.(=) Unknown - benign g.53705561del g.53671649del RPGRIP1L(NM_015272.5):c.1030-58delT - RPGRIP1L_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 9 c.1033C>T r.(1033c>u) p.(Gln345*) Unknown - pathogenic (recessive) g.53705492G>A g.53671580G>A Q345X - RPGRIP1L_000004 - - - rs121918202 SUMMARY record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1033C>T r.(?) p.(Gln345*) Paternal (confirmed) - pathogenic (recessive) g.53705492G>A g.53671580G>A - - RPGRIP1L_000004 - PubMed: Delous 2007 - - Germline - - - - - DNA SEQ - - MKS F2MKS05/206 PubMed: Delous 2007 fetus - no France - - - - - 1 Johan den Dunnen
-/. - c.1072T>C r.(?) p.(Leu358=) Unknown - benign g.53705453A>G g.53671541A>G RPGRIP1L(NM_001308334.3):c.1072T>C (p.L358=), RPGRIP1L(NM_015272.4):c.1072T>C (p.L358=), RPGRIP1L(NM_015272.5):c.1072T>C (p.L358=) - RPGRIP1L_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1072T>C r.(?) p.(Leu358=) Unknown - likely benign g.53705453A>G g.53671541A>G RPGRIP1L(NM_001308334.3):c.1072T>C (p.L358=), RPGRIP1L(NM_015272.4):c.1072T>C (p.L358=), RPGRIP1L(NM_015272.5):c.1072T>C (p.L358=) - RPGRIP1L_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1072T>C r.(?) p.(Leu358=) Unknown - likely benign g.53705453A>G - RPGRIP1L(NM_001308334.3):c.1072T>C (p.L358=), RPGRIP1L(NM_015272.4):c.1072T>C (p.L358=), RPGRIP1L(NM_015272.5):c.1072T>C (p.L358=) - RPGRIP1L_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1085A>G r.(?) p.(Tyr362Cys) Unknown - likely benign g.53705440T>C g.53671528T>C RPGRIP1L(NM_015272.4):c.1085A>G (p.Y362C) - RPGRIP1L_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1103+15C>T r.(=) p.(=) Unknown - likely benign g.53705407G>A g.53671495G>A RPGRIP1L(NM_001330538.2):c.1103+15C>T - RPGRIP1L_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1132del r.(?) p.(Trp378Glyfs*3) Parent #1 - pathogenic g.53698893del g.53664981del NM_015272.2:c.1132delT - RPGRIP1L_000118 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW227-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
-?/. - c.1156A>G r.(?) p.(Lys386Glu) Unknown - likely benign g.53698869T>C g.53664957T>C RPGRIP1L(NM_001308334.3):c.1156A>G (p.K386E), RPGRIP1L(NM_015272.4):c.1156A>G (p.K386E) - RPGRIP1L_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1156A>G r.(?) p.(Lys386Glu) Unknown - VUS g.53698869T>C - RPGRIP1L(NM_001308334.3):c.1156A>G (p.K386E), RPGRIP1L(NM_015272.4):c.1156A>G (p.K386E) - RPGRIP1L_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1165A>G r.(?) p.(Ile389Val) Unknown - benign g.53698860T>C g.53664948T>C RPGRIP1L(NM_001127897.1):c.1165A>G (p.(Ile389Val)), RPGRIP1L(NM_001308334.3):c.1165A>G (p.I389V), RPGRIP1L(NM_015272.5):c.1165A>G (p.I389V) - RPGRIP1L_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1165A>G r.(?) p.(Ile389Val) Unknown - likely benign g.53698860T>C - RPGRIP1L(NM_001127897.1):c.1165A>G (p.(Ile389Val)), RPGRIP1L(NM_001308334.3):c.1165A>G (p.I389V), RPGRIP1L(NM_015272.5):c.1165A>G (p.I389V) - RPGRIP1L_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1165A>G r.(?) p.(Ile389Val) Unknown - likely benign g.53698860T>C - RPGRIP1L(NM_001127897.1):c.1165A>G (p.(Ile389Val)), RPGRIP1L(NM_001308334.3):c.1165A>G (p.I389V), RPGRIP1L(NM_015272.5):c.1165A>G (p.I389V) - RPGRIP1L_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.1177G>A r.(?) p.(Glu393Lys) Unknown - pathogenic g.53698848C>T - c.1177G/A - RPGRIP1L_000122 - PubMed: Otto 2011 - - Germline - - - - - DNA PCR, SEQ, SEQ-NG-S Blood - retinal disease - PubMed: Otto 2011 - - - Germany - - - - - 1 LOVD
+/. - c.1243+1G>A r.spl? p.? Parent #1 - pathogenic g.53698781C>T g.53664869C>T NM_015272.2:c.1243+1G>A - RPGRIP1L_000117 - PubMed: Bachmann-Gagescu 2015 - - Germline - - - - - DNA SEQ - 27-gene panel JBTS UW299-3 PubMed: Bachmann-Gagescu 2015 patient - - - - - - - - 1 LOVD
+/. - c.1243+1530G>C r.1243_1244ins1243+1459_1243+1532 p.Gln416IlefsTer55 Both (homozygous) - pathogenic (recessive) g.53697252C>G g.53663340C>G - - RPGRIP1L_000167 pseudoexon inclusion intron 10 PubMed: Dekker 2023 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - gene panel NDD Pat8 PubMed: Dekker 2023 fetus M no Netherlands - - - - - 1 Johan den Dunnen
-?/. - c.1331G>A r.(?) p.(Arg444His) Unknown - likely benign g.53692703C>T g.53658791C>T RPGRIP1L(NM_001127897.1):c.1331G>A (p.(Arg444His)) - RPGRIP1L_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 11 c.1331G>A r.(?) p.(Arg444His) Unknown - VUS g.53692703C>T g.53658791C>T G1331A - RPGRIP1L_000046 - PubMed: Katagiri 2014 - rs76600508 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#019 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
-?/. - c.1335A>T r.(?) p.(Ile445=) Unknown - likely benign g.53692699T>A - RPGRIP1L(NM_015272.4):c.1335A>T (p.I445=) - RPGRIP1L_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1340T>C r.(?) p.(Leu447Ser) Unknown - benign g.53692694A>G g.53658782A>G RPGRIP1L(NM_001127897.1):c.1340T>C (p.(Leu447Ser)), RPGRIP1L(NM_001308334.3):c.1340T>C (p.L447S), RPGRIP1L(NM_015272.4):c.1340T>C (p.L447S), RPGRIP... - RPGRIP1L_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1340T>C r.(?) p.(Leu447Ser) Unknown - likely benign g.53692694A>G g.53658782A>G RPGRIP1L(NM_001127897.1):c.1340T>C (p.(Leu447Ser)), RPGRIP1L(NM_001308334.3):c.1340T>C (p.L447S), RPGRIP1L(NM_015272.4):c.1340T>C (p.L447S), RPGRIP... - RPGRIP1L_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1340T>C r.(?) p.(Leu447Ser) Unknown - likely pathogenic g.53692694A>G g.53658782A>G 340T>C; p.L447S (table cell is cut in the supplementary table PDF file) - RPGRIP1L_000011 - PubMed: Brooks 2018 - - Germline ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 360 PubMed: Brooks 2018 family 77 M - United States - - - - - 1 LOVD
+/. 11 c.1340T>C r.(?) p.(Leu447Ser) Unknown - pathogenic g.53692694A>G - c.1340T>C - RPGRIP1L_000011 - PubMed: Summers 2017 - - Germline - - - - - DNA SEQ-NG blood whole exome sequencing retinal disease 360 PubMed: Summers 2017 - - - United States - - - - - 1 LOVD
-/. - c.1340T>C r.(?) p.(Leu447Ser) Unknown - benign g.53692694A>G g.53658782A>G RPGRIP1L 16:52250195 (hg18) het CM093292 - RPGRIP1L_000011 non-causative, heterozygous PubMed: Bell 2011 - - Germline ? - - - - DNA, RNA SEQ-NG blood - retinal disease NA01899 PubMed: Bell 2011 - ? - - - - - - - 1 LOVD
-?/. - c.1340T>C r.(?) p.(Leu447Ser) Unknown - likely benign g.53692694A>G - RPGRIP1L(NM_001127897.1):c.1340T>C (p.(Leu447Ser)), RPGRIP1L(NM_001308334.3):c.1340T>C (p.L447S), RPGRIP1L(NM_015272.4):c.1340T>C (p.L447S), RPGRIP... - RPGRIP1L_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1340T>C r.(?) p.(Leu447Ser) Unknown - likely benign g.53692694A>G - RPGRIP1L(NM_001127897.1):c.1340T>C (p.(Leu447Ser)), RPGRIP1L(NM_001308334.3):c.1340T>C (p.L447S), RPGRIP1L(NM_015272.4):c.1340T>C (p.L447S), RPGRIP... - RPGRIP1L_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1341G>A r.(?) p.(Leu447=) Unknown - benign g.53692693C>T g.53658781C>T RPGRIP1L(NM_015272.4):c.1341G>A (p.L447=) - RPGRIP1L_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 11i c.1351-11A>G r.spl p.? Maternal (confirmed) ACMG VUS g.53692387T>C g.53658475T>C c.1351-11(IVS11)A>G - RPGRIP1L_000131 - PubMed: Tang 2022, Journal: Tang 2022 - rs750076702 Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 904 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
?/. - c.1397T>G r.(?) p.(Ile466Arg) Unknown - VUS g.53692330A>C g.53658418A>C RPGRIP1L(NM_015272.4):c.1397T>G (p.I466R) - RPGRIP1L_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1419A>C r.(?) p.(Lys473Asn) Unknown - VUS g.53691527T>G g.53657615T>G RPGRIP1L(NM_015272.4):c.1419A>C (p.K473N) - RPGRIP1L_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1496A>C r.(?) p.(Gln499Pro) Unknown - VUS g.53691450T>G - RPGRIP1L(NM_015272.4):c.1496A>C (p.Q499P) - RPGRIP1L_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1555C>T r.(?) p.(Gln519Ter) Unknown - pathogenic g.53691391G>A g.53657479G>A RPGRIP1L(NM_001308334.3):c.1555C>T (p.Q519*) - RPGRIP1L_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1558C>G r.(?) p.(His520Asp) Unknown - likely benign g.53691388G>C g.53657476G>C RPGRIP1L(NM_001308334.3):c.1558C>G (p.H520D) - RPGRIP1L_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1582-1G>C r.(?) p.(?) Both (homozygous) - likely pathogenic g.53690502C>G g.53656590C>G RPGRIP1L c.1582-1G>C, - RPGRIP1L_000132 homozygous PubMed: Alabdullatif 2017 - - Germline yes - - - - DNA arraySNP, SEQ - - retinal disease 141 PubMed: Alabdullatif 2017 - F yes United Arab Emirates - - - - - 1 LOVD
+/. - c.1603dup r.(?) p.(Arg535ProfsTer2) Unknown - pathogenic g.53690482dup g.53656570dup RPGRIP1L(NM_015272.4):c.1603dupC (p.R535Pfs*2) - RPGRIP1L_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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