Full data view for gene RIMS1

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_014989.5 transcript reference sequence.

160 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.-20G>C r.(?) p.(=) Unknown - benign g.72596707G>C g.71887004G>C RIMS1(NM_014989.7):c.-20G>C - RIMS1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.? r.(?) p.? Unknown - VUS g.? - Arg844His - LAMA2_000000 - PubMed: Robson 2008 - - Germline - - - - - DNA ? - described in Robson 2003 retinal disease - PubMed: Robson 2008 - M - - - - - - - 1 LOVD
?/. - c.? r.(?) p.? Unknown - VUS g.? - Arg844His - LAMA2_000000 - PubMed: Robson 2008 - - Germline - - - - - DNA ? - described in Robson 2003 retinal disease - PubMed: Robson 2008 - F - - - - - - - 1 LOVD
?/. - c.? r.(?) p.? Unknown - VUS g.? - Arg844His - LAMA2_000000 - PubMed: Robson 2008 - - Germline - - - - - DNA ? - described in Robson 2003 retinal disease - PubMed: Robson 2008 - F - - - - - - - 1 LOVD
?/. - c.? r.(?) p.? Unknown - VUS g.? - Arg844His - LAMA2_000000 - PubMed: Robson 2008 - - Germline - - - - - DNA ? - described in Robson 2003 retinal disease - PubMed: Robson 2008 - M - - - - - - - 1 LOVD
?/. - c.? r.(?) p.? Unknown - VUS g.? - Arg844His - LAMA2_000000 - PubMed: Robson 2008 - - Germline - - - - - DNA ? - described in Robson 2003 retinal disease - PubMed: Robson 2008 - M - - - - - - - 1 LOVD
?/. - c.? r.(?) p.? Unknown - VUS g.? - Arg844His - LAMA2_000000 - PubMed: Robson 2008 - - Germline - - - - - DNA ? - described in Robson 2003 retinal disease - PubMed: Robson 2008 - F - - - - - - - 1 LOVD
?/. - c.2T>C r.(?) p.(Met1?) Unknown - VUS g.72596728T>C g.71887025T>C RIMS1 c.2T>C, p.M1T - RIMS1_000112 no zygosity and pathogenicity classification indicated PubMed: Ng 2021 - - Unknown ? - - - - DNA SEQ blood whole exome sequencing retinal disease RP-064 PubMed: Ng 2021 - F ? China - - - - - 1 LOVD
-?/. - c.28C>T r.(?) p.(Pro10Ser) Unknown - likely benign g.72596754C>T g.71887051C>T RIMS1(NM_014989.7):c.28C>T (p.P10S) - RIMS1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.28C>T r.(?) p.(Pro10Ser) Unknown - VUS g.72596754C>T g.71887051C>T RIMS1 c.28C>T, p.P10S - RIMS1_000004 no zygosity and pathogenicity classification indicated PubMed: Ng 2021 - - Unknown ? - - - - DNA SEQ blood whole exome sequencing retinal disease RP-045 PubMed: Ng 2021 - F ? China - - - - - 1 LOVD
?/. - c.46C>T r.(?) p.(Pro16Ser) Unknown - VUS g.72596772C>T g.71887069C>T RIMS1(NM_014989.5):c.46C>T (p.P16S) - RIMS1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.164+16C>T r.(=) p.(=) Unknown - benign g.72596906C>T g.71887203C>T RIMS1(NM_014989.7):c.164+16C>T - RIMS1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.186G>A r.(?) p.(Ala62=) Unknown - likely benign g.72678707G>A g.71969004G>A RIMS1(NM_014989.7):c.186G>A (p.A62=) - RIMS1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.228G>T r.(?) p.(Gln76His) Unknown - VUS g.72678749G>T g.71969046G>T RIMS1 c.228G>T, p.Q76H - RIMS1_000113 no zygosity and pathogenicity classification indicated PubMed: Ng 2021 - - Unknown ? - - - - DNA SEQ blood whole exome sequencing retinal disease RP-073 PubMed: Ng 2021 - F ? China - - - - - 1 LOVD
-?/. - c.402T>C r.(?) p.(Tyr134=) Unknown - likely benign g.72806808T>C g.72097105T>C RIMS1(NM_014989.5):c.402T>C (p.Y134=) - RIMS1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.438C>T r.(?) p.(Arg146=) Unknown - benign g.72806844C>T g.72097141C>T RIMS1(NM_014989.7):c.438C>T (p.R146=) - RIMS1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.458A>C r.(?) p.(Asn153Thr) Unknown - VUS g.72806864A>C g.72097161A>C - - RIMS1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.458A>C r.(?) p.(Asn153Thr) Unknown - VUS g.72806864A>C - c.458A>C - RIMS1_000035 - PubMed: Wang-2014 - - Germline - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - - - - - - - - 1 LOVD
-/. - c.648G>A r.(?) p.(Ser216=) Unknown - benign g.72889454G>A g.72179751G>A RIMS1(NM_014989.7):c.648G>A (p.S216=) - RIMS1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.666A>G r.(?) p.(Leu222=) Unknown - benign g.72889472A>G g.72179769A>G RIMS1(NM_014989.7):c.666A>G (p.L222=) - RIMS1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.674C>T r.(?) p.(Ala225Val) Unknown - VUS g.72889480C>T - RIMS1(NM_014989.5):c.674C>T (p.A225V) - RIMS1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.708C>T r.(?) p.(Ser236=) Unknown - likely benign g.72889514C>T g.72179811C>T RIMS1(NM_014989.7):c.708C>T (p.S236=) - RIMS1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.798A>G r.(?) p.(Glu266=) Unknown - likely benign g.72889604A>G g.72179901A>G RIMS1(NM_014989.7):c.798A>G (p.E266=) - RIMS1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.843T>A r.(?) p.(Asn281Lys) Unknown - VUS g.72892017T>A g.72182314T>A - - RIMS1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.915C>G r.(?) p.(Val305=) Unknown - benign g.72892089C>G g.72182386C>G RIMS1(NM_014989.7):c.915C>G (p.V305=) - RIMS1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.928C>T r.(?) p.(Arg310Cys) Unknown ACMG VUS g.72892102C>T g.72182399C>T RIMS1:NM_014989 c.C928T, p.R310C - RIMS1_000104 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-419 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
-/. - c.942G>A r.(?) p.(Arg314=) Unknown - benign g.72892116G>A g.72182413G>A RIMS1(NM_014989.7):c.942G>A (p.R314=) - RIMS1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.976G>A r.(?) p.(Asp326Asn) Unknown - VUS g.72892150G>A g.72182447G>A RIMS1(NM_014989.5):c.976G>A (p.D326N) - RIMS1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1047_1049del r.(?) p.(Glu349del) Unknown ACMG VUS g.72892221_72892223del g.72182518_72182520del RIMS1:NM_014989 c.1047_1049del, p.E349del - RIMS1_000105 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.1083A>G r.(?) p.(Leu361=) Unknown - benign g.72892257A>G g.72182554A>G RIMS1(NM_014989.7):c.1083A>G (p.L361=) - RIMS1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1094C>T r.(?) p.(Pro365Leu) Unknown - VUS g.72892268C>T g.72182565C>T RIMS1(NM_014989.7):c.1094C>T (p.P365L) - RIMS1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1100A>C r.(?) p.(Lys367Thr) Unknown - likely benign g.72892274A>C g.72182571A>C RIMS1(NM_014989.5):c.1100A>C (p.K367T) - RIMS1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1106_1107delinsGA r.(?) p.(Pro369Arg) Unknown ACMG VUS g.72892280_72892281delinsGA g.72182577_72182578delinsGA - - RIMS1_000122 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-379 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
-?/. - c.1122G>A r.(?) p.(Gln374=) Unknown - likely benign g.72892296G>A - RIMS1(NM_014989.7):c.1122G>A (p.Q374=) - RIMS1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1182G>C r.(?) p.(Ala394=) Unknown - benign g.72892356G>C g.72182653G>C RIMS1(NM_014989.7):c.1182G>C (p.A394=) - RIMS1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1209G>A r.(?) p.(Ala403=) Unknown - benign g.72892383G>A g.72182680G>A RIMS1(NM_014989.7):c.1209G>A (p.A403=) - RIMS1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1230C>G r.(?) p.(Gly410=) Unknown - benign g.72892404C>G g.72182701C>G RIMS1(NM_014989.7):c.1230C>G (p.G410=) - RIMS1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1265C>T r.(?) p.(Pro422Leu) Unknown - likely benign g.72892439C>T g.72182736C>T RIMS1(NM_014989.5):c.1265C>T (p.P422L) - RIMS1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1305G>C r.(?) p.(Glu435Asp) Unknown - likely benign g.72892479G>C g.72182776G>C RIMS1(NM_014989.7):c.1305G>C (p.E435D) - RIMS1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1372C>T r.(?) p.(Pro458Ser) Unknown - VUS g.72892546C>T - RIMS1(NM_014989.7):c.1372C>T (p.P458S) - RIMS1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1459G>A r.(?) p.(Ala487Thr) Unknown - benign g.72892633G>A g.72182930G>A RIMS1(NM_014989.5):c.1459G>A (p.A487T), RIMS1(NM_014989.7):c.1459G>A (p.A487T) - RIMS1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1459G>A r.(?) p.(Ala487Thr) Unknown - likely benign g.72892633G>A g.72182930G>A RIMS1(NM_014989.5):c.1459G>A (p.A487T), RIMS1(NM_014989.7):c.1459G>A (p.A487T) - RIMS1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1626G>C r.(?) p.(Glu542Asp) Unknown ACMG VUS g.72892800G>C g.72183097G>C - - RIMS1_000123 ACMG PM2, BP4 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1253 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
?/. 6 c.1666G>T r.(?) p.(Val556Phe) Unknown - VUS g.72892840G>T g.72183137G>T G1666T - RIMS1_000096 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#015 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. - c.1669A>T r.(?) p.(Ser557Cys) Unknown ACMG VUS g.72892843A>T g.72183140A>T - - RIMS1_000124 ACMG PM2, PVS1_MODERATE; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CD-584 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
-?/. - c.1678+7G>C r.(=) p.(=) Unknown - likely benign g.72892859G>C - RIMS1(NM_014989.7):c.1678+7G>C - RIMS1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1679-20579A>G r.(=) p.(=) Unknown - likely benign g.72922897A>G g.72213194A>G RIMS1(NM_001350436.1):c.72A>G (p.G24=) - RIMS1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1679-20577C>G r.(=) p.(=) Unknown - VUS g.72922899C>G g.72213196C>G RIMS1(NM_001168407.2):c.74C>G (p.T25R) - RIMS1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1679-16597C>T r.(=) p.(=) Unknown - benign g.72926879C>T g.72217176C>T RIMS1(NM_001168410.2):c.-13C>T - RIMS1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1776G>A r.(?) p.(Glu592=) Unknown - likely benign g.72945350G>A g.72235647G>A RIMS1(NM_014989.5):c.1776G>A (p.E592=) - RIMS1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1902C>T r.(?) p.(Phe634=) Unknown - likely benign g.72947570C>T - RIMS1(NM_014989.5):c.1902C>T (p.F634=) - RIMS1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1957+5dup r.spl? p.? Unknown - likely benign g.72947630dup g.72237927dup RIMS1(NM_014989.5):c.1957+5dupA - RIMS1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2034A>G r.(?) p.(Glu678=) Unknown - likely benign g.72952093A>G g.72242390A>G RIMS1(NM_014989.5):c.2034A>G (p.E678=) - RIMS1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 10 c.2035T>A r.(?) p.(Ser679Thr) Unknown ACMG pathogenic g.72952094T>A g.72242391T>A RIMS1 c.2035T>A, p.(S679T) - RIMS1_000111 - PubMed: Xiao-2021 - - Unknown yes - - - - DNA SEQ-NG blood gene panel testing retinal disease 191323 PubMed: Xiao-2021 - F - China - - - - - 1 LOVD
-/. - c.2082-9T>C r.(=) p.(=) Unknown - benign g.72955509T>C g.72245806T>C RIMS1(NM_014989.7):c.2082-9T>C - RIMS1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2092C>T r.(?) p.(Arg698Trp) Unknown - VUS g.72955528C>T - - - RIMS1_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2261A>G r.(?) p.(Lys754Arg) Unknown - VUS g.72960052A>G - RIMS1(NM_014989.5):c.2261A>G (p.K754R) - RIMS1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2294A>G r.(?) p.(Gln765Arg) Unknown - VUS g.72960085A>G g.72250382A>G RIMS1(NM_014989.5):c.2294A>G (p.Q765R), RIMS1(NM_014989.7):c.2294A>G (p.Q765R) - RIMS1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2294A>G r.(?) p.(Gln765Arg) Unknown - VUS g.72960085A>G g.72250382A>G RIMS1(NM_014989.5):c.2294A>G (p.Q765R), RIMS1(NM_014989.7):c.2294A>G (p.Q765R) - RIMS1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2294A>G r.(?) p.(Gln765Arg) Unknown - likely benign g.72960085A>G - RIMS1(NM_014989.5):c.2294A>G (p.Q765R), RIMS1(NM_014989.7):c.2294A>G (p.Q765R) - RIMS1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2367T>C r.(?) p.(Asp789=) Unknown - benign g.72960158T>C g.72250455T>C RIMS1(NM_014989.7):c.2367T>C (p.D789=) - RIMS1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2372+6G>A r.(?) p.? Unknown - VUS g.72960169G>A g.72250466G>A - - RIMS1_000094 - PubMed: Liu 2015 - - Germline no - - - - DNA SEQ-NG - 316-gene panel retinal disease RH11 PubMed: Liu 2015 - - - China - - - - - 1 LOVD
?/. - c.2456A>G r.(?) p.(His819Arg) Parent #1 ACMG VUS g.72960707A>G g.72251004A>G - - RIMS1_000125 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CRD-787 PubMed: Weisschuh 2024 family, >3 affected M - Germany - - - - - 4 Johan den Dunnen
+/. 14 c.2459G>A r.(?) p.(Arg820His) Unknown - pathogenic g.72960710G>A - Arg844His (G to A) - RIMS1_000118 - PubMed: Michaelides-2005, PubMed: Johnson-2003 - - Germline yes 0/200 control chromosomes - - - DNA ? - - retinal disease II:2 PubMed: Michaelides-2005, PubMed: Johnson-2003 - F no (United Kingdom (Great Britain)) British - - - - 1 LOVD
+/. 14 c.2459G>A r.(?) p.(Arg820His) Unknown - pathogenic g.72960710G>A - Arg844His (G to A) - RIMS1_000118 - PubMed: Michaelides-2005, PubMed: Johnson-2003 - - Germline yes 0/200 control chromosomes - - - DNA ? - - retinal disease II:5 PubMed: Michaelides-2005, PubMed: Johnson-2003 - F no (United Kingdom (Great Britain)) British - - - - 1 LOVD
+/. 14 c.2459G>A r.(?) p.(Arg820His) Unknown - pathogenic g.72960710G>A - Arg844His (G to A) - RIMS1_000118 - PubMed: Michaelides-2005, PubMed: Johnson-2003 - - Germline yes 0/200 control chromosomes - - - DNA ? - - retinal disease II:7 PubMed: Michaelides-2005, PubMed: Johnson-2003 - F no (United Kingdom (Great Britain)) British - - - - 1 LOVD
+/. 14 c.2459G>A r.(?) p.(Arg820His) Unknown - pathogenic g.72960710G>A - Arg844His (G to A) - RIMS1_000118 - PubMed: Michaelides-2005, PubMed: Johnson-2003 - - Germline yes 0/200 control chromosomes - - - DNA ? - - retinal disease III:1 PubMed: Michaelides-2005, PubMed: Johnson-2003 - M no (United Kingdom (Great Britain)) British - - - - 1 LOVD
+/. 14 c.2459G>A r.(?) p.(Arg820His) Unknown - pathogenic g.72960710G>A - Arg844His (G to A) - RIMS1_000118 - PubMed: Michaelides-2005, PubMed: Johnson-2003 - - Germline yes 0/200 control chromosomes - - - DNA ? - - retinal disease III:2 PubMed: Michaelides-2005, PubMed: Johnson-2003 - M no (United Kingdom (Great Britain)) British - - - - 1 LOVD
+/. 14 c.2459G>A r.(?) p.(Arg820His) Unknown - pathogenic g.72960710G>A - Arg844His (G to A) - RIMS1_000118 - PubMed: Michaelides-2005, PubMed: Johnson-2003 - - Germline yes 0/200 control chromosomes - - - DNA ? - - retinal disease III:6 PubMed: Michaelides-2005, PubMed: Johnson-2003 - F no (United Kingdom (Great Britain)) British - - - - 1 LOVD
+/. 14 c.2459G>A r.(?) p.(Arg820His) Unknown - pathogenic g.72960710G>A - Arg844His (G to A) - RIMS1_000118 - PubMed: Michaelides-2005, PubMed: Johnson-2003 - - Germline yes 0/200 control chromosomes - - - DNA ? - - retinal disease IV:2 PubMed: Michaelides-2005, PubMed: Johnson-2003 - F no (United Kingdom (Great Britain)) British - - - - 1 LOVD
+/. 14 c.2459G>A r.(?) p.(Arg820His) Unknown - pathogenic g.72960710G>A - Arg844His (G to A) - RIMS1_000118 - PubMed: Michaelides-2005, PubMed: Johnson-2003 - - Germline yes 0/200 control chromosomes - - - DNA ? - - retinal disease IV:3 PubMed: Michaelides-2005, PubMed: Johnson-2003 - M no (United Kingdom (Great Britain)) British - - - - 1 LOVD
+?/. 14 c.2459G>A r.(?) p.(Arg820His) Unknown - likely pathogenic g.72960710G>A - c.2459G>A (Arg820His) - RIMS1_000118 - PubMed: Warwick-2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease - PubMed: Warwick-2017 - - - (United Kingdom (Great Britain)) - - - - - 1 LOVD
-/. - c.2523A>G r.(?) p.(Glu841=) Unknown - benign g.72960774A>G g.72251071A>G RIMS1(NM_014989.5):c.2523A>G (p.E841=), RIMS1(NM_014989.7):c.2523A>G (p.E841=) - RIMS1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2523A>G r.(?) p.(Glu841=) Unknown - likely benign g.72960774A>G g.72251071A>G RIMS1(NM_014989.5):c.2523A>G (p.E841=), RIMS1(NM_014989.7):c.2523A>G (p.E841=) - RIMS1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2544+4A>G r.spl p.(?) Unknown ACMG VUS g.72960799A>G g.72251096A>G RIMS1:NM_014989 c.2544+4A>G, p.? - RIMS1_000106 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-104 PubMed: Rodriguez-Munoz 2020 family fRPN-38, proband F - Spain - - - - - 1 LOVD
?/. - c.2624T>C r.(?) p.(Leu875Pro) Unknown - VUS g.72960997T>C - RIMS1(NM_014989.5):c.2624T>C (p.L875P) - RIMS1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2659C>T r.(?) p.(Arg887Ter) Unknown - VUS g.72961032C>T g.72251329C>T - - RIMS1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2670T>C r.(?) p.(His890=) Unknown - benign g.72961043T>C g.72251340T>C RIMS1(NM_014989.5):c.2670T>C (p.H890=), RIMS1(NM_014989.7):c.2670T>C (p.H890=) - RIMS1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2670T>C r.(?) p.(His890=) Unknown - benign g.72961043T>C g.72251340T>C RIMS1(NM_014989.5):c.2670T>C (p.H890=), RIMS1(NM_014989.7):c.2670T>C (p.H890=) - RIMS1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2680T>G r.(?) p.(Ser894Ala) Unknown - likely benign g.72961053T>G g.72251350T>G RIMS1(NM_014989.7):c.2680T>G (p.S894A) - RIMS1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 15i c.2699-8T>C r.(spl?) p.(?) Parent #1 - VUS g.72962456T>C g.72252753T>C - - RIMS1_000001 - PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
-?/. - c.2699-8T>C r.(=) p.(=) Unknown - likely benign g.72962456T>C g.72252753T>C RIMS1(NM_014989.5):c.2699-8T>C, RIMS1(NM_014989.7):c.2699-8T>C - RIMS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2699-8T>C r.(=) p.(=) Unknown - benign g.72962456T>C g.72252753T>C RIMS1(NM_014989.5):c.2699-8T>C, RIMS1(NM_014989.7):c.2699-8T>C - RIMS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2708G>A r.(?) p.(Arg903Gln) Unknown - VUS g.72962473G>A g.72252770G>A RIMS1(NM_014989.5):c.2708G>A (p.R903Q) - RIMS1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2708G>A r.(?) p.(Arg903Gln) Parent #1 ACMG VUS g.72962473G>A g.72252770G>A - - RIMS1_000044 ACMG PM2, BP4; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CD-543 PubMed: Weisschuh 2024 family, >3 affected M - Germany - - - - - 4 Johan den Dunnen
?/. - c.2764C>A r.(?) p.(Pro922Thr) Unknown - VUS g.72962529C>A g.72252826C>A RIMS1(NM_014989.5):c.2764C>A (p.P922T), RIMS1(NM_014989.7):c.2764C>A (p.P922T) - RIMS1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2764C>A r.(?) p.(Pro922Thr) Unknown - VUS g.72962529C>A - RIMS1(NM_014989.5):c.2764C>A (p.P922T), RIMS1(NM_014989.7):c.2764C>A (p.P922T) - RIMS1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2769A>G r.(?) p.(Pro923=) Unknown - VUS g.72962534A>G - RIMS1(NM_014989.5):c.2769A>G (p.P923=) - RIMS1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2874C>T r.(?) p.(Arg958=) Unknown - benign g.72967931C>T g.72258228C>T RIMS1(NM_014989.7):c.2874C>T (p.R958=) - RIMS1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2894C>T r.(?) p.(Pro965Leu) Unknown - VUS g.72967951C>T g.72258248C>T - - RIMS1_000092 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case71927 PubMed: Tiwari 2016 see paper F - Switzerland - - - - - 1 LOVD
-/. - c.2895G>A r.(?) p.(Pro965=) Unknown - benign g.72967952G>A g.72258249G>A RIMS1(NM_014989.5):c.2895G>A (p.P965=) - RIMS1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2939A>C r.(?) p.(Glu980Ala) Unknown - VUS g.72968700A>C - - - RIMS1_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2955A>G r.(?) p.(Arg985=) Unknown - benign g.72968716A>G g.72259013A>G RIMS1(NM_014989.7):c.2955A>G (p.R985=) - RIMS1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.3027T>C r.(?) p.(Asp1009=) Unknown - likely pathogenic g.72968788T>C g.72259085T>C - - RIMS1_000090 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD6–02 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
?/. - c.3046C>T r.(?) p.(Gln1016Ter) Unknown - VUS g.72968807C>T g.72259104C>T RIMS1(NM_014989.5):c.3046C>T (p.Q1016*) - RIMS1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3060T>A r.(?) p.(Leu1020=) Unknown - benign g.72970414T>A g.72260711T>A RIMS1(NM_014989.7):c.3060T>A (p.L1020=) - RIMS1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.3117-8C>T r.(=) p.(=) Unknown - benign g.72974670C>T g.72264967C>T RIMS1(NM_014989.7):c.3117-8C>T - RIMS1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3117-8C>T r.spl? p.(?) Unknown ACMG VUS g.72974670C>T g.72264967C>T - - RIMS1_000046 ACMG PM2, BP4; no variant 2nd chromosome PubMed: Weisschuh 2024 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? CRD-635 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+?/. 20 c.3136delA r.(?) p.(Thr1047Hisfs*31) Unknown ACMG likely pathogenic g.72264997del g.216246592A>C RIMS1 c.3136delA, p.Lys1046LysfsX32, heterozygous - RIMS1_000108 error in annotation: c.3136delA causes p.(Thr1047HisfsTer31), and not p.(Lys1046LysfsTer32) PubMed: Sun 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted NGS with molecular inversion probes: coding exons of 27 genes associated with Joubert syndrome retinal disease 11 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+/. - c.3139del r.(?) p.(Thr1047HisfsTer31) Unknown - pathogenic g.72974700del g.72264997del RIMS1(NM_014989.5):c.3139delA (p.T1047Hfs*31) - RIMS1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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