Full data view for gene RDH12

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_152443.2 transcript reference sequence.

868 entries on 9 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9     Next › Last »

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     
+?/. - 146C>T r.(?) p.(Thr49Met) Parent #1 - likely pathogenic g.68191267C>T g.67724550C>T RDH12 146C->T, T49M - RDH12_000001 heterozygous PubMed: Janecke 2004 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease 33 PubMed: Janecke 2004 American F - United States - - - - - 1 LOVD
+?/. - 184C>T r.(?) p.(Arg62*) Parent #2 - likely pathogenic g.68191305C>T g.67724588C>T RDH12 184C->T, R62X - RDH12_000002 heterozygous PubMed: Janecke 2004 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease 33 PubMed: Janecke 2004 American F - United States - - - - - 1 LOVD
+?/. - 565C>T r.(?) p.(Gln189*) Both (homozygous) - likely pathogenic g.68193814C>T g.67727097C>T RDH12 565C->T, Q189X - RDH12_000003 homozygous PubMed: Janecke 2004 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease 839 PubMed: Janecke 2004 Turkish proband M - Turkey - - - - - 1 LOVD
+?/. - 565C>T r.(?) p.(Gln189*) Both (homozygous) - likely pathogenic g.68193814C>T g.67727097C>T RDH12 565C->T, Q189X - RDH12_000003 homozygous PubMed: Janecke 2004 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease ? PubMed: Janecke 2004 Turkish proband's sister F - Turkey - - - - - 1 LOVD
+?/. - 677A>G r.(?) p.(Tyr226Cys) Both (homozygous) - likely pathogenic g.68195926A>G g.67729209A>G RDH12 677A->G, Y226C - RDH12_000004 homozygous PubMed: Janecke 2004 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease 1_X-1 PubMed: Janecke 2004 family 1, individual X-1 F - Austria - - - - - 1 LOVD
+?/. - 677A>G r.(?) p.(Tyr226Cys) Both (homozygous) - likely pathogenic g.68195926A>G g.67729209A>G RDH12 677A->G, Y226C - RDH12_000004 homozygous PubMed: Janecke 2004 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease 1_X-2 PubMed: Janecke 2004 family 1, individual X-2 F - Austria - - - - - 1 LOVD
+?/. - 677A>G r.(?) p.(Tyr226Cys) Both (homozygous) - likely pathogenic g.68195926A>G g.67729209A>G RDH12 677A->G, Y226C - RDH12_000004 homozygous PubMed: Janecke 2004 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease 1_X-3 PubMed: Janecke 2004 family 1, individual X-3 M - Austria - - - - - 1 LOVD
+?/. - 677A>G r.(?) p.(Tyr226Cys) Both (homozygous) - likely pathogenic g.68195926A>G g.67729209A>G RDH12 677A->G, Y226C - RDH12_000004 homozygous PubMed: Janecke 2004 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease 1_X-4 PubMed: Janecke 2004 family 1, individual X-4 F - Austria - - - - - 1 LOVD
+?/. - 677A>G r.(?) p.(Tyr226Cys) Both (homozygous) - likely pathogenic g.68195926A>G g.67729209A>G RDH12 677A->G, Y226C - RDH12_000004 homozygous PubMed: Janecke 2004 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease 1_X-5 PubMed: Janecke 2004 family 1, individual X-5 M - Austria - - - - - 1 LOVD
+?/. - 677A>G r.(?) p.(Tyr226Cys) Both (homozygous) - likely pathogenic g.68195926A>G g.67729209A>G RDH12 677A->G, Y226C - RDH12_000004 homozygous PubMed: Janecke 2004 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease 2_VI-4 PubMed: Janecke 2004 family 2, individual VI-4 M - Austria - - - - - 1 LOVD
+?/. - 677A>G r.(?) p.(Tyr226Cys) Both (homozygous) - likely pathogenic g.68195926A>G g.67729209A>G RDH12 677A->G, Y226C - RDH12_000004 homozygous PubMed: Janecke 2004 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease 2_VI-6 PubMed: Janecke 2004 family 2, individual VI-6 M - Austria - - - - - 1 LOVD
+?/. - 677A>G r.(?) p.(Tyr226Cys) Both (homozygous) - likely pathogenic g.68195926A>G g.67729209A>G RDH12 677A->G, Y226C - RDH12_000004 homozygous PubMed: Janecke 2004 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease 2_VI-8 PubMed: Janecke 2004 family 2, individual VI-8 F - Austria - - - - - 1 LOVD
+?/. - 677A>G r.(?) p.(Tyr226Cys) Both (homozygous) - likely pathogenic g.68195926A>G g.67729209A>G RDH12 677A->G, Y226C - RDH12_000004 homozygous PubMed: Janecke 2004 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease 2_VI-11 PubMed: Janecke 2004 family 2, individual VI-11 F - Austria - - - - - 1 LOVD
+?/. - 677A>G r.(?) p.(Tyr226Cys) Both (homozygous) - likely pathogenic g.68195926A>G g.67729209A>G RDH12 677A->G, Y226C - RDH12_000004 homozygous PubMed: Janecke 2004 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease 2_VIII-2 PubMed: Janecke 2004 family 2, individual VIII-2 M - Austria - - - - - 1 LOVD
+?/. - 677A>G r.(?) p.(Tyr226Cys) Both (homozygous) - likely pathogenic g.68195926A>G g.67729209A>G RDH12 677A->G, Y226C - RDH12_000004 homozygous PubMed: Janecke 2004 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease 3_IX-1 PubMed: Janecke 2004 family 3, individual IX-1 M - Austria - - - - - 1 LOVD
+?/. - 677A>G r.(?) p.(Tyr226Cys) Both (homozygous) - likely pathogenic g.68195926A>G g.67729209A>G RDH12 677A->G, Y226C - RDH12_000004 homozygous PubMed: Janecke 2004 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease 3_IX-3 PubMed: Janecke 2004 family 3, individual IX-3 M - Austria - - - - - 1 LOVD
+?/. - 677A>G r.(?) p.(Tyr226Cys) Both (homozygous) - likely pathogenic g.68195926A>G g.67729209A>G RDH12 677A->G, Y226C - RDH12_000004 homozygous PubMed: Janecke 2004 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease 3_IX-5 PubMed: Janecke 2004 family 3, individual IX-5 F - Austria - - - - - 1 LOVD
+?/. - 677A>G r.(?) p.(Tyr226Cys) Both (homozygous) - likely pathogenic g.68195926A>G g.67729209A>G RDH12 677A->G, Y226C - RDH12_000004 homozygous PubMed: Janecke 2004 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease 3_X-2 PubMed: Janecke 2004 family 3, individual X-2 F - Austria - - - - - 1 LOVD
+?/. - 677A>G r.(?) p.(Tyr226Cys) Both (homozygous) - likely pathogenic g.68195926A>G g.67729209A>G RDH12 677A->G, Y226C - RDH12_000004 homozygous PubMed: Janecke 2004 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease 3_IX-12 PubMed: Janecke 2004 family 3, individual IX-12 F - Austria - - - - - 1 LOVD
+?/. - 806delCCCTG r.(?) p.(Ala269Glyfs*2) Both (homozygous) - likely pathogenic g.68196055_68196059del g.67729338_67729342del RDH12 806delCCCTG, Y226C - RDH12_000005 homozygous PubMed: Janecke 2004 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease 828 PubMed: Janecke 2004 German proband M - Germany - - - - - 1 LOVD
+?/+? - c.? r.? p.? Unknown - likely pathogenic (recessive) g.? - Y194X - SERPINA1_000009 - PubMed: Jacobson 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Jacobson 2007 p1 y P2 same family - - - - - - - - 1 Julia Lopez
+?/+? - c.? r.? p.? Unknown - likely pathogenic (recessive) g.? - Y194X - SERPINA1_000009 - PubMed: Jacobson 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Jacobson 2007 p1 y P2 same family - - - - - - - - 1 Julia Lopez
+?/+? - c.? r.? p.? Unknown - likely pathogenic (recessive) g.? - R295X - SERPINA1_000009 - PubMed: Jacobson 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Jacobson 2007 - - - - - - - - - 1 Julia Lopez
+/. 5 c.? r.(?) p.? Both (homozygous) - pathogenic g.68191924C>A - c.296C>A - SERPINA1_000009 - PubMed: Beryozkin-2014 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Beryozkin-2014 - - yes Morocco Morocco;Jewish - - - - 2 LOVD
+?/. - c.? r.0? p.0? Unknown - likely pathogenic g.68176483_68197327del - chr14:g.68176483_68197327del - SERPINA1_000009 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G009840 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - - - - - - - 1 LOVD
+?/. 1 c.2T>C r.(?) p.(Met1?) Maternal (confirmed) - likely pathogenic g.68189361T>C g.67722644T>C RDH12 c.2T>C, p.M1? - RDH12_000139 heterozygous PubMed: Thompson 2005 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease 261 PubMed: Thompson 2005 - ? - - - - - - - 1 LOVD
+?/. - c.2T>C r.0? p.(Met1?) Parent #2 - likely pathogenic (dominant) g.68189361T>C g.67722644T>C RDH12 M1? - RDH12_000139 heterozygous PubMed: Valverde 2009 - - Unknown ? - - - - DNA arraySNP, SEQ blood - retinal disease S261 PubMed: Valverde 2009 - - - Spain - - - - - 1 LOVD
+?/. - c.38C>A r.(?) p.(Ser13*) Both (homozygous) - likely pathogenic g.68189397C>A g.67722680C>A RDH12 c.38C>A, Ser13X - RDH12_000159 homozygous PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 20 PubMed: Fahim 2019 - M - United States - - - - - 1 LOVD
?/. - c.59C>T r.(?) p.(Pro20Leu) Unknown - VUS g.68189418C>T g.67722701C>T - - RDH12_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.63_66del r.(?) p.(Ile22Glyfs*19) Unknown - pathogenic g.68189422_68189425del g.67722705_67722708del - - RDH12_000011 - - - - Unknown - - - - - DNA SEQ-NG-I - - RP - - - - - (United States) - - - - - 1 Feng Wang
+/. 3 c.63_66del r.(?) p.(Ile22Glyfs*19) Unknown - pathogenic g.68189422_68189425del - c.63_66del - RDH12_000011 - PubMed: Wang-2014 - - Unknown - - - - - DNA PCR, SEQ-NG blood or a saliva sample - retinal disease - PubMed: Wang-2014 - - no - - - - - - 1 LOVD
+?/. - c.63_66del r.(?) p.(Ile22Glyfs*19) Parent #2 - likely pathogenic g.68189422_68189425del g.67722705_67722708del RDH12 c.57_60del, p.P20del - RDH12_000011 error in annotation, 3' nucleotide and first affected amino acid rule shift it to c.63_66del, p.I22GfsX19; heterozygous PubMed: Mackay 2011 - - Unknown ? - - - - DNA arraySNP, SEQ blood method of identification: Asper chip retinal disease 9 PubMed: Mackay 2011 - ? no - white - - - - 1 LOVD
+?/. - c.63_66del r.(?) p.(Ile22Glyfs*19) Parent #1 - likely pathogenic g.68189422_68189425del g.67722705_67722708del RDH12 lIe22Gly - RDH12_000011 no nucleotide written, extrapolated from protein, databases and publications; error in annotation, in databases lIe22Gly is described as ""this sequence change creates a premature translational stop signal (p.Ile22Glyfs*19)"", and points to c.63_66del; heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P10 PubMed: Aleman 2018 - F - - Scottish - - - - 1 LOVD
+?/. - c.63_66del r.(?) p.(Ile22Glyfs*19) Parent #1 - likely pathogenic g.68189422_68189425del g.67722705_67722708del RDH12 c.57_60delTCCA, Ala19fs - RDH12_000011 error in annotation, most 3' rule shifts it to c.63_66del, Ile22Glyfs*19; single heterozygous variant PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 25 PubMed: Fahim 2019 - F - United States - - - - - 1 LOVD
+?/. - c.68+1G>A r.spl p.? Parent #1 - likely pathogenic g.68189428G>A g.67722711G>A c.68 + 1G > A NA - RDH12_000080 - PubMed: Wang 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease Fam35 PubMed: Wang 2016 family, 1 affected, unaffected heterozygous carrier parents/relatives - - China Han - - - - 1 LOVD
+/. - c.68+1G>A r.spl p.(?) Parent #1 ACMG pathogenic g.68189428G>A g.67722711G>A RDH12 NM_152443: g.20826G>A, c.68+1G>A - RDH12_000080 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 67190 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
-/. - c.69-19_69-18del r.(=) p.(=) Unknown - benign g.68191171_68191172del g.67724454_67724455del RDH12(NM_152443.3):c.69-19_69-18delTT - RDH12_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.85G>A r.(?) p.(Gly29Arg) Unknown - VUS g.68191206G>A g.67724489G>A RDH12(NM_152443.3):c.85G>A (p.G29R) - RDH12_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.91T>C r.(?) p.(Cys31Arg) Unknown - VUS g.68191212T>C g.67724495T>C RDH12(NM_152443.2):c.91T>C (p.C31R) - RDH12_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.99_102dupAAAT r.(?) p.(Val35Lysfs*28) Maternal (confirmed) - likely pathogenic g.68191220_68191223dup g.67724503_67724506dup RDH12 c.99_102dupAAAT, p.Val35LysfsX27 - RDH12_000140 reduced ability to convert all-trans retinal to all-trans retinol in the presence of NADPH , heterozygous PubMed: Thompson 2005 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease 237 PubMed: Thompson 2005 - ? - - - - - - - 1 LOVD
+?/. - c.99_102dupAAAT r.(?) p.(Val35Lysfs*28) Parent #2 - likely pathogenic (dominant) g.68191220_68191223dup g.67724503_67724506dup RDH12 c.99_102dupAAAT - RDH12_000140 heterozygous PubMed: Valverde 2009 - - Unknown ? - - - - DNA arraySNP, SEQ blood - retinal disease B237 (04-13) PubMed: Valverde 2009 - - - Spain - - - - - 1 LOVD
+?/. - c.121G>T r.(?) p.(Val41Leu) Unknown - likely pathogenic g.68191242G>T g.67724525G>T - - RDH12_000072 - PubMed: Huang 2017 - - Unknown - - - - - DNA SEQ-NG - WES retinal disease RP-62 PubMed: Huang 2017 family - - China - - - - - 1 LOVD
?/. - c.125T>C r.(?) p.(Val42Ala) Unknown ACMG VUS g.68191246T>C g.67724529T>C RDH12 c.125T>C; p.VaI42AIa - RDH12_000132 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 71 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
?/. - c.125T>C r.(?) p.(Val42Ala) Unknown ACMG VUS g.68191246T>C g.67724529T>C RDH12 c.12ST>C; p.VaI42AIa - RDH12_000132 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 71 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+/. - c.133A>G r.(?) p.(Thr45Ala) Unknown - pathogenic g.68191254A>G g.67724537A>G - - RDH12_000078 - PubMed: Zolnikova 2017 - - Germline - - - - - DNA SEQ-NG - 325-gene panel retinal disease P005 PubMed: Zolnikova 2017 - - - Russia Russia - - - - 1 LOVD
+/. 4 c.133A>G r.(?) p.(Thr45Ala) Both (homozygous) - pathogenic g.68191254A>G - c.133A>G - RDH12_000078 - PubMed: Eisenberger-2013 - - Germline - - - - - DNA SEQ-NG-I, SEQ-NG-R, SEQ blood - retinal disease - PubMed: Eisenberger-2013 - M no Germany - - - - - 1 LOVD
+?/. - c.133A>G r.(?) p.(Thr45Ala) Parent #2 - likely pathogenic g.68191254A>G g.67724537A>G RDH12 Thr45Ala - RDH12_000078 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P18 PubMed: Aleman 2018 - F - - German,Irish, Polish - - - - 1 LOVD
+?/. - c.133dup r.(?) p.(Thr45Asnfs*17) Parent #1 - likely pathogenic g.68191254dup g.67724537dup 133_134insA - RDH12_000073 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 422 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
+?/. 2 c.138C>T r.spl? p.(Gly46=) Unknown - likely pathogenic g.68191259C>T g.67724542C>T RDH12 G46G - RDH12_000141 single heterozygous variant in a recessive disease; no second allele PubMed: Sun 2007 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Sun 2007 - - - - - - - - - 1 LOVD
+?/. - c.139G>A r.(?) p.(Ala47Thr) Both (homozygous) - likely pathogenic (recessive) g.68191260G>A g.67724543G>A - - RDH12_000065 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 15007408 PubMed: Taylor 2017 no family history retinal disease F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.139G>A r.(?) p.(Ala47Thr) Parent #1 - likely pathogenic g.68191260G>A g.67724543G>A - - RDH12_000065 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 10DG1939 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.139G>A r.(?) p.(Ala47Thr) Unknown - likely pathogenic g.68191260G>A g.67724543G>A - - RDH12_000065 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 11DG2422 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/. - c.139G>A r.(?) p.(Ala47Thr) Unknown - likely pathogenic g.68191260G>A g.67724543G>A - - RDH12_000065 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 12DG0773 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
+?/+? 4 c.139G>A r.(?) p.(Ala47Thr) Unknown - likely pathogenic (recessive) g.68191260G>A - A47T - RDH12_000065 - PubMed: Jacobson 2007 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Jacobson 2007 - - - - - - - - - 1 Julia Lopez
?/. 4 c.139G>A r.(?) p.(Ala47Thr) Both (homozygous) - VUS g.68191260G>A - c.139G>A - RDH12_000065 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood autozygome-guided sequencing retinal disease - PubMed: Abu-Safieh-2013 - - - Saudi Arabia - - - - - 1 LOVD
?/. 4 c.139G>A r.(?) p.(Ala47Thr) Both (homozygous) - VUS g.68191260G>A - c.139G>A - RDH12_000065 - PubMed: Abu-Safieh-2013 - - Germline - - - - - DNA SEQ-NG blood autozygome-guided sequencing retinal disease - PubMed: Abu-Safieh-2013 - - - Saudi Arabia - - - - - 3 LOVD
+/. - c.139G>A r.(?) p.(Ala47Thr) Parent #2 ACMG pathogenic g.68191260G>A g.67724543G>A RDH12 NM_152443: g.22658G>A, c.139G>A, p.A47T - RDH12_000065 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 19269 PubMed: Xu 2020 - ? no China - - - - - 1 LOVD
+?/. 4 c.139G>A r.(?) p.(Ala47Thr) Both (homozygous) - likely pathogenic g.68191260G>A g.67724543G>A RDH12:NM_152443:exon4:c.139G>A:p.A47T - RDH12_000065 homozygous PubMed: Chen 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease F21-IV-2 PubMed: Chen 2020 - F - Taiwan - - - - - 1 LOVD
+?/. - c.139G>A r.(?) p.(Ala47Thr) Both (homozygous) - likely pathogenic g.68191260G>A g.67724543G>A RDH12 c.139G>A p.(Ala47Thr) - RDH12_000065 homozygous PubMed: Méjécase 2020 - - Unknown ? - - - - DNA SEQ-NG - retrospective case note review, targeted gene panel testing retinal disease 5 {PMID:Méjécase 2020:3278337 - ? - United Arab Emirates - - - - - 1 LOVD
+?/. 4 c.139G>A r.(?) p.(Ala47Thr) Unknown - likely pathogenic (recessive) g.68191260G>A - c.139G>A - RDH12_000065 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 2 c.139G>A r.(?) p.(Ala47Thr) Paternal (confirmed) - likely pathogenic g.68191260G>A g.67724543G>A RDH12 c.139G>A, p.A47T - RDH12_000065 heterozygous PubMed: Thompson 2005 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease 3069 PubMed: Thompson 2005 - ? - - - - - - - 1 LOVD
+?/. - c.139G>A r.(?) p.(Ala47Thr) Both (homozygous) - likely pathogenic g.68191260G>A g.67724543G>A RDH12 c.139G>A; p.Ala47Thr - RDH12_000065 homozygous PubMed: AlBakri 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease Subject 1 PubMed: AlBakri 2015 Family 1, subject 1 (proband) M - - - - - - - 1 LOVD
+?/. - c.139G>A r.(?) p.(Ala47Thr) Both (homozygous) - likely pathogenic g.68191260G>A g.67724543G>A RDH12 c.139G>A; p.Ala47Thr - RDH12_000065 homozygous PubMed: AlBakri 2015 - - Germline yes - - - - DNA SEQ blood - retinal disease Subject 2 PubMed: AlBakri 2015 Family 1, subject 2 (proband's sister) F - - - - - - - 1 LOVD
+?/. - c.139G>A r.(?) p.(Ala47Thr) Parent #1 - likely pathogenic g.68191260G>A g.67724543G>A RDH12 c.139G>A, Ala47Thr - RDH12_000065 heterozygous PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 27 PubMed: Fahim 2019 - F - United States - - - - - 1 LOVD
+/. - c.146C>A r.(?) p.(Thr49Lys) Maternal (confirmed) ACMG pathogenic (recessive) g.68191267C>A g.67724550C>A c.C146A - RDH12_000079 - PubMed: Zhang 2016 - - Germline - - - - - DNA SEQ-NG - 226-gene panel retinal disease BLM012 PubMed: Zhang 2016 family F - United States Hispanic - - - - 1 LOVD
+?/. - c.146C>A r.(?) p.(Thr49Lys) Both (homozygous) - likely pathogenic g.68191267C>A g.67724550C>A RDH12 c.146C>A, p.T49K - RDH12_000079 homozygous PubMed: Mackay 2011 - - Unknown ? - - - - DNA arraySNP, SEQ blood method of identification: Asper chip retinal disease 7 PubMed: Mackay 2011 - ? no United Kingdom (Great Britain) white - - - - 1 LOVD
+/. 2 c.146C>T r.(?) p.(Thr49Met) Both (homozygous) - pathogenic (recessive) g.68191267C>T g.67724550C>T - - RDH12_000003 - PubMed: Yücelyilmaz 2014 - - Germline yes - - - - DNA SEQ - - LCA FamA PubMed: Yücelyilmaz 2014 2-generation family, 5 affected (F, 4M), unaffected heterozygous carrier parents F;M yes Turkey Turkish - - - - 5 Didem Yücel Yılmaz
+?/. 2 c.146C>T r.(?) p.(Thr49Met) Both (homozygous) - likely pathogenic g.68191267C>T g.67724550C>T - - RDH12_000003 - Sharon, submitted - - Germline - - - - - DNA SEQ - - LCA - Sharon, submitted - F yes Israel Arab-Muslim - - - - 8 Dror Sharon
+/. - c.146C>T r.(?) p.(Thr49Met) Parent #1 - pathogenic g.68191267C>T g.67724550C>T - - RDH12_000003 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - retinal disease - - - M - - - - - - - 1 Marta de Castro-Miró
+/. - c.146C>T r.(?) p.(Thr49Met) Parent #1 - pathogenic g.68191267C>T g.67724550C>T - - RDH12_000003 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs28940314 Germline - 1/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 1 Mohammed Faruq
+?/. - c.146C>T r.(?) p.(Thr49Met) Unknown ACMG likely pathogenic g.68191267C>T - - - RDH12_000003 - 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.146C>T r.(?) p.(Thr49Met) Both (homozygous) - pathogenic g.68191267C>T g.67724550C>T T49M - RDH12_000003 - PubMed: Sanchez-Alcudia 2014 - - Germline - - - - - DNA SEQ - - retinal disease RP-0184PatVII1 PubMed: Sanchez-Alcudia 2014 - M - Spain - - - - - 1 LOVD
+/. 4 c.146C>T r.(?) p.(Thr49Met) Unknown ACMG pathogenic g.68191267C>T g.67724550C>T NM_152443.2:c.146C>T, NP_689656.2:p.(Thr49Met), NC_000014.8:g.68191267C>T - RDH12_000003 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - panel of 441 hereditary eye disease genes including 291 genes related to IRD retinal disease 2016060111 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+/. 4 c.146C>T r.(?) p.(Thr49Met) Unknown - pathogenic g.68191267C>T - c.146C>T - RDH12_000003 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 - - no - - - - - - 1 Julia Lopez
+/. 4 c.146C>T r.(?) p.(Thr49Met) Unknown - pathogenic g.68191267C>T - c.146C>T - RDH12_000003 - PubMed: Wang-2013 - - Unknown - - - - - DNA SEQ-NG blood - retinal disease - PubMed: Wang-2013 - - no - - - - - - 1 Julia Lopez
+/. 4 c.146C>T r.(?) p.(Thr49Met) Both (homozygous) - pathogenic g.68191267C>T - c.146C>T - RDH12_000003 - PubMed: Beryozkin-2014 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Beryozkin-2014 - - yes - East-Jerusalem/Arab-Muslim - - - - 8 LOVD
+?/. - c.146C>T r.(?) p.(Thr49Met) Parent #1 - likely pathogenic g.68191267C>T g.67724550C>T RDH12, variant 1: c.146C>T/p.T49M, variant 2: c.146C>T/p.T49M - RDH12_000003 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET9 targeted sequencing panel - see paper retinal disease 920 PubMed: Weisschuh 2020 Filing key number: 393, autosomal recessive retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+?/. - c.146C>T r.(?) p.(Thr49Met) Parent #1 - likely pathogenic g.68191267C>T g.67724550C>T RDH12, variant 1: c.146C>T/p.T49M, variant 2: c.451C>G/p.H151D - RDH12_000003 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 1083 PubMed: Weisschuh 2020 Filing key number: 715, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
?/. - c.146C>T r.(?) p.(Thr49Met) Unknown ACMG VUS g.68191267C>T g.67724550C>T RDH12 c.146C>T; p.Thr49Met - RDH12_000003 heterozygous PubMed: Sallum 2020 - - Unknown ? - - - - DNA ? blood 224 gene IRD panel 93 patients, 280–300 gene IRD panel 21 patients, 20 gene LCA panel 20 patients, from whole exome 1 patient, SNP array 10 patients, Sanger Sequencing from one gene analysis 2 patien retinal disease 70 PubMed: Sallum 2020 - ? - Brazil - - - - - 1 LOVD
+?/. 4 c.146C>T r.(?) p.(Thr49Met) Unknown - likely pathogenic (recessive) g.68191267C>T - c.146C>T - RDH12_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 4 c.146C>T r.(?) p.(Thr49Met) Both (homozygous) - likely pathogenic (recessive) g.68191267C>T - c.146C>T - RDH12_000003 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. - c.146C>T r.(?) p.(Thr49Met) Unknown ACMG likely pathogenic g.68191267C>T g.67724550C>T RDH12 c.146C>T(;)806C>G, V1: c.146C>T, (p.Thr49Met) - RDH12_000003 alleles in cis or trans; heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F110 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
+?/. 2 c.146C>T r.(?) p.(Thr49Met) Parent #1 - likely pathogenic g.68191267C>T g.67724550C>T RDH12 T49M - RDH12_000003 dramatic reduction in the ability to produce all-trans-retinol from all-trans-retinal (~95% less); heterozygous PubMed: Sun 2007 - - Unknown ? - - - - DNA SEQ blood - retinal disease Patient 1 PubMed: Sun 2007 - - - Italy - - - - - 1 LOVD
+?/. - c.146C>T r.(?) p.(Thr49Met) Both (homozygous) - likely pathogenic (dominant) g.68191267C>T g.67724550C>T RDH12 T49M - RDH12_000003 homozygous PubMed: Valverde 2009 - - Unknown ? - - - - DNA arraySNP, SEQ blood - retinal disease M184 PubMed: Valverde 2009 - - - Spain - - - - - 1 LOVD
+?/. - c.146C>T r.(?) p.(Thr49Met) Unknown - likely pathogenic g.68191267C>T g.67724550C>T RDH12 T49M - RDH12_000003 mutation significantly raises the apparent Km values of RDH12 for nucleotide cofactors; statistically significant improvement in the conversion of retinaldehyde to retinol after treatment with MG132 was observed in the cells containing T49M (but not I51N) PubMed: Lee 2011 - - In vitro (cloned) ? - - - - DNA SEQ blood - retinal disease ? PubMed: Lee 2011 cell line - - - - - - - - 1 LOVD
+?/. - c.146C>T r.(?) p.(Thr49Met) Both (homozygous) - likely pathogenic g.68191267C>T g.67724550C>T RDH12 c.146C>T, p.T49M - RDH12_000003 homozygous PubMed: Mackay 2011 - - Unknown ? - - - - DNA SEQ blood method of identification: Phenotype retinal disease 23 PubMed: Mackay 2011 - ? - - Gujurati Hindu - - - - 1 LOVD
+?/. - c.146C>T r.(?) p.(Thr49Met) Parent #2 - likely pathogenic g.68191267C>T g.67724550C>T RDH12 Thr49Met - RDH12_000003 no nucleotide written, extrapolated from protein and databases; heterozygous PubMed: Aleman 2018 - - Unknown ? - - - - DNA ? saliva - retinal disease P13 PubMed: Aleman 2018 - F - - German,Irish, English,Italian - - - - 1 LOVD
+?/. - c.146C>T r.(?) p.(Thr49Met) Parent #1 - likely pathogenic g.68191267C>T g.67724550C>T RDH12 c.146 C>T, Thr49Met - RDH12_000003 heterozygous PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 4 PubMed: Fahim 2019 - F - United States - - - - - 1 LOVD
+?/. - c.146C>T r.(?) p.(Thr49Met) Parent #1 - likely pathogenic g.68191267C>T g.67724550C>T RDH12 c.146 C>T, Thr49Met - RDH12_000003 single heterozygous variant PubMed: Fahim 2019 - - Unknown ? - - - - RNA RT-PCR, SEQ blood - retinal disease 30 PubMed: Fahim 2019 - F - United States - - - - - 1 LOVD
+?/. - c.146C>T r.(?) p.(Thr49Met) Both (homozygous) ACMG pathogenic g.68191267C>T g.67724550C>T RDH12 c.146C>T, p.Thr49Met - RDH12_000003 homozygous PubMed: Scott 2020 - - Germline yes - - - - DNA ? - - retinal disease OGI1611-2841 PubMed: Scott 2020 - M - United States - - - - - 1 LOVD
+?/. - c.146C>T r.(?) p.(Thr49Met) Both (homozygous) ACMG pathogenic g.68191267C>T g.67724550C>T RDH12 c.146C>T, p.Thr49Met - RDH12_000003 homozygous PubMed: Scott 2020 - - Germline yes - - - - DNA ? - - retinal disease OGI3077-4669 PubMed: Scott 2020 - M - United States - - - - - 1 LOVD
+?/. - c.146C>T r.(?) p.(Thr49Met) Unknown - likely pathogenic g.68191267C>T g.67724550C>T RDH12 c.146C>T(;)806C>G; p.(Thr49Met) - RDH12_000003 heterozygous PubMed: Chen 2021 - - Germline/De novo (untested) ? Taiwan Biobank: 0.000330; GnomAD_exome_East: 0.0000544; GnomAD_All: 0.0000159 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F110 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. 4 c.146C>T r.(?) p.(Thr49Met) Parent #1 - pathogenic g.68191267C>T - c.146C>T - RDH12_000003 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing RP - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+/. - c.148G>A r.(?) p.(Gly50Ser) Parent #2 - pathogenic g.68191269G>A g.67724552G>A - - RDH12_000039 - - - - Germline - - - - - DNA SEQ-NG-I Peripheral blood - retinal disease - - - M - - - - - - - 1 Marta de Castro-Miró
+/. 4 c.148G>A r.(?) p.(Gly50Ser) Parent #1 ACMG pathogenic g.68191269G>A g.67724552G>A - - RDH12_000039 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 070804 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. 4 c.151A>T r.(?) p.(Ile51Phe) Both (homozygous) ACMG VUS (!) g.68191272A>T - - - RDH12_000062 ACMG: PM2, PM5, PP3 class 3 - - - Germline ? - - - - DNA SEQ-NG-I - - LCA13;RP53 172672 - - M - - - - - - - 1 Andreas Laner
+?/. 2 c.152T>A r.(?) p.(Ile51Asn) Paternal (confirmed) - likely pathogenic g.68191273T>A g.67724556T>A RDH12 c.152T>A, p.Ile51Asn - RDH12_000142 heterozygous PubMed: Perrault 2004 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease family 1, individual II-3 PubMed: Perrault 2004 family 1, individual II-3 (proband) M no France - - - - - 1 LOVD
+?/. - c.152T>A r.(?) p.(Ile51Asn) Both (homozygous) - likely pathogenic g.68191273T>A g.67724556T>A RDH12 I51N - RDH12_000142 mutation significantly raises the apparent Km values of RDH12 for nucleotide cofactors PubMed: Lee 2011 - - In vitro (cloned) ? - - - - DNA SEQ blood - retinal disease ? PubMed: Lee 2011 cell line - - - - - - - - 1 LOVD
+?/. - c.152T>C r.(?) p.(Ile51Thr) Unknown - likely pathogenic g.68191273T>C g.67724556T>C - - RDH12_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.152T>C r.(?) p.(Ile51Thr) Unknown - pathogenic g.68191273T>C g.67724556T>C - - RDH12_000027 - PubMed: Haer-Wigman 2017 - - Germline - - - - - DNA SEQ-NG - gene panel ? 838 PubMed: Haer-Wigman 2017 patient - no Netherlands - - - - - 1 LOVD
Legend   How to query   « First ‹ Prev     1 2 3 4 5 6 7 8 9     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.