Full data view for gene TRPM1

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

426 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     
+?/. - c.-133_*761{0} r.? p.? Parent #2 - likely pathogenic (recessive) g.(?_31293264)_(31393929_?)del g.(?_31001061)_(31101726_?)del 15q13.3 microdeletion encompassing TRPM1 - TRPM1_000116 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 15019760 PubMed: Taylor 2017 no family history retinal disease M - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. - deletion of exon 2-7 r.(?) p.? Unknown - VUS g.? g.? TRPM1 deletion of exon 2-7, no functional protein - IGF1R_000000 heterozygous PubMed: Utz 2018 - - Unknown ? 0/192 control chromosomes - - - DNA ? - retrospective medical record review retinal disease Patient 6 PubMed: Utz 2018 - ? - - - - - - - 1 LOVD
./. - c.-1528083_*628880del r.? p.? Maternal (confirmed) - pathogenic g.30665145_32921879del - - - ARHGAP11A_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected parents M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
./. - c.-1528083_*909821del r.? p.? Unknown - pathogenic g.30384204_32921879del - - - ARHGAP11A_000002 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected and affected2nd degree relatives M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
./. - c.-1320193_*380459del r.? p.? Paternal (confirmed) - pathogenic g.30913566_32713989del - - - ARHGAP11B_000001 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, affected sibling(s) M - United Kingdom (Great Britain) - - - Decipher - 2 Johan den Dunnen
-/. - c.-59368A>G r.(?) p.(=) Unknown - benign g.31453164T>C g.31160961T>C TRPM1(NM_001252020.2):c.-2A>G - TRPM1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-59342C>T r.(?) p.(=) Unknown - likely benign g.31453138G>A g.31160935G>A TRPM1(NM_001252020.1):c.25C>T (p.(Leu9Phe)) - TRPM1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-59340C>T r.(?) p.(=) Unknown - likely benign g.31453136G>A g.31160933G>A TRPM1(NM_001252020.1):c.27C>T (p.L9=), TRPM1(NM_001252020.2):c.27C>T (p.L9=) - TRPM1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-59340C>T r.(?) p.(=) Unknown - benign g.31453136G>A g.31160933G>A TRPM1(NM_001252020.1):c.27C>T (p.L9=), TRPM1(NM_001252020.2):c.27C>T (p.L9=) - TRPM1_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-59332C>T r.(?) p.(=) Unknown - VUS g.31453128G>A g.31160925G>A TRPM1(NM_001252020.1):c.35C>T (p.S12F) - TRPM1_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-82_899del r.? p.? Unknown ACMG pathogenic g.31355203-31391647del - c.-82_899del - TRPM1_000108 - PubMed: Sharon 2019 - - Germline - 12/2420 IRD families - - - DNA SEQ - - retinal disease - PubMed: Sharon 2019 12 IRD families - - Israel - - - - - 12 Global Variome, with Curator vacancy
+?/. _2_7_ c.-64+2213_899+118del r.0 p.0 Both (homozygous) - likely pathogenic (recessive) g.31355205_31391649del g.31063002_31099446del TRPM1 chr15: 31355203-31391647del, no functional protein - MIR211_000001 homozygous PubMed: van Genderen 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease 1 PubMed: van Genderen 2009 Family 1 index case F - - - - - - - 1 LOVD
+?/. - c.-64+2213_899+118del r.(?) p.? Both (homozygous) ACMG pathogenic g.31355205_31391649del g.31063002_31099446del TRPM1 chr15: 31355203- 31391647del - MIR211_000001 homozygous PubMed: AlTalbishi 2019 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease MOL0079-1 PubMed: AlTalbishi 2019 - M no Israel Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.-64+2213_899+118del r.(?) p.? Both (homozygous) ACMG pathogenic g.31355205_31391649del g.31063002_31099446del TRPM1 chr15: 31355203- 31391647del - MIR211_000001 homozygous PubMed: AlTalbishi 2019 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease MOL0132-1 PubMed: AlTalbishi 2019 - F no Israel Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.-64+2213_899+118del r.(?) p.? Both (homozygous) ACMG pathogenic g.31355205_31391649del g.31063002_31099446del TRPM1 chr15: 31355203- 31391647del - MIR211_000001 homozygous PubMed: AlTalbishi 2019 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease MOL0362-1 PubMed: AlTalbishi 2019 - M no Israel Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.-64+2213_899+118del r.(?) p.? Both (homozygous) ACMG pathogenic g.31355205_31391649del g.31063002_31099446del TRPM1 chr15: 31355203- 31391647del - MIR211_000001 homozygous PubMed: AlTalbishi 2019 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease MOL0611-1 PubMed: AlTalbishi 2019 - M no Israel Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.-64+2213_899+118del r.(?) p.? Both (homozygous) ACMG pathogenic g.31355205_31391649del g.31063002_31099446del TRPM1 chr15: 31355203- 31391647del - MIR211_000001 homozygous PubMed: AlTalbishi 2019 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease MOL0614-1 PubMed: AlTalbishi 2019 - F no Israel Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.-64+2213_899+118del r.(?) p.? Both (homozygous) ACMG pathogenic g.31355205_31391649del g.31063002_31099446del TRPM1 chr15: 31355203- 31391647del - MIR211_000001 homozygous PubMed: AlTalbishi 2019 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease MOL0720-1 PubMed: AlTalbishi 2019 - M no Israel Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.-64+2213_899+118del r.(?) p.? Both (homozygous) ACMG pathogenic g.31355205_31391649del g.31063002_31099446del TRPM1 chr15: 31355203- 31391647del - MIR211_000001 homozygous PubMed: AlTalbishi 2019 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease MOL0903-1 PubMed: AlTalbishi 2019 - M no Israel Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.-64+2213_899+118del r.(?) p.? Both (homozygous) ACMG pathogenic g.31355205_31391649del g.31063002_31099446del TRPM1 chr15: 31355203- 31391647del - MIR211_000001 homozygous PubMed: AlTalbishi 2019 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease MOL0976-1 PubMed: AlTalbishi 2019 - M no Israel Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.-64+2213_899+118del r.(?) p.? Both (homozygous) ACMG pathogenic g.31355205_31391649del g.31063002_31099446del TRPM1 chr15: 31355203- 31391647del - MIR211_000001 homozygous PubMed: AlTalbishi 2019 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease MOL1613-1 PubMed: AlTalbishi 2019 - M no Israel Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.-64+2213_899+118del r.(?) p.? Both (homozygous) ACMG pathogenic g.31355205_31391649del g.31063002_31099446del TRPM1 chr15: 31355203- 31391647del - MIR211_000001 homozygous PubMed: AlTalbishi 2019 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease RD206-1 PubMed: AlTalbishi 2019 - F no Israel Ashkenazi Jewish - - - - 1 LOVD
+?/. - c.-64+2213_899+118del r.(?) p.? Both (homozygous) ACMG pathogenic g.31355205_31391649del g.31063002_31099446del TRPM1 chr15: 31355203- 31391647del - MIR211_000001 homozygous PubMed: AlTalbishi 2019 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease RD356-1 PubMed: AlTalbishi 2019 - F - Israel Ashkenazi Jewish - - - - 1 LOVD
-?/. - c.-63-4459C>G r.(=) p.(=) Unknown - likely benign g.31373646G>C - TRPM1(NM_001252024.2):c.-83-5C>G - TRPM1_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-63-4457T>A r.(=) p.(=) Unknown - likely benign g.31373644A>T - TRPM1(NM_001252024.2):c.-83-3T>A - TRPM1_000229 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1i_7i c.(-64+1_-63-1)_(899+1_900-1)del r.? p.? Both (homozygous) - pathogenic g.(31354906_31355320)_(31369188_31393859)del - ex 2-7del - TRPM1_000028 - Sharon, submitted - - Germline - - - - - DNA SEQ - - CSNB - Sharon, submitted - M no Israel Jewish-Ashkenazi - - - - 2 Dror Sharon
?/. - c.-27C>T r.(?) p.(=) Unknown - VUS g.31369151G>A - TRPM1(NM_001252020.1):c.91C>T (p.R31W) - TRPM1_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-27C>T r.? p.? Parent #1 - pathogenic (recessive) g.31369151G>A g.31076948G>A 1-27C>T - TRPM1_000136 - PubMed: Van Huet 2015 - - Germline - - - - - DNA PE, SEQ - APEX retinal disease - PubMed: Van Huet 2015 - - - Netherlands - - - - - 1 LOVD
?/. - c.-5C>T r.(?) p.(=) Unknown - VUS g.31369129G>A - TRPM1(NM_001252020.1):c.113C>T (p.P38L) - TRPM1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.(?_-1)_(*1_?)del) r.0 p.0 Unknown - likely pathogenic g.? g.? TRPM1;NM_002420.5;c.[2951G>A]p.[(Arg984His)]Heterozygous;(microarrayidentifieda15q13.3microdeletionreportedinthelossoftheTRPM1gene;NM_002420.5;c.(?_-1)_(*1_?)de - IGF1R_000000 compound heterozygous PubMed: Jiman 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 176 genes panel retinal disease 63 PubMed: Jiman 2020 - M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. _2_27_ c.(?_-63-1)_*761{0} r.0? p.0? Unknown - likely pathogenic g.(?_31294020)_(31369129_?)del - c.(?_?1)_(*1_?)del - TRPM1_000175 - PubMed: Ellingsford 2018 - - Germline - - - - - DNA SEQ-NG - CNV gene panel next-generation sequencing retinal disease 15010656 PubMed: Ellingsford 2018 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.0? r.0? p.(?) Unknown - likely pathogenic g.30917982_32535329del g.30625778_32243125del TRPM1 chr15:30917982_32535329del - TRPM1_000172 ARHGAP11B, HERC2P10, FAN1, TRPM1, KLF13, OTUD7A, CHRNA7, range 159136-1617347 bp in various techniques, heterozygous PubMed: Zampaglione 2020 - - Unknown ? - - - - DNA SEQ-NG-I, PCRq blood - retinal disease OGI1081_002135 PubMed: Zampaglione 2020 - ? - - - - - - - 1 LOVD
+?/. - c.0? r.0 p.0 Unknown - likely pathogenic g.? g.? TRPM1 undefined large deletion encompassing TRPM1, lack of protein - IGF1R_000000 heterozygous PubMed: Utz 2018 - - Unknown ? 0/192 control chromosomes - - - DNA ? - retrospective medical record review retinal disease Patient 7 PubMed: Utz 2018 - ? - - - - - - - 1 LOVD
+/. - c.? r.? p.? Unknown - pathogenic g.? - 1846-8C>G - IGF1R_000000 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat3 PubMed: Costa 2017 - M - Brazil - - - - - 1 LOVD
+/. - c.? r.? p.? Unknown - pathogenic g.? - 1453G>C (Glu485Gln) - IGF1R_000000 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat3 PubMed: Costa 2017 - M - Brazil - - - - - 1 LOVD
+?/. - c.? r.? p.? Parent #1 - likely pathogenic g.? - chr15: 31355203-31391647del - IGF1R_000000 no genotype reported PubMed: Zeitz 2015 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - United States - - - - - 1 LOVD
+?/. - c.? r.? p.? Parent #1 - likely pathogenic g.? - chr15: 31355203-31391647del - IGF1R_000000 no genotype reported PubMed: Zeitz 2015 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - United States - - - - - 1 LOVD
+/. - c.? r.spl? p.? Unknown - pathogenic g.31355203_31391647del - chr15:31355203-31391647del - IGF1R_000000 - PubMed: Bijveld 2013 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Bijveld-2013 - F - Netherlands Dutch - - - - 1 Julia Lopez
+?/. 2 c.1-27C>T r.(?) p.? Both (homozygous) - likely pathogenic g.31369151G>A g.31076948G>A TRPM1 c.1-27C>T (70+TRPM1), 50 UTR expression defect - TRPM1_000136 different transcript - NM_001252024.1(TRPM1):c.40C>T, p.(Arg14Trp); homozygous; not certain which transcript makes it causative PubMed: Audo 2009 - - Germline ? 0/348 control alleles - - - DNA SEQ blood - retinal disease family 7, patient D0704708 , II-3 PubMed: Audo 2009 family 7, proband (families not named, consacutive numbers given) - - Belgium Flemish-Belgian - - - - 1 LOVD
-/. - c.2T>C r.(?) p.(Met1?) Unknown - benign g.31369123A>G g.31076920A>G - - TRPM1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2_3inv r.(?) p.(Met1?) Unknown - likely pathogenic g.31369122_31369123inv g.31076919_31076920inv - - TRPM1_000142 - PubMed: Patel 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 12DG0406 PubMed: Patel 2016 - - - Saudi Arabia - - - - - 1 LOVD
-/. - c.18-16_18-15insAGACAAAGATATCACAAGATAGAAAACTATAGAACAATATCTATTACGAACATGGG r.(=) p.(=) Unknown - benign g.31362444_31362445insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCT g.31070241_31070242insCCCATGTTCGTAATAGATATTGTTCTATAGTTTTCTATCTTGTGATATCTTTGTCT TRPM1(NM_001252020.2):c.135-16_135-15ins56 - TRPM1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.18-3C>G r.(?) p.? Maternal (confirmed) - likely pathogenic g.31362432G>C g.31070229G>C TRPM1 IVS3-3C>G - TRPM1_000206 heterozygous PubMed: Nakamura 2010 - - Germline yes 0/100 Japanese normal controls - - - DNA SEQ blood - retinal disease patient #373 PubMed: Nakamura 2010 - M - Japan Japanese - - - - 1 LOVD
+?/. - c.20G>A r.(?) p.(Cys7Tyr) Parent #1 - likely pathogenic g.31362427C>T g.31070224C>T - - TRPM1_000152 no genotype reported PubMed: Zeitz 2015 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. 3 c.31C>T r.(?) p.(Gln11Ter) Maternal (confirmed) - likely pathogenic g.31362416G>A g.31070213G>A TRPM1 c.31C>T, p.Gln11X - TRPM1_000205 heterozygous PubMed: Audo 2009 - - Germline yes 0/352 control alleles - - - DNA SEQ blood - retinal disease family 10, patient 4497, II-1 PubMed: Audo 2009 family 10, proband (families not named, consacutive numbers given) - - Germany German - - - - 1 LOVD
?/. 3 c.40C>T r.(?) p.(Arg14Trp) Parent #1 - VUS g.31362407G>A - c.40C>T - TRPM1_000221 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing retinal disease - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
+?/. - c.54_71del r.(?) p.(Leu20_Pro25del) Parent #1 - likely pathogenic g.31362377_31362394del g.31070174_31070191del 53_54+16delAGGTGAGTGAGCTTTGCC - TRPM1_000140 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 481 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
-?/. - c.78C>A r.(?) p.(Ser26Arg) Unknown - likely benign g.31362369G>T - TRPM1(NM_001252020.1):c.195C>A (p.S65R) - TRPM1_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 3 c.83del r.(?) p.(Asn28Metfs*62) Unknown - pathogenic g.31362364del - c.83delA - TRPM1_000166 - PubMed: Bijveld 2013 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Bijveld-2013 - F - Netherlands Dutch - - - - 1 Julia Lopez
+?/. 3 c.83delA r.(?) p.(Asn28MetfsTer62) Paternal (confirmed) - likely pathogenic (recessive) g.31362368del g.31070165del TRPM1 c.83delA, p.Asn28MetfsX62 - TRPM1_000204 compound heterozygous PubMed: van Genderen 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease 2 PubMed: van Genderen 2009 Family 2 index case F - - - - - - - 1 LOVD
-/. - c.95G>A r.(?) p.(Ser32Asn) Unknown - benign g.31362352C>T g.31070149C>T - - TRPM1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 3 c.191G>C r.(?) p.(Trp64Ser) Parent #1 - VUS g.31362256C>G - c.191G>C - TRPM1_000220 - PubMed: Panneman 2023 - - Unknown - - - - - DNA SEQ - RP-LCA smMIPs sequencing retinal disease - PubMed: Panneman 2023 - F - - - - - - - 1 Daan Panneman
-?/. - c.192C>T r.(?) p.(Gly64=) Unknown - likely benign g.31362255G>A - TRPM1(NM_001252020.2):c.309C>T (p.G103=) - TRPM1_000214 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.213+86G>C r.(=) p.(=) Unknown - benign g.31362148C>G g.31069945C>G TRPM1(NM_001252030.1):c.299G>C (p.G100A) - TRPM1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.213+147T>G r.(=) p.(=) Unknown - VUS g.31362087A>C g.31069884A>C TRPM1(NM_001252030.2):c.360T>G (p.Y120*) - TRPM1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.215A>G r.(?) p.(Tyr72Cys) Unknown - VUS g.31360294T>C - TRPM1(NM_001252020.1):c.332A>G (p.Y111C) - TRPM1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.215A>G r.(?) p.(Tyr72Cys) Unknown - VUS g.31360294T>C g.31068091T>C - - TRPM1_000134 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD20–03 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
+?/. - c.215A>G r.(?) p.(Tyr72Cys) Parent #2 - likely pathogenic g.31360294T>C g.31068091T>C - - TRPM1_000134 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 481 PubMed: Stone 2017 family, 2 affected M - (United States) - - - - - 2 LOVD
+?/. - c.215A>G r.(?) p.(Tyr72Cys) Parent #1 - likely pathogenic g.31360294T>C g.31068091T>C - - TRPM1_000134 no genotype reported PubMed: Zeitz 2015 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - Belgium - - - - - 1 LOVD
+?/. - c.215A>G r.(?) p.(Tyr72Cys) Both (homozygous) ACMG likely pathogenic g.31360294T>C g.31068091T>C GRK1 c.1384C>T, p.(Gln462*), c.1384C>T, p.(Gln462*), TRPM1 c.215A>G, p.(Tyr72Cys), c.215A>G, p.(Tyr72Cys) - TRPM1_000134 homozygous PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 138 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.215A>G r.(?) p.(Tyr72Cys) Unknown ACMG likely pathogenic g.31360294T>C g.31068091T>C PRPF31 c.1336T>C, p.(Ser446Pro), TRPM1 c.215A>G, p.(Tyr72Cys) - TRPM1_000134 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 441 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. 4 c.215A>G r.(?) p.(Tyr72Cys) Paternal (inferred) - likely pathogenic g.31360294T>C g.31068091T>C TRPM1 c.215A>G, p.Tyr72Cys - TRPM1_000134 heterozygous PubMed: Audo 2009 - - Germline yes 0/210 control alleles - - - DNA SEQ blood - retinal disease family 4, patient CIC00612 PubMed: Audo 2009 family 4, proband (families not named, consacutive numbers given) - - France French - - - - 1 LOVD
+?/. 4 c.215A>G r.(?) p.(Tyr72Cys) Paternal (confirmed) - likely pathogenic g.31360294T>C g.31068091T>C TRPM1 c.215A>G, p.Tyr72Cys - TRPM1_000134 heterozygous PubMed: Audo 2009 - - Germline yes 0/210 control alleles - - - DNA SEQ blood - retinal disease family 5, patient 23625, II-3 PubMed: Audo 2009 family 5, proband (families not named, consacutive numbers given) - - Switzerland Italian - - - - 1 LOVD
+?/. - c.215A>G r.spl p.(Tyr72Cys) Both (homozygous) - likely pathogenic g.31360294T>C g.31068091T>C TRPM1 c.215A>G, p.Y72C - TRPM1_000134 homozygous PubMed: Utz 2018 - - Unknown ? 0/192 control chromosomes - - - DNA ? - retrospective medical record review retinal disease Patient 3 PubMed: Utz 2018 - ? - - - - - - - 1 LOVD
+?/. - c.215A>G r.spl p.(Tyr72Cys) Both (homozygous) - likely pathogenic g.31360294T>C g.31068091T>C TRPM1 c.215A>G, p.Y72C - TRPM1_000134 homozygous PubMed: Utz 2018 - - Unknown ? 0/192 control chromosomes - - - DNA ? - retrospective medical record review retinal disease Patient 4 PubMed: Utz 2018 - ? - - - - - - - 1 LOVD
+?/. 4 c.215A>G r.(?) p.(Tyr72Cys) Maternal (confirmed) ACMG likely pathogenic g.31360294T>C g.31068091T>C 31362298T>C - TRPM1_000134 - - - - Germline yes - - - - DNA SEQ-NG - - CSNB - - 3-generation family, affected mother and elder sibling F no India Asian >13y - yes none 2 Srilekha Sundar
+/. - c.215A>G r.(?) p.(Tyr72Cys) Unknown ACMG pathogenic g.31360294T>C g.31068091T>C TRPM1 c.215A>G, p.(Tyr72Cys) - TRPM1_000134 different transcript, NM_002420.4(TRPM1):c.215A>G is NM_001252024.1:c.281A>G, p.(Tyr94Cys); compound heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 23_26 PubMed: Zhu 2022 family 23, individual 26 F - - - - - - - 1 LOVD
+/. - c.215A>G r.(?) p.(Tyr72Cys) Unknown ACMG pathogenic g.31360294T>C g.31068091T>C TRPM1 c.215A>G, p.(Tyr72Cys) - TRPM1_000134 different transcript, NM_002420.4(TRPM1):c.215A>G is NM_001252024.1:c.281A>G, p.(Tyr94Cys); compound heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 26_29 PubMed: Zhu 2022 family 26, individual 29 F - - - - - - - 1 LOVD
+/. - c.215A>G r.(?) p.(Tyr72Cys) Unknown ACMG pathogenic g.31360294T>C g.31068091T>C TRPM1 c.215A>G, p.(Tyr72Cys) - TRPM1_000134 different transcript, NM_002420.4(TRPM1):c.215A>G is NM_001252024.1:c.281A>G, p.(Tyr94Cys); compound heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 26_30 PubMed: Zhu 2022 family 26, individual 30 M - - - - - - - 1 LOVD
+?/. - c.215A>G r.(?) p.(Tyr72Cys) Unknown - likely pathogenic g.31360294T>C - TRPM1(NM_001252020.1):c.332A>G (p.Y111C) - TRPM1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.215A>G r.(?) p.(Tyr72Cys) Maternal (confirmed) ACMG likely pathogenic (recessive) g.31360294T>C g.31068091T>C - - TRPM1_000134 ACMG PP3, PM2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CSNB-153 PubMed: Weisschuh 2024 patient F - Germany - - - - - 1 Johan den Dunnen
+?/. - c.220C>T r.(?) p.(Arg74Cys) Unknown - likely pathogenic g.31360289G>A g.31068086G>A TRPM1(NM_001252020.1):c.337C>T (p.R113C) - TRPM1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.220C>T r.(?) p.(Arg74Cys) Unknown - pathogenic g.31360289G>A - c.220C>T - TRPM1_000091 - PubMed: Bijveld 2013 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Bijveld-2013 - F - Netherlands Dutch - - - - 1 Julia Lopez
?/. - c.220C>T r.(?) p.(Arg74Cys) Unknown - VUS g.31360289G>A - TRPM1(NM_001252020.1):c.337C>T (p.R113C) - TRPM1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.220C>T r.(?) p.(Arg74Cys) Unknown - likely pathogenic (recessive) g.31360289G>A g.31068086G>A TRPM1 c.220C>T [p.R74C] - TRPM1_000091 heterozygous PubMed: Li 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease - PubMed: Li 2009 Family 3 index case F - - - - - - - 1 LOVD
+?/. - c.220C>T r.(?) p.(Arg74Cys) Unknown - likely pathogenic (recessive) g.31360289G>A g.31068086G>A TRPM1 c.220C>T [p.R74C] - TRPM1_000091 heterozygous PubMed: Li 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease - PubMed: Li 2009 Family 3 index case's brother M - - - - - - - 1 LOVD
+?/. 4 c.220C>T r.(?) p.(Arg74Cys) Maternal (confirmed) - likely pathogenic (recessive) g.31360289G>A g.31068086G>A TRPM1 c.220C>T, p.Arg74Cys - TRPM1_000091 compound heterozygous PubMed: van Genderen 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease 4 PubMed: van Genderen 2009 Family 4 index case F - - - - - - - 1 LOVD
+?/. - c.245_250delinsGTGAAAGAT r.(?) p.(Asp82_Ser83delinsGlyGluArg) Both (homozygous) - likely pathogenic g.31360259_31360264delinsATCTTTCAC g.31068056_31068061delinsATCTTTCAC Allele 1 c.245_250delinsGTGAAAGAT (p.Asp82_SerdelinsGlyGluArg), Allele 2 c.245_250delinsGTGAAAGAT (p.Asp82_SerdelinsGlyGluArg) - TRPM1_000171 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - M - - - - - - - 1 LOVD
+/. 4 c.296T>A r.(?) p.(Leu99His) Unknown - pathogenic g.31360213A>T - c.296T>A - TRPM1_000165 - PubMed: Bijveld 2013 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Bijveld-2013 - F - Netherlands Dutch - - - - 1 Julia Lopez
+?/. - c.296T>C r.(?) p.(Leu99Pro) Parent #2 - likely pathogenic (recessive) g.31360213A>G g.31068010A>G - - TRPM1_000129 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 16004916 PubMed: Taylor 2017 no family history retinal disease F - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.296T>C r.(?) p.(Leu99Pro) Parent #2 - likely pathogenic g.31360213A>G g.31068010A>G - - TRPM1_000129 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 480 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+?/. - c.296T>C r.(?) p.(Leu99Pro) Parent #1 - likely pathogenic g.31360213A>G g.31068010A>G - - TRPM1_000129 no genotype reported PubMed: Zeitz 2015 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Zeitz 2015 - - - United States - - - - - 1 LOVD
+?/. - c.296T>C r.(?) p.(Leu99Pro) Unknown - likely pathogenic g.31360213A>G - TRPM1(NM_001252020.2):c.413T>C (p.L138P) - TRPM1_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.296T>C r.(?) p.(Leu99Pro) Unknown - VUS g.31360213A>G g.31068010A>G TRPM1 nucleotide 1, protein 1:c.296T>C, p.Leu99Pro nucleotide 2, protein 2:c.3067G>A, p.Ala1023Thr - TRPM1_000129 heterozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 87 PubMed: Hull 2020 - ? - New Zealand white - - - - 1 LOVD
+?/. 4 c.296T>C r.(?) p.(Leu99Pro) Parent #1 - likely pathogenic (recessive) g.31360213A>G g.31068010A>G TRPM1 c.296T>C, p.Leu99Pro - TRPM1_000129 compound heterozygous PubMed: van Genderen 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease 3 PubMed: van Genderen 2009 Family 3 index case F - - - - - - - 1 LOVD
+?/. 4 c.296T>C r.(?) p.(Leu99Pro) Paternal (confirmed) - likely pathogenic g.31360213A>G g.31068010A>G TRPM1 c.296T>C, p.Leu99Pro - TRPM1_000129 heterozygous PubMed: Audo 2009 - - Germline yes 0/224 control alleles - - - DNA SEQ blood - retinal disease family 10, patient 4497, II-1 PubMed: Audo 2009 family 10, proband (families not named, consacutive numbers given) - - Germany German - - - - 1 LOVD
+?/. - c.296T>C r.spl p.(Leu99Pro) Unknown - likely pathogenic g.31360213A>G g.31068010A>G TRPM1 c.296T>C, p.L99P, - TRPM1_000129 heterozygous PubMed: Utz 2018 - - Unknown ? 0/192 control chromosomes - - - DNA ? - retrospective medical record review retinal disease Patient 5 PubMed: Utz 2018 - ? - - - - - - - 1 LOVD
+/. - c.296T>C r.(?) p.(Leu99Pro) Unknown ACMG pathogenic g.31360213A>G g.31068010A>G TRPM1 c.296T>C, p.(Leu99Pro) - TRPM1_000129 different transcript, NM_002420.4(TRPM1):c.296T>C is NM_001252024.1(TRPM1):c.362T>C, p.(Leu121Pro); compound heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 26_29 PubMed: Zhu 2022 family 26, individual 29 F - - - - - - - 1 LOVD
+/. - c.296T>C r.(?) p.(Leu99Pro) Unknown ACMG pathogenic g.31360213A>G g.31068010A>G TRPM1 c.296T>C, p.(Leu99Pro) - TRPM1_000129 different transcript, NM_002420.4(TRPM1):c.296T>C is NM_001252024.1(TRPM1):c.362T>C, p.(Leu121Pro); compound heterozygous, probably causal PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 26_30 PubMed: Zhu 2022 family 26, individual 30 M - - - - - - - 1 LOVD
?/. - c.296T>C r.(?) p.(Leu99Pro) Unknown ACMG VUS g.31360213A>G g.31068010A>G - - TRPM1_000129 ACMG PM2, PP5 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? SRP-1282 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.314G>A r.(?) p.(Gly105Glu) Unknown - pathogenic (recessive) g.31360195C>T - 15:31360195C>T ENST00000542188.1:c.431G>A (Gly144Glu) - TRPM1_000128 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WES retinal disease B240273 PubMed: Carss 2017 - F - United Kingdom (Great Britain) - - - - - 1 LOVD
?/. 3 c.379G>T r.(?) p.(Ala127Ser) Unknown - VUS g.31360130C>A g.31067927C>A G379T - TRPM1_000151 - PubMed: Katagiri 2014 - rs140493891 Germline - - - - - DNA SEQ-NG - WES retinal disease RP#020 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
?/. - c.382G>T r.(?) p.(Ala128Ser) Unknown ACMG VUS g.31360127C>A g.31067924C>A TRPM1 c.382G>T, p.(Ala128Ser) - TRPM1_000217 different transcript, NM_002420.4(TRPM1):c.382G>T is NM_001252024.1(TRPM1):c.448G>T, p.(Ala150Ser); heterozygous, probably non-causal incidental finding PubMed: Zhu 2022 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG, SEQ saliva panel-based next generation sequencing retinal disease 33_39 PubMed: Zhu 2022 family 33, individual 39 F - - - - - - - 1 LOVD
?/. - c.394G>A r.(?) p.(Gly132Arg) Unknown - VUS g.31360115C>T g.31067912C>T NM_001252020.1:c.511G>A - TRPM1_000141 - PubMed: Tiwari 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease Case27419 PubMed: Tiwari 2016 see paper M - Switzerland - - - - - 1 LOVD
?/. 4 c.398C>A r.(?) p.(Ala133Asp) Paternal (inferred) - VUS g.31360111G>T g.31067908G>T - - TRPM1_000006 - - - - Germline - 2/234 - - - DNA SEQ - - CSNB1C - - - M yes India Indian - - - - 1 Soumittra Nagasamy
?/. 4 c.398C>A r.(?) p.(Ala133Asp) Maternal (inferred) - VUS g.31360111G>T g.31067908G>T - - TRPM1_000006 - - - - Germline - 2/234 - - - DNA SEQ - - CSNB1C - - - M yes India Indian - - - - 1 Soumittra Nagasamy
+?/. - c.398C>A r.(?) p.(Ala133Asp) Both (homozygous) - likely pathogenic g.31360111G>T g.31067908G>T - - TRPM1_000006 - PubMed: Malaichamy 2014 - - Germline - - - - - DNA SEQ - 5-gene panel retinal disease Pat5 PubMed: Malaichamy 2014 see paper - - India - - - - - 1 LOVD
+?/. - c.412delG r.(?) p.(Gly139Valfs*10) Parent #1 - likely pathogenic (recessive) g.31360097del g.31067894del TRPM1 c.412delG [p.G138fs] - TRPM1_000203 heterozygous PubMed: Li 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease - PubMed: Li 2009 Family 2 index case F - - - - - - - 1 LOVD
+/. 4 c.416G>T r.(?) p.(Gly139Val) Paternal (inferred) - pathogenic g.31360093C>A g.31067890C>A - - TRPM1_000005 - - - - Germline - 2/234 - - - DNA SEQ - - CSNB1C - - - M yes India Indian - - - - 1 Soumittra Nagasamy
+/. 4 c.416G>T r.(?) p.(Gly139Val) Maternal (inferred) - pathogenic g.31360093C>A g.31067890C>A - - TRPM1_000005 - - - - Germline - 2/234 - - - DNA SEQ - - CSNB1C - - - M yes India Indian - - - - 1 Soumittra Nagasamy
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