Full data view for gene GUCA1A

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000409.3 transcript reference sequence.

271 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
+?/. - c.-84322_*128532dup r.0? p.0? Unknown ACMG likely pathogenic g.42039467_42275673dup - - - C6orf132_000007 ACMG PM2, PVS1 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-436 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
-?/. - c.-458+2T>C r.spl? p.? Unknown - likely benign g.42123333T>C g.42155595T>C GUCA1A(NM_001319061.1):c.-829+2T>C - GUCA1A_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-457-8C>T r.(=) p.(=) Parent #1 - likely benign g.42130650C>T g.42162912C>T - - GUCA1A_000018 58 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs58894089 Germline - 58/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 58 Mohammed Faruq
-?/. - c.-457-8C>T r.(=) p.(=) Both (homozygous) - likely benign g.42130650C>T g.42162912C>T - - GUCA1A_000018 1 homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs58894089 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.9C>T r.(?) p.(Asn3=) Unknown - benign g.42141360C>T g.42173622C>T LOC118142757(NM_000409.5):c.9C>T (p.N3=) - GUCA1A_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.42C>T r.(?) p.(Ser14=) Unknown - likely benign g.42141393C>T g.42173655C>T GUCA1A(NM_001319061.1):c.42C>T (p.S14=) - GUCA1A_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.50_80del r.(?) p.(Glu17Valfs*22) Unknown ACMG VUS g.42141401_42141431del g.42173663_42173693del GUCA1A c.C50_80del p.E17VfsX22 - GUCA1A_000050 number of normal cases with GUCA1A variant: 3; heterozygous PubMed: Mizobuchi 2019 - - Unknown no - - - - DNA SEQ blood - retinal disease ? PubMed: Mizobuchi 2019 family IWATE003, JIKEI010 ? - Japan Japanese - - - - 1 LOVD
+?/. - c.55C>T r.(?) (p.H19Y) Unknown - likely pathogenic g.42141406C>T g.42173668C>T GUCA1A c.55C > T (p.H19Y) - GUCA1A_000060 heterozygous PubMed: Abbas 2020 - - Unknown ? - - - - DNA SEQ-NG - panel targeting 108 genes associated with inherited retinal degeneration retinal disease patient A PubMed: Abbas 2020 cell line experimets - - - - - - - - 1 LOVD
?/. - c.64T>C r.(?) p.(Tyr22His) Unknown - VUS g.42141415T>C g.42173677T>C GUCA1A(NM_001319061.1):c.64T>C (p.Y22H) - GUCA1A_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.124T>A r.(?) p.(Phe42Ile) Unknown - VUS g.42141475T>A g.42173737T>A GUCA1A(NM_001319061.1):c.124T>A (p.F42I) - GUCA1A_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.124T>A r.(?) p.(Phe42Ile) Unknown ACMG VUS g.42141475T>A g.42173737T>A GUCA1A c.124T>A p.F42I - GUCA1A_000016 number of normal cases with GUCA1A variant: 2; heterozygous PubMed: Mizobuchi 2019 - - Unknown no - - - - DNA SEQ blood - retinal disease ? PubMed: Mizobuchi 2019 family NTMC223, NAGOYA114 (segregation not done) ? - Japan Japanese - - - - 1 LOVD
?/. 3 c.149C>T r.(?) p.(Pro50Leu) Parent #1 - VUS g.42141500C>T g.42173762C>T - - GUCA1A_000001 - PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
-?/. - c.149C>T r.(?) p.(Pro50Leu) Unknown - likely benign g.42141500C>T g.42173762C>T GUCA1A(NM_000409.4):c.149C>T (p.P50L), GUCA1A(NM_001384910.1):c.149C>T (p.P50L), LOC118142757(NM_001319061.2):c.149C>T (p.P50L) - GUCA1A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.149C>T r.(?) p.(Pro50Leu) Parent #1 - likely pathogenic (dominant) g.42141500C>T g.42173762C>T - - GUCA1A_000001 - PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - rs104893968 Germline - - - - - DNA SEQ, SEQ-NG - 123 gene panel retinal disease CIC06352 PubMed: Boulanger-Scemama 2015, PubMed: Boulanger-Scemama 2019 - - - France - - - - - 1 Global Variome, with Curator vacancy
-?/. - c.149C>T r.(?) p.(Pro50Leu) Unknown - likely benign g.42141500C>T - GUCA1A(NM_000409.4):c.149C>T (p.P50L), GUCA1A(NM_001384910.1):c.149C>T (p.P50L), LOC118142757(NM_001319061.2):c.149C>T (p.P50L) - GUCA1A_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.149C>T r.(?) p.(Pro50Leu) Unknown - VUS g.42141500C>T g.42173762C>T - - GUCA1A_000001 - PubMed: Wang 2017 - rs104893968 Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD11–05 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
?/. - c.149C>T r.(?) p.(Pro50Leu) Unknown - VUS g.42141500C>T g.42173762C>T - - GUCA1A_000001 - PubMed: Wang 2017 - rs104893968 Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD1–12 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
+?/. - c.149C>T r.(?) p.(Pro50Leu) Unknown - likely pathogenic g.42141500C>T g.42173762C>T - - GUCA1A_000001 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 12002573 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+/. - c.149C>T r.(?) p.(Pro50Leu) Unknown ACMG pathogenic g.42141500C>T g.42173762C>T GUCA1A c.149C>T, p.(Pro50Leu) - GUCA1A_000001 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 140 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.149C>T r.(?) p.(Pro50Leu) Unknown ACMG pathogenic g.42141500C>T g.42173762C>T GUCA1A c.149C>T, p.(Pro50Leu), ABCA4 c.5882G>A(,), 3259G>A, p.(Gly1961Glu,Glu1087Lys) - GUCA1A_000001 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 141 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. 3 c.149C>T r.(?) p.(Pro50Leu) Unknown - likely pathogenic (dominant) g.42141500C>T g.42173762C>T GUCA1A P50L - GUCA1A_000001 heterozygous; said to be exon 1, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases PubMed: Downes 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease C II/3 PubMed: Downes 2001 Family C F - - - - - - - 1 LOVD
+?/. 3 c.149C>T r.(?) p.(Pro50Leu) Maternal (inferred) - likely pathogenic (dominant) g.42141500C>T g.42173762C>T GUCA1A P50L - GUCA1A_000001 heterozygous; said to be exon 1, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases PubMed: Downes 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease C III/2 PubMed: Downes 2001;PubMed: Mahroo 2019 Family C, proband; re-evaluated in PubMed: Mahroo 2019 due to his daughter's phenotype matching the X-linked dominant inheritance M - - - - - - - 1 LOVD
+?/. 3 c.149C>T r.(?) p.(Pro50Leu) Maternal (confirmed) - likely pathogenic (dominant) g.42141500C>T g.42173762C>T GUCA1A P50L - GUCA1A_000001 heterozygous; in Downes 2001 likely pathogenic, verified in Mahroo 2019 when this mutation was deemed likely benign due to RPGR mutation finding better matching the phenotype. In Downes et al. said to be exon 1, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases PubMed: Downes 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease C III/10 (IV/3) PubMed: Downes 2001;PubMed: Mahroo 2019 Family C F - - - - - - - 1 LOVD
?/. - c.152C>T r.(?) p.(Ser51Leu) Unknown - VUS g.42141503C>T - GUCA1A(NM_001319061.1):c.152C>T (p.S51L) - GUCA1A_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.166G>T r.(?) p.(Val56Leu) Unknown - likely benign g.42141517G>T g.42173779G>T LOC118142757(NM_000409.5):c.166G>T (p.V56L) - GUCA1A_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.193T>G r.(?) p.(Phe65Val) Unknown - likely pathogenic g.42141544T>G g.42173806T>G - - GUCA1A_000024 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 469 PubMed: Stone 2017 1 affected M - (United States) - - - - - 1 LOVD
-?/. - c.201+11G>T r.(=) p.(=) Unknown - likely benign g.42141563G>T - LOC118142757(NM_001319061.2):c.201+11G>T - GUCA1A_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.202-16C>T r.(=) p.(=) Unknown - likely benign g.42146002C>T g.42178264C>T GUCA1A(NM_001384910.1):c.202-16C>T, LOC118142757(NM_000409.5):c.202-16C>T - GUCA1A_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.204C>G r.(?) p.(Asp68Glu) Unknown ACMG VUS g.42146020C>G g.42178282C>G GUCA1A c.204C>G p.D68E - GUCA1A_000051 number of normal cases with GUCA1A variant: 1; heterozygous PubMed: Mizobuchi 2019 - - Unknown no - - - - DNA SEQ blood - retinal disease ? PubMed: Mizobuchi 2019 family NTMC262 ? - Japan Japanese - - - - 1 LOVD
?/. - c.212T>C r.(?) p.(Ile71Thr) Unknown - VUS g.42146028T>C g.42178290T>C - - GUCA1A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.216T>C r.(?) p.(Asp72=) Unknown - benign g.42146032T>C g.42178294T>C LOC118142757(NM_000409.5):c.216T>C (p.D72=) - GUCA1A_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.238C>A r.(?) p.(Leu80Ile) Unknown ACMG VUS g.42146054C>A g.42178316C>A GUCA1A c.238C>A p.L80I - GUCA1A_000052 number of normal cases with GUCA1A variant: 2; heterozygous PubMed: Mizobuchi 2019 - - Unknown no - - - - DNA SEQ blood - retinal disease ? PubMed: Mizobuchi 2019 family TEIKYO009 ? - Japan Japanese - - - - 1 LOVD
+?/. - c.250C>T r.(?) p.(Leu84Phe) Unknown - likely pathogenic (dominant) g.42146066C>T g.42178328C>T GUCA1A c.250C>T, p.L84F - GUCA1A_000043 heterozygous PubMed: Kamenarova_2013 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease I:1 PubMed: Kamenarova_2013 family 141, individual II:1 M - - - - - - - 1 LOVD
+?/. - c.250C>T r.(?) p.(Leu84Phe) Paternal (confirmed) - likely pathogenic (dominant) g.42146066C>T g.42178328C>T GUCA1A c.250C>T, p.L84F - GUCA1A_000043 heterozygous PubMed: Kamenarova_2013 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease II:1 PubMed: Kamenarova_2013 family 141, individual II:1 F - - - - - - - 1 LOVD
+?/. - c.250C>T r.(?) p.(Leu84Phe) Paternal (confirmed) - likely pathogenic (dominant) g.42146066C>T g.42178328C>T GUCA1A c.250C>T, p.L84F - GUCA1A_000043 heterozygous PubMed: Kamenarova_2013 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease II:3 PubMed: Kamenarova_2013 family 141, individual II:1 F - - - - - - - 1 LOVD
+?/. - c.250C>T r.(?) p.(Leu84Phe) Maternal (confirmed) - likely pathogenic (dominant) g.42146066C>T g.42178328C>T GUCA1A c.250C>T, p.L84F - GUCA1A_000043 heterozygous PubMed: Kamenarova_2013 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease III:1 PubMed: Kamenarova_2013 family 141, individual II:1 M - - - - - - - 1 LOVD
+?/. - c.250C>T r.(?) p.(Leu84Phe) Maternal (confirmed) - likely pathogenic (dominant) g.42146066C>T g.42178328C>T GUCA1A c.250C>T, p.L84F - GUCA1A_000043 heterozygous PubMed: Kamenarova_2013 - - Germline yes - - - - DNA arraySNP, SEQ blood - retinal disease III:4 PubMed: Kamenarova_2013 family 141, individual II:1 M - - - - - - - 1 LOVD
+?/. - c.250C>T r.(?) p.(Leu84Phe) Parent #1 ACMG likely pathogenic g.42146066C>T g.42178328C>T - - GUCA1A_000043 - PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - - Germline - - - - - DNA MIPsm - smMIPs 105 iMD/AMD genes retinal disease 070520 PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - F - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.250C>T r.(?) p.(Leu84Phe) Parent #1 ACMG likely pathogenic (dominant) g.42146066C>T g.42178328C>T - - GUCA1A_000043 ACMG PM2, PP2, PP5_STRONG PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? CD-626 PubMed: Weisschuh 2024 family, >3 affected F - Germany - - - - - 4 Johan den Dunnen
+?/. 4 c.250C>T r.(?) p.(Leu84Phe) Parent #1 ACMG likely pathogenic g.42146066C>T g.42178328C>T - - GUCA1A_000043 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 070514 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+?/. 4 c.250C>T r.(?) p.(Leu84Phe) Parent #1 ACMG likely pathogenic g.42146066C>T g.42178328C>T - - GUCA1A_000043 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 070515 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. - c.256G>C r.(?) p.(Gly86Arg) Maternal (inferred) - pathogenic (dominant) g.42146072G>C g.42178334G>C GUCA1A c.256G -> C, G86R - GUCA1A_000053 functional analyses: abnormally high affinity for the target enzyme and reduced Ca2+ sensitivity of GCAP1 predicted to abnormally elevate cGMP production and Ca2+ influx in photoreceptors in the dark; heterozygous PubMed: Peshenko 2019 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease III:2 PubMed: Peshenko 2019 family, proband M - - - - - - - 1 LOVD
+/. - c.256G>C r.(?) p.(Gly86Arg) Paternal (inferred) - pathogenic (dominant) g.42146072G>C g.42178334G>C GUCA1A c.256G -> C, G86R - GUCA1A_000053 functional analyses: abnormally high affinity for the target enzyme and reduced Ca2+ sensitivity of GCAP1 predicted to abnormally elevate cGMP production and Ca2+ influx in photoreceptors in the dark; heterozygous PubMed: Peshenko 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease III:3 PubMed: Peshenko 2019 family, proband's maternal cousin F - - - - - - - 1 LOVD
+/. - c.256G>C r.(?) p.(Gly86Arg) Maternal (confirmed) - pathogenic (dominant) g.42146072G>C g.42178334G>C GUCA1A c.256G -> C, G86R - GUCA1A_000053 functional analyses: abnormally high affinity for the target enzyme and reduced Ca2+ sensitivity of GCAP1 predicted to abnormally elevate cGMP production and Ca2+ influx in photoreceptors in the dark; heterozygous PubMed: Peshenko 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease IV:1 PubMed: Peshenko 2019 family, proband's maternal cousin's daughter F - - - - - - - 1 LOVD
+?/. - c.265G>A r.(?) p.(Glu89Lys) Unknown - likely pathogenic (dominant) g.42146081G>A g.42178343G>A GUCA1A c.265G>A, p.Glu89Lys - GUCA1A_000039 heterozygous PubMed: Kohl 2012 - - Unknown ? - - - - DNA SEQ blood - retinal disease ? PubMed: Kohl 2012 - ? - Germany - - - - - 1 LOVD
+?/. - c.265G>A r.(?) p.(Glu89Lys) Maternal (inferred) - likely pathogenic (dominant) g.42146081G>A g.42178343G>A GUCA1A c.265G>A (p.Glu89Lys) - GUCA1A_000039 heterozygous PubMed: Kitiratschky 2009 - - Germline yes - - - - DNA SEQ - - retinal disease 12121 PubMed: Kitiratschky 2009 family ZD182, individual 12121 M - - - - - - - 1 LOVD
+?/. - c.265G>A r.(?) p.(Glu89Lys) Unknown ACMG likely pathogenic (dominant) g.42146081G>A g.42178343G>A - - GUCA1A_000039 ACMG PM2, PM1, PP2, PP5 PubMed: Weisschuh 2024 986883 - Germline/De novo (untested) - - - - - DNA SEQ-NG - WGS ? MDS-401 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. - c.295T>A r.(?) p.(Tyr99Asn) Paternal (confirmed) ACMG pathogenic (dominant) g.42146111T>A g.42178373T>A GUCA1A c.295 T>A (p.Y99N) - GUCA1A_000054 heterozygous PubMed: Mizobuchi 2019 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease famNTMC 244patII:1 PubMed: Mizobuchi 2019 family NTMC 244, proband F - Japan Japanese - - - - 1 LOVD
+/. - c.295T>A r.(?) p.(Tyr99Asn) Unknown ACMG pathogenic (dominant) g.42146111T>A g.42178373T>A GUCA1A c.295 T>A (p.Y99N) - GUCA1A_000054 heterozygous PubMed: Mizobuchi 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease famNTMC 244patI:1 PubMed: Mizobuchi 2019 family NTMC 244, proband's father M - Japan Japanese - - - - 1 LOVD
+/. - c.295T>A r.(?) p.(Tyr99Asn) Paternal (confirmed) ACMG pathogenic (dominant) g.42146111T>A g.42178373T>A GUCA1A c.295 T>A (p.Y99N) - GUCA1A_000054 heterozygous PubMed: Mizobuchi 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease famNTMC 244patII:2 PubMed: Mizobuchi 2019 family NTMC 244, proband's brother M - Japan Japanese - - - - 1 LOVD
+/. - c.295T>A r.(?) p.(Tyr99Asn) Maternal (confirmed) ACMG pathogenic (dominant) g.42146111T>A g.42178373T>A GUCA1A c.295 T>A (p.Y99N) - GUCA1A_000054 heterozygous PubMed: Mizobuchi 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease famNTMC 244patIII:1 PubMed: Mizobuchi 2019 family NTMC 244, proband's son M - Japan Japanese - - - - 1 LOVD
+/. - c.296A>C r.(?) p.(Tyr99Ser) Maternal (confirmed) ACMG pathogenic (dominant) g.42146112A>C g.42178374A>C GUCA1A c.296 A> C (p.Y99S) - GUCA1A_000055 heterozygous PubMed: Mizobuchi 2019 - - Germline yes - - - - DNA SEQ-NG blood - retinal disease famJIKEI 136patI:2 PubMed: Mizobuchi 2019 family JIKEI 136, proband's mother M - Japan Japanese - - - - 1 LOVD
+/. - c.296A>C r.(?) p.(Tyr99Ser) Unknown ACMG pathogenic (dominant) g.42146112A>C g.42178374A>C GUCA1A c.296 A> C (p.Y99S) - GUCA1A_000055 heterozygous PubMed: Mizobuchi 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease famJIKEI 136patII:2 PubMed: Mizobuchi 2019 family JIKEI 136, proband F - Japan Japanese - - - - 1 LOVD
+/. - c.296A>G r.(?) p.(Tyr99Cys) Unknown - pathogenic (dominant) g.42146112A>G - 6:42146112A>G ENST00000394237.1:c.296A>G (Tyr99Cys) - GUCA1A_000019 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G005202 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+/. - c.296A>G r.(?) p.(Tyr99Cys) Unknown - pathogenic (dominant) g.42146112A>G - 6:42146112A>G ENST00000394237.1:c.296A>G (Tyr99Cys) - GUCA1A_000019 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007746 PubMed: Carss 2017 - M - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.296A>G r.(?) p.(Tyr99Cys) Parent #1 - likely pathogenic (dominant) g.42146112A>G g.42178374A>G - - GUCA1A_000019 - PubMed: Bryant 2018 - rs104893967 De novo - - - - - DNA SEQ-NG - WES retinal disease JB185 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+/. - c.296A>G r.(?) p.(Tyr99Cys) Parent #1 - pathogenic (dominant) g.42146112A>G g.42178374A>G - - GUCA1A_000019 - PubMed: Wang 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - 184-gene panel retinal disease RD13–01 PubMed: Wang 2017 - - - United States - - - - - 1 LOVD
+?/. - c.296A>G r.(?) p.(Tyr99Cys) Unknown - likely pathogenic g.42146112A>G g.42178374A>G GUCA1A c.296A>G, p.Tyr99Cys - GUCA1A_000019 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G005202 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.296A>G r.(?) p.(Tyr99Cys) Unknown - likely pathogenic g.42146112A>G g.42178374A>G GUCA1A c.296A>G, p.Tyr99Cys - GUCA1A_000019 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G007746 PubMed: Turro 2020 only individuals with mutations in retinal disease genes from this publication were inserted into LOVD ? - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Unknown - likely pathogenic (dominant) g.42146112A>G - c.296A>G - GUCA1A_000019 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - M - - - - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Unknown - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases PubMed: Downes 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease A I/1 PubMed: Downes 2001 Family A M - - - - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases PubMed: Downes 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease A II/1 PubMed: Downes 2001 Family A M - - - - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases PubMed: Downes 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease A II/9 PubMed: Downes 2001 Family A F - - - - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases PubMed: Downes 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease A II/11 PubMed: Downes 2001 Family A F - - - - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Maternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases PubMed: Downes 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease A III/2 PubMed: Downes 2001 Family A M - - - - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Maternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases PubMed: Downes 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease A III/4 PubMed: Downes 2001 Family A M - - - - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases PubMed: Downes 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease A IV/2 PubMed: Downes 2001 Family A F - - - - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (inferred) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 heterozygous; said to be exon 2, so different transcript (NM_001384910.1) was used in the publication; no nucleotide annotation, extrapolated from protein and databases PubMed: Downes 2001 - - Germline yes - - - - DNA SEQ blood - retinal disease B IV/1 PubMed: Downes 2001 Family B, mutation found also in 3 other family members, not sepcified F - - - - - - - 1 LOVD
+/. 4 c.296A>G r.(?) p.(Tyr99Cys) Maternal (inferred) - pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Michaelides 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease II:1 PubMed: Michaelides 2005 British family, proband's maternal uncle M - United Kingdom (Great Britain) British - - - - 1 LOVD
+/. 4 c.296A>G r.(?) p.(Tyr99Cys) Maternal (inferred) - pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Michaelides 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease II:5 PubMed: Michaelides 2005 British family, proband's mother F - United Kingdom (Great Britain) British - - - - 1 LOVD
+/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (confirmed) - pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Michaelides 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease III:1 PubMed: Michaelides 2005 British family, proband's maternal uncle's daughter F - United Kingdom (Great Britain) British - - - - 1 LOVD
+/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (confirmed) - pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Michaelides 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease III:4 PubMed: Michaelides 2005 British family, proband's maternal uncle's son M - United Kingdom (Great Britain) British - - - - 1 LOVD
+/. 4 c.296A>G r.(?) p.(Tyr99Cys) Maternal (confirmed) - pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Michaelides 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease III:5 PubMed: Michaelides 2005 British family, proband F - United Kingdom (Great Britain) British - - - - 1 LOVD
+/. 4 c.296A>G r.(?) p.(Tyr99Cys) Maternal (confirmed) - pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Michaelides 2005 - - Germline yes - - - - DNA SEQ blood - retinal disease III:9 PubMed: Michaelides 2005 British family, proband's brother M - United Kingdom (Great Britain) British - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Unknown - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Payne 1998 - - Germline yes - - - - DNA STR, HD, SEQ blood - retinal disease I:1 PubMed: Payne 1998 4-generation British family M - United Kingdom (Great Britain) British - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Payne 1998 - - Germline yes - - - - DNA STR, HD, SEQ blood - retinal disease II:1 PubMed: Payne 1998 4-generation British family M - United Kingdom (Great Britain) British - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Payne 1998 - - Germline yes - - - - DNA STR, HD, SEQ blood - retinal disease II:9 PubMed: Payne 1998 4-generation British family F - United Kingdom (Great Britain) British - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Payne 1998 - - Germline yes - - - - DNA STR, HD, SEQ blood - retinal disease II:11 PubMed: Payne 1998 4-generation British family F - United Kingdom (Great Britain) British - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Maternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Payne 1998 - - Germline yes - - - - DNA STR, HD, SEQ blood - retinal disease III:2 PubMed: Payne 1998 4-generation British family M - United Kingdom (Great Britain) British - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Maternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Payne 1998 - - Germline yes - - - - DNA STR, HD, SEQ blood - retinal disease III:4 PubMed: Payne 1998 4-generation British family M - United Kingdom (Great Britain) British - - - - 1 LOVD
+?/. 4 c.296A>G r.(?) p.(Tyr99Cys) Paternal (confirmed) - likely pathogenic (dominant) g.42146112A>G g.42178374A>G GUCA1A Y99C - GUCA1A_000019 no nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Payne 1998 - - Germline yes - - - - DNA STR, HD, SEQ blood - retinal disease IV:2 PubMed: Payne 1998 4-generation British family F - United Kingdom (Great Britain) British - - - - 1 LOVD
+/. - c.296A>G r.(?) p.(Tyr99Cys) Parent #1 ACMG pathogenic g.42146112A>G g.42178374A>G - - GUCA1A_000019 - PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - - Germline - - - - - DNA MIPsm - smMIPs 105 iMD/AMD genes retinal disease 070924 PubMed: Hitti-Malin 2022, Journal: Hitti-Malin 2022 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 4 c.296A>G r.(?) p.(Tyr99Cys) Parent #1 ACMG pathogenic g.42146112A>G g.42178374A>G - - GUCA1A_000019 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 070819 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
+/. 2 c.296A>G r.(?) p.(Tyr99Cys) Parent #1 ACMG pathogenic g.42146112A>G g.42178374A>G - - GUCA1A_000019 carries likely causative variants in more than one gene PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 079882 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+/. 2 c.296A>G r.(?) p.(Tyr99Cys) Parent #1 ACMG pathogenic g.42146112A>G g.42178374A>G - - GUCA1A_000019 carries likely causative variants in more than one gene PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 079883 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - F - - - - - - - 1 Rebekkah Hitti-Malin
+?/. - c.299A>G r.(?) p.(Asp100Gly) Unknown - likely pathogenic (dominant) g.42146115A>G g.42178377A>G GUCA1A c.299 A>G p.Asp100Gly (D100G) - GUCA1A_000044 heterozygous PubMed: Nong 2014 - - Germline yes - - - - DNA SEQ blood - retinal disease Patient 1 PubMed: Nong 2014 proband M - - - - - - - 1 LOVD
+?/. - c.299A>G r.(?) p.(Asp100Gly) Unknown - likely pathogenic (dominant) g.42146115A>G g.42178377A>G GUCA1A c.299 A>G p.Asp100Gly (D100G) - GUCA1A_000044 heterozygous PubMed: Nong 2014 - - Germline yes - - - - DNA SEQ blood - retinal disease Patient 2 PubMed: Nong 2014 proband's sister F - - - - - - - 1 LOVD
+?/. - c.299A>G r.(?) p.(Asp100Gly) Unknown - likely pathogenic (dominant) g.42146115A>G g.42178377A>G GUCA1A c.299 A>G p.Asp100Gly (D100G) - GUCA1A_000044 heterozygous PubMed: Nong 2014 - - Germline yes - - - - DNA SEQ blood - retinal disease Patient 3 PubMed: Nong 2014 proband's niece F - - - - - - - 1 LOVD
+?/. - c.300T>A r.(?) p.(Asp100Glu) Unknown - likely pathogenic (dominant) g.42146116T>A g.42178378T>A GUCA1A c.300T>A, Asp100Gln - GUCA1A_000040 error in annotation, should be p.(Asp100Glu); heterozygous PubMed: Kohl 2012 - - Germline yes - - - - DNA SEQ blood - retinal disease ? PubMed: Kohl 2012 - ? - Germany - - - - - 1 LOVD
+?/. - c.300T>A r.(?) p.(Asp100Glu) Maternal (inferred) - likely pathogenic (dominant) g.42146116T>A g.42178378T>A GUCA1A c.300T>A (p.Asp100Glu) - GUCA1A_000040 heterozygous PubMed: Kitiratschky 2009 - - Germline yes - - - - DNA SEQ - - retinal disease 15859 PubMed: Kitiratschky 2009 family ZD191, individual 15859 F - - - - - - - 1 LOVD
+?/. - c.302_304delTAG r.(?) p.(Val101del) Maternal (inferred) - likely pathogenic (dominant) g.42146118_42146120del g.42178380_42178382del GUCA1A c.302_304delTAG (p.Val101del) - GUCA1A_000045 heterozygous PubMed: Manes 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease III-2 PubMed: Manes 2019 Family MTP 434, individual III-2 F - France - - - - - 1 LOVD
+?/. - c.302_304delTAG r.(?) p.(Val101del) Maternal (confirmed) - likely pathogenic (dominant) g.42146118_42146120del g.42178380_42178382del GUCA1A c.302_304delTAG (p.Val101del) - GUCA1A_000045 heterozygous PubMed: Manes 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease IV-1 PubMed: Manes 2019 Family MTP 434, individual IV-1 F - France - - - - - 1 LOVD
+?/. - c.302_304delTAG r.(?) p.(Val101del) Maternal (confirmed) - likely pathogenic (dominant) g.42146118_42146120del g.42178380_42178382del GUCA1A c.302_304delTAG (p.Val101del) - GUCA1A_000045 heterozygous PubMed: Manes 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease IV-3 PubMed: Manes 2019 Family MTP 434, individual IV-3 M - France - - - - - 1 LOVD
+?/. - c.304G>C r.(?) p.(Asp102His) Parent #1 - likely pathogenic (dominant) g.42146120G>C g.42178382G>C - - GUCA1A_000028 - PubMed: Huang 2016 - - Germline - - - - - DNA SEQ-NG - WES retinal disease QT580 PubMed: Huang 2016 - - - China - - - - - 1 Johan den Dunnen
+?/. - c.306T>A r.(?) p.(Asp102Glu) Unknown - likely pathogenic g.42146122T>A g.42178384T>A - - GUCA1A_000025 - PubMed: Stone 2017 - - Germline - - - - - DNA SEQ-NG - - retinal disease 383 PubMed: Stone 2017 1 affected F - (United States) - - - - - 1 LOVD
+/. - c.312C>A r.(?) p.(Asn104Lys) Unknown - pathogenic (recessive) g.42146128C>A g.42178390C>A 819_826del8 - GUCA1A_000022 - PubMed: Wawrocka 2018 - - Germline - - - - - DNA SEQ - - retinal disease Fam18 PubMed: Wawrocka 2018 - - - Poland - - - - - 1 LOVD
+?/. 4 c.312C>A r.(?) p.(Asn104Lys) Maternal (inferred) - likely pathogenic (dominant) g.42146128C>A g.42178390C>A GUCA1A C312A, N104K - GUCA1A_000022 obsolete nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Jiang 2008 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease IV-3 PubMed: Jiang 2008 American family, proband M - United States - - - - - 1 LOVD
+?/. 4 c.312C>A r.(?) p.(Asn104Lys) Maternal (inferred) - likely pathogenic (dominant) g.42146128C>A g.42178390C>A GUCA1A C312A, N104K - GUCA1A_000022 obsolete nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Jiang 2008 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease IV-1 PubMed: Jiang 2008 American family, proband's brother M - United States - - - - - 1 LOVD
+?/. 4 c.312C>A r.(?) p.(Asn104Lys) Maternal (inferred) - likely pathogenic (dominant) g.42146128C>A g.42178390C>A GUCA1A C312A, N104K - GUCA1A_000022 obsolete nucleotide annotation, extrapolated from protein and databases; heterozygous PubMed: Jiang 2008 - - Germline yes - - - - DNA DHPLC, SEQ blood - retinal disease III-1 PubMed: Jiang 2008 American family, proband's father M - United States - - - - - 1 LOVD
+?/. - c.320T>C r.(?) p.(Ile107Thr) Paternal (inferred) - likely pathogenic (dominant) g.42146136T>C g.42178398T>C GUCA1A c.320T>C, p.I107T - GUCA1A_000046 heterozygous PubMed: Kamenarova_2013 - - Germline yes - - - - DNA SEQ blood - retinal disease III:2 PubMed: Kamenarova_2013 family 387, individual III:2 M - - - - - - - 1 LOVD
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