Full data view for gene GUCA1B

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_002098.5 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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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.-113115_*113086dup 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.-17= r.(=) p.(=) Unknown - benign g.42162575A>G g.42194837A>G GUCA1B(NM_002098.6):c.-17T>C - GUCA1B_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.15T>G r.(?) p.(Phe5Leu) Unknown - VUS g.42162544A>C g.42194806A>C - - GUCA1B_000015 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs202229506 Germline - 6/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 6 Yoshito Koyanagi
?/. - c.29C>T r.(?) p.(Ala10Val) Unknown - VUS g.42162530G>A g.42194792G>A - - GUCA1B_000014 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs555181489 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
?/. - c.65A>G r.(?) p.(Gln22Arg) Unknown - VUS g.42162494T>C g.42194756T>C - - GUCA1B_000013 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs377415238 Germline - 3/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 3 Yoshito Koyanagi
+?/. - c.65A>G r.(?) p.(Gln22Arg) Unknown - likely pathogenic g.42162494T>C g.42194756T>C c.65A>G, p.Gln22Arg - GUCA1B_000013 heterozygous PubMed: Gao 2019 - - Germline ? - - - - DNA SEQ-NG - - retinal disease RD18184091_B PubMed: Gao 2019 - ? - China - - - - - 1 LOVD
-?/. - c.87G>A r.(?) p.(Val29=) Unknown - likely benign g.42162472C>T g.42194734C>T GUCA1B(NM_002098.6):c.87G>A (p.V29=) - GUCA1B_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.119A>G r.(?) p.(His40Arg) Unknown - VUS g.42162440T>C g.42194702T>C - - GUCA1B_000022 - PubMed: Fernandez-San Jose 2015 - - Germline - - - - - DNA SEQ-NG - 73-gene panel retinal disease RP0992 PubMed: Fernandez-San Jose 2015 family, 2 affected - - Spain - - - - - 2 LOVD
?/. - c.130C>T r.(?) p.(Arg44Cys) Unknown ACMG VUS g.42162429G>A g.42194691G>A GUCA1B c.[130C>T];[130=], V1: c.130C>T, (p.Arg44Cys) - GUCA1B_000026 heterozygous PubMed: Chen 2021 - - Unknown ? - - - - DNA SEQ-NG blood 212 inherited retinal disease-related genes retinal disease F229 PubMed: Chen 2021 - ? - Taiwan - - - - - 1 LOVD
?/. - c.130C>T r.(?) p.(Arg44Cys) Parent #1 - VUS g.42162429G>A g.42194691G>A GUCA1B c.[130C>T];[130=]; p.(Arg44Cys) - GUCA1B_000026 heterozygous PubMed: Chen 2021 - - Germline yes Taiwan Biobank: 0.001318; GnomAD_exome_East: 0.00152; GnomAD_All: 0.000115 - - - DNA SEQ-NG - targeted 212 IRD-related genes retinal disease F229 PubMed: Chen 2021 - - - Taiwan - - - - - 1 LOVD
+/. - c.131G>A r.(?) p.(Arg44His) Unknown - pathogenic (dominant) g.42162428C>T g.42194690C>T - - GUCA1B_000021 - PubMed: Fernandez-San Jose 2015 - - Germline - - - - - DNA SEQ-NG - 73-gene panel retinal disease RP1728 PubMed: Fernandez-San Jose 2015 family, 2 affected - - Spain - - - - - 2 LOVD
+?/. 1 c.131G>A r.(?) p.(Arg44His) Unknown - likely pathogenic g.42162428C>T g.42194690C>T - - GUCA1B_000021 - PubMed: Martin-Merida 2018 - - Germline ? 1/258 - - - DNA ? - various screening techniques within publication, not mentioned which particular individual had which techniques: SSCA, DGGE, arraySNP, SEQ-NG, WES retinal disease ? PubMed: Martin-Merida 2018 - - - Spain - - - - - 1 LOVD
+?/. - c.153_155del r.(?) p.(Asp51del) Unknown - likely pathogenic g.42162406_42162408del g.42194668_42194670del GUCA1B c.153_155del, p.D51del - GUCA1B_000025 heterozygous PubMed: Jauregui 2020 - - Unknown ? - - - - DNA SEQ-NG blood targeted sequencing retinal disease 1 PubMed: Jauregui 2020 - M - (United States) white - - - - 1 LOVD
-/. - c.171T>C r.(?) p.(Tyr57=) Unknown - benign g.42162388A>G g.42194650A>G GUCA1B(NM_002098.6):c.171T>C (p.Y57=) - GUCA1B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.171T>C r.(?) p.(Tyr57=) Unknown - benign g.42162388A>G g.42194650A>G GUCA1B(NM_002098.6):c.171T>C (p.Y57=) - GUCA1B_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.183G>A r.(?) p.(Met61Ile) Unknown - likely benign g.42162376C>T g.42194638C>T GUCA1B(NM_002098.5):c.183G>A (p.M61I) - GUCA1B_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.187C>T r.(?) p.(Arg63Ter) Unknown - VUS g.42162372G>A g.42194634G>A GUCA1B(NM_002098.6):c.187C>T (p.(Arg63Ter)) - GUCA1B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.187C>T r.(?) p.(Arg63Ter) Unknown - VUS g.42162372G>A - GUCA1B(NM_002098.6):c.187C>T (p.(Arg63Ter)) - GUCA1B_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.253G>A r.(?) p.(Val85Met) Unknown - benign g.42156424C>T g.42188686C>T GUCA1B(NM_002098.6):c.253G>A (p.V85M) - GUCA1B_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.253G>A r.(?) p.(Val85Met) Parent #1 - VUS g.42156424C>T g.42188686C>T - - GUCA1B_000006 ExAC MAF too high for dominant disease allele PubMed: Arno 2017 - - Germline - - - - - DNA SEQ, SEQ-NG - WGS retinal disease FamGC18203Pat1 PubMed: Arno 2017 3-generation family, 1 affeted, unaffected heterozygous carrier parents F - - - - - - - 1 Johan den Dunnen
+?/. 2 c.253G>A r.(?) p.(Val85Met) Unknown - likely pathogenic g.42156424C>T - c.253G>A - GUCA1B_000006 - PubMed: Song-2011 - - Unknown - - - - - DNA arraySEQ, PCR blood - retinal disease - PubMed: Song-2011 - F - - - - - - - 1 LOVD
-?/. - c.318T>C r.(?) p.(Asn106=) Unknown - likely benign g.42156359A>G - GUCA1B(NM_002098.6):c.318T>C (p.N106=) - GUCA1B_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.331C>T r.(?) p.(Arg111Cys) Unknown ACMG VUS g.42156346G>A g.42188608G>A - - GUCA1B_000028 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? UD-118 PubMed: Weisschuh 2024 patient, no family history M - Germany - - - - - 1 Johan den Dunnen
+/. - c.361A>G r.(?) p.(Ile121Val) Unknown - pathogenic (dominant) g.42153532T>C g.42185794T>C - - GUCA1B_000020 - PubMed: Xu 2014 - - Germline/De novo (untested) - - - - - DNA SEQ-NG - gene panel retinal disease RP289 PubMed: Xu 2014 patient F - China - - - - - 1 LOVD
-?/. - c.386G>A r.(?) p.(Arg129Gln) Unknown - likely benign g.42153507C>T g.42185769C>T GUCA1B(NM_002098.6):c.386G>A (p.R129Q) - GUCA1B_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.389G>A r.(?) p.(Arg130Gln) Unknown - VUS g.42153504C>T g.42185766C>T - - GUCA1B_000012 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs564752140 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-/. - c.399A>G r.(?) p.(Gln133=) Unknown - benign g.42153494T>C g.42185756T>C GUCA1B(NM_002098.6):c.399A>G (p.Q133=) - GUCA1B_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.407A>G r.(?) p.(Gln136Arg) Unknown - likely benign g.42153486T>C - GUCA1B(NM_002098.5):c.407A>G (p.(Gln136Arg)) - GUCA1B_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 3 c.465G>T r.(?) p.(Glu155Asp) Parent #1 - benign g.42153428C>A g.42185690C>A - - GUCA1B_000001 predicted benign; not segregating with disease in other family PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
-/. 3 c.465G>T r.(?) p.(Glu155Asp) Parent #1 - benign g.42153428C>A g.42185690C>A - - GUCA1B_000001 predicted benign; not segregating with disease in other family PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
-/. 3 c.465G>T r.(?) p.(Glu155Asp) Parent #1 - benign g.42153428C>A g.42185690C>A - - GUCA1B_000001 predicted benign PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
?/. - c.465G>T r.(?) p.(Glu155Asp) Unknown - VUS g.42153428C>A g.42185690C>A 465C>A - GUCA1B_000001 - PubMed: Duvvari 2016 - rs139923590 Germline - - - - - DNA SEQ, SEQ-NG - WES retinal disease Pat9AB PubMed: Duvvari 2016 patient - - Netherlands white - - - - 1 LOVD
?/. - c.465G>T r.(?) p.(Glu155Asp) Unknown - VUS g.42153428C>A g.42185690C>A - - GUCA1B_000001 - PubMed: Wang 2014 - rs139923590 Germline - - - - - DNA SEQ-NG - 66-gene panel retinal disease 15 PubMed: Wang 2014 - M - United States - - - - - 1 LOVD
?/. - c.469G>A r.(?) p.(Gly157Arg) Unknown - VUS g.42153424C>T g.42185686C>T - - GUCA1B_000011 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs121909124 Germline - 23/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 23 Yoshito Koyanagi
?/. - c.469G>A r.(?) p.(Gly157Arg) Both (homozygous) - VUS g.42153424C>T g.42185686C>T - - GUCA1B_000011 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs121909124 Germline - 1/1204 cases with retinitis pigmentosa - - - DNA SEQ-NG - - retinal disease - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 analysis 1204 retinitis pigmentosa cases - - Japan - - - - - 1 Yoshito Koyanagi
-/. 3i c.475+8G>A r.(spl?) p.(?) Parent #2 - benign g.42153410C>T g.42185672C>T - - GUCA1B_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
-/. 3i c.475+8G>A r.(spl?) p.(?) Parent #1 - benign g.42153410C>T g.42185672C>T - - GUCA1B_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
-/. 3i c.475+8G>A r.(spl?) p.(?) Parent #1 - benign g.42153410C>T g.42185672C>T - - GUCA1B_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - PubMed: Neveling 2012 - F no - - - - - - 1 Kornelia Neveling
-/. 3i c.475+8G>A r.(spl?) p.(?) Parent #1 - benign g.42153410C>T g.42185672C>T - - GUCA1B_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
-/. 3i c.475+8G>A r.(spl?) p.(?) Parent #1 - benign g.42153410C>T g.42185672C>T - - GUCA1B_000002 predicted benign; not segregating with disease in other families PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
-/. 3i c.476-9C>G r.(spl?) p.(?) Parent #1 - benign g.42152689G>C g.42184951G>C - - GUCA1B_000003 predicted benign PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
+?/. - c.514C>T r.(?) p.(Arg172Trp) Parent #1 - likely pathogenic (dominant) g.42152642G>A g.42184904G>A - - GUCA1B_000019 - PubMed: Zhou 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease 680602 PubMed: Zhou 2018 - - - China - - - - - 1 LOVD
+?/. 4 c.514C>T r.(?) p.(Arg172Trp) Unknown - likely pathogenic g.42152642G>A - c.514C>T - GUCA1B_000019 - PubMed: Zhou-2011 - - Unknown - - - - - DNA SEQ blood WES retinal disease - PubMed: Zhou 2011 - - - China - - - - - 1 LOVD
?/. - c.560G>A r.(?) p.(Ser187Asn) Unknown ACMG VUS g.42152596C>T g.42184858C>T - - GUCA1B_000027 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-110 PubMed: Weisschuh 2024 family, 2 affected M - Germany - - - - - 2 Johan den Dunnen
-?/. - c.570C>T r.(?) p.(Leu190=) Unknown - likely benign g.42152586G>A g.42184848G>A GUCA1B(NM_002098.5):c.570C>T (p.L190=) - GUCA1B_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.584G>A r.(?) p.(Arg195Gln) Unknown ACMG VUS g.42152572C>T g.42184834C>T GUCA1B:NM_002098 c.G584A, p.R195Q - GUCA1B_000024 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-304 PubMed: Rodriguez-Munoz 2020 family fRPN-144, proband F - Spain - - - - - 1 LOVD
-/. - c.*5402G>T r.(=) p.(=) Unknown - benign g.42147151C>A g.42179413C>A LOC118142757(NM_000409.5):c.*10C>A - GUCA1A_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*5451G>A r.(=) p.(=) Unknown - likely benign g.42147102C>T g.42179364C>T GUCA1A(NM_000409.4):c.567C>T (p.D189=) - GUCA1A_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*5492G>A r.(=) p.(=) Unknown - likely pathogenic g.42147061C>T g.42179323C>T LOC118142757(NM_000409.5):c.526C>T (p.L176F) - GUCA1A_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5553C>A r.(=) p.(=) Unknown - VUS g.42147000G>T - - - GUCA1A_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*5590G>T r.(=) p.(=) Unknown - benign g.42146963C>A g.42179225C>A LOC118142757(NM_001319061.2):c.446-18C>A - GUCA1A_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5934T>G r.(=) p.(=) Unknown - VUS g.42146619A>C - LOC118142757(NM_001319061.2):c.431A>C (p.D144A) - GUCA1A_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*5994G>A r.(=) p.(=) Unknown - VUS g.42146559C>T - GUCA1A(NM_001384910.1):c.371C>T (p.P124L) - GUCA1A_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*6375G>A r.(=) p.(=) Unknown - likely benign g.42146178C>T - LOC118142757(NM_001319061.2):c.351+11C>T - GUCA1A_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*6406C>T r.(=) p.(=) Unknown - pathogenic g.42146147G>A g.42178409G>A LOC118142757(NM_000409.5):c.331G>A (p.E111K) - GUCA1A_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*6521A>G r.(=) p.(=) 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.*6525A>G r.(=) p.(=) Unknown - VUS g.42146028T>C g.42178290T>C - - GUCA1A_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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