Full data view for gene GUCY2D

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000180.3 transcript reference sequence.

1111 entries on 12 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.-20del r.(?) p.(=) Unknown - likely benign g.7906042del g.8002724del - - GUCY2D_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-18del r.(?) p.(?) Both (homozygous) - likely pathogenic g.7906044del g.8002726del GUCY2D -18 5' UTR 1 bp del (G) - GUCY2D_000285 no alteration in cyclase activity, but expected to reduce RNA levels, which in this setup could not be replicated (strong promoter); obsolete nucleotide annotation, correct annotation extrapolated from databases; homozygous PubMed: Tucker 2004 - - In vitro (cloned) yes - - - - DNA ? - no alteration in cyclase activity, but expected to reduce RNA levels, which in this setup could not be replicated (strong promoter) retinal disease patient 3 PubMed: Tucker 2004 cell line research, original patient from biallelic segregating germline ? - - - - - - - 1 LOVD
-/. - c.-10+5A>G r.spl? p.? Unknown - benign g.7906057A>G g.8002739A>G - - GUCY2D_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.? r.(?) p.? Parent #1 - likely pathogenic g.? - Pro701Ser - MYH2_000008 - PubMed: Booij 2005 - - Germline - - - - - DNA DHPLC, PCR, SEQ blood - retinal disease - PubMed: Booij 2005 unknown variant 2nd chromosome; not in 60 controls - - - - - - - - 1 Julia Lopez
+?/. - c.? r.(?) p.? Parent #1 - likely pathogenic g.? - Pro1069ArgfsX37 - MYH2_000008 - PubMed: Booij 2005 - - Germline - - - - - DNA DHPLC, PCR, SEQ blood - retinal disease - PubMed: Booij 2005 unknown variant 2nd chromosome; not in 60 controls - - - - - - - - 1 Julia Lopez
+?/. - c.? r.(?) p.? Parent #1 - likely pathogenic g.? - Pro701Ser - MYH2_000008 - PubMed: Booij 2005 - - Germline - - - - - DNA DHPLC, PCR, SEQ blood - retinal disease - PubMed: Booij 2005 unknown variant 2nd chromosome; not in 60 controls - - - - - - - - 1 Julia Lopez
+?/. - c.? r.(?) p.? Parent #1 - likely pathogenic g.? - Arg768Trp - MYH2_000008 - PubMed: Booij 2005 - - Germline - - - - - DNA DHPLC, PCR, SEQ blood - retinal disease - PubMed: Booij 2005 unknown variant 2nd chromosome; not in 60 controls - - - - - - - - 1 Julia Lopez
-/. - c.? r.(?) p.? Parent #1 - benign g.? - 2011C>T - MYH2_000008 - PubMed: Booij 2005 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - retinal disease - PubMed: Booij 2005 - - - - - - - - - 1 Julia Lopez
-/. - c.? r.(?) p.? Parent #1 - benign g.? - 2419C>A - MYH2_000008 - PubMed: Yamanoshita 2005; PubMed: Booij 2005 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - retinal disease - PubMed: Yamanoshita 2005 - - - - - - - - - 1 Julia Lopez
-/. - c.? r.(?) p.? Parent #1 - benign g.? - 3528C>T - MYH2_000008 - PubMed: Yamanoshita 2005; PubMed: Booij 2005 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - retinal disease - PubMed: Yamanoshita 2005 - - - - - - - - - 1 Julia Lopez
-/. - c.? r.(?) p.? Parent #1 - benign g.? - 814C>T - MYH2_000008 - PubMed: Booij 2005 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - retinal disease - PubMed: Booij 2005 - - - - - - - - - 1 Julia Lopez
-/. - c.? r.(?) p.? Parent #1 - benign g.? - 227G>T - MYH2_000008 - Perrault 1996; PubMed: Booij 2005 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - retinal disease - Perrault 1996 - - - - - - - - - 1 Julia Lopez
-/. 2 c.? r.(?) p.? Unknown - benign g.7906613C>T - 248C?T - MYH2_000008 - PubMed: Li-2009 - - Germline - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Li-2009 - - - - Saudi Arabian - - - - 1 LOVD
+/. - c.? r.? p.? Parent #1 - pathogenic (dominant) g.? - Arg838Cys - MYH2_000008 - PubMed: Daiger 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RFS066 PubMed: Daiger 2014 - - - United States - - - - - 1 LOVD
?/. - c.? r.(?) p.(?) Both (homozygous) - VUS g.? g.? DelG hom 5UTR GUCY2D - MYH2_000008 homozygous PubMed: Dharmaraj 2000 - - Germline ? - - - - DNA SEQ - - retinal disease 1 PubMed: Dharmaraj 2000 - ? yes Canada Afghan - - - - 1 LOVD
?/. - c.? r.(?) p.(?) Unknown - VUS g.? g.? DelG het 5UTR GUCY2D - MYH2_000008 single heterozygous PubMed: Dharmaraj 2000 - - Unknown ? - - - - DNA SEQ - - retinal disease 2 PubMed: Dharmaraj 2000 - ? no Canada Egyptian - - - - 1 LOVD
+?/. 2 c.3G>A r.(?) p.(Met1?) Unknown - likely pathogenic g.7906368G>A g.8003050G>A GUCY2D G3A, M11 - GUCY2D_000308 obsolete annotation, actual nucleotide extrapolated from databases; heterozygous PubMed: Perrault 2000 - - Unknown ? - - - - DNA SEQ - - retinal disease 51 PubMed: Perrault 2000 mutation refering to the whole family, segregation not specified ? - France - - - - - 1 LOVD
+?/. 2 c.3G>C r.(?) p.(Met1?) Both (homozygous) - likely pathogenic g.7906368G>C g.8003050G>C GUCY2D G3C, M1I - GUCY2D_000307 obsolete annotation, actual nucleotide extrapolated from databases; homozygous PubMed: Perrault 2000 - - Unknown ? - - - - DNA SEQ - - retinal disease 11 PubMed: Perrault 2000 mutation refering to the whole family, segregation not specified ? - Benin - - - - - 1 LOVD
-?/. - c.49T>C r.(?) p.(Cys17Arg) Unknown - likely benign g.7906414T>C - GUCY2D(NM_000180.3):c.49T>C (p.C17R) - GUCY2D_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 2 c.52_99dup r.(?) p.(Gly18_Leu33dup) Both (homozygous) - likely pathogenic g.7906417_7906464dup g.8003099_8003146dup GUCY2D 52-99Dup48bp - GUCY2D_000309 obsolete annotation, actual nucleotide extrapolated from databases; homozygous PubMed: Perrault 2000 - - Unknown ? - - - - DNA SEQ - - retinal disease 85 PubMed: Perrault 2000 mutation refering to the whole family, segregation not specified ? - Tunisia - - - - - 1 LOVD
-/. 2 c.61T>C r.(?) p.(Trp21Arg) Parent #1 - benign g.7906426T>C g.8003108T>C - - GUCY2D_000007 predicted benign PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
-/. - c.61T>C r.(?) p.(Trp21Arg) Unknown - benign g.7906426T>C g.8003108T>C GUCY2D(NM_000180.3):c.61T>C (p.W21R) - GUCY2D_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.74C>T r.(?) p.(Ser25Phe) Unknown - VUS g.7906439C>T g.8003121C>T GUCY2D(NM_000180.3):c.74C>T (p.S25F), GUCY2D(NM_000180.4):c.74C>T (p.S25F) - GUCY2D_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.74C>T r.(?) p.(Ser25Phe) Unknown - likely benign g.7906439C>T g.8003121C>T GUCY2D(NM_000180.3):c.74C>T (p.S25F), GUCY2D(NM_000180.4):c.74C>T (p.S25F) - GUCY2D_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.74C>T r.(?) p.(Ser25Phe) Parent #1 - VUS g.7906439C>T - - - GUCY2D_000025 - PubMed: Wang 2014 - - Germline - - - - - DNA SEQ-NG, PCR, SEQ - - retinal disease CaseV PubMed: Wang 2014 - ? ? United States - - - - - 1 Muhammad Ajmal
?/. - c.74C>T r.(?) p.(Ser25Phe) Unknown ACMG VUS g.7906439C>T g.8003121C>T GUCY2D c.2513G>A, p.(Arg838His), c.74C>T, p.(Ser25Phe) - GUCY2D_000025 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 144 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
?/. - c.74C>T r.(?) p.(Ser25Phe) Unknown ACMG VUS g.7906439C>T g.8003121C>T GUCY2D c.2513G>A, p.(Arg838His), c.74C>T, p.(Ser25Phe) - GUCY2D_000025 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 413 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
?/. - c.74C>T r.(?) p.(Ser25Phe) Unknown - VUS g.7906439C>T - GUCY2D(NM_000180.3):c.74C>T (p.S25F), GUCY2D(NM_000180.4):c.74C>T (p.S25F) - GUCY2D_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.82dup r.(?) p.(Arg28ProfsTer291) Parent #1 - pathogenic g.7906447dup g.8003129dup 82_83insC - GUCY2D_000175 - PubMed: Wang 2015 - - Germline - - - - - DNA SEQ-NG - 163-gene panel retinal disease 1686901 PubMed: Wang 2015 index case - - China - - - - - 1 LOVD
+?/. - c.91dup r.(?) p.(Arg31Profs*288) Maternal (confirmed) - likely pathogenic (recessive) g.7906456dup g.8003138dup - - GUCY2D_000140 - PubMed: Thompson 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam2019 PubMed: Thompson 2017 - - - Australia - - - - - 1 LOVD
-/. - c.111G>A r.(?) p.(Pro37=) Unknown - benign g.7906476G>A g.8003158G>A GUCY2D(NM_000180.4):c.111G>A (p.P37=) - GUCY2D_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.121C>T r.(?) p.(Leu41Phe) Unknown - likely benign g.7906486C>T g.8003168C>T GUCY2D(NM_000180.4):c.121C>T (p.L41F) - GUCY2D_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.121C>T r.(?) p.(Leu41Phe) Unknown - likely benign g.7906486C>T - c.121C>T (p.Leu41Phe) - GUCY2D_000026 - PubMed: Vallespin 2007 - - Germline - - - - - DNA arraySEQ - - retinal disease - PubMed: Vallespin 2007 - - - Spain Spanish - - - - 1 LOVD
+?/. 2 c.121C>T r.(?) p.(Leu41Phe) Unknown - likely pathogenic g.7906486C>T g.8003168C>T GUCY2D C121T, L41F - GUCY2D_000026 obsolete annotation, actual nucleotide extrapolated from databases; single heterozygous variant, no second allele found PubMed: Perrault 2000 - - Unknown ? - - - - DNA SEQ - - retinal disease 89 PubMed: Perrault 2000 mutation refering to the whole family, segregation not specified ? - Tunisia - - - - - 1 LOVD
?/. - c.129_134del r.(?) p.(Leu44_Leu45del) Unknown - VUS g.7906494_7906499del g.8003176_8003181del GUCY2D(NM_000180.3):c.129_134delTCTGCT (p.(Leu44_Leu45del)), GUCY2D(NM_000180.3):c.129_134delTCTGCT (p.L44_L45del), GUCY2D(NM_000180.4):c.129_134de... - GUCY2D_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.129_134del r.(?) p.(Leu44_Leu45del) Unknown - VUS g.7906494_7906499del g.8003176_8003181del GUCY2D(NM_000180.3):c.129_134delTCTGCT (p.(Leu44_Leu45del)), GUCY2D(NM_000180.3):c.129_134delTCTGCT (p.L44_L45del), GUCY2D(NM_000180.4):c.129_134de... - GUCY2D_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.129_134del r.(?) p.(Leu44_Leu45del) Unknown - VUS g.7906494_7906499del g.8003176_8003181del - - GUCY2D_000027 no genotypes reported PubMed: Sergouniotis 2016 - rs552184470 Germline - 2/486 individuals - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Sergouniotis 2016 analysis 486 cases - - United Kingdom (Great Britain) - - - - - 2 LOVD
+/. - c.129_134del r.(?) p.(Leu44_Leu45del) Unknown - pathogenic g.7906494_7906499del g.8003176_8003181del c.124_129del, p.(Leu44_Leu45del) - GUCY2D_000027 heterozygous PubMed: Wang 2019 - - Germline ? - - - - DNA SEQ-NG blood panel of 126 genes retinal disease 14309 PubMed: Wang 2019 - M - China - - - - - 1 LOVD
+?/. 2 c.129_134del r.(?) p.(Leu44_Leu45del) Unknown - likely pathogenic g.7906494_7906499del - c.129_134del - GUCY2D_000027 - PubMed: Maggi_2021 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Maggi_2021 - F - Switzerland - - - - - 1 LOVD
+?/. - c.129_134del r.(?) p.(Leu44_Leu45del) Parent #2 - likely pathogenic g.7906494_7906499del g.8003176_8003181del GUCY2D Leu42del6bp - GUCY2D_000027 no nucleotide written, extrapolated from protein and databases; most probably deleted nucleotide was meant to be c.129_134del - 3' rule shifts it from Leu 42 to Leu44; heterozygous PubMed: Jacobson 2012 - - Germline yes - - - - DNA ? - - retinal disease 6 PubMed: Jacobson 2012 - F - United States Scandinavian/European - - - - 1 LOVD
?/. - c.129_134del r.(?) p.(Leu44_Leu45del) Unknown - VUS g.7906494_7906499del - GUCY2D(NM_000180.3):c.129_134delTCTGCT (p.(Leu44_Leu45del)), GUCY2D(NM_000180.3):c.129_134delTCTGCT (p.L44_L45del), GUCY2D(NM_000180.4):c.129_134de... - GUCY2D_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2 c.134T>C r.(?) p.(Leu45Pro) Parent #1 - benign g.7906499T>C - 134T>C - GUCY2D_000152 - PubMed: Loyer 1998; PubMed: Booij 2005 - - Germline - - - - - DNA DHPLC, PCR, SEQ - - retinal disease - PubMed: Loyer 1998 - - - - - - - - - 1 Julia Lopez
+?/. - c.139delC r.(?) p.(Ala49Profs*36) Maternal (confirmed) - likely pathogenic g.7906509del g.8003191del GUCY2D c.139delC (p.Ala49Profs*36) - GUCY2D_000275 heterozygous PubMed: Feng 2020 - - Germline yes - - - - DNA SEQ-NG blood whole-exome sequencing retinal disease III:1 PubMed: Feng 2020 family 1, III:1 (proband's older sister) F - - - - - - - 1 LOVD
+?/. - c.139delC r.(?) p.(Ala49Profs*36) Maternal (confirmed) - likely pathogenic g.7906509del g.8003191del GUCY2D c.139delC (p.Ala49Profs*36) - GUCY2D_000275 heterozygous PubMed: Feng 2020 - - Germline yes - - - - DNA SEQ blood - retinal disease III:2 PubMed: Feng 2020 family 1, III:2 (proband) F - - - - - - - 1 LOVD
-?/. - c.142C>T r.(?) p.(Pro48Ser) Unknown - likely benign g.7906507C>T g.8003189C>T GUCY2D(NM_000180.3):c.142C>T (p.P48S) - GUCY2D_000112 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 2 c.154G>T r.(?) p.(Ala52Ser) Parent #1 - likely benign g.7906519G>T g.8003201G>T - - GUCY2D_000001 predicted unknown effect on function, present at significant fraction in Exome Variant Server PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
-?/. 2 c.154G>T r.(?) p.(Ala52Ser) Parent #2 - likely benign g.7906519G>T g.8003201G>T - - GUCY2D_000001 predicted unknown effect on function, present at significant fraction in Exome Variant Server PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
?/. 2 c.154G>T r.(?) p.(Ala52Ser) Parent #1 - VUS g.7906519G>T g.8003201G>T - - GUCY2D_000001 predicted unknown effect on function, present at significant fraction in Exome Variant Server PubMed: Neveling 2012 - - Germline yes - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
?/. 2 c.154G>T r.(?) p.(Ala52Ser) Parent #2 - VUS g.7906519G>T g.8003201G>T - - GUCY2D_000001 predicted unknown effect on function, present at significant fraction in Exome Variant Server PubMed: Neveling 2012 - - Germline yes - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
?/. 2 c.154G>T r.(?) p.(Ala52Ser) Parent #1 - VUS g.7906519G>T g.8003201G>T - - GUCY2D_000001 disease-related variants in other gene; not segregating with disease in other family PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - M - - - - - - - 1 Kornelia Neveling
?/. 2 c.154G>T r.(?) p.(Ala52Ser) Parent #1 - VUS g.7906519G>T g.8003201G>T - - GUCY2D_000001 - PubMed: Neveling 2012 - - Germline no - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
?/. 2 c.154G>T r.(?) p.(Ala52Ser) Parent #1 - VUS g.7906519G>T g.8003201G>T - - GUCY2D_000001 not segregating with disease in other family PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
?/. 2 c.154G>T r.(?) p.(Ala52Ser) Parent #1 - VUS g.7906519G>T g.8003201G>T - - GUCY2D_000001 not segregating with disease in other family PubMed: Neveling 2012 - - Germline - - - - - DNA SEQ, SEQ-NG-S - - retinal disease - - - F - - - - - - - 1 Kornelia Neveling
-/. - c.154G>T r.(?) p.(Ala52Ser) Unknown - benign g.7906519G>T g.8003201G>T GUCY2D(NM_000180.3):c.154G>T (p.A52S), GUCY2D(NM_000180.4):c.154G>T (p.A52S) - GUCY2D_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.154G>T r.(?) p.(Ala52Ser) Unknown - benign g.7906519G>T g.8003201G>T GUCY2D(NM_000180.3):c.154G>T (p.A52S), GUCY2D(NM_000180.4):c.154G>T (p.A52S) - GUCY2D_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.154G>T r.(?) p.(Ala52Ser) Unknown - benign g.7906519G>T g.8003201G>T GUCY2D(NM_000180.3):c.154G>T (p.A52S), GUCY2D(NM_000180.4):c.154G>T (p.A52S) - GUCY2D_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.154G>T r.(?) p.(Ala52Ser) Unknown - benign g.7906519G>T g.8003201G>T GUCY2D(NM_000180.3):c.154G>T (p.A52S), GUCY2D(NM_000180.4):c.154G>T (p.A52S) - GUCY2D_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 1 c.159del r.(?) p.(Phe54Serfs*31) Maternal (confirmed) - likely pathogenic g.7906524del g.8003206del - - GUCY2D_000018 - - - - Germline yes - - - - DNA SEQ-NG-I - - LCA - - - M no India India, south - - - - 1 Soumittra Nagasamy
+?/. - c.160T>A r.(?) p.(Phe54Ile) Unknown - likely pathogenic g.7906525T>A g.8003207T>A - - GUCY2D_000153 - PubMed: Bravo-Gil 2017 - - Germline - - - - - DNA SEQ-NG - 68-gene panel retinal disease Pat39 PubMed: Bravo-Gil 2017 patient - - Spain - - - - - 1 Nereida Bravo Gil
?/. 2 c.162C>G r.(?) p.(Phe54Leu) Unknown - VUS g.7906527C>G - c.162C>G:p.F54L - GUCY2D_000272 - PubMed: Numa-2020 - - Unknown - - - - - DNA SEQ, SEQ-NG - - retinal disease - PubMed: Numa 2020 - M - Japan Japanese - - - - 1 LOVD
-?/. - c.164C>T r.(?) p.(Thr55Met) Unknown - likely benign g.7906529C>T g.8003211C>T GUCY2D(NM_000180.3):c.164C>T (p.T55M), GUCY2D(NM_000180.4):c.164C>T (p.T55M) - GUCY2D_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.164C>T r.(?) p.(Thr55Met) Unknown - benign g.7906529C>T g.8003211C>T GUCY2D(NM_000180.3):c.164C>T (p.T55M), GUCY2D(NM_000180.4):c.164C>T (p.T55M) - GUCY2D_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.164C>T r.(?) p.(Thr55Met) Parent #1 - VUS g.7906529C>T g.8003211C>T - - GUCY2D_000028 4 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs201414567 Germline - 4/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 4 Mohammed Faruq
-?/. - c.164C>T r.(?) p.(Thr55Met) Unknown - likely benign g.7906529C>T g.8003211C>T - - GUCY2D_000028 classification based on frequency in 305 unrelated individuals PubMed: Le 2019 - - Germline - frequency 0.015 - - - DNA SEQ, SEQ-NG - 105 WGS/200 WES Healthy/Control - PubMed: Le 2019 analysis 305 unrelated individuals - - Viet Nam - - - - - 1 Global Variome, with Curator vacancy
+/. 2 c.164C>T r.(?) p.(Thr55Met) Both (homozygous) - pathogenic g.7906529C>T - 164C>T - GUCY2D_000028 - PubMed: li 2011 - - Germline - 4/87 cases; 0/96 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: li 2011 - M yes China Chinese - - - - 1 LOVD
+/. 2 c.164C>T r.(?) p.(Thr55Met) Both (homozygous) - pathogenic g.7906529C>T - 164C>T - GUCY2D_000028 - PubMed: li 2011 - - Germline - 4/87 cases; 0/96 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: li 2011 - M yes China Chinese - - - - 1 LOVD
+/. 2 c.164C>T r.(?) p.(Thr55Met) Unknown - pathogenic g.7906529C>T - 164C>T - GUCY2D_000028 - PubMed: li 2011 - - Germline - 4/87 cases; 0/96 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: li 2011 - M no China Chinese - - - - 1 LOVD
-/. 2 c.164C>T r.(?) p.(Thr55Met) Unknown - benign g.7906529C>T - 164C>T - GUCY2D_000028 - PubMed: li 2011 - - Germline - 4/87 cases; 0/96 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: li 2011 - M no China Chinese - - - - 1 LOVD
-/. 2 c.164C>T r.(?) p.(Thr55Met) Unknown - benign g.7906529C>T - 164C>T - GUCY2D_000028 - PubMed: li 2011 - - Germline - 4/87 cases; 0/96 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: li 2011 - M no China Chinese - - - - 1 LOVD
-?/. 2 c.164C>T r.(?) p.(Thr55Met) Unknown - likely benign g.7906529C>T - c.164C>T - GUCY2D_000028 - PubMed: Chen-2013 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: Chen-2013 - M - China Chinese - - - - 1 LOVD
-?/. 2 c.164C>T r.(?) p.(Thr55Met) Unknown - likely benign g.7906529C>T - c.164C>T - GUCY2D_000028 - PubMed: Chen-2013 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: Chen-2013 - - - China Chinese - - - - 1 LOVD
-?/. 2 c.164C>T r.(?) p.(Thr55Met) Unknown - likely benign g.7906529C>T - c.164C>T - GUCY2D_000028 - PubMed: Chen-2013 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: Chen-2013 - - - China Chinese - - - - 1 LOVD
+?/. 2 c.164C>T r.(?) p.(Thr55Met) Unknown - likely pathogenic (recessive) g.7906529C>T - c.164C>T - GUCY2D_000028 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - hereditary eye disease enrichment panel (HEDEP) retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
+?/. - c.167_168del r.(?) p.(Val56Glyfs*262) Unknown - likely pathogenic g.7906532_7906533del g.8003214_8003215del GUCY2D c.167_168delTG, p.Val56GlyfsTer262; c.738G>C, p.Met246Ile - GUCY2D_000276 heterozygous PubMed: Liu 2020 - - Unknown ? - - - - DNA SEQ-NG blood whole-exome sequencing retinal disease 1-II:2 (Patient 1) PubMed: Liu 2020 family 1 (MU01), 1-II:2 (Patient 1) F - Japan Asian - - - - 1 LOVD
+/. - c.174delC r.(?) p.(Leu59Trpfs*26) Both (homozygous) ACMG pathogenic g.7906540del g.8003222del GUCY2D NM_000180: g.628delC, c.174delC, p.L59Wfs*26 - GUCY2D_000246 - PubMed: Xu 2020 - - Germline yes - - - - DNA SEQ-NG - targeted next-generation sequencing retinal disease 67180 PubMed: Xu 2020 - ? yes China - - - - - 1 LOVD
+?/. - c.186G>A r.(?) p.(Trp62Ter) Maternal (confirmed) - likely pathogenic g.7906551G>A g.8003233G>A GUCY2D p.W62X (c.186G>A) - GUCY2D_000286 heterozygous PubMed: Preising 2007 - - De novo ? - - - - DNA SSCA, SEQ blood - retinal disease 1212_1 PubMed: Preising 2007 family 1212, individual 1 ? - - - - - - - 1 LOVD
+?/. 2 c.226_239del r.(?) p.(Ala76Argfs*238) Both (homozygous) - likely pathogenic g.7906591_7906604del g.8003273_8003286del GUCY2D 226-239Del14bp - GUCY2D_000310 obsolete annotation, actual nucleotide extrapolated from databases; homozygous PubMed: Perrault 2000 - - Unknown ? - - - - DNA SEQ - - retinal disease 110 PubMed: Perrault 2000 mutation refering to the whole family, segregation not specified ? - - - - - - - 1 LOVD
+/. - c.238_252del r.(?) p.(Ala80_Leu84del) Parent #1 - pathogenic (recessive) g.7906603_7906617del g.8003285_8003299del 17:7906590GGCCGCCCGCCTGGCC>G ENST00000254854.4:c.238_252delGCCGCCGCCCGCCTG (Ala80_Leu84del) - GUCY2D_000129 - PubMed: Carss 2017, PubMed: Turro 2020 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G004991 PubMed: Carss 2017, PubMed: Turro 2020 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.238_252del r.(?) p.(Ala80_Leu84del) Maternal (confirmed) - likely pathogenic g.7906603_7906617del g.8003285_8003299del GUCY2D c.238_252del, p.Ala80_Leu84del; c.2620G>A, p.Glu874Lys - GUCY2D_000129 heterozygous PubMed: Liu 2020 - - Germline yes - - - - DNA SEQ-NG blood whole-exome sequencing retinal disease 2-II:2 (Patient 2) PubMed: Liu 2020 family 2 (TMC01), 2-II:2 (Patient 2) M - Japan Asian - - - - 1 LOVD
+/. 2 c.244_250dup r.(?) p.(Leu84Argfs*237) Unknown ACMG pathogenic g.7906609_7906615dup g.8003291_8003297dup NM_000180.3:c.244_250dup, NP_000171.1:p.(Leu84ArgfsTer237), NC_000017.10:g.7906609_7906615dup - GUCY2D_000214 - PubMed: Wang 2018 - - Germline ? - - - - DNA SEQ-NG - exome sequencing retinal disease 2016061403 PubMed: Wang 2018 - M ? China Han Chinese - - - - 1 LOVD
+?/. 2 c.244_250dup r.(?) p.(Leu84Argfs*237) Unknown - likely pathogenic (recessive) g.7906609_7906615dup - c.244_250dupGCCCGCC - GUCY2D_000214 - PubMed: Liu-2020 - - Germline - - - - - DNA SEQ-NG - WES retinal disease - PubMed: Liu-2020 - F - - - - - - - 1 LOVD
-?/. - c.271G>C r.(?) p.(Ala91Pro) Unknown - likely benign g.7906636G>C g.8003318G>C GUCY2D(NM_000180.3):c.271G>C (p.A91P) - GUCY2D_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.307G>A r.(?) p.(Glu103Lys) Parent #2 - pathogenic (recessive) g.7906672G>A g.8003354G>A 17:7906672G>A ENST00000254854.4:c.307G>A (Glu103Lys) - GUCY2D_000130 - PubMed: Carss 2017, PubMed: Turro 2020 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G004991 PubMed: Carss 2017, PubMed: Turro 2020 - F - United Kingdom (Great Britain) Europe - - - - 1 LOVD
+?/. - c.307G>A r.(?) p.(Glu103Lys) Maternal (confirmed) - likely pathogenic (recessive) g.7906672G>A g.8003354G>A - - GUCY2D_000130 - PubMed: Thompson 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam535 PubMed: Thompson 2017 - - - Australia - - - - - 1 LOVD
+?/. - c.307G>A r.(?) p.(Glu103Lys) Paternal (confirmed) - likely pathogenic (recessive) g.7906672G>A g.8003354G>A - - GUCY2D_000130 - PubMed: Thompson 2017 - - Germline - - - - - DNA SEQ - - retinal disease Fam2019 PubMed: Thompson 2017 - - - Australia - - - - - 1 LOVD
+/. 2 c.308A>T r.(?) p.(Glu103Val) Unknown - pathogenic g.7906673A>T - 308A>T - GUCY2D_000204 - PubMed: li 2011 - - Germline - 2/87 cases; 0/96 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: li 2011 - F no China Chinese - - - - 1 LOVD
+/. 2 c.308A>T r.(?) p.(Glu103Val) Unknown - pathogenic g.7906673A>T - 308A>T - GUCY2D_000204 - PubMed: li 2011 - - Germline - 2/87 cases; 0/96 controls - - - DNA PCR, SEQ blood - retinal disease - PubMed: li 2011 - F no China Chinese - - - - 1 LOVD
+?/. 2 c.312_313dup r.(?) p.(Cys105Phefs*25) Parent #1 - likely pathogenic (recessive) g.7906677_7906678dup g.8003359_8003360dup c.312_313dupTT, p.Cys105Phefs*25 - GUCY2D_000255 Heterozygous PubMed: Cho 2020 - - Unknown ? - - - - DNA SEQ-NG blood after negative whole exome sequencing whole genome sequencing retinal disease 25 PubMed: Cho 2020 - F - (United States) - - - - - 1 LOVD
+?/. - c.314G>A r.(?) p.(Cys105Tyr) Parent #1 - likely pathogenic g.7906679G>A g.8003361G>A GUCY2D C105Y - GUCY2D_000287 protein: reduced RetGC-1 acivity by 50%; no nucleotide annotation, extrapolated from protein; heterozygous PubMed: Tucker 2004 reduced RetGC-1 acivity by only 50% - In vitro (cloned) yes - - - - DNA ? - reduced RetGC-1 acivity by 50% retinal disease patient 2 PubMed: Tucker 2004 cell line research, original patient from biallelic segregating germline ? - - - - - - - 1 LOVD
+?/. - c.314G>A r.(?) p.(Cys105Tyr) Parent #1 - likely pathogenic g.7906679G>A g.8003361G>A C105T Comp het GUCY2D - GUCY2D_000287 error in table - threonine; correct tyrosine in text; compound heterozygous PubMed: Dharmaraj 2000 - - Germline ? - - - - DNA SEQ - - retinal disease 3 PubMed: Dharmaraj 2000 - ? no Canada Egyptian - - - - 1 LOVD
-/. - c.369C>T r.(?) p.(Gly123=) Unknown - benign g.7906734C>T g.8003416C>T GUCY2D(NM_000180.3):c.369C>T (p.G123=), GUCY2D(NM_000180.4):c.369C>T (p.G123=) - GUCY2D_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.369C>T r.(?) p.(Gly123=) Unknown - likely benign g.7906734C>T g.8003416C>T GUCY2D(NM_000180.3):c.369C>T (p.G123=), GUCY2D(NM_000180.4):c.369C>T (p.G123=) - GUCY2D_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.370A>T r.(?) p.(Arg124Trp) Unknown - pathogenic g.43013853A>T g.44936485A>T - - GUCY2D_000067 - Sharon, submitted - - Germline - - - - - DNA SEQ - - retinal disease - Sharon, submitted - M yes Israel Jewish-Ashkenazi - - - - 2 Dror Sharon
?/. - c.380C>G r.(?) p.(Pro127Arg) Unknown ACMG VUS g.7906745C>G g.8003427C>G - - GUCY2D_000337 ACMG PM2, PM5, PP2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? STGD-441 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - 1 Johan den Dunnen
+/. 2 c.380C>T r.(?) p.(Pro127Leu) Both (homozygous) - pathogenic (dominant) g.7906745C>T g.8003427C>T - - GUCY2D_000135 - PubMed: Birtel 2018 - - Germline - - - - - DNA SEQ-NG - - retinal disease Pat168 PubMed: Birtel 2018 patient M - Germany - - - - - 1 LOVD
?/. - c.380C>T r.(?) p.(Pro127Leu) Unknown - VUS g.7906745C>T g.8003427C>T - - GUCY2D_000135 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13005797 PubMed: Ellingford 2016 patient - - - - - - - - 1 LOVD
+?/. 2 c.387C>A r.(?) p.(Asn129Lys) Unknown - likely pathogenic g.7906752C>A g.8003434C>A GUCY2D C387A, N129K - GUCY2D_000311 obsolete annotation, actual nucleotide extrapolated from databases; heterozygous PubMed: Perrault 2000 - - Unknown ? - - - - DNA SEQ - - retinal disease 82 PubMed: Perrault 2000 mutation refering to the whole family, segregation not specified ? - Italy - - - - - 1 LOVD
+?/. - c.387delC r.(?) p.(Pro130Leufs*36) Unknown - likely pathogenic g.7906754del g.8003436del GUCY2D c.387delC - GUCY2D_000066 - PubMed: Mavrogiannis 2009 - - Germline yes - - - - DNA SEQ blood - retinal disease 1_1 PubMed: Hanei 2008 family 1, individual 1 ? - - - - - - - 1 LOVD
+?/. - c.387delC r.(?) p.(Pro130Leufs*36) Unknown - likely pathogenic g.7906754del g.8003436del GUCY2D c.387delC - GUCY2D_000066 - PubMed: Hanei 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 1_2 PubMed: Hanei 2008 family 1, individual 2 ? - - - - - - - 1 LOVD
+?/. - c.387delC r.(?) p.(Pro130Leufs*36) Unknown - likely pathogenic g.7906754del g.8003436del GUCY2D c.387delC - GUCY2D_000066 - PubMed: Hanei 2008 - - Germline yes - - - - DNA SEQ blood - retinal disease 2_1 PubMed: Hanei 2008 family 2, individual 1 ? - - - - - - - 1 LOVD
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