Full data view for gene GNAT2

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_005272.3 transcript reference sequence.

117 entries on 2 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.(303+365)_(461+974)del r.(?) p.(Ala101fs*12) Paternal (confirmed) - pathogenic g.110150435_110152453del g.109607813_109609831del GNAT2 c.(303+365)_(461+974)del, p.(Ala101fs*12) - GNAT2_000046 heterozygous PubMed: Felden 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO752-II:1 PubMed: Felden 2019 - F - - French - - - - 1 LOVD
+/. - c.(303+365)_(461+974)dup r.(?) p.? Maternal (confirmed) - pathogenic g.110150435_110152453dup g.109607813_109609831dup GNAT2 c.(303+365)_(461+974)dup, p.? - GNAT2_000047 heterozygous PubMed: Felden 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO946-II:1 PubMed: Felden 2019 - M - - French - - - - 1 LOVD
-/. 1 c.-31A>G r.(=) p.(=) Parent #1 - benign g.110155523T>C - - - GNAT2_000022 - PubMed: Nishiguchi 2005 - - Germline - A/G=0.82/0.18 (based on 87 patients) - - - DNA SEQ - - retinal disease - PubMed: Nishiguchi 2005 - - - - - - - - - 1 Julia Lopez
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? g.? GNAT2 del_Exon4 - NPHS2_000000 no nucleotide annotation, extrapolated from protein and databases; probably c.303+365_461+974del; homozygous PubMed: Kellner 2004 - - Germline yes - - - - DNA ? - - retinal disease F109_386 PubMed: Kellner 2004 - M - - - - - - - 1 LOVD
+?/. - c.? r.(?) p.? Both (homozygous) - likely pathogenic g.? g.? GNAT2 del_Exon4 - NPHS2_000000 no nucleotide annotation, extrapolated from protein and databases; homozygous PubMed: Kellner 2004 - - Germline yes - - - - DNA ? - - retinal disease F109_11 PubMed: Kellner 2004 - M - - - - - - - 1 LOVD
+?/. - c.107T>G r.(?) p.(Leu36Arg) Parent #1 - likely pathogenic g.110155386A>C g.109612764A>C GNAT2 c.107T>G, p.(Leu36Arg) - GNAT2_000054 heterozygous PubMed: Felden 2019 - - Unknown ? - - - - DNA SEQ blood - retinal disease CHRO555-II:1 PubMed: Felden 2019 - M - - Spanish - - - - 1 LOVD
-?/. - c.118+6_118+9del r.(=) p.(=) Unknown - likely benign g.110155371_110155374del g.109612749_109612752del GNAT2(NM_005272.3):c.118+6_118+9delTGAG - GNAT2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.124G>C r.(?) p.(Gly42Arg) Parent #2 - likely pathogenic g.110153124C>G g.109610502C>G GNAT2 c.[619G>A];[124G>C] - GNAT2_000037 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 8296 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+?/. - c.139A>G r.(?) p.(Ser47Gly) Both (homozygous) - likely pathogenic g.110153109T>C g.109610487T>C GNAT2 c.139A>G, p.(Ser47Gly) - GNAT2_000053 homozygous PubMed: Felden 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO798-II:1 PubMed: Felden 2019 - M - - Pakistani - - - - 1 LOVD
-?/. - c.145A>G r.(?) p.(Ile49Val) Unknown - likely benign g.110153103T>C g.109610481T>C GNAT2(NM_005272.5):c.145A>G (p.I49V) - GNAT2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.147C>T r.(?) p.(Ile49=) Unknown - benign g.110153101G>A g.109610479G>A GNAT2(NM_001377295.2):c.147C>T (p.(Ile49=)), GNAT2(NM_005272.3):c.147C>T (p.I49=), GNAT2(NM_005272.5):c.147C>T (p.I49=) - GNAT2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.147C>T r.(?) p.(Ile49=) Unknown - likely benign g.110153101G>A g.109610479G>A GNAT2(NM_001377295.2):c.147C>T (p.(Ile49=)), GNAT2(NM_005272.3):c.147C>T (p.I49=), GNAT2(NM_005272.5):c.147C>T (p.I49=) - GNAT2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.147C>T r.(?) p.(Ile49=) Unknown - likely benign g.110153101G>A - GNAT2(NM_001377295.2):c.147C>T (p.(Ile49=)), GNAT2(NM_005272.3):c.147C>T (p.I49=), GNAT2(NM_005272.5):c.147C>T (p.I49=) - GNAT2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.161+67T>C r.(=) p.(=) Parent #1 - benign g.110153020A>G - - - GNAT2_000021 - PubMed: Nishiguchi 2005 - - Germline - T/C=0.98/0.02 (based on 87 patients) - - - DNA SEQ - - retinal disease - PubMed: Nishiguchi 2005 - - - - - - - - - 1 Julia Lopez
-?/. 3 c.208_210del r.(?) p.(Lys70del) Unknown - likely benign g.110152755_110152757del g.109610133_109610135del GNAT2 deletion of basepairs AAG at positions 9066-9068, K270del - GNAT2_000052 obsolete nucleotide annotation, extrapolated from protein, sequence and databases; heterozygous PubMed: Pina 2004 - - Germline no - - - - DNA SEQ blood - retinal disease I:1 PubMed: Pina 2004 French-Canadian family, proband; mutation also carried by unaffected family members: father, brother and son - no segregation - - - French-Canadian - - - - 1 LOVD
+?/. 3 c.235C>T r.(?) p.(Gln79Ter) Both (homozygous) - likely pathogenic g.110152730G>A g.109610108G>A GNAT2 c.235C>T, p.Q79X - GNAT2_000051 homozygous PubMed: Kohl 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO68_II:2 PubMed: Kohl 2002 ancestry same geographic region in southern Italy F likely Italy Southern Italian - - - - 1 LOVD
-?/. - c.257G>A r.(?) p.(Arg86Gln) Unknown - likely benign g.110152708C>T g.109610086C>T GNAT2(NM_005272.5):c.257G>A (p.R86Q) - GNAT2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.272T>C r.(?) p.(Leu91Pro) Unknown - VUS g.110152693A>G g.109610071A>G GNAT2(NM_005272.3):c.272T>C (p.L91P) - GNAT2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.279C>T r.(?) p.(Ile93=) Unknown - likely benign g.110152686G>A g.109610064G>A GNAT2(NM_005272.3):c.279C>T (p.I93=) - GNAT2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 3 c.285_291delinsCTGTAT r.(?) p.(Ala96CysfsTer61) Both (homozygous) ACMG likely pathogenic g.110152674_110152680delinsATACAG g.109610052_109610058delinsATACAG - - GNAT2_000050 ACMG PVS1, PM2_sup PubMed: Kohl 2002, PubMed: Rosenberg 2004, PubMed: Andersen 2023 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO87_III4;?;Fam101Pat79 PubMed: Kohl 2002, PubMed: Rosenberg 2004, PubMed: Andersen 2023 family, 2 affected M likely Denmark - - - - - 2 LOVD
+?/. - c.285_291delinsCTGTAT r.(?) p.(Ala96Cysfs*61) Maternal (confirmed) ACMG likely pathogenic (recessive) g.110152674_110152680delinsATACAG g.109610052_109610058delinsATACAG - - GNAT2_000050 ACMG PVS1, PM2_sup PubMed: Rosenberg 2004,PubMed: Andersen 2023 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO87III2;Fam101Pat83 PubMed: Rosenberg 2004, PubMed: Andersen 2023 proband's paternal cousin (Pat79) M - Denmark - - - - - 1 LOVD
+?/. 4 c.303+365_461+974del r.spl p.? Both (homozygous) - likely pathogenic g.110150435_110152453del g.109607813_109609831del GNAT2 IVS3+365_IVS4+974del, Exon 4 deleted - GNAT2_000046 obsolete annotation; homozygous PubMed: Kohl 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO22_II:1 PubMed: Kohl 2002 - M yes Turkey Turkish - - - - 1 LOVD
+?/. 4 c.303+365_461+974del r.spl p.? Both (homozygous) - likely pathogenic g.110150435_110152453del g.109607813_109609831del GNAT2 IVS3+365_IVS4+974del, Exon 4 deleted - GNAT2_000046 obsolete annotation; homozygous PubMed: Kohl 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO22_II:2 PubMed: Kohl 2002 - M yes Turkey Turkish - - - - 1 LOVD
+/. - c.313C>T r.(?) p.(Arg105*) Both (homozygous) - pathogenic g.110151401G>A g.109608779G>A GNAT2 c.313C>T, p.(Arg105*) - GNAT2_000049 homozygous PubMed: Felden 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO589-II:1 PubMed: Felden 2019 - M - - Belgian - - - - 1 LOVD
-/. 4 c.319C>A r.(?) p.(Leu107Ile) Parent #1 - benign g.110151395G>T - p.L107I - GNAT2_000020 - PubMed: Nishiguchi 2005 - - Germline - C/A=0.98/0.03 (based on 87 patients) - - - DNA SEQ - - retinal disease - PubMed: Nishiguchi 2005 - - - - - - - - - 1 Julia Lopez
?/. - c.349G>A r.(?) p.(Gly117Arg) Unknown - VUS g.110151365C>T g.109608743C>T GNAT2(NM_005272.3):c.349G>A (p.G117R) - GNAT2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.370G>A r.(?) p.(Val124Met) Both (homozygous) - likely benign g.110151344C>T - p.V124M - GNAT2_000019 - PubMed: Nishiguchi 2005 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Nishiguchi 2005 - - - - - - - - - 1 Julia Lopez
-?/. 4 c.370G>A r.(?) p.(Val124Met) Parent #1 - likely benign g.110151344C>T - p.V124M - GNAT2_000019 - PubMed: Nishiguchi 2005 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Nishiguchi 2005 - - - - - - - - - 1 Julia Lopez
?/. - c.370G>A r.(?) p.(Val124Met) Unknown ACMG VUS g.110151344C>T g.109608722C>T GNAT2:NM_005272 c.G370A, p.V124M - GNAT2_000019 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-311 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
?/. - c.370G>A r.(?) p.(Val124Met) Unknown ACMG VUS g.110151344C>T g.109608722C>T GNAT2:NM_005272 c.G370A, p.V124M - GNAT2_000019 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-315 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
?/. - c.370G>A r.(?) p.(Val124Met) Unknown ACMG VUS g.110151344C>T g.109608722C>T GNAT2:NM_005272 c.G370A, p.V124M - GNAT2_000019 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-319 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
+?/. - c.370G>A r.(?) p.(Val124Met) Unknown - likely pathogenic g.110151344C>T - - - GNAT2_000019 - PubMed: Langlo 2014 - - Germline - - - - - DNA SEQ - - retinal disease CEI-001 PubMed: Langlo 2014 - M - United States - - - - - 1 Johan den Dunnen
-/. - c.396G>A r.(?) p.(Lys132=) Unknown - benign g.110151318C>T g.109608696C>T GNAT2(NM_005272.5):c.396G>A (p.K132=) - GNAT2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.461+24G>A r.spl p.? Paternal (confirmed) ACMG pathogenic (recessive) g.110151229C>T g.109608607C>T - - GNAT2_000048 ACMG PS3, PM2_sup, PM3; expression in COS7 cells showed splicing defect that results in early translation termination, leaky, giving rise to small amounts of correctly spliced transcripts; heterozygous PubMed: Rosenberg 2004, PubMed: Andersen 2023 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO87III2;Fam101Pat83 PubMed: Rosenberg 2004, PubMed: Andersen 2023 proband's paternal cousin (Pat79) M - Denmark - - - - - 1 LOVD
-?/. 4i c.462-43G>A r.(=) p.(=) Parent #1 - likely benign (!) g.110149101C>T - - - GNAT2_000018 Isocoding PubMed: Nishiguchi 2005 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Nishiguchi 2005 - - - - - - - - - 1 Julia Lopez
+/. - c.481C>T r.(?) p.(Arg161Ter) Unknown - pathogenic g.110149039G>A g.109606417G>A - - GNAT2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.481C>T r.(?) p.(Arg161*) Parent #2 ACMG likely pathogenic (recessive) g.110149039G>A - - - GNAT2_000009 - PubMed: Kim 2019 - - Germline - 1/86 cases - - - DNA SEQ, SEQ-NG - 204 gene panel retinal disease - PubMed: Kim 2019 - - - Korea - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.481C>T r.(?) p.(Arg161*) Both (homozygous) - likely pathogenic g.110149039G>A g.109606417G>A Allele 1 c.481C>T (p.Arg161*), Allele 2 c.481C>T (p.Arg161*) - GNAT2_000009 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - - - DNA ? - retrospective study retinal disease - PubMed: Khan 2019 - F - - - - - - - 1 LOVD
+?/. - c.481C>T r.(?) p.(Arg161Ter) Unknown ACMG likely pathogenic g.110149039G>A g.109606417G>A GNAT2 c.481C>T, p.R161X - GNAT2_000009 - PubMed: Kim 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 204 genes associated with inherited retinal disorders, see paper retinal disease ? PubMed: Kim 2019 - ? - Korea, South (Republic) - - - - - 1 LOVD
+/. - c.481C>T r.(?) p.(Arg161*) Both (homozygous) - pathogenic g.110149039G>A g.109606417G>A GNAT2 c.481C>T, p.(Arg161*) - GNAT2_000009 homozygous PubMed: Felden 2019 - - Germline ? - - - - DNA SEQ blood - retinal disease CHRO330-II:1 PubMed: Felden 2019 - M - - Turkish - - - - 1 LOVD
+/. - c.481C>T r.(?) p.(Arg161*) Both (homozygous) ACMG pathogenic (recessive) g.110149039G>A g.109606417G>A GNAT2 c.481C>T, p.(Arg161*) - GNAT2_000009 ACMG PVS1, PS4_mod, PM2_sup PubMed: Felden 2019, PubMed: Andersen 2023 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO73-II:1;Fam202Pat57 PubMed: Felden 2019, PubMed: Andersen 2023 family, 2 affected F - Denmark - - - - - 2 LOVD
+/. - c.481C>T r.(?) p.(Arg161*) Both (homozygous) ACMG pathogenic (recessive) g.110149039G>A g.109606417G>A GNAT2 c.481C>T, p.(Arg161*) - GNAT2_000009 ACMG PVS1, PS4_mod, PM2_sup PubMed: Felden 2019, PubMed: Andersen 2023 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO73-II:2;Fam202Pat82 PubMed: Felden 2019,PubMed: Andersen 2023 sib M - Denmark - - - - - 1 LOVD
+/. - c.481C>T r.(?) p.(Arg161*) Maternal (confirmed) - pathogenic g.110149039G>A g.109606417G>A GNAT2 c.481C>T, p.(Arg161*) - GNAT2_000009 heterozygous PubMed: Felden 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO752-II:1 PubMed: Felden 2019 - F - - French - - - - 1 LOVD
+?/. 5 c.503dup r.(?) p.(Ser170Ter) Parent #1 - likely pathogenic g.110149017dup g.109606395dup GNAT2 c.503_504insT, p.L168fsX3 - GNAT2_000045 c.503_504insT automapped to NM_005272.3:c.503dupT, p.(Ser170Ter); heterozygous PubMed: Kohl 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO53_II:1 PubMed: Kohl 2002 - M - Italy Italian - - - - 1 LOVD
+?/. 5 c.503dup r.(?) p.(Ser170Ter) Parent #1 - likely pathogenic g.110149017dup g.109606395dup GNAT2 c.503_504insT, p.L168fsX3 - GNAT2_000045 c.503_504insT automapped to NM_005272.3:c.503dupT, p.(Ser170Ter); heterozygous PubMed: Kohl 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO53_II:2 PubMed: Kohl 2002 - M - Italy Italian - - - - 1 LOVD
?/. - c.545C>T r.(?) p.(Thr182Met) Unknown - VUS g.110148975G>A - GNAT2(NM_005272.3):c.545C>T (p.T182M) - GNAT2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.546G>A r.(?) p.(Thr182=) Unknown - benign g.110148974C>T g.109606352C>T GNAT2(NM_005272.5):c.546G>A (p.T182=) - GNAT2_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 5 c.546G>A r.(=) p.(=) Parent #1 - benign g.110148974C>T - p.T182T - GNAT2_000002 - PubMed: Nishiguchi 2005 - - Germline - G/A=0.63/0.37 (based on 87 patients) - - - DNA SEQ - - retinal disease - PubMed: Nishiguchi 2005 - - - - - - - - - 1 Julia Lopez
-?/. - c.570C>T r.(?) p.(Ser190=) Unknown - likely benign g.110148950G>A - GNAT2(NM_005272.3):c.570C>T (p.S190=) - GNAT2_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.591-2A>C r.spl p.(?) Parent #1 - likely pathogenic g.110148723T>G g.109606101T>G GNAT2, variant 1: c.591-2A>C/p.?, variant 2: c.591-2A>C/p.? - GNAT2_000035 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET2 targeted sequencing panel - see paper retinal disease 1161 PubMed: Weisschuh 2020 Filing key number: 824, achromatopsia, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
+/. - c.591-2A>C r.spl p.? Both (homozygous) - pathogenic g.110148723T>G g.109606101T>G GNAT2 c.591-2A>C, p.? - GNAT2_000035 homozygous PubMed: Felden 2019 - - Unknown ? - - - - DNA SEQ blood - retinal disease CHRO824-II:1 PubMed: Felden 2019 - M - - German - - - - 1 LOVD
?/. - c.593T>A r.(?) p.(Met198Lys) Both (homozygous) - VUS g.110148719A>T g.109606097A>T GNAT2 c.593T>A, p.(Met198Lys) - GNAT2_000044 homozygous PubMed: Felden 2019 - - Unknown ? - - - - DNA SEQ blood - retinal disease CHRO684-II:1 PubMed: Felden 2019 - F - - Spanish - - - - 1 LOVD
+?/. - c.605G>A r.(?) p.(Gly202Glu) Both (homozygous) - likely pathogenic (recessive) g.110148707C>T g.109606085C>T - - GNAT2_000024 - PubMed: Taylor 2017 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease 15011628 PubMed: Taylor 2017 no family history retinal disease M - United Kingdom (Great Britain) - - - - - 1 LOVD
+?/. - c.605G>A r.(?) p.(Gly202Glu) Both (homozygous) - likely pathogenic g.110148707C>T g.109606085C>T GNAT2;NM_005272.3;c.[605G>A];[605G>A];p.[(Gly202Glu)];[(Gly202Glu)] - GNAT2_000024 homozygous PubMed: Jiman 2020 - - Unknown ? - - - - DNA SEQ-NG-I - 176 genes panel retinal disease 64 PubMed: Jiman 2020 - M - (United Kingdom (Great Britain)) - - - - - 1 LOVD
+?/. - c.619G>A r.(?) p.(Glu207Lys) Parent #1 - likely pathogenic g.110148693C>T g.109606071C>T GNAT2 c.[619G>A];[124G>C] - GNAT2_000036 heterozygous; protein change not reported PubMed: Sun 2020 - - Unknown yes - - - - DNA SEQ-NG blood Whole-exome or targeted sequencing retinal disease 8296 PubMed: Sun 2020 - F - China - - - - - 1 LOVD
+/. 6 c.619G>A r.(?) p.(Glu207Lys) Both (homozygous) - pathogenic g.110148693C>T - c.619G>A - GNAT2_000036 - PubMed: Brunetti-Pierri_2021 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Brunetti-Pierri_2021 - - yes - Italian - - - - 1 LOVD
+/. 6 c.619G>A r.(?) p.(Glu207Lys) Both (homozygous) - pathogenic g.110148693C>T - c.619G>A - GNAT2_000036 - PubMed: Brunetti-Pierri_2021 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Brunetti-Pierri_2021 - - yes - Italian - - - - 1 LOVD
+?/. - c.620A>T r.(?) p.(Glu207Val) Parent #1 - likely pathogenic g.110148692T>A g.109606070T>A GNAT2, variant 1: c.620A>T/p.E207V , variant 2: c.886T>C/p.Y296H - GNAT2_000034 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 231 PubMed: Weisschuh 2020 Filing key number: 80, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.620A>T r.(?) p.(Glu207Val) Parent #1 - likely pathogenic g.110148692T>A g.109606070T>A GNAT2, variant 1: c.620A>T/p.E207V , variant 2: c.886T>C/p.Y296H - GNAT2_000034 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 232 PubMed: Weisschuh 2020 Filing key number: 80, cone dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. - c.620A>T r.(?) p.(Glu207Val) Maternal (confirmed) - VUS g.110148692T>A g.109606070T>A GNAT2 c.620A>T, p.(Glu207Val) - GNAT2_000034 heterozygous PubMed: Felden 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease ZD80-II:1 PubMed: Felden 2019 - F - - German - - - - 1 LOVD
?/. - c.623G>C r.(?) p.(Arg208Thr) Parent #1 - VUS g.110148689C>G g.109606067C>G GNAT2 c.623G>C, p.(Arg208Thr) - GNAT2_000043 heterozygous PubMed: Felden 2019 - - Germline ? - - - - DNA SEQ blood - retinal disease CHRO276-II:1 PubMed: Felden 2019 - M - - German - - - - 1 LOVD
+?/. - c.720+2T>C r.spl p.? Parent #2 - likely pathogenic (recessive) g.110148590A>G g.109605968A>G - - GNAT2_000027 - PubMed: Bryant 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease JB301 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
+/. - c.720+2T>C r.spl p.? Parent #2 - pathogenic g.110148590A>G g.109605968A>G GNAT2 c.720+2T>C, p.? - GNAT2_000027 heterozygous PubMed: Felden 2019 - - Germline ? - - - - DNA SEQ blood - retinal disease CHRO276-II:1 PubMed: Felden 2019 - M - - German - - - - 1 LOVD
?/. - c.724C>T r.(?) p.(Arg242Cys) Unknown - VUS g.110146723G>A g.109604101G>A GNAT2(NM_005272.3):c.724C>T (p.R242C) - GNAT2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.724C>T r.(?) p.(Arg242Cys) Unknown - VUS g.110146723G>A g.109604101G>A GNAT2 c.724C>T, p.(Arg242Cys) - GNAT2_000013 single heterozygous variant in a recessive disease, no second pathogenic allele found PubMed: Felden 2019 - - Unknown ? - - - - DNA SEQ blood - retinal disease CHRO1094-II:1 PubMed: Felden 2019 - F - - Morocco - - - - 1 LOVD
+?/. - c.730_743del r.(?) p.(His244Serfs*7) Parent #1 ACMG likely pathogenic (recessive) g.110146704_110146717del - c.730_743delCATGAGTCTTTGCA - GNAT2_000015 - PubMed: Kim 2019 - - Germline - 1/86 cases - - - DNA SEQ, SEQ-NG - 204 gene panel retinal disease - PubMed: Kim 2019 - - - Korea - - - - - 1 Global Variome, with Curator vacancy
+?/. - c.730_743del r.(?) p.(His244SerfsTer7) Unknown ACMG likely pathogenic g.110146704_110146717del g.109604082_109604095del GNAT2 c.730_743delCATGAGTCTTTGCA, p.H244Sfs - GNAT2_000015 - PubMed: Kim 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 204 genes associated with inherited retinal disorders, see paper retinal disease ? PubMed: Kim 2019 - ? - Korea, South (Republic) - - - - - 1 LOVD
+?/. 7 c.730_743del r.(?) p.(His244Serfs*7) Both (homozygous) - likely pathogenic g.110146704_110146717del g.109604082_109604095del GNAT2 c.730_743del, p.H244fs - GNAT2_000015 homozygous PubMed: Ueno 2016 - - Germline yes - - - - DNA SEQ-NG, SEQ - whole exome sequencing, CNGA3, CNGB3, PDE6C, PDE6H, and ATF6 negative retinal disease ? PubMed: Ueno 2016 - M no - - - - - - 1 LOVD
+?/. 7 c.802_803insTCAA r.(?) p.(Lys270GlnfsTer7) Both (homozygous) - likely pathogenic g.110146641_110146644dup g.109604019_109604022dup GNAT2 c.802_803insTCAA, p.L268fsX9 - GNAT2_000042 c.802_803insTCAA automapped to NM_005272.3:c.803_806dupTCAA; homozygous PubMed: Kohl 2002 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO94_II:3 PubMed: Kohl 2002 - M yes Germany German - - - - 1 LOVD
+?/. 7 c.811_813del r.(?) p.(Lys271del) Both (homozygous) - likely pathogenic g.110146637_110146639del g.109604015_109604017del GNAT2 Ex.7 c.811_813del p.(Lys271del), Ex.7 c.811_813del p.(Lys271del) - GNAT2_000031 homozygous PubMed: Martin Merida 2019 - - Germline yes - - - - DNA SEQ-NG-I - - retinal disease RP-2579 PubMed: Martin Merida 2019 - ? - Spain - - - - - 1 LOVD
+?/. - c.811_813delAAG r.(?) p.(Lys271del) Both (homozygous) - likely pathogenic g.110146637_110146639del g.109604015_109604017del GNAT2 c.811_813delAAG, p.(Lys271del) - GNAT2_000031 homozygous PubMed: Felden 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease CHRO469-II:1 PubMed: Felden 2019 - F - - Spanish - - - - 1 LOVD
+?/. - c.811_813delAAG r.(?) p.(Lys271del) Parent #2 - likely pathogenic g.110146637_110146639del g.109604015_109604017del GNAT2 c.811_813delAAG, p.(Lys271del) - GNAT2_000031 heterozygous PubMed: Felden 2019 - - Unknown ? - - - - DNA SEQ blood - retinal disease CHRO555-II:1 PubMed: Felden 2019 - M - - Spanish - - - - 1 LOVD
+?/. 7 c.815A>T r.(?) p.(Asp272Val) Both (homozygous) ACMG likely pathogenic g.110146632T>A g.109604010T>A - - GNAT2_000055 - PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - - Germline - - - - - DNA SEQ, SEQ-NG - smMIP-based 105 iMD/AMD genes macular dystrophy 074078 PubMed: Hitti-Malin 2024, Journal: Hitti-Malin 2024 - M - - - - - - - 1 Rebekkah Hitti-Malin
?/. 7 c.832dup r.(?) p.(Ile278Asnfs*14) Both (homozygous) - VUS g.110146615dup - c.832dup - GNAT2_000038 - PubMed: Brunetti-Pierri_2021 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Brunetti-Pierri_2021 - - yes - Italian - - - - 1 LOVD
?/. 7 c.832dup r.(?) p.(Ile278Asnfs*14) Both (homozygous) - VUS g.110146615dup - c.832dup - GNAT2_000038 - PubMed: Brunetti-Pierri_2021 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Brunetti-Pierri_2021 - - yes - Italian - - - - 1 LOVD
?/. 7 c.832dup r.(?) p.(Ile278Asnfs*14) Both (homozygous) - VUS g.110146615dup - c.832dup - GNAT2_000038 - PubMed: Brunetti-Pierri_2021 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Brunetti-Pierri_2021 - - yes - Italian - - - - 1 LOVD
?/. 7 c.832dup r.(?) p.(Ile278Asnfs*14) Both (homozygous) - VUS g.110146615dup - c.832dup - GNAT2_000038 - PubMed: Brunetti-Pierri_2021 - - Unknown - - - - - DNA PCR, SEQ blood - retinal disease - PubMed: Brunetti-Pierri_2021 - - yes - Italian - - - - 1 LOVD
+/. - c.840_843dup r.(?) p.(His282SerfsTer11) Both (homozygous) - pathogenic (recessive) g.110146604_110146607dup g.109603982_109603985dup 843_844insAGTC - GNAT2_000029 - PubMed: Dubis 2015 - - Germline - - - - - DNA SEQ - - retinal disease JC_1064 PubMed: Dubis 2015 - M - - - - - - - 1 LOVD
+/. - c.840_843dup r.(?) p.(His282SerfsTer11) Both (homozygous) - pathogenic (recessive) g.110146604_110146607dup g.109603982_109603985dup 843_844insAGTC - GNAT2_000029 - PubMed: Dubis 2015 - - Germline - - - - - DNA SEQ - - retinal disease JC_1065 PubMed: Dubis 2015 - M - - - - - - - 1 LOVD
+?/. 7 c.842_843insTCAG r.(?) p.(His282Glnfs*11) Both (homozygous) - likely pathogenic (recessive) g.110146604_110146605insCTGA - c842_843insTCAG; M280fsX291 - GNAT2_000016 - PubMed: Johnson 2004 - - Germline - - - - - DNA SEQ Blood - retinal disease - PubMed: Johnson 2004 - - - United Kingdom (Great Britain) - - - - - 1 Julia Lopez
+?/. 7 c.842_843insTCAG r.(?) p.(His282Glnfs*11) Both (homozygous) - likely pathogenic g.110146604_110146605insCTGA g.109603982_109603983insCTGA GNAT2 c842_843insTCAG; M280fsX291 - GNAT2_000016 homozygous PubMed: Aligianis 2002 - - Germline yes - - - - DNA STR, arraySNP, SEQ blood - retinal disease V:8 PubMed: Aligianis 2002 fully described phenotypes in PubMed: Michaelides 2003; three generation (multiple consanguineous loops) Pakistani family: 6 subjects with achromatopsia and 10 unaffected relatives M yes - Pakistani - - - - 1 LOVD
+?/. 7 c.842_843insTCAG r.(?) p.(His282Glnfs*11) Both (homozygous) - likely pathogenic g.110146604_110146605insCTGA g.109603982_109603983insCTGA GNAT2 c842_843insTCAG; M280fsX291 - GNAT2_000016 homozygous PubMed: Aligianis 2002 - - Germline yes - - - - DNA STR, arraySNP, SEQ blood - retinal disease VI:2 PubMed: Aligianis 2002 fully described phenotypes in PubMed: Michaelides 2003; three generation (multiple consanguineous loops) Pakistani family: 6 subjects with achromatopsia and 10 unaffected relatives M yes - Pakistani - - - - 1 LOVD
+?/. 7 c.842_843insTCAG r.(?) p.(His282Glnfs*11) Both (homozygous) - likely pathogenic g.110146604_110146605insCTGA g.109603982_109603983insCTGA GNAT2 c842_843insTCAG; M280fsX291 - GNAT2_000016 homozygous PubMed: Aligianis 2002 - - Germline yes - - - - DNA STR, arraySNP, SEQ blood - retinal disease VI:5 PubMed: Aligianis 2002 fully described phenotypes in PubMed: Michaelides 2003; three generation (multiple consanguineous loops) Pakistani family: 6 subjects with achromatopsia and 10 unaffected relatives F yes - Pakistani - - - - 1 LOVD
+?/. 7 c.842_843insTCAG r.(?) p.(His282Glnfs*11) Both (homozygous) - likely pathogenic g.110146604_110146605insCTGA g.109603982_109603983insCTGA GNAT2 c842_843insTCAG; M280fsX291 - GNAT2_000016 homozygous PubMed: Aligianis 2002 - - Germline yes - - - - DNA STR, arraySNP, SEQ blood - retinal disease VI:7 PubMed: Aligianis 2002 fully described phenotypes in PubMed: Michaelides 2003; three generation (multiple consanguineous loops) Pakistani family: 6 subjects with achromatopsia and 10 unaffected relatives M yes - Pakistani - - - - 1 LOVD
+?/. 7 c.842_843insTCAG r.(?) p.(His282Glnfs*11) Both (homozygous) - likely pathogenic g.110146604_110146605insCTGA g.109603982_109603983insCTGA GNAT2 c842_843insTCAG; M280fsX291 - GNAT2_000016 homozygous PubMed: Aligianis 2002 - - Germline yes - - - - DNA STR, arraySNP, SEQ blood - retinal disease VII:1 PubMed: Aligianis 2002 fully described phenotypes in PubMed: Michaelides 2003; three generation (multiple consanguineous loops) Pakistani family: 6 subjects with achromatopsia and 10 unaffected relatives M yes - Pakistani - - - - 1 LOVD
+?/. 7 c.842_843insTCAG r.(?) p.(His282Glnfs*11) Both (homozygous) - likely pathogenic g.110146604_110146605insCTGA g.109603982_109603983insCTGA GNAT2 c842_843insTCAG; M280fsX291 - GNAT2_000016 homozygous PubMed: Aligianis 2002 - - Germline yes - - - - DNA STR, arraySNP, SEQ blood - retinal disease VII:3 PubMed: Aligianis 2002 fully described phenotypes in PubMed: Michaelides 2003; three generation (multiple consanguineous loops) Pakistani family: 6 subjects with achromatopsia and 10 unaffected relatives F yes - Pakistani - - - - 1 LOVD
+/. 7 c.843_844insAGTC r.(?) p.(His282Serfs*11) Both (homozygous) - pathogenic g.110146603_110146604insGACT - c.843-844insAGTC - GNAT2_000030 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - M - - - - - - - 1 Julia Lopez
+/. 7 c.843_844insAGTC r.(?) p.(His282Serfs*11) Both (homozygous) - pathogenic g.110146603_110146604insGACT - c.843-844insAGTC - GNAT2_000030 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - M - - - - - - - 1 Julia Lopez
+/. 7 c.843_844insAGTC r.(?) p.(His282Serfs*11) Both (homozygous) - pathogenic g.110146603_110146604insGACT - c.843-844insAGTC - GNAT2_000030 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - F - - - - - - - 1 Julia Lopez
+/. 7 c.843_844insAGTC r.(?) p.(His282Serfs*11) Both (homozygous) - pathogenic g.110146603_110146604insGACT - c.843-844insAGTC - GNAT2_000030 - PubMed: Sundaram_2014 - - Germline - - - - - DNA SEQ blood - retinal disease - PubMed: Sundaram_2014 - M - - - - - - - 1 Julia Lopez
+?/. - c.886T>C r.(?) p.(Tyr296His) Parent #1 - likely pathogenic g.110146155A>G g.109603533A>G GNAT2, variant 1: c.620A>T/p.E207V , variant 2: c.886T>C/p.Y296H - GNAT2_000033 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET3 targeted sequencing panel - see paper retinal disease 231 PubMed: Weisschuh 2020 Filing key number: 80, cone dystrophy, no patient Ids, consecutive numbers given F - Germany - - - - - 1 LOVD
+?/. - c.886T>C r.(?) p.(Tyr296His) Parent #1 - likely pathogenic g.110146155A>G g.109603533A>G GNAT2, variant 1: c.620A>T/p.E207V , variant 2: c.886T>C/p.Y296H - GNAT2_000033 possibly solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ blood Sanger sequencing retinal disease 232 PubMed: Weisschuh 2020 Filing key number: 80, cone dystrophy, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. - c.886T>C r.(?) p.(Tyr296His) Paternal (confirmed) - VUS g.110146155A>G g.109603533A>G GNAT2 c.886T>C, p.(Tyr296His) - GNAT2_000033 heterozygous PubMed: Felden 2019 - - Germline yes - - - - DNA SEQ blood - retinal disease ZD80-II:1 PubMed: Felden 2019 - F - - German - - - - 1 LOVD
+?/. - c.896C>A r.(?) p.(Ala299Glu) Parent #1 - likely pathogenic (recessive) g.110146145G>T g.109603523G>T - - GNAT2_000026 - PubMed: Bryant 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease JB301 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
?/. - c.896C>T r.(?) p.(Ala299Val) Parent #1 - VUS g.110146145G>A g.109603523G>A - - GNAT2_000014 heterozygous variant only, does not fit phenotype PubMed: Arno 2017 - - Germline - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES retinal disease FamGC17880Pat3 PubMed: Arno 2017 3-generation family, 1 affeted, unaffected heterozygous carrier parents/relatives F yes - - - - - - 1 Johan den Dunnen
+/. - c.906C>A r.(?) p.(Tyr302*) Both (homozygous) - pathogenic (recessive) g.110146135G>T - 1:110146135G>T ENST00000351050.3:c.906C>A (Tyr302Ter) - GNAT2_000023 - PubMed: Carss 2017 - - Germline - - - - - DNA SEQ-NG - WGS retinal disease G007665 PubMed: Carss 2017 - F - United Kingdom (Great Britain) American - - - - 1 LOVD
+?/. - c.906C>A r.(?) p.(Tyr302*) Both (homozygous) - likely pathogenic g.110146135G>T g.109603513G>T GNAT2 c.906C>A, p.Tyr302Ter - GNAT2_000023 homozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - - - DNA SEQ-NG-I blood whole genome sequencing retinal disease G007665 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.928C>T r.(?) p.(Leu310Phe) Unknown ACMG VUS g.110146113G>A g.109603491G>A GNAT2:NM_005272 c.C928T, p.L310F - GNAT2_000032 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-342 PubMed: Rodriguez-Munoz 2020 family fRPN-173, proband M - Spain - - - - - 1 LOVD
-?/. 8 c.933T>C r.(=) p.(=) Parent #1 - likely benign (!) g.110146108A>G - p.N311N - GNAT2_000017 Isocoding PubMed: Nishiguchi 2005 - - Germline - - - - - DNA SEQ - - retinal disease - PubMed: Nishiguchi 2005 - - - - - - - - - 1 Julia Lopez
+?/. - c.937C>T r.(?) p.(Arg313*) Both (homozygous) - likely pathogenic g.110146104G>A g.109603482G>A - - GNAT2_000028 - PubMed: Ellingford 2016 - - Germline - - - - - DNA SEQ - 105-gene panel retinal disease 13007934 PubMed: Ellingford 2016 familial segregation analysis requested - - - - - - - - 1 LOVD
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