Full data view for gene RGS9

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

56 entries on 1 page. Showing entries 1 - 56.
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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.15C>T r.(?) p.(His5=) Unknown - likely benign g.63133673C>T g.65137555C>T RGS9(NM_003835.4):c.15C>T (p.H5=) - RGS9_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.66G>A r.(?) p.(Ala22=) Unknown - benign g.63149548G>A g.65153430G>A RGS9(NM_003835.3):c.66G>A (p.A22=), RGS9(NM_003835.4):c.66G>A (p.A22=) - RGS9_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.66G>A r.(?) p.(Ala22=) Unknown - likely benign g.63149548G>A g.65153430G>A RGS9(NM_003835.3):c.66G>A (p.A22=), RGS9(NM_003835.4):c.66G>A (p.A22=) - RGS9_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.69C>T r.(?) p.(Leu23=) Unknown - likely benign g.63149551C>T - RGS9(NM_003835.4):c.69C>T (p.L23=) - RGS9_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.135C>T r.(?) p.(Ser45=) Unknown - likely benign g.63149617C>T g.65153499C>T RGS9(NM_003835.3):c.135C>T (p.S45=) - RGS9_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.178G>A r.(?) p.(Val60Ile) Unknown - benign g.63154436G>A g.65158318G>A RGS9(NM_003835.3):c.178G>A (p.V60I), RGS9(NM_003835.4):c.178G>A (p.V60I) - RGS9_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.178G>A r.(?) p.(Val60Ile) Unknown - benign g.63154436G>A g.65158318G>A RGS9(NM_003835.3):c.178G>A (p.V60I), RGS9(NM_003835.4):c.178G>A (p.V60I) - RGS9_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.313A>G r.(?) p.(Thr105Ala) Unknown - likely benign g.63156654A>G g.65160536A>G RGS9(NM_003835.3):c.313A>G (p.T105A), RGS9(NM_003835.4):c.313A>G (p.T105A) - RGS9_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.313A>G r.(?) p.(Thr105Ala) Unknown - VUS g.63156654A>G g.65160536A>G RGS9(NM_003835.3):c.313A>G (p.T105A), RGS9(NM_003835.4):c.313A>G (p.T105A) - RGS9_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.314C>G r.(?) p.(Thr105Arg) Unknown - likely benign g.63156655C>G g.65160537C>G RGS9(NM_003835.3):c.314C>G (p.T105R), RGS9(NM_003835.4):c.314C>G (p.T105R) - RGS9_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.314C>G r.(?) p.(Thr105Arg) Unknown - VUS g.63156655C>G g.65160537C>G RGS9(NM_003835.3):c.314C>G (p.T105R), RGS9(NM_003835.4):c.314C>G (p.T105R) - RGS9_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.337C>T r.(?) p.(Gln113*) Unknown - likely pathogenic g.63156678C>T - RGS9(NM_003835.4):c.337C>T (p.(Gln113*)) - RGS9_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.495G>A r.(?) p.(Gln165=) Unknown - benign g.63159202G>A g.65163084G>A RGS9(NM_003835.3):c.495G>A (p.Q165=), RGS9(NM_003835.4):c.495G>A (p.Q165=) - RGS9_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.495G>A r.(?) p.(Gln165=) Unknown - likely benign g.63159202G>A g.65163084G>A RGS9(NM_003835.3):c.495G>A (p.Q165=), RGS9(NM_003835.4):c.495G>A (p.Q165=) - RGS9_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.501-20C>T r.(=) p.(=) Unknown - benign g.63164298C>T g.65168180C>T RGS9(NM_003835.4):c.501-20C>T - RGS9_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.510G>A r.(?) p.(Lys170=) Unknown - likely benign g.63164327G>A - RGS9(NM_003835.3):c.510G>A (p.K170=) - RGS9_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.570G>C r.(?) p.(Val190=) Unknown - benign g.63164387G>C g.65168269G>C RGS9(NM_003835.4):c.570G>C (p.V190=) - RGS9_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.659A>G r.(?) p.(Gln220Arg) Unknown - likely benign g.63185408A>G - RGS9(NM_003835.4):c.659A>G - RGS9_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.660_663del r.(?) p.(Thr221Serfs*15) Unknown - likely pathogenic g.63185409_63185412del - RGS9(NM_001165933.2):c.651_654delAACA (p.T218Sfs*15) - RGS9_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.704C>T r.(?) p.(Ala235Val) Parent #1 - likely pathogenic g.63186312C>T g.65190194C>T - - RGS9_000028 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs786205509 Germline - 2/2794 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
+/. - c.766C>T r.(?) p.(Gln256Ter) Unknown - pathogenic g.63189680C>T g.65193562C>T - - RGS9_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 13 c.892C>T r.(?) p.(Arg298Ter) Unknown - VUS g.63193275C>T g.65197157C>T C892T - RGS9_000032 - PubMed: Katagiri 2014 - - Germline - - - - - DNA SEQ-NG - WES retinal disease RP#030 PubMed: Katagiri 2014 family - - Japan - - - - - 1 LOVD
+/. - c.895T>C r.(?) p.(Trp299Arg) Unknown - pathogenic g.63193278T>C g.65197160T>C RGS9(NM_003835.4):c.895T>C (p.W299R, p.(Trp299Arg)) - RGS9_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.895T>C r.(?) p.(Trp299Arg) Unknown - likely pathogenic g.63193278T>C g.65197160T>C RGS9(NM_003835.4):c.895T>C (p.W299R, p.(Trp299Arg)) - RGS9_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.895T>C r.(?) p.(Trp299Arg) Unknown ACMG pathogenic g.63193278T>C g.65197160T>C CNGB3 c.1148del, p.(Thr383Ilefs*13), c.1148del, p.(Thr383Ilefs*13), RGS9 c.895T>C, p.(Trp299Arg) - RGS9_000012 - PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 91 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+/. - c.895T>C r.(?) p.(Trp299Arg) Unknown ACMG pathogenic g.63193278T>C g.65197160T>C RGS9 c.895T>C, p.(Trp299Arg) - RGS9_000012 single heterozygous variant (recessive) PubMed: Jespersgaar 2019 - - Germline ? - - - - DNA SEQ-NG-I blood 125 genes associated with inherited retinal disorders, see paper supplemental data retinal disease 454 PubMed: Jespersgaar 2019 - ? - Denmark - - - - - 1 LOVD
+?/. - c.895T>C r.(?) p.(Trp299Arg) Unknown - likely pathogenic g.63193278T>C - RGS9(NM_003835.4):c.895T>C (p.W299R, p.(Trp299Arg)) - RGS9_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.895T>C r.(?) p.(Trp299Arg) Unknown - pathogenic g.63193278T>C - RGS9(NM_003835.4):c.895T>C (p.W299R, p.(Trp299Arg)) - RGS9_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1139T>A r.(?) p.(Leu380Gln) Unknown - VUS g.63200355T>A g.65204237T>A RGS9(NM_003835.4):c.1139T>A (p.L380Q) - RGS9_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1146C>A r.(?) p.(His382Gln) Unknown ACMG VUS g.63200362C>A g.65204244C>A RGS9:NM_003835 c.C1146A, p.H382Q - RGS9_000034 heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-482 PubMed: Rodriguez-Munoz 2020 family fRPN-214, proband M - Spain - - - - - 1 LOVD
?/. - c.1238A>G r.(?) p.(Tyr413Cys) Unknown - VUS g.63204074A>G g.65207956A>G - - RGS9_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1275A>C r.(?) p.(Glu425Asp) Unknown ACMG VUS g.63204111A>C g.65207993A>C RGS9:NM_003835 c.A1275C, p.E425D - RGS9_000035 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.1289+14T>A r.(=) p.(=) Unknown - benign g.63204139T>A g.65208021T>A RGS9(NM_003835.4):c.1289+14T>A - RGS9_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1351C>A r.(?) p.(Gln451Lys) Unknown - VUS g.63206667C>A g.65210549C>A - - RGS9_000031 - PubMed: Bryant 2018 - - Germline - - - - - DNA SEQ-NG - WES retinal disease JB274 PubMed: Bryant 2018 - - - United States - - - - - 1 LOVD
?/. - c.1407+37A>G r.(=) p.(=) Unknown ACMG VUS g.63206760A>G g.65210642A>G RGS9:NM_001165933 c.A1435G, p.K479E - RGS9_000036 different transcript: NM_001165933.1(RGS9):c.1435A>G, p.(Lys479Glu), heterozygous, individual solved, variant non-causal PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-379 PubMed: Rodriguez-Munoz 2020 family fRPN-179, proband F - Spain - - - - - 1 LOVD
-/. - c.1407+45G>T r.(=) p.(=) Unknown - benign g.63206768G>T g.65210650G>T RGS9(NM_001165933.2):c.1443G>T (p.L481=) - RGS9_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1417C>T r.(?) p.(His473Tyr) Unknown - VUS g.63221129C>T g.65225011C>T RGS9(NM_003835.3):c.1417C>T (p.H473Y) - RGS9_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1502G>A r.(?) p.(Arg501His) Parent #1 - benign g.63221214G>A g.65225096G>A - - RGS9_000029 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs34797451 Germline - 5/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 5 Mohammed Faruq
-?/. - c.1521C>G r.(?) p.(Phe507Leu) Unknown - likely benign g.63221233C>G g.65225115C>G RGS9(NM_003835.3):c.1521C>G (p.F507L) - RGS9_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1546C>T r.(?) p.(Arg516Ter) Unknown - VUS g.63221258C>T g.65225140C>T RGS9(NM_003835.4):c.1546C>T (p.R516*) - RGS9_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1546C>T r.(?) p.(Arg516Ter) Unknown ACMG likely pathogenic g.63221258C>T g.65225140C>T RGS9:NM_003835 c.C1546T, p.R516X - RGS9_000026 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-427 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
-/. - c.1630G>A r.(?) p.(Gly544Arg) Unknown - benign g.63221342G>A g.65225224G>A RGS9(NM_003835.3):c.1630G>A (p.G544R) - RGS9_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1658T>C r.(?) p.(Val553Ala) Unknown - VUS g.63221370T>C g.65225252T>C RGS9(NM_003835.3):c.1658T>C (p.V553A) - RGS9_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1765G>A r.(?) p.(Gly589Ser) Unknown - VUS g.63221477G>A - RGS9(NM_003835.3):c.1765G>A (p.G589S) - RGS9_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1769G>C r.(?) p.(Cys590Ser) Unknown - VUS g.63221481G>C g.65225363G>C RGS9(NM_003835.4):c.1769G>C (p.C590S) - RGS9_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1851G>C r.(?) p.(Val617=) Unknown - benign g.63221563G>C g.65225445G>C RGS9(NM_003835.3):c.1851G>C (p.V617=), RGS9(NM_003835.4):c.1851G>C (p.V617=) - RGS9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1851G>C r.(?) p.(Val617=) Unknown - likely benign g.63221563G>C g.65225445G>C RGS9(NM_003835.3):c.1851G>C (p.V617=), RGS9(NM_003835.4):c.1851G>C (p.V617=) - RGS9_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1867C>T r.(?) p.(Arg623Ter) Unknown - VUS g.63221579C>T g.65225461C>T RGS9(NM_003835.3):c.1867C>T (p.R623*), RGS9(NM_003835.4):c.1867C>T (p.R623*) - RGS9_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1867C>T r.(?) p.(Arg623Ter) Unknown - VUS g.63221579C>T g.65225461C>T RGS9(NM_003835.3):c.1867C>T (p.R623*), RGS9(NM_003835.4):c.1867C>T (p.R623*) - RGS9_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1868G>C r.(?) p.(Arg623Pro) Unknown - VUS g.63221580G>C g.65225462G>C RGS9(NM_003835.4):c.1868G>C (p.R623P) - RGS9_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1892+20G>A r.(=) p.(=) Unknown - likely benign g.63221624G>A - RGS9(NM_003835.4):c.1892+20G>A - RGS9_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1893-15C>T r.(=) p.(=) Unknown - likely benign g.63223378C>T - RGS9(NM_003835.4):c.1893-15C>T - RGS9_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1925G>A r.(?) p.(Gly642Glu) Unknown - likely benign g.63223425G>A g.65227307G>A RGS9(NM_003835.4):c.1925G>A (p.G642E) - RGS9_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1929C>T r.(?) p.(Ser643=) Unknown - likely benign g.63223429C>T g.65227311C>T RGS9(NM_003835.3):c.1929C>T (p.S643=) - RGS9_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1964C>T r.(?) p.(Thr655Ile) Unknown - likely benign g.63223464C>T g.65227346C>T RGS9(NM_003835.3):c.1964C>T (p.T655I) - RGS9_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1964C>T r.(?) p.(Thr655Ile) Unknown ACMG VUS g.63223464C>T g.65227346C>T RGS9:NM_003835 c.C1964T, p.T655I - RGS9_000010 heterozygous, individual unsolved, causality of variants unknown PubMed: Rodriguez-Munoz 2020 - - Germline ? - - - - DNA SEQ-NG-I blood - retinal disease RPN-293 PubMed: Rodriguez-Munoz 2020 - ? - Spain - - - - - 1 LOVD
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