Full data view for gene SDCCAG8

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_006642.3 transcript reference sequence.

162 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.-4G>A r.(?) p.(=) Unknown - VUS g.243419472G>A g.243256170G>A SDCCAG8(NM_006642.4):c.-4G>A - SDCCAG8_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.? r.? p.? Parent #2 - pathogenic g.? - p.Arg374* - NPHS2_000000 - PubMed: Carrigan 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - - - - 1 LOVD
+/. - c.? r.? p.? Parent #2 - pathogenic g.? - p.Tyr232* - NPHS2_000000 - PubMed: Carrigan 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - - - - 1 LOVD
+/. - c.? r.(?) p.? Unknown - pathogenic g.? - p.R464K - NPHS2_000000 - PubMed: M'hamdi 2014 - - Unknown - - - - - DNA SEQ blood - retinal disease - PubMed: M'hamdi_2014 - F yes Tunisia Tunisian - - - - 1 LOVD
+?/. - c.? r.(?) p.? Unknown - likely pathogenic g.? - BBS16: p.R464K - NPHS2_000000 - PubMed: M'hamdi-2014 - - Germline - - - - - DNA SEQ - targeted exon capture strategy retinal disease - PubMed: M'hamdi-2014 - F yes Tunisia Tunisian - - - - 1 LOVD
?/. - c.41T>C r.(?) p.(Leu14Pro) Unknown - VUS g.243419516T>C g.243256214T>C SDCCAG8(NM_006642.3):c.41T>C (p.(Leu14Pro)) - SDCCAG8_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.93A>G r.(?) p.(Gln31=) Unknown - benign g.243433432A>G g.243270130A>G SDCCAG8(NM_001350248.1):c.93A>G (p.Q31=), SDCCAG8(NM_006642.5):c.93A>G (p.Q31=) - SDCCAG8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.93A>G r.(?) p.(Gln31=) Unknown - benign g.243433432A>G g.243270130A>G SDCCAG8(NM_001350248.1):c.93A>G (p.Q31=), SDCCAG8(NM_006642.5):c.93A>G (p.Q31=) - SDCCAG8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.93A>G r.(?) p.(Gln31=) Unknown - likely benign g.243433432A>G - SDCCAG8(NM_001350248.1):c.93A>G (p.Q31=), SDCCAG8(NM_006642.5):c.93A>G (p.Q31=) - SDCCAG8_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.99A>G r.(?) p.(Thr33=) Unknown - likely benign g.243433438A>G - SDCCAG8(NM_001350248.1):c.99A>G (p.T33=) - SDCCAG8_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.191C>T r.(?) p.(Ala64Val) Unknown - VUS g.243433530C>T g.243270228C>T SDCCAG8(NM_006642.5):c.191C>T (p.A64V) - SDCCAG8_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.233A>G r.(?) p.(Lys78Arg) Unknown - likely benign g.243434292A>G g.243270990A>G SDCCAG8(NM_001350248.1):c.233A>G (p.K78R), SDCCAG8(NM_006642.3):c.233A>G (p.(Lys78Arg)), SDCCAG8(NM_006642.5):c.233A>G (p.K78R) - SDCCAG8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.233A>G r.(?) p.(Lys78Arg) Unknown - likely benign g.243434292A>G g.243270990A>G SDCCAG8(NM_001350248.1):c.233A>G (p.K78R), SDCCAG8(NM_006642.3):c.233A>G (p.(Lys78Arg)), SDCCAG8(NM_006642.5):c.233A>G (p.K78R) - SDCCAG8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.233A>G r.(?) p.(Lys78Arg) Unknown - VUS g.243434292A>G - SDCCAG8(NM_001350248.1):c.233A>G (p.K78R), SDCCAG8(NM_006642.3):c.233A>G (p.(Lys78Arg)), SDCCAG8(NM_006642.5):c.233A>G (p.K78R) - SDCCAG8_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.237T>A r.(?) p.(Asp79Glu) Unknown - likely benign g.243434296T>A g.243270994T>A SDCCAG8(NM_006642.4):c.237T>A (p.D79E) - SDCCAG8_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.267T>C r.(?) p.(Ser89=) Unknown - benign g.243434326T>C g.243271024T>C SDCCAG8(NM_006642.5):c.267T>C (p.S89=) - SDCCAG8_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.278C>T r.(?) p.(Pro93Leu) Unknown - VUS g.243434337C>T g.243271035C>T SDCCAG8(NM_006642.3):c.278C>T (p.(Pro93Leu)), SDCCAG8(NM_006642.4):c.278C>T (p.P93L), SDCCAG8(NM_006642.5):c.278C>T (p.P93L) - SDCCAG8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.278C>T r.(?) p.(Pro93Leu) Unknown - VUS g.243434337C>T g.243271035C>T SDCCAG8(NM_006642.3):c.278C>T (p.(Pro93Leu)), SDCCAG8(NM_006642.4):c.278C>T (p.P93L), SDCCAG8(NM_006642.5):c.278C>T (p.P93L) - SDCCAG8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.278C>T r.(?) p.(Pro93Leu) Unknown - likely benign g.243434337C>T g.243271035C>T SDCCAG8(NM_006642.3):c.278C>T (p.(Pro93Leu)), SDCCAG8(NM_006642.4):c.278C>T (p.P93L), SDCCAG8(NM_006642.5):c.278C>T (p.P93L) - SDCCAG8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.278C>T r.(?) p.(Pro93Leu) Parent #1 - VUS g.243434337C>T g.243271035C>T - - SDCCAG8_000008 19 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs140413256 Germline - 19/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 19 Mohammed Faruq
-?/. - c.278C>T r.(?) p.(Pro93Leu) Unknown - likely benign g.243434337C>T - SDCCAG8(NM_006642.3):c.278C>T (p.(Pro93Leu)), SDCCAG8(NM_006642.4):c.278C>T (p.P93L), SDCCAG8(NM_006642.5):c.278C>T (p.P93L) - SDCCAG8_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.279G>A r.(?) p.(Pro93=) Unknown - benign g.243434338G>A g.243271036G>A SDCCAG8(NM_001350248.1):c.279G>A (p.P93=), SDCCAG8(NM_006642.5):c.279G>A (p.P93=) - SDCCAG8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.279G>A r.(?) p.(Pro93=) Unknown - likely benign g.243434338G>A g.243271036G>A SDCCAG8(NM_001350248.1):c.279G>A (p.P93=), SDCCAG8(NM_006642.5):c.279G>A (p.P93=) - SDCCAG8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.279G>A r.(?) p.(Pro93=) Unknown - benign g.243434338G>A - SDCCAG8(NM_001350248.1):c.279G>A (p.P93=), SDCCAG8(NM_006642.5):c.279G>A (p.P93=) - SDCCAG8_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.307-14A>T r.(=) p.(=) Unknown - likely benign g.243437831A>T - SDCCAG8(NM_001350251.2):c.-1067-14A>T - SDCCAG8_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.348C>T r.(?) p.(His116=) Unknown - likely benign g.243437886C>T g.243274584C>T SDCCAG8(NM_006642.4):c.348C>T (p.H116=) - SDCCAG8_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.371A>G r.(?) p.(Asp124Gly) Unknown - VUS g.243437909A>G g.243274607A>G SDCCAG8(NM_006642.5):c.371A>G (p.D124G) - SDCCAG8_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.386T>G r.(?) p.(Ile129Ser) Unknown - VUS g.243437924T>G - SDCCAG8(NM_006642.5):c.386T>G (p.(Ile129Ser)) - SDCCAG8_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.420+3A>G r.spl? p.? Unknown - likely benign g.243437961A>G g.243274659A>G SDCCAG8(NM_006642.5):c.420+3A>G - SDCCAG8_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4i_7i c.(420+1_421-1)_(740+1_741-1)del r.(?) p.(Glu141_Arg247delfs) Both (homozygous) - likely pathogenic g.(243437959_243449573)_(g.243468080_243471290)del g.(243274657_243286271)_(243304778_243307988)del SDCCAG8 c.421-?_740+?del, p.E141_R247del107fs - SDCCAG8_000073 homozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 F159-21 PubMed: Otto 2010 family F159, individual 21 - yes - Europe - - - - 1 LOVD
+?/. 4i_7i c.(420+1_421-1)_(740+1_741-1)del r.(?) p.(Glu141_Arg247delfs) Both (homozygous) - likely pathogenic g.(243437959_243449573)_(g.243468080_243471290)del g.(243274657_243286271)_(243304778_243307988)del SDCCAG8 c.421-?_740+?del, p.E141_R247del107fs - SDCCAG8_000073 homozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 F159-22 PubMed: Otto 2010 family F159, individual 22 - yes - Europe - - - - 1 LOVD
-?/. - c.572C>T r.(?) p.(Thr191Ile) Unknown - likely benign g.243456418C>T g.243293116C>T SDCCAG8(NM_006642.4):c.572C>T (p.T191I) - SDCCAG8_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.597C>A r.(?) p.(Gly199=) Unknown - likely benign g.243456443C>A g.243293141C>A SDCCAG8(NM_001350248.1):c.597C>A (p.G199=), SDCCAG8(NM_001350248.2):c.597C>A (p.G199=) - SDCCAG8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.597C>A r.(?) p.(Gly199=) Unknown - likely benign g.243456443C>A g.243293141C>A SDCCAG8(NM_001350248.1):c.597C>A (p.G199=), SDCCAG8(NM_001350248.2):c.597C>A (p.G199=) - SDCCAG8_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.598G>A r.(?) p.(Glu200Lys) Unknown - VUS g.243456444G>A - SDCCAG8(NM_001350248.2):c.598G>A (p.E200K) - SDCCAG8_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.675+181A>G r.(=) p.(=) Unknown - VUS g.243456702A>G - SDCCAG8(NM_001350248.1):c.677A>G (p.N226S) - SDCCAG8_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.675+182C>G r.(=) p.(=) Unknown - VUS g.243456703C>G - SDCCAG8(NM_001350248.2):c.678C>G (p.(Asn226Lys)) - SDCCAG8_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.675+187T>C r.(=) p.(=) Unknown - likely benign g.243456708T>C g.243293406T>C SDCCAG8(NM_006642.5):c.675+187T>C - SDCCAG8_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.676-9T>C r.(=) p.(=) Unknown - likely benign g.243468006T>C g.243304704T>C SDCCAG8(NM_006642.4):c.676-9T>C - SDCCAG8_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.679A>T r.(?) p.(Lys227*) Both (homozygous) - likely pathogenic g.243468018A>T g.243304716A>T SDCCAG8 c.679A>T, p.K227X - SDCCAG8_000074 homozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 FII.22-21 PubMed: Otto 2010 family FII.22, individual 21 - yes - - - - - - 1 LOVD
+?/. 7 c.679A>T r.(?) p.(Lys227*) Both (homozygous) - likely pathogenic g.243468018A>T g.243304716A>T SDCCAG8 c.679A>T, p.K227X - SDCCAG8_000074 homozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 FII.22-22 PubMed: Otto 2010 family FII.22, individual 22 - yes - - - - - - 1 LOVD
+/. - c.679A>T r.(?) p.(Lys227*) Unknown - pathogenic g.243468018A>T - SDCCAG8(NM_006642.5):c.679A>T (p.K227*) - SDCCAG8_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.695A>C r.(?) p.(Tyr232Ser) Unknown - VUS g.243468034A>C - SDCCAG8(NM_001350248.1):c.791A>C (p.Y264S) - SDCCAG8_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.696T>G r.(?) p.(Tyr232*) Parent #1 - pathogenic g.243468035T>G g.243304733T>G - - SDCCAG8_000053 - PubMed: Carrigan 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - - - - 1 LOVD
+?/. 7 c.696T>G r.(?) p.(Tyr232*) Parent #1 - likely pathogenic g.243468035T>G g.243304733T>G SDCCAG8 c.696T>G, p.Y232X - SDCCAG8_000053 heterozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 AR37-05 PubMed: Otto 2010 family AR37, individual 05 - no - Northern European - - - - 1 LOVD
+?/. 7 c.696T>G r.(?) p.(Tyr232*) Parent #1 - likely pathogenic g.243468035T>G g.243304733T>G SDCCAG8 c.696T>G, p.Y232X - SDCCAG8_000053 heterozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 AR37-07 PubMed: Otto 2010 family AR37, individual 07 - no - Northern European - - - - 1 LOVD
+?/. 7 c.696T>G r.(?) p.(Tyr232*) Parent #1 - likely pathogenic g.243468035T>G g.243304733T>G SDCCAG8 c.696T>G, p.Y232X - SDCCAG8_000053 heterozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 AR37-02 PubMed: Otto 2010 family AR37, individual 02 - no - Northern European - - - - 1 LOVD
+?/. 7i c.740+1del r.spl p.? Parent #2 - likely pathogenic g.243468080del g.243304778del SDCCAG8 c.740+1delG, p.R247fsX250 - SDCCAG8_000075 heterozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 AR37-05 PubMed: Otto 2010 family AR37, individual 05 - no - Northern European - - - - 1 LOVD
+?/. 7i c.740+1del r.spl p.? Parent #2 - likely pathogenic g.243468080del g.243304778del SDCCAG8 c.740+1delG, p.R247fsX250 - SDCCAG8_000075 heterozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 AR37-07 PubMed: Otto 2010 family AR37, individual 07 - no - Northern European - - - - 1 LOVD
+?/. 7i c.740+1del r.spl p.? Parent #2 - likely pathogenic g.243468080del g.243304778del SDCCAG8 c.740+1delG, p.R247fsX250 - SDCCAG8_000075 heterozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 AR37-02 PubMed: Otto 2010 family AR37, individual 02 - no - Northern European - - - - 1 LOVD
?/. - c.740+267C>T r.spl? p.? Unknown ACMG VUS g.243468346C>T g.243305044C>T - - SDCCAG8_000083 ACMG PM2 PubMed: Weisschuh 2024 - - Germline - - - - - DNA SEQ-NG - WGS ? ARRP-285 PubMed: Weisschuh 2024 family, 2 affected F - Germany - - - - - 2 Johan den Dunnen
+?/. - c.740+356C>T r.spl p.(?) Parent #1 - likely pathogenic g.243468435C>T g.243305133C>T SDCCAG8, variant 1: c.740+356C>T/p.?, variant 2: c.740+356C>T/p.? - SDCCAG8_000062 solved, homozygous PubMed: Weisschuh 2020 - - Unknown ? - - - - DNA SEQ-NG blood RET7 targeted sequencing panel - see paper retinal disease 1194 PubMed: Weisschuh 2020 Filing key number: 890, sporadic retinitis pigmentosa, no patient Ids, consecutive numbers given M - Germany - - - - - 1 LOVD
?/. - c.740+356C>T r.spl p.(?) Unknown - VUS g.243468435C>T g.243305133C>T SDCCAG8 nucleotide 1, protein 1:c.740+356C>T, p.? nucleotide 2, protein 2:c.1324dupC, p.Gln442Profs*22 - SDCCAG8_000062 heterozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline yes - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 86 PubMed: Hull 2020 - ? - New Zealand white - - - - 1 LOVD
+?/. 7i c.740+356C>T r.[740_741ins[740+235_740+346],740_741ins[740+235_740_346;741-202_741-106]] p.Asp249LysfsTer20 Both (homozygous) - likely pathogenic g.243468435C>T g.243305133C>T SDCCAG8 c.740+356C>T, loss of ESE site (aberrant ins IVS7) introducing an in-frame stop codon - SDCCAG8_000062 homozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 FI.2-21 PubMed: Otto 2010 family FI.2, individual 21 - yes - Gypsy - - - - 1 LOVD
+?/. 7i c.740+356C>T r.[740_741ins[740+235_740+346],740_741ins[740+235_740_346;741-202_741-106]] p.Asp249LysfsTer20 Both (homozygous) - likely pathogenic g.243468435C>T g.243305133C>T SDCCAG8 c.740+356C>T, loss of ESE site (aberrant ins IVS7) introducing an in-frame stop codon - SDCCAG8_000062 homozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 FI.2-22 PubMed: Otto 2010 family FI.2, individual 22 - yes - Gypsy - - - - 1 LOVD
+?/. 7i c.740+356C>T r.[740_741ins[740+235_740+346],740_741ins[740+235_740_346;741-202_741-106]] p.Asp249LysfsTer20 Both (homozygous) - likely pathogenic g.243468435C>T g.243305133C>T SDCCAG8 c.740+356C>T, loss of ESE site (aberrant ins IVS7) introducing an in-frame stop codon - SDCCAG8_000062 homozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 FI.2-23 PubMed: Otto 2010 family FI.2, individual 23 - yes - Gypsy - - - - 1 LOVD
+?/. 7i c.740+356C>T r.[740_741ins[740+235_740+346],740_741ins[740+235_740_346;741-202_741-106]] p.Asp249LysfsTer20 Both (homozygous) - likely pathogenic g.243468435C>T g.243305133C>T SDCCAG8 c.740+356C>T, loss of ESE site (aberrant ins IVS7) introducing an in-frame stop codon - SDCCAG8_000062 homozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 FI.2-24 PubMed: Otto 2010 family FI.2, individual 24 - yes - Gypsy - - - - 1 LOVD
+/. - c.740+356C>T r.(=) p.(=) Unknown - pathogenic g.243468435C>T - SDCCAG8(NM_006642.5):c.740+356C>T - SDCCAG8_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.740+356C>T r.spl p.? Parent #1 - likely pathogenic g.243468435C>T g.243305133C>T SDCCAG8 c.740+356C>T, p.? - SDCCAG8_000062 heterozygous PubMed: Tay 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease ? PubMed: Tay 2020 - F - New Zealand Ashkenazi and Sephardic Jewish - - - - 1 LOVD
?/. - c.741-105G>T r.(=) p.(=) Unknown - VUS g.243471186G>T - SDCCAG8(NM_001350251.1):c.-164+1G>T - SDCCAG8_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.744C>T r.(?) p.(Asn248=) Unknown - likely benign g.243471294C>T g.243307992C>T SDCCAG8(NM_001350248.2):c.840C>T (p.N280=), SDCCAG8(NM_006642.4):c.744C>T (p.N248=) - SDCCAG8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.744C>T r.(?) p.(Asn248=) Unknown - likely benign g.243471294C>T - SDCCAG8(NM_001350248.2):c.840C>T (p.N280=), SDCCAG8(NM_006642.4):c.744C>T (p.N248=) - SDCCAG8_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.778C>G r.(?) p.(Leu260Val) Unknown - VUS g.243471328C>G g.243308026C>G SDCCAG8(NM_001350248.1):c.874C>G (p.L292V), SDCCAG8(NM_006642.5):c.778C>G (p.L260V) - SDCCAG8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.778C>G r.(?) p.(Leu260Val) Unknown - VUS g.243471328C>G g.243308026C>G SDCCAG8(NM_001350248.1):c.874C>G (p.L292V), SDCCAG8(NM_006642.5):c.778C>G (p.L260V) - SDCCAG8_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.798T>C r.(?) p.(His266=) Unknown - benign g.243471348T>C g.243308046T>C SDCCAG8(NM_001350248.2):c.894T>C (p.H298=), SDCCAG8(NM_006642.4):c.798T>C (p.H266=) - SDCCAG8_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.798T>C r.(?) p.(His266=) Unknown - likely benign g.243471348T>C - SDCCAG8(NM_001350248.2):c.894T>C (p.H298=), SDCCAG8(NM_006642.4):c.798T>C (p.H266=) - SDCCAG8_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.845_848delTTTG r.(?) p.(Cys283*) Parent #1 - pathogenic g.243471399_243471402del g.243308097_243308100del SDCCAG8/ c.845_848delTTTG, p.Cys283fs*1 - SDCCAG8_000061 heterozygous PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease J-50 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
+?/. 8 c.849_852del r.(?) p.(Cys283*) Both (homozygous) - likely pathogenic g.243471399_243471402del - c.845_848delTTTG - SDCCAG8_000061 - PubMed: Yamamura 2017 - - Germline - - - - - DNA SEQ-NG, PCR blood - retinal disease - PubMed: Yamamura 2017 - F no Japan Japanese - - - - 1 LOVD
+?/. 8 c.849_852del r.(?) p.(Cys283*) Both (homozygous) ACMG likely pathogenic g.243471399_243471402del g.243308097_243308100del c.845(exon8)_c.848(exon8)ins - SDCCAG8_000061 variant description corrected by authors (e-mail) PubMed: Tang 2022, Journal: Tang 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - WES NPHP 625 PubMed: Tang 2022, Journal: Tang 2022 - - - China - - - - - 1 Johan den Dunnen
-/. - c.912C>T r.(?) p.(Thr304=) Unknown - benign g.243471462C>T g.243308160C>T SDCCAG8(NM_006642.4):c.912C>T (p.T304=) - SDCCAG8_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.912C>T r.(=) p.(=) Parent #1 - likely benign g.243471462C>T g.243308160C>T - - SDCCAG8_000016 23 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs976529 Germline - 23/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 23 Mohammed Faruq
-?/. - c.925G>A r.(?) p.(Val309Ile) Unknown - likely benign g.243471475G>A g.243308173G>A SDCCAG8(NM_006642.3):c.925G>A (p.(Val309Ile)) - SDCCAG8_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.930-21A>G r.(=) p.(=) Unknown - benign g.243480036A>G g.243316734A>G SDCCAG8(NM_006642.5):c.930-21A>G - SDCCAG8_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.964G>A r.(?) p.(Val322Ile) Unknown - VUS g.243480091G>A g.243316789G>A SDCCAG8(NM_001350251.1):c.61G>A (p.V21I) - SDCCAG8_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.968G>A r.(?) p.(Arg323Lys) Unknown - pathogenic g.243480095G>A g.243316793G>A - - SDCCAG8_000052 - PubMed: Costa 2017 - - Germline - - - - - DNA SEQ-NG - 132-gene panel retinal disease Pat4 PubMed: Costa 2017 - F - Brazil - - - - - 1 LOVD
+?/. 9i c.1068+1G>A r.spl p.? Both (homozygous) - likely pathogenic g.243480196G>A g.243316894G>A SDCCAG8 c.1068+1G>A, obligatory splice site - SDCCAG8_000076 homozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 A2290 PubMed: Otto 2010 family A2290 - yes - Turkey - - - - 1 LOVD
?/. - c.1075T>G r.? p.? Both (homozygous) - VUS g.? - NM_006642.3:1075T>G (S359A) - NPHS2_000000 - PubMed: Maranha 2015, Journal: Maranhao 2015 - rs555521073 Germline - - - - - DNA SEQ - - retinal disease PKRD142;61142 PubMed: Maranha 2015, Journal: Maranhao 2015, PubMed: Li 2017 6-generation family, 11 affecteds (4F, 7M), unaffected heterozygous carrier parents/relatives F;M yes Pakistan - - - - - 11 Johan den Dunnen
-?/. - c.1094G>A r.(?) p.(Arg365Lys) Unknown - likely benign g.243493867G>A g.243330565G>A SDCCAG8(NM_001350251.1):c.191G>A (p.R64K), SDCCAG8(NM_006642.3):c.1094G>A (p.(Arg365Lys)), SDCCAG8(NM_006642.5):c.1094G>A (p.R365K) - SDCCAG8_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1094G>A r.(?) p.(Arg365Lys) Unknown - likely benign g.243493867G>A - SDCCAG8(NM_001350251.1):c.191G>A (p.R64K), SDCCAG8(NM_006642.3):c.1094G>A (p.(Arg365Lys)), SDCCAG8(NM_006642.5):c.1094G>A (p.R365K) - SDCCAG8_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1094G>A r.(?) p.(Arg365Lys) Unknown - likely benign g.243493867G>A - SDCCAG8(NM_001350251.1):c.191G>A (p.R64K), SDCCAG8(NM_006642.3):c.1094G>A (p.(Arg365Lys)), SDCCAG8(NM_006642.5):c.1094G>A (p.R365K) - SDCCAG8_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1120C>T r.(?) p.(Arg374*) Parent #1 - pathogenic g.243493893C>T g.243330591C>T - - SDCCAG8_000054 - PubMed: Carrigan 2016 - - Germline - - - - - DNA SEQ-NG - gene panel retinal disease - PubMed: Carrigan 2016 - - - Ireland - - - - - 1 LOVD
+?/. 10 c.1120C>T r.(?) p.(Arg374*) Both (homozygous) - likely pathogenic g.243493893C>T g.243330591C>T SDCCAG8 p.R374X, c.1120C>T - SDCCAG8_000054 homozygous PubMed: Schaefer 2011 - - Germline yes 0/192 ethnically-matched controls - - - DNA arraySNP, SEQ blood - BBS II.30 PubMed: Schaefer 2011 family II.30 F yes - Turkish - - - - 1 LOVD
-/. - c.1134A>T r.(?) p.(Glu378Asp) Unknown - benign g.243493907A>T g.243330605A>T SDCCAG8(NM_006642.4):c.1134A>T (p.E378D), SDCCAG8(NM_006642.5):c.1134A>T (p.E378D) - SDCCAG8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1134A>T r.(?) p.(Glu378Asp) Unknown - benign g.243493907A>T g.243330605A>T SDCCAG8(NM_006642.4):c.1134A>T (p.E378D), SDCCAG8(NM_006642.5):c.1134A>T (p.E378D) - SDCCAG8_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1221+2T>A r.spl p.? Both (homozygous) - pathogenic g.243493996T>A g.243330694T>A SDCCAG8 c.1221 + 2 T > A - SDCCAG8_000081 homozygous PubMed: Bahmanpour 2020 - - Germline yes - - - - DNA SEQ-NG, SEQ blood whole exome sequencing BBS II:2 PubMed: Bahmanpour 2020 proband M - Iran Iranian - - - - 1 LOVD
+/. - c.1221+2T>A r.spl p.? Both (homozygous) - pathogenic g.243493996T>A g.243330694T>A SDCCAG8 c.1221 + 2 T > A - SDCCAG8_000081 homozygous PubMed: Bahmanpour 2020 - - Germline yes - - - - DNA SEQ blood - BBS II:1 PubMed: Bahmanpour 2020 proband's sister F - Iran Iranian - - - - 1 LOVD
-?/. - c.1221+4C>G r.spl? p.? Unknown - likely benign g.243493998C>G g.243330696C>G SDCCAG8(NM_006642.4):c.1221+4C>G - SDCCAG8_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1287G>T r.(?) p.(Lys429Asn) Unknown - VUS g.243504406G>T g.243341104G>T SDCCAG8(NM_006642.5):c.1287G>T (p.K429N) - SDCCAG8_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1300delA r.(?) p.(Asn434Ilefs*28) Parent #2 - pathogenic g.243504420del g.243341118del NPHP10 c.1300delA, p.Asn434Ilefs*28 - SDCCAG8_000065 heterozygous PubMed: Kang 2016 - - Unknown ? - - - - DNA SEQ-NG-I - targeted exome sequencing: 34 genes related to NPHP-RC, Bardet-Biedl syndrome, ARPKD retinal disease J-50 PubMed: Kang 2016 - ? - Korea, South (Republic) - - - - - 1 LOVD
?/. - c.1324dup r.(?) p.(Gln442Profs*22) Unknown - VUS g.243504443dup g.243341141dup SDCCAG8 nucleotide 1, protein 1:c.740+356C>T, p.? nucleotide 2, protein 2:c.1324dupC, p.Gln442Profs*22 - SDCCAG8_000063 heterozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline yes - - - - DNA ? blood NGS gene panel investigation in 60 families, Sanger sequencing in 27 families, and Asper microarray in 25 families retinal disease 86 PubMed: Hull 2020 - ? - New Zealand white - - - - 1 LOVD
+?/. - c.1324dup r.(?) p.(Gln442Profs*22) Parent #2 - likely pathogenic g.243504443dup g.243341141dup SDCCAG8 c.1324dup, p.(Gln442Profs*22) - SDCCAG8_000063 heterozygous; zebrafish model injected with SNRNP200 c.C6088T mutant mRNA: high ratios of deformation and loss of photoreceptors; no mutation in the affected niece PubMed: Tay 2020 - - Germline yes - - - - DNA SEQ blood whole exome sequencing retinal disease ? PubMed: Tay 2020 - F - New Zealand Ashkenazi and Sephardic Jewish - - - - 1 LOVD
?/. - c.1337G>C r.(?) p.(Arg446Pro) Unknown - VUS g.243504456G>C g.243341154G>C SDCCAG8(NM_006642.5):c.1337G>C (p.R446P) - SDCCAG8_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.1339dup r.(?) p.(Glu447Glyfs*17) Both (homozygous) - likely pathogenic g.243504458dup g.243341156dup SDCCAG8 c.1339-1340insG, p.E447fsX463 - SDCCAG8_000077 homozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 SS-F336-21 PubMed: Otto 2010 family SS, individual F336, individual 21 - yes - Algeria - - - - 1 LOVD
+?/. 11 c.1339dup r.(?) p.(Glu447Glyfs*17) Both (homozygous) - likely pathogenic g.243504458dup g.243341156dup SDCCAG8 c.1339-1340insG, p.E447fsX463 - SDCCAG8_000077 homozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 SS-F336-22 PubMed: Otto 2010 family SS, individual F336, individual 22 - yes - Algeria - - - - 1 LOVD
-/. - c.1409A>G r.(?) p.(Glu470Gly) Unknown - benign g.243507569A>G g.243344267A>G SDCCAG8(NM_001350251.1):c.506A>G (p.E169G), SDCCAG8(NM_006642.5):c.1409A>G (p.E470G) - SDCCAG8_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1409A>G r.(?) p.(Glu470Gly) Unknown - VUS g.243507569A>G - SDCCAG8(NM_001350251.1):c.506A>G (p.E169G), SDCCAG8(NM_006642.5):c.1409A>G (p.E470G) - SDCCAG8_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1420del r.(?) p.(Glu474Serfs*20) Both (homozygous) ACMG pathogenic (recessive) g.243507580del g.243344278del 1420delG (Glu474fs*493) - SDCCAG8_000049 - PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - rs397515335 Germline - - - - - DNA SEQ-NG-I - gene panel PKD P24 PubMed: Al Alawi 2019, Journal: Al Alawi 2019 - F - Oman - - - - - 1 Intisar Al Alawi
+?/. 12 c.1420del r.(?) p.(Glu474Serfs*20) Both (homozygous) - likely pathogenic g.243507580del g.243344278del SDCCAG8 c.1420delG, p.E474fsX493 - SDCCAG8_000049 homozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 SS23/A1365-21 PubMed: Otto 2010 family SS23/A1365, individual 21 - yes - La Reunion - - - - 1 LOVD
+?/. 12 c.1420del r.(?) p.(Glu474Serfs*20) Both (homozygous) - likely pathogenic g.243507580del g.243344278del SDCCAG8 c.1420delG, p.E474fsX493 - SDCCAG8_000049 homozygous PubMed: Otto 2010 - - Germline yes 0/270 healthy control individuals - - - DNA arraySNP, SEQ-NG, SEQ - 829 nephronophthisis-related ciliopathies candidate genes SLSN7 SS23/A1365-22 PubMed: Otto 2010 family SS23/A1365, individual 22 - yes - La Reunion - - - - 1 LOVD
-?/. - c.1429G>C r.(?) p.(Glu477Gln) Unknown - likely benign g.243507589G>C g.243344287G>C SDCCAG8(NM_006642.5):c.1429G>C (p.E477Q) - SDCCAG8_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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