Unique variants in gene PDE6B

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000283.3 transcript reference sequence.

145 entries on 2 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     

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     

Owner     
./. 1 - c.-547864_*2711741del - r.0? p.0? g.71552_3375637del - - - IDUA_000000 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - Johan den Dunnen
+?/. 1 1 c.3G>T - r.(?) p.(M1?) g.619418G>T g.625629G>T - - PDE6B_000011 1 more item PubMed: Neveling 2012 - - Germline - - - - - Kornelia Neveling
-?/. 1 - c.23C>T likely benign r.(?) p.(Ala8Val) g.619438C>T - PDE6B(NM_000283.3):c.23C>T (p.A8V) - PDE6B_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.26G>A benign r.(?) p.(Arg9Gln) g.619441G>A - PDE6B(NM_000283.3):c.26G>A (p.R9Q) - PDE6B_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.101C>T benign r.(?) p.(Ala34Val) g.619516C>T - PDE6B(NM_000283.3):c.101C>T (p.A34V) - PDE6B_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.120_121insGAGGA pathogenic r.(?) p.(Pro41Glufs*111) g.619535_619536insGAGGA - PDE6B(NM_000283.3):c.120_121insGAGGA (p.P41Efs*111) - PDE6B_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.122C>G pathogenic r.(?) p.(Pro41Arg) g.619537C>G - PDE6B(NM_000283.3):c.122C>G (p.P41R) - PDE6B_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.125_126insTGCGA pathogenic r.(?) p.(Asp43Alafs*109) g.619540_619541insTGCGA - PDE6B(NM_000283.3):c.125_126insTGCGA (p.D43Afs*109) - PDE6B_000120 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.132C>G benign r.(?) p.(Cys44Trp) g.619547C>G - PDE6B(NM_000283.3):c.132C>G (p.C44W) - PDE6B_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.133G>A benign r.(?) p.(Asp45Asn) g.619548G>A - - - PDE6B_000074 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs138423108 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/. 2 - c.145G>T benign r.(?) p.(Asp49Tyr) g.619560G>T - - - PDE6B_000075 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs79826315 Germline - 3/1204 cases with retinitis pigmentosa, 47/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.220C>T VUS r.(?) p.(Arg74Cys) g.619635C>T - PDE6B(NM_000283.3):c.220C>T (p.Arg74Cys) - PDE6B_000121 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.221G>T VUS r.(?) p.(Arg74Leu) g.619636G>T - - - PDE6B_000076 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 2 - c.245G>A VUS r.(?) p.(Arg82His) g.619660G>A - PDE6B(NM_000283.3):c.245G>A (p.R82H) - PDE6B_000029 VKGL data sharing initiative Nederland PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs757048461 Germline, CLASSIFICATION record - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi, VKGL-NL
-/. 2 - c.270C>T benign r.(?) p.(=) g.619685C>T - PDE6B(NM_000283.3):c.270C>T (p.=) - PDE6B_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.293G>C VUS r.(?) p.(Arg98Pro) g.619708G>C - PDE6B(NM_000283.3):c.293G>C (p.R98P) - PDE6B_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.298C>T VUS r.(?) p.(Arg100Cys) g.619713C>T - PDE6B(NM_000283.3):c.298C>T (p.R100C) - PDE6B_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/., +/. 2 1 c.299G>A likely pathogenic r.(?) p.(Arg100His) g.619714G>A g.625925G>A PDE6B(NM_000283.3):c.299G>A (p.Arg100His) - PDE6B_000010 VKGL data sharing initiative Nederland PubMed: Neveling 2012 - - CLASSIFICATION record, Germline - - - - - VKGL-NL, Kornelia Neveling
?/. 1 - c.307G>A VUS r.(?) p.(Val103Met) g.619722G>A - - - PDE6B_000077 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs751477149 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.362A>G VUS r.(?) p.(Asp121Gly) g.619777A>G - PDE6B(NM_000283.3):c.362A>G (p.D121G) - PDE6B_000124 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.379G>A VUS r.(?) p.(Asp127Asn) g.619794G>A - - - PDE6B_000078 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs766141814 Germline - 4/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. 1 - c.427del pathogenic r.(?) p.(Ala143Leufs*7) g.619842del - PDE6B:NM_000283.3:c.427del (Ala143fs) - PDE6B_000048 VKGL data sharing initiative Nederland; correct HGVS to be checked - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 1 c.428C>A - r.(?) p.(Ala143Asp) g.619843C>A - - - PDE6B_000067 - Sharon, submitted - - Germline - - - - - Dror Sharon
?/. 1 - c.454G>C VUS r.(?) p.(Glu152Gln) g.619869G>C - - - PDE6B_000079 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.480C>G VUS r.(?) p.(Phe160Leu) g.628477C>G - - - PDE6B_000080 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.485C>T VUS r.(?) p.(Ser162Leu) g.628482C>T - - - PDE6B_000081 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs772012465 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/., -?/. 3 2 c.496G>A benign, likely benign r.(?) p.(Glu166Lys) g.628493G>A g.634704G>A PDE6B(NM_000283.3):c.496G>A (p.E166K) - PDE6B_000012 VKGL data sharing initiative Nederland, predicted benign PubMed: Koyanagi 2019, Journal: Koyanagi 2019, PubMed: Neveling 2012 - rs115775983 Germline, CLASSIFICATION record no 2/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi, VKGL-NL, Kornelia Neveling
?/. 1 - c.556G>A VUS r.(?) p.(Val186Ile) g.628553G>A - - - PDE6B_000082 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs779085612 Germline - 3/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 1 - c.582C>T likely benign r.(?) p.(=) g.628579C>T - PDE6B(NM_000283.3):c.582C>T (p.N194=) - PDE6B_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.583A>T pathogenic r.(?) p.(Lys195*) g.628580A>T - PDE6B(NM_000283.3):c.583A>T (p.Lys195*) - PDE6B_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.592G>A VUS r.(?) p.(Gly198Ser) g.628589G>A - - - PDE6B_000083 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs199690401 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/., -/. 2 - c.615C>T likely benign, benign r.(?) p.(=) g.628612C>T - PDE6B(NM_000283.3):c.615C>T (p.=) - PDE6B_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.650C>G VUS r.(?) p.(Thr217Arg) g.629697C>G - - - PDE6B_000084 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/., -/. 5 3 c.655T>C likely benign r.(?) p.(Tyr219His) g.629702T>C g.635913T>C PDE6B(NM_000283.3):c.655T>C (p.Y219H) - PDE6B_000013 VKGL data sharing initiative Nederland, predicted benign, 1 more item PubMed: Neveling 2012 - - CLASSIFICATION record, Germline no, yes - - - - VKGL-NL, Kornelia Neveling
-?/. 1 - c.711+10C>T likely benign r.(=) p.(=) g.629768C>T - PDE6B(NM_000283.3):c.711+10C>T - PDE6B_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 4 c.772C>A pathogenic (dominant) r.(?) p.(His258Asn) g.647701C>A - - - PDE6B_000116 - PubMed: Gal 1994 - rs121918582 Germline yes - - - - Johan den Dunnen
?/. 1 - c.785A>G VUS r.(?) p.(Tyr262Cys) g.647714A>G - - - PDE6B_000085 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. 1 - c.786C>G pathogenic r.(?) p.(Tyr262*) g.647715C>G - - - PDE6B_000086 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.787A>G VUS r.(?) p.(Thr263Ala) g.647716A>G - PDE6B(NM_000283.3):c.787A>G (p.T263A) - PDE6B_000125 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 3 - c.794G>A VUS r.(?) p.(Arg265Gln) g.647723G>A - PDE6B(NM_000283.3):c.794G>A (p.Arg265Gln) - PDE6B_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_Rotterdam, VKGL-NL_AMC
+?/. 1 4 c.801C>A - r.(?) p.(Tyr267*) g.647730C>A g.653941C>A - - PDE6B_000014 predicted to affect function, but insufficient evidence for definite conclusion PubMed: Neveling 2012 - - Germline no - - - - Kornelia Neveling
-?/. 1 - c.804C>T likely benign r.(?) p.(=) g.647733C>T - PDE6B(NM_000283.3):c.804C>T (p.L268=) - PDE6B_000126 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.810C>A pathogenic r.(?) p.(Cys270*) g.647739C>A - PDE6B(NM_000283.3):c.810C>A (p.Cys270*) - PDE6B_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.811G>A pathogenic r.(?) p.(Glu271Lys) g.647740G>A - - - PDE6B_000087 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs374156343 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.815G>A VUS r.(?) p.(Arg272Gln) g.647744G>A - - - PDE6B_000088 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs760089278 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. 1 - c.837del pathogenic r.(?) p.(Asp279Glufs*2) g.647766del - PDE6B(NM_000283.3):c.837delC (p.D279Efs*2) - PDE6B_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.852+11C>T benign r.(=) p.(=) g.647792C>T - PDE6B(NM_000283.3):c.852+11C>T - PDE6B_000127 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.852+12G>A likely benign r.(=) p.(=) g.647793G>A - PDE6B(NM_000283.3):c.852+12G>A - PDE6B_000128 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.873T>C benign r.(?) p.(=) g.647889T>C - PDE6B(NM_000283.3):c.873T>C (p.=) - PDE6B_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 4 5 c.892C>T pathogenic r.(?) p.(Gln298*) g.647908C>T g.654119C>T PDE6B(NM_000283.3):c.892C>T (p.(Gln298*)) - PDE6B_000015 VKGL data sharing initiative Nederland PubMed: Neveling 2012 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC, Kornelia Neveling
-?/. 1 - c.896C>T likely benign r.(?) p.(Pro299Leu) g.647912C>T - PDE6B(NM_000283.3):c.896C>T (p.(Pro299Leu), p.(Pro20Leu)) - PDE6B_000129 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.927+1G>C likely pathogenic r.spl? p.? g.647944G>C - PDE6B(NM_000283.3):c.927+1G>C - PDE6B_000130 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/., +?/. 2 5i_6, 5i c.928-9_940dup pathogenic (dominant), ACMG: 5 r.spl, r.spl? p.(Tyr314Cysfs*50), p.? g.648604_648625dup g.654815_654836dup 940_941insGCTTCTCAGGAAATTGTCTTCT - PDE6B_000023 variant present in unaffected paternal grandmother, father and sister PubMed: Manes 2014, PubMed: de Castro-Miró 2016 - - Germline yes, no - - - - Johan den Dunnen, Marta de Castro-Miró
-/. 1 - c.958G>A benign r.(?) p.(Val320Ile) g.648643G>A - PDE6B(NM_000283.3):c.958G>A (p.V320I) - PDE6B_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.967G>A VUS r.(?) p.(Gly323Ser) g.648652G>A - - - PDE6B_000089 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs140224236 Germline - 15/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 1 - c.993-17C>T likely benign r.(=) p.(=) g.649712C>T - PDE6B(NM_000283.3):c.993-17C>T - PDE6B_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1041C>T benign r.(?) p.(=) g.649777C>T - PDE6B(NM_000283.3):c.1041C>T (p.=) - PDE6B_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1041dup pathogenic r.(?) p.(Val348Argfs*9) g.649777dup - PDE6B(NM_000283.3):c.1041dupC (p.V348Rfs*9) - PDE6B_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 - c.1041_1042dup pathogenic r.(?) p.(Val348Alafs*12) g.649777_649778dup - PDE6B:NM_000283.3:c.1041_1042dup (Val348fs), PDE6B(NM_000283.3):c.1041_1042dupCG (p.V348Afs*12) - PDE6B_000053 VKGL data sharing initiative Nederland; correct HGVS to be checked, 1 more item - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL
+/. 1 7 c.1043_1044insCG - r.(?) p.(Ala349Glyfs*11) g.649779_649780insCG g.655990_655991insCG - - PDE6B_000001 - PubMed: Neveling 2012 - - Germline - - - - - Kornelia Neveling
-?/. 1 - c.1059+9C>G likely benign r.(=) p.(=) g.649804C>G - PDE6B(NM_000283.3):c.1059+9C>G - PDE6B_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/., -/. 3 6i c.1060-13G>A benign r.(spl?), r.(=) p.(?), p.(=) g.650021G>A g.656232G>A PDE6B(NM_000283.3):c.1060-13G>A - PDE6B_000002 VKGL data sharing initiative Nederland, 1 more item PubMed: Neveling 2012 - - Germline, CLASSIFICATION record no - - - - Kornelia Neveling, VKGL-NL
?/. 1 - c.1066A>G VUS r.(?) p.(Asn356Asp) g.650040A>G - - - PDE6B_000090 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 1 - c.1083C>T likely benign r.(?) p.(=) g.650057C>T - PDE6B(NM_000283.3):c.1083C>T (p.S361=) - PDE6B_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/., +/. 5 8i c.1107+3A>G likely pathogenic r.spl?, r.(spl?) p.?, p.(?) g.650084A>G g.656295A>G PDE6B(NM_000283.3):c.1107+3A>G (r.(spl)) - PDE6B_000003 VKGL data sharing initiative Nederland, 1 more item PubMed: Neveling 2012 - - CLASSIFICATION record, Germline yes - - - - VKGL-NL_AMC, VKGL-NL_Nijmegen, Kornelia Neveling
?/. 1 - c.1108-3C>A VUS r.spl? p.? g.650660C>A - PDE6B(NM_000283.3):c.1108-3C>A - PDE6B_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 9 c.1160C>T - r.(?) p.(Pro387Leu) g.650715C>T g.656926C>T - - PDE6B_000021 - - - - Germline yes - - - f3h@helix.nih.gov James Hejtmancik
+?/. 1 9 c.1189G>A - r.(?) p.(Gly397Arg) g.650744G>A g.656955G>A - - PDE6B_000016 - - - - Unknown - - - - - Marcel Nelen
?/. 1 - c.1195G>A VUS r.(?) p.(Ala399Thr) g.650750G>A - PDE6B(NM_000283.3):c.1195G>A (p.A399T) - PDE6B_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 - c.1207_1208del pathogenic r.(?) p.(Asn403Glnfs*8) g.650762_650763del - PDE6B(NM_000283.3):c.1207_1208delAA (p.N403Qfs*8) - PDE6B_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1210A>G VUS r.(?) p.(Arg404Gly) g.650765A>G - PDE6B(NM_000283.3):c.1210A>G (p.R404G) - PDE6B_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1218C>T likely benign r.(?) p.(=) g.650773C>T - PDE6B(NM_000283.3):c.1218C>T (p.=) - PDE6B_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 1 9 c.1237C>T - r.(?) p.(Gln413*) g.650792C>T g.657003C>T - - PDE6B_000018 - - - - Unknown - - - - - Feng Wang
?/. 1 - c.1242C>G VUS r.(?) p.(Asp414Glu) g.650797C>G - - - PDE6B_000091 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs181236974 Germline - 1/1204 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.1253T>C VUS r.(?) p.(Met418Thr) g.650808T>C - PDE6B(NM_000283.3):c.1253T>C (p.M418T) - PDE6B_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1257+19G>A likely benign r.(=) p.(=) g.650831G>A - PDE6B(NM_000283.3):c.1257+19G>A - PDE6B_000136 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1268A>C VUS r.(?) p.(Gln423Pro) g.651150A>C - - - PDE6B_000092 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1187 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-?/. 1 - c.1296C>T likely benign r.(?) p.(=) g.651178C>T - PDE6B(NM_000283.3):c.1296C>T (p.T432=) - PDE6B_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1297G>A VUS r.(?) p.(Asp433Asn) g.651179G>A - PDE6B(NM_000283.3):c.1297G>A (p.Asp433Asn) - PDE6B_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 2 - c.1317C>G VUS r.(?) p.(Asn439Lys) g.651199C>G g.657410C>G PDE6B(NM_000283.3):c.1317C>G (p.N439K) - PDE6B_000020 VKGL data sharing initiative Nederland PubMed: Glockle 2013 - - Germline, CLASSIFICATION record - - - - - Muhammad Ajmal, VKGL-NL
?/. 1 - c.1342G>A VUS r.(?) p.(Ala448Thr) g.651224G>A - - - PDE6B_000093 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs779139841 Germline - 2/1189 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.1351A>G VUS r.(?) p.(Met451Val) g.651233A>G - - - PDE6B_000094 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs375564041 Germline - 2/1189 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 10i c.1401+4C>T - r.(spl?) p.(?) g.651287C>T g.657498C>T - - PDE6B_000005 - PubMed: Neveling 2012 - - Germline yes - - - - Kornelia Neveling
?/. 1 10i c.1401+4_1401+16delinsTGGCAGGGGCAGGT - r.(spl?) p.(?) g.651287_651299delinsTGGCAGGGGCAGGT g.657498_657510delinsTGGCAGGGGCAGGT 1401+4_1401+16delins14 - PDE6B_000004 - PubMed: Neveling 2012 - - Germline yes - - - - Kornelia Neveling
?/., -/. 3 - c.1401+4_1401+48del VUS, benign r.spl? p.? g.651287_651331del - PDE6B(NM_000283.3):c.1401+1_1401+45del (p.?) - PDE6B_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.1412C>T likely benign r.(?) p.(Ala471Val) g.652751C>T - PDE6B(NM_000283.3):c.1412C>T (p.A471V) - PDE6B_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-?/. 1 - c.1414C>T likely benign r.(?) p.(Arg472Cys) g.652753C>T - PDE6B(NM_000283.3):c.1414C>T (p.R472C) - PDE6B_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1426G>A VUS r.(?) p.(Glu476Lys) g.652765G>A - PDE6B(NM_000283.3):c.1426G>A (p.E476K) - PDE6B_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1450G>A VUS r.(?) p.(Glu484Lys) g.652789G>A - PDE6B(NM_000283.3):c.1450G>A (p.(Glu484Lys), p.(Glu205Lys)) - PDE6B_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1454T>C VUS r.(?) p.(Leu485Pro) g.652793T>C - - - PDE6B_000095 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1203 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/. 1 - c.1467+18G>A benign r.(=) p.(=) g.652824G>A - PDE6B(NM_000283.3):c.1467+18G>A - PDE6B_000139 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+?/. 1 - c.1468-1G>A likely pathogenic r.spl? p.? g.654255G>A - PDE6B(NM_000283.3):c.1468-1G>A - PDE6B_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
?/. 1 - c.1541T>C VUS r.(?) p.(Leu514Pro) g.654329T>C - - - PDE6B_000096 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1200 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.1569G>T VUS r.(?) p.(Met523Ile) g.654357G>T - - - PDE6B_000097 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - - Germline - 1/1200 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. 1 - c.1576G>A pathogenic r.(?) p.(Glu526Lys) g.654364G>A - - - PDE6B_000098 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236091 Germline - 1/1200 cases with retinitis pigmentosa - - - Yoshito Koyanagi
-/. 1 - c.1584C>T benign r.(?) p.(=) g.654372C>T - PDE6B(NM_000283.3):c.1584C>T (p.=) - PDE6B_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
-/. 1 - c.1590C>T benign r.(?) p.(=) g.654378C>T - PDE6B(NM_000283.3):c.1590C>T (p.=) - PDE6B_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
+/. 2 - c.1604T>A pathogenic r.(?) p.(Ile535Asn) g.654392T>A - - - PDE6B_000099 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs527236088 Germline - 7/1200 cases with retinitis pigmentosa - - - Yoshito Koyanagi
?/. 1 - c.1606C>T VUS r.(?) p.(Pro536Ser) g.654394C>T - - - PDE6B_000100 - PubMed: Koyanagi 2019, Journal: Koyanagi 2019 - rs568331063 Germline - 3/1200 cases with retinitis pigmentosa - - - Yoshito Koyanagi
+/. 1 - c.1643del pathogenic r.(?) p.(Ser548Thrfs*27) g.655951del - PDE6B(NM_000283.3):c.1643delG (p.S548Tfs*27) - PDE6B_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL
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