Unique variants in the HPS1 gene

Information The variants shown are described using the NM_000195.3 transcript reference sequence.

56 entries on 1 page. Showing entries 1 - 56.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. 1 - c.11T>C r.(?) p.(Val4Ala) - benign g.100202987A>G g.98443230A>G HPS1(NM_000195.5):c.11T>C (p.V4A) - HPS1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.16G>A r.(?) p.(Val6Met) - VUS g.100202982C>T g.98443225C>T HPS1(NM_000195.4):c.16G>A (p.V6M) - HPS1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 2 - c.27G>C r.(?) p.(Glu9Asp) - benign g.100202971C>G g.98443214C>G HPS1(NM_000195.4):c.27G>C (p.E9D) - HPS1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.59A>G r.(?) p.(Gln20Arg) - likely benign g.100202939T>C g.98443182T>C HPS1(NM_001322477.1):c.59A>G (p.Q20R) - HPS1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.90C>T r.(?) p.(Phe30=) - benign g.100202908G>A g.98443151G>A HPS1(NM_000195.4):c.90C>T (p.F30=) - HPS1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.260G>T r.(?) p.(Gly87Val) - VUS g.100195167C>A g.98435410C>A HPS1(NM_001322477.1):c.260G>T (p.G87V) - HPS1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.266G>A r.(?) p.(Cys89Tyr) - likely benign g.100195161C>T - HPS1(NM_001322477.1):c.266G>A (p.C89Y) - HPS1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.391C>T r.(?) p.(Arg131Ter) - pathogenic g.100195036G>A g.98435279G>A HPS1(NM_000195.4):c.391C>T (p.R131*) - HPS1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.478C>T r.(?) p.(Arg160Trp) - likely benign g.100193769G>A g.98434012G>A HPS1(NM_000195.4):c.478C>T (p.R160W) - HPS1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.507+13C>T r.(=) p.(=) - likely benign g.100193727G>A g.98433970G>A HPS1(NM_001322481.1):c.377C>T (p.A126V) - HPS1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.557C>T r.(?) p.(Ala186Val) - benign g.100190999G>A g.98431242G>A HPS1(NM_000195.4):c.557C>T (p.A186V) - HPS1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.558G>A r.(?) p.(Ala186=) - benign g.100190998C>T g.98431241C>T HPS1(NM_000195.4):c.558G>A (p.A186=) - HPS1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.571G>A r.(?) p.(Val191Ile) - likely benign g.100190985C>T - HPS1(NM_001322477.1):c.571G>A (p.V191I) - HPS1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.597C>T r.(?) p.(Pro199=) - benign g.100190959G>A g.98431202G>A HPS1(NM_001322477.1):c.597C>T (p.P199=) - HPS1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.681C>G r.(?) p.(Ser227Arg) - VUS g.100190415G>C g.98430658G>C HPS1(NM_000195.4):c.681C>G (p.S227R) - HPS1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.695C>T r.(?) p.(Ala232Val) - VUS g.100190401G>A - HPS1(NM_001322477.1):c.695C>T (p.A232V) - HPS1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.737C>T r.(?) p.(Pro246Leu) - VUS g.100190359G>A g.98430602G>A HPS1(NM_000195.4):c.737C>T (p.P246L) - HPS1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 1 - c.759C>T r.(?) p.(Asp253=) - benign g.100190337G>A g.98430580G>A HPS1(NM_000195.4):c.759C>T (p.D253=) - HPS1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 2 - c.778C>T r.(?) p.(Arg260Trp) - likely benign g.100189637G>A g.98429880G>A HPS1(NM_000195.3):c.778C>T (p.(Arg260Trp)), HPS1(NM_001322477.1):c.778C>T (p.R260W) - HPS1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-/., -?/. 3 - c.779G>A r.(?) p.(Arg260Gln) - benign, likely benign g.100189636C>T g.98429879C>T 1 more item - HPS1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht
?/. 1 - c.787C>T r.(?) p.(Arg263Trp) - VUS g.100189628G>A - HPS1(NM_001322477.1):c.787C>T (p.R263W) - HPS1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.807del r.(?) p.(Val270CysfsTer61) - pathogenic g.100189611del g.98429854del HPS1(NM_000195.4):c.807delC (p.V270Cfs*61) - HPS1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.847G>C r.(?) p.(Gly283Arg) - likely benign g.100189568C>G g.98429811C>G HPS1(NM_000195.4):c.847G>C (p.G283R) - HPS1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.848G>C r.(?) p.(Gly283Ala) - likely benign g.100189567C>G g.98429810C>G HPS1(NM_000195.3):c.848G>C (p.(Gly283Ala)) - HPS1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.865A>G r.(?) p.(Thr289Ala) - VUS g.100189550T>C g.98429793T>C HPS1(NM_000195.4):c.865A>G (p.T289A) - HPS1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.937+66C>G r.(=) p.(=) - VUS g.100189264G>C - HPS1(NM_001322490.1):c.885C>G (p.I295M) - HPS1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.937+102G>A r.(=) p.(=) - likely benign g.100189228C>T - HPS1(NM_001322490.1):c.921G>A (p.K307=) - HPS1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.961G>A r.(?) p.(Gly321Ser) - likely benign g.100186998C>T - HPS1(NM_001322477.1):c.961G>A (p.G321S) - HPS1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.972dup r.(?) p.(Met325HisfsTer128) - pathogenic g.100186994dup g.98427237dup HPS1(NM_000195.4):c.972dupC (p.M325Hfs*128) - HPS1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1029T>C r.(?) p.(Pro343=) - likely benign g.100185701A>G g.98425944A>G HPS1(NM_001322487.1):c.57T>C (p.P19=) - HPS1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1034_1035insCTGGGCCC r.(?) p.(Ser346TrpfsTer15) - pathogenic g.100185697_100185698insGCCCAGGG - HPS1(NM_001322487.1):c.62_63insCTGGGCCC (p.S22Wfs*15) - HPS1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.1189del r.(?) p.(Gln397SerfsTer2) - pathogenic g.100185446del g.98425689del HPS1(NM_000195.4):c.1189delC (p.Q397Sfs*2), HPS1(NM_001322487.1):c.217delC (p.Q73Sfs*2) - HPS1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.1383C>T r.(?) p.(Pro461=) - likely benign g.100184084G>A - HPS1(NM_001322487.1):c.411C>T (p.P137=) - HPS1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1384G>A r.(?) p.(Gly462Arg) - VUS g.100184083C>T g.98424326C>T HPS1(NM_001322487.1):c.412G>A (p.G138R) - HPS1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1472C>G r.(?) p.(Pro491Arg) - benign g.100183570G>C g.98423813G>C HPS1(NM_000195.5):c.1472C>G (p.P491R) - HPS1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.1532+5G>A r.spl? p.? - benign g.100183505C>T g.98423748C>T HPS1(NM_000195.4):c.1532+5G>A - HPS1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1533-5G>A r.spl? p.? - likely benign g.100183430C>T g.98423673C>T HPS1(NM_001322487.1):c.561-5G>A - HPS1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.1533-5G>C r.spl? p.? - benign, likely benign g.100183430C>G g.98423673C>G HPS1(NM_000195.4):c.1533-5G>C - HPS1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.1568T>A r.(?) p.(Val523Glu) - VUS g.100183390A>T - HPS1(NM_001322487.1):c.596T>A (p.V199E) - HPS1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1698G>A r.(?) p.(Ser566=) - likely benign g.100182171C>T g.98422414C>T HPS1(NM_000195.4):c.1698G>A (p.S566=) - HPS1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1718C>G r.(?) p.(Pro573Arg) - VUS g.100182151G>C g.98422394G>C HPS1(NM_000195.3):c.1718C>G (p.(Pro573Arg)) - HPS1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.1743+9T>C r.(=) p.(=) - benign g.100182117A>G g.98422360A>G HPS1(NM_000195.4):c.1743+9T>C - HPS1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.1744-8T>C r.(=) p.(=) - likely benign g.100179923A>G - HPS1(NM_001322487.1):c.772-8T>C - PYROXD2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1796C>T r.(?) p.(Thr599Met) - VUS g.100179863G>A g.98420106G>A HPS1(NM_001322487.1):c.824C>T (p.T275M) - PYROXD2_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.1808A>G r.(?) p.(Gln603Arg) - benign g.100179851T>C g.98420094T>C HPS1(NM_000195.5):c.1808A>G (p.Q603R) - HPS1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 3 - c.1888G>A r.(?) p.(Val630Ile) - likely benign, VUS g.100177984C>T g.98418227C>T HPS1(NM_000195.4):c.1888G>A (p.V630I), HPS1(NM_000195.5):c.1888G>A (p.V630I) - PYROXD2_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
?/. 1 - c.1889T>C r.(?) p.(Val630Ala) - VUS g.100177983A>G - HPS1(NM_001322487.1):c.917T>C (p.V306A) - PYROXD2_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.1928G>A r.(?) p.(Gly643Glu) - likely benign g.100177944C>T g.98418187C>T HPS1(NM_001322487.1):c.956G>A (p.G319E) - PYROXD2_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1932C>A r.(?) p.(Asp644Glu) - VUS g.100177940G>T - HPS1(NM_001322487.1):c.960C>A (p.D320E) - PYROXD2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1951C>T r.(?) p.(Arg651Cys) - VUS g.100177473G>A g.98417716G>A HPS1(NM_000195.4):c.1951C>T (p.R651C) - PYROXD2_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2037G>A r.(?) p.(Leu679=) - likely benign g.100177387C>T - HPS1(NM_001322487.1):c.1065G>A (p.L355=) - PYROXD2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.2065C>T r.(?) p.(Arg689Trp) - VUS g.100177359G>A g.98417602G>A - - HPS1_000036 1 homozygous; Clinindb (India), 24 heterozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs3830014 Germline - 1/2791 individuals, 24/2791 individuals - - - Mohammed Faruq
-?/. 1 - c.2066G>A r.(?) p.(Arg689Gln) - likely benign g.100177358C>T g.98417601C>T HPS1(NM_001322487.1):c.1094G>A (p.R365Q) - PYROXD2_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2068C>T r.(?) p.(Arg690Cys) - likely benign g.100177356G>A g.98417599G>A HPS1(NM_000195.4):c.2068C>T (p.R690C) - PYROXD2_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2087G>A r.(?) p.(Arg696His) - VUS g.100177337C>T g.98417580C>T HPS1(NM_001322487.1):c.1115G>A (p.R372H) - PYROXD2_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.*12C>T r.(=) p.(=) - likely benign g.100177309G>A g.98417552G>A HPS1(NM_000195.4):c.*12C>T, HPS1(NM_000195.5):c.*12C>T - HPS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
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This database is one of the ”Eye disease” gene variant databases