All variants in the HPS4 gene

Information The variants shown are described using the NM_022081.5 transcript reference sequence.

57 entries on 1 page. Showing entries 1 - 57.
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Effect     

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     
+/. 3 c.57del r.(?) p.(Leu20PhefsTer7) - pathogenic g.26875312del g.26479346del - - HPS4_000003 unknown variant 2nd chromosome PubMed: Suzuki 2002, OMIM:var0003 - - Unknown - - - 0 - William (Bill) Oetting
-/. - c.123T>C r.(?) p.(Tyr41=) - benign g.26875240A>G g.26479274A>G HPS4(NM_022081.5):c.123T>C (p.Y41=) - HPS4_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-/. - c.250A>G r.(?) p.(Ile84Val) - benign g.26872985T>C g.26477019T>C HPS4(NM_022081.5):c.250A>G (p.I84V) - HPS4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.250A>G r.(?) p.(Ile84Val) - likely benign g.26872985T>C g.26477019T>C HPS4(NM_022081.5):c.250A>G (p.I84V) - HPS4_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.266A>T r.(?) p.(Asp89Val) - VUS g.26872969T>A g.26477003T>A HPS4(NM_001349898.1):c.266A>T (p.D89V) - HPS4_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 6 c.412G>T r.(?) p.(Gln138*) - pathogenic g.26868357C>A g.26472391C>A - - HPS4_000007 - PubMed: Anderson 2003, OMIM:var0007 - - Unknown - - - 0 - William (Bill) Oetting
?/. - c.445A>G r.(?) p.(Asn149Asp) - VUS g.26868324T>C g.26472358T>C HPS4(NM_022081.5):c.445A>G (p.N149D) - HPS4_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 6 c.461A>G r.(?) p.(His154Arg) - pathogenic g.26868308T>C g.26472342T>C - - HPS4_000010 - PubMed: Anderson 2003 - - Unknown - - - 0 - William (Bill) Oetting
?/. - c.532C>T r.(?) p.(Arg178Cys) - VUS g.26866749G>A g.26470783G>A HPS4(NM_022081.5):c.532C>T (p.R178C) - HPS4_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
+/. 7 c.541C>T r.(?) p.(Gln181*) - pathogenic g.26866740G>A g.26470774G>A - - HPS4_000004 - PubMed: Suzuki 2002, OMIM:var0004 - - Unknown - - - 0 - William (Bill) Oetting
+/. 7 c.541C>T r.(?) p.(Gln181*) - pathogenic g.26866740G>A g.26470774G>A - - HPS4_000004 - PubMed: Suzuki 2002, OMIM:var0004 - - Unknown - - - 0 - William (Bill) Oetting
?/. - c.605G>T r.(?) p.(Ser202Ile) - VUS g.26864581C>A - HPS4(NM_001349898.1):c.605G>T (p.S202I) - HPS4_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 8 c.649C>T r.(?) p.(Arg217*) - pathogenic g.26864537G>A g.26468571G>A - - HPS4_000009 - PubMed: Anderson 2003, OMIM:var0006 - - Unknown - - - 0 - William (Bill) Oetting
+/. - c.649C>T r.(?) p.(Arg217Ter) - pathogenic g.26864537G>A g.26468571G>A HPS4(NM_022081.5):c.649C>T (p.R217*) - HPS4_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. 8 c.664G>T r.(?) p.(Glu222*) - VUS g.26864522C>A g.26468556C>A - - HPS4_000008 - PubMed: Anderson 2003, OMIM:var0008 - - Unknown - - - 0 - William (Bill) Oetting
-/. - c.686A>G r.(?) p.(Glu229Gly) - benign g.26862212T>C g.26466246T>C HPS4(NM_022081.5):c.686A>G (p.E229G) - HPS4_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
+/. 9i c.706+151C>T r.(?) p.(=) - pathogenic g.26862041G>A g.26466075G>A - - HPS4_000005 reported as nonsense variant, located in intron (potential exon) PubMed: Yngvadottir 2009 - rs3747129 Unknown - - - 0 - William (Bill) Oetting
-/. - c.710C>T r.(?) p.(Ala237Val) - benign g.26861514G>A g.26465548G>A HPS4(NM_022081.5):c.710C>T (p.A237V) - HPS4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.710C>T r.(?) p.(Ala237Val) - likely benign g.26861514G>A g.26465548G>A HPS4(NM_022081.5):c.710C>T (p.A237V) - HPS4_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
-/. - c.741T>A r.(?) p.(Pro247=) - benign g.26861483A>T g.26465517A>T HPS4(NM_022081.5):c.741T>A (p.P247=) - HPS4_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.751A>T r.(?) p.(Thr251Ser) - likely benign g.26861473T>A g.26465507T>A HPS4(NM_022081.5):c.751A>T (p.T251S) - HPS4_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Utrecht
+/. - c.839C>G r.(?) p.(Ser280Ter) - pathogenic g.26860757G>C g.26464791G>C HPS4(NM_022081.5):c.839C>G (p.S280*) - HPS4_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.860G>C r.(?) p.(Gly287Ala) - likely benign g.26860736C>G g.26464770C>G HPS4(NM_022081.5):c.860G>C (p.G287A) - HPS4_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 11 c.(949_972dup) r.(?) p.(Ala316_Glu323dup) - pathogenic g.26860624_26860647dup g.26464658_26464681dup dup24 - HPS4_000005 unknown variant 2nd chromosome PubMed: Suzuki 2002, OMIM:var0005 - - Unknown - - - 0 - William (Bill) Oetting
-?/. - c.1011G>A r.(?) p.(Arg337=) - likely benign g.26860585C>T - HPS4(NM_001349898.1):c.1011G>A (p.R337=) - HPS4_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1029C>T r.(?) p.(Asn343=) - benign g.26860567G>A g.26464601G>A HPS4(NM_022081.5):c.1029C>T (p.N343=) - HPS4_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1177C>T r.(?) p.(Pro393Ser) - likely benign g.26860419G>A g.26464453G>A HPS4(NM_022081.5):c.1177C>T (p.P393S) - HPS4_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1327C>G r.(?) p.(Leu443Val) - benign g.26860269G>C g.26464303G>C HPS4(NM_022081.5):c.1327C>G (p.L443V) - HPS4_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1356A>C r.(?) p.(Gln452His) - benign g.26860240T>G g.26464274T>G HPS4(NM_022081.5):c.1356A>C (p.Q452H) - HPS4_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. - c.1396C>T r.(?) p.(Arg466Cys) - likely benign g.26860200G>A g.26464234G>A HPS4(NM_001349898.1):c.1396C>T (p.R466C), HPS4(NM_022081.5):c.1396C>T (p.R466C) - HPS4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.1396C>T r.(?) p.(Arg466Cys) - VUS g.26860200G>A - HPS4(NM_001349898.1):c.1396C>T (p.R466C), HPS4(NM_022081.5):c.1396C>T (p.R466C) - HPS4_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1397G>A r.(?) p.(Arg466His) - VUS g.26860199C>T g.26464233C>T HPS4(NM_022081.5):c.1397G>A (p.R466H) - HPS4_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.1516C>G r.(?) p.(Leu506Val) - VUS g.26860080G>C g.26464114G>C HPS4(NM_022081.5):c.1516C>G (p.L506V) - HPS4_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
?/. - c.1527T>G r.(?) p.(Ser509Arg) - VUS g.26860069A>C g.26464103A>C HPS4(NM_022081.5):c.1527T>G (p.S509R) - HPS4_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1543T>C r.(?) p.(Cys515Arg) - likely benign g.26860053A>G - HPS4(NM_001349898.1):c.1543T>C (p.C515R) - HPS4_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1645A>G r.(?) p.(Lys549Glu) - likely benign g.26859951T>C g.26463985T>C HPS4(NM_022081.5):c.1645A>G (p.K549E) - HPS4_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1654G>A r.(?) p.(Val552Met) - benign g.26859942C>T g.26463976C>T HPS4(NM_022081.5):c.1654G>A (p.V552M) - HPS4_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. - c.1816C>T r.(?) p.(His606Tyr) - benign g.26854441G>A g.26458475G>A HPS4(NM_022081.5):c.1816C>T (p.H606Y) - HPS4_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
?/. - c.1871C>T r.(?) p.(Pro624Leu) - VUS g.26853909G>A - HPS4(NM_001349898.1):c.1871C>T (p.P624L) - HPS4_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. - c.1875G>T r.(?) p.(Gln625His) - benign g.26853905C>A g.26457939C>A HPS4(NM_022081.5):c.1875G>T (p.Q625H) - HPS4_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Groningen
-/. - c.1883G>A r.(?) p.(Arg628His) - benign g.26853897C>T g.26457931C>T HPS4(NM_022081.5):c.1883G>A (p.R628H) - HPS4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1883G>A r.(?) p.(Arg628His) - likely benign g.26853897C>T g.26457931C>T HPS4(NM_022081.5):c.1883G>A (p.R628H) - HPS4_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Rotterdam
-?/. - c.1888C>T r.(?) p.(Leu630Phe) - likely benign g.26853892G>A g.26457926G>A HPS4(NM_022081.5):c.1888C>T (p.L630F) - HPS4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
+/. 13 c.1891C>T r.(?) p.(Gln631*) - pathogenic g.26853889G>A g.26457923G>A - - HPS4_000002 - PubMed: Suzuki 2002, OMIM:var0001 - - Unknown - - - 0 - William (Bill) Oetting
+/. 13 c.1891C>T r.(?) p.(Gln631*) - pathogenic g.26853889G>A g.26457923G>A - - HPS4_000002 - PubMed: Suzuki 2002, OMIM:var0001 - - Unknown - - - 0 - William (Bill) Oetting
?/. - c.1954A>G r.(?) p.(Arg652Gly) - VUS g.26853826T>C g.26457860T>C HPS4(NM_022081.5):c.1954A>G (p.R652G) - HPS4_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. - c.1955+18G>A r.(=) p.(=) - benign g.26853807C>T g.26457841C>T HPS4(NM_022081.5):c.1955+18G>A - HPS4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_AMC
-?/. - c.1959T>C r.(?) p.(Asn653=) - likely benign g.26849367A>G g.26453401A>G HPS4(NM_001349903.1):c.1717T>C (p.C573R), HPS4(NM_022081.5):c.1959T>C (p.N653=) - HPS4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. - c.1959T>C r.(?) p.(Asn653=) - VUS g.26849367A>G - HPS4(NM_001349903.1):c.1717T>C (p.C573R), HPS4(NM_022081.5):c.1959T>C (p.N653=) - HPS4_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1966A>T r.(?) p.(Thr656Ser) - likely benign g.26849360T>A g.26453394T>A HPS4(NM_022081.5):c.1966A>T (p.T656S) - HPS4_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1993A>T r.(?) p.(Ile665Phe) - likely benign g.26849333T>A g.26453367T>A HPS4(NM_022081.5):c.1993A>T (p.I665F) - HPS4_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2004A>G r.(?) p.(Thr668=) - VUS g.26849322T>C - HPS4(NM_001349903.1):c.1762A>G (p.I588V) - HPS4_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 14 c.2054del r.(?) p.(Pro685LeufsTer17) - pathogenic g.26849274del g.26453308del - - HPS4_000006 - PubMed: Bachli 2004, OMIM:var0009 - - Unknown - - - 0 - William (Bill) Oetting
?/. 14 c.2054del r.(?) p.(Pro685LeufsTer17) - VUS g.26849274del g.26453308del - - HPS4_000006 - PubMed: Bachli 2004, OMIM:var0009 - - Unknown - - - 0 - William (Bill) Oetting
-?/. - c.2079C>T r.(?) p.(Ser693=) - likely benign g.26849247G>A g.26453281G>A HPS4(NM_022081.5):c.2079C>T (p.S693=) - HPS4_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 14 c.2089_2093dup r.(?) p.(fs*) - pathogenic g.26849241_26849245dup g.26453275_26453279dup 2089_2093dupAAGCA - HPS4_000001 - PubMed: Suzuki 2002, OMIM:var0002 - - Unknown - - - 0 - William (Bill) Oetting
+/. 14 c.2089_2093dup r.(?) p.(fs*) - pathogenic g.26849241_26849245dup g.26453275_26453279dup 2089_2093dupAAGCA - HPS4_000001 - PubMed: Suzuki 2002, OMIM:var0002 - - Unknown - - - 0 - William (Bill) Oetting
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