Unique variants in the HPS3 gene

Information The variants shown are described using the NM_032383.3 transcript reference sequence.

113 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

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     
+/+ 7 1_1i c.-2993_217+690del r.0 p.0 - pathogenic g.148844518_148848417del g.149126731_149130630del del ex1 - HPS3_000001 deletion 3904 bp, deletion 3904 bp; unknown variant 2nd chromosome PubMed: Anikster 2001, OMIM:var0001, PubMed: Huizing 2001, OMIM:var0001 - - Germline yes - - - - William (Bill) Oetting
-?/. 1 - c.204C>T r.(?) p.(Ala68=) - likely benign g.148847714C>T g.149129927C>T HPS3(NM_032383.4):c.204C>T (p.A68=) - CP_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.217+19C>G r.(=) p.(=) - benign g.148847746C>G g.149129959C>G HPS3(NM_032383.4):c.217+19C>G - HPS3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.399G>A r.(?) p.(Ser133=) - VUS g.148857972G>A g.149140185G>A HPS3(NM_032383.4):c.399G>A (p.S133=) - HPS3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.486G>A r.(?) p.(Lys162=) - likely benign g.148858059G>A - HPS3(NM_032383.4):c.486G>A (p.K162=) - CP_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.772C>T r.(?) p.(Leu258=) - likely benign g.148858863C>T g.149141076C>T HPS3(NM_032383.4):c.772C>T (p.L258=) - CP_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.884+25del r.(=) p.(=) - benign, likely benign g.148859000del g.149141213del HPS3(NM_032383.4):c.884+25delT, HPS3(NM_032383.5):c.884+25delT - HPS3_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 1 - c.884+25dup r.(=) p.(=) - benign g.148859000dup g.149141213dup HPS3(NM_032383.4):c.884+25dupT - CP_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.885-1G>A r.spl? p.? - pathogenic g.148859081G>A g.149141294G>A HPS3(NM_032383.4):c.885-1G>A - CP_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/. 1 - c.970+7A>G r.(=) p.(=) - benign g.148859174A>G g.149141387A>G HPS3(NM_032383.5):c.970+7A>G - HPS3_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1044A>G r.(?) p.(Leu348=) - likely benign g.148863214A>G g.149145427A>G HPS3(NM_032383.4):c.1044A>G (p.L348=) - CP_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1153_1160del r.(?) p.(Val385Lysfs*2) ACMG likely pathogenic g.148863323_148863330del g.149145536_149145543del - - HPS3_000008 - PubMed: Trujillano 2017 - - Germline - - - - - Daniel Trujillano
+/. 6 5i c.1163+1G>A r.spl, r.spl? p.? - pathogenic g.148863334G>A g.149145547G>A 1303+1G>A - HPS3_000002 5 heterozygous, no homozygous; Clinindb (India), splice mutation PubMed: Huizing 2001, OMIM:var0002, PubMed: Narang 2020, Journal: Narang 2020 - rs201227603 Germline - 5/2795 individuals - - - William (Bill) Oetting, Mohammed Faruq
+/. 1 6 c.1189C>T r.(?) p.(Arg397Trp) - pathogenic g.148868411C>T g.149150624C>T C1329T - HPS3_000006 - PubMed: Huizing 2001, OMIM:var0006 - - Germline - - - - - William (Bill) Oetting
-/. 1 - c.1366A>G r.(?) p.(Ile456Val) - benign g.148871401A>G g.149153614A>G HPS3(NM_032383.4):c.1366A>G (p.I456V) - HPS3_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.1378A>T r.(?) p.(Arg460Ter) - pathogenic g.148871413A>T g.149153626A>T HPS3(NM_032383.4):c.1378A>T (p.R460*) - HPS3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 9i c.1691+2T>G r.spl p.? - pathogenic g.148875320T>G g.149157533T>G 1831+2T>G - HPS3_000003 splice mutation PubMed: Huizing 2001, OMIM:var0003 - - Germline - - - - - William (Bill) Oetting
?/. 1 - c.1769G>A r.(?) p.(Arg590His) - VUS g.148876530G>A - HPS3(NM_032383.4):c.1769G>A (p.R590H) - CP_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1773G>A r.(?) p.(Thr591=) - VUS g.148876534G>A g.149158747G>A HPS3(NM_032383.4):c.1773G>A (p.T591=) - HPS3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2018C>T r.(?) p.(Ser673Leu) - VUS g.148877978C>T g.149160191C>T HPS3(NM_032383.4):c.2018C>T (p.S673L) - CP_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2019G>A r.(?) p.(Ser673=) - likely benign g.148877979G>A - HPS3(NM_032383.4):c.2019G>A (p.S673=) - CP_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.2055G>A r.(?) p.(Leu685=) - benign, likely benign g.148878015G>A g.149160228G>A HPS3(NM_032383.4):c.2055G>A (p.L685=) - HPS3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
?/. 1 - c.2215G>A r.(?) p.(Gly739Arg) - VUS g.148880043G>A g.149162256G>A - - HPS3_000023 conflicting interpretations of pathogenicity; 10 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs78336249 Germline - 10/2795 individuals - - - Mohammed Faruq
?/. 1 - c.2281T>C r.(?) p.(Ser761Pro) - VUS g.148880109T>C g.149162322T>C HPS3(NM_032383.4):c.2281T>C (p.S761P) - HPS3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.2378T>C r.(?) p.(Val793Ala) - likely benign g.148880562T>C g.149162775T>C HPS3(NM_032383.4):c.2378T>C (p.V793A) - CP_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 13i c.2482-2A>G r.spl p.? - pathogenic g.148881627A>G g.149163840A>G 2621-2A>G - HPS3_000004 splice mutation PubMed: Huizing 2001, OMIM:var0004 - - Germline - - - - - William (Bill) Oetting
-/. 1 - c.2527G>A r.(?) p.(Val843Ile) - benign g.148881674G>A g.149163887G>A HPS3(NM_032383.4):c.2527G>A (p.V843I) - HPS3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 14i c.2589+1G>C r.2482_2589del p.del - pathogenic g.148881737G>C g.149163950G>C 2729+1G>C - HPS3_000005 splice mutation PubMed: Huizing 2001, OMIM:var0005 - - Germline - - - - - William (Bill) Oetting
?/. 1 - c.2633C>T r.(?) p.(Pro878Leu) - VUS g.148884864C>T g.149167077C>T HPS3(NM_032383.4):c.2633C>T (p.P878L) - CP_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.2692C>T r.(?) p.(Arg898Cys) - likely benign g.148884923C>T g.149167136C>T HPS3(NM_032383.4):c.2692C>T (p.R898C) - HPS3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
+/. 1 - c.2736del r.(?) p.(Glu913Argfs*15) - pathogenic g.148884967del g.149167180del - - HPS3_000024 - - - - Unknown - - - - - IMGAG
-/. 1 - c.2887+19dup r.(=) p.(=) - benign g.148885789dup g.149168002dup HPS3(NM_032383.5):c.2887+19dupT - CP_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+/. 1 16i c.2888-1612G>A r.2887_2888ins2888-1610_2888-1522 p.(fs*) - pathogenic g.148888270G>A g.149170483G>A 3027ins89 - HPS3_000007 unknown variant 2nd chromosome PubMed: Huizing 2001, OMIM:var0007 - - Germline - - - - - William (Bill) Oetting
-?/. 1 - c.2910G>A r.(?) p.(Val970=) - likely benign g.148889904G>A g.149172117G>A HPS3(NM_032383.4):c.2910G>A (p.V970=) - CP_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*983T>G r.(=) p.(=) - VUS g.148890992T>G g.149173205T>G - - CP_000086 7 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs13098532 Germline - 7/2795 individuals - - - Mohammed Faruq
-/., -?/. 2 - c.*1512T>C r.(=) p.(=) - benign, likely benign g.148891521T>C g.149173734T>C CP(NM_000096.3):c.3182-4A>G - CP_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.*4079C>T r.(=) p.(=) - VUS g.148894088C>T g.149176301C>T CP(NM_000096.3):c.3130G>A (p.D1044N) - CP_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.*5638C>T r.(=) p.(=) - VUS g.148895647C>T g.149177860C>T CP(NM_000096.3):c.2998G>A (p.G1000S) - CP_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.*5639G>A r.(=) p.(=) - likely benign g.148895648G>A g.149177861G>A CP(NM_000096.3):c.2997C>T (p.H999=) - CP_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.*5645A>G r.(=) p.(=) - benign, likely benign g.148895654A>G g.149177867A>G CP(NM_000096.3):c.2991T>C (p.H997=) - CP_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.*5650C>T r.(=) p.(=) - likely benign g.148895659C>T g.149177872C>T CP(NM_000096.3):c.2986G>A (p.V996I) - CP_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.*5714C>T r.(=) p.(=) - VUS g.148895723C>T g.149177936C>T CP(NM_000096.3):c.2922G>A (p.M974I) - CP_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*6181A>C r.(=) p.(=) - likely benign g.148896190A>C g.149178403A>C CP(NM_000096.3):c.2878+12T>G - CP_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.*6244C>T r.(=) p.(=) - VUS g.148896253C>T g.149178466C>T - - CP_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 2 - c.*6278T>C r.(=) p.(=) - likely benign g.148896287T>C g.149178500T>C CP(NM_000096.3):c.2793A>G (p.L931=), CP(NM_000096.4):c.2793A>G (p.L931=) - CP_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
?/. 3 - c.*6387C>G r.(=) p.(=) - VUS g.148896396C>G g.149178609C>G CP(NM_000096.3):c.2684G>C (p.G895A), CP(NM_000096.4):c.2684G>C (p.G895A) - CP_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-/. 3 - c.*6421A>G r.(=) p.(=) - benign g.148896430A>G g.149178643A>G CP(NM_000096.3):c.2662-12T>C - CP_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
?/. 1 - c.*7384C>T r.(=) p.(=) - VUS g.148897393C>T - CP(NM_000096.3):c.2611G>A (p.D871N) - CP_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.*7424G>A r.(=) p.(=) - likely benign g.148897433G>A g.149179646G>A CP(NM_000096.3):c.2571C>T (p.Y857=) - CP_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.*9763A>C r.(=) p.(=) - likely benign g.148899772A>C g.149181985A>C CP(NM_000096.3):c.2554+20T>G - CP_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.*9764_*9768dup r.(=) p.(=) - likely benign g.148899773_148899777dup g.149181986_149181990dup CP(NM_000096.3):c.2554+15_2554+19dupGGGGG - CP_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 2 - c.*9766C>T r.(=) p.(=) - benign g.148899775C>T g.149181988C>T CP(NM_000096.3):c.2554+17G>A - CP_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.*9769G>C r.(=) p.(=) - likely benign g.148899778G>C g.149181991G>C CP(NM_000096.3):c.2554+14C>G - CP_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 2 - c.*9775G>A r.(=) p.(=) - likely benign g.148899784G>A g.149181997G>A CP(NM_000096.3):c.2554+8C>T - CP_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.*9775_*9781del r.(=) p.(=) - likely benign g.148899784_148899790del g.149181997_149182003del CP(NM_000096.3):c.2554+2_2554+8delTACTCAC - CP_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., -?/. 3 - c.*9815G>C r.(=) p.(=) - benign, likely benign g.148899824G>C g.149182037G>C CP(NM_000096.3):c.2522C>G (p.T841R), CP(NM_000096.4):c.2522C>G (p.T841R) - CP_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
-?/. 2 - c.*9891C>T r.(=) p.(=) - likely benign g.148899900C>T g.149182113C>T CP(NM_000096.3):c.2446G>A (p.V816I) - CP_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
+?/. 1 - c.*11243C>T r.(=) p.(=) - likely pathogenic g.148901252C>T - CP(NM_000096.3):c.2425+1G>A - CP_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.*11291C>T r.(=) p.(=) - benign, likely benign g.148901300C>T g.149183513C>T CP(NM_000096.3):c.2378G>A (p.R793H) - CP_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 2 - c.*11359C>T r.(=) p.(=) - likely benign g.148901368C>T g.149183581C>T CP(NM_000096.3):c.2310G>A (p.K770=) - CP_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.*11382C>A r.(=) p.(=) - likely benign g.148901391C>A g.149183604C>A CP(NM_000096.3):c.2287G>T (p.V763F) - CP_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., -?/. 2 - c.*11395A>C r.(=) p.(=) - benign, likely benign g.148901404A>C g.149183617A>C CP(NM_000096.3):c.2286-12T>G - CP_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc
-/. 1 - c.*11397del r.(?) p.(=) - benign g.148901406del g.149183619del CP(NM_000096.3):c.2286-4delT - CP_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., -?/. 3 - c.*11397dup r.(?) p.(=) - benign, likely benign g.148901406dup g.149183619dup CP(NM_000096.3):c.2286-4dupT, CP(NM_000096.4):c.2286-4dupT - CP_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
-/., -?/. 2 - c.*11398C>A r.(=) p.(=) - benign, likely benign g.148901407C>A g.149183620C>A CP(NM_000096.3):c.2286-15G>T, CP(NM_000096.4):c.2286-15G>T - CP_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_VUmc
-/. 2 - c.*11398del r.(?) p.(=) - benign g.148901407del g.149183620del CP(NM_000096.3):c.2286-15delG - CP_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.*11398_*11399del r.(=) p.(=) - likely benign g.148901407_148901408del g.149183620_149183621del CP(NM_000096.3):c.2286-15_2286-14delGT - CP_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.*13008G>A r.(=) p.(=) - likely benign g.148903017G>A - CP(NM_000096.3):c.2285+9C>T - CP_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*13111C>G r.(=) p.(=) - likely benign g.148903120C>G g.149185333C>G CP(NM_000096.3):c.2191G>C (p.E731Q) - CP_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 3 - c.*13144G>A r.(=) p.(=) - VUS g.148903153G>A g.149185366G>A CP(NM_000096.3):c.2158C>T (p.R720W), CP(NM_000096.4):c.2158C>T (p.R720W) - CP_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
?/. 1 - c.*14415C>T r.(=) p.(=) - VUS g.148904424C>T g.149186637C>T CP(NM_000096.3):c.1960G>A (p.D654N) - CP_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/. 3 - c.*14425T>G r.(=) p.(=) - benign g.148904434T>G g.149186647T>G CP(NM_000096.3):c.1950A>C (p.G650=) - CP_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+/. 1 - c.*14427C>T r.(=) p.(=) - pathogenic g.148904436C>T g.149186649C>T CP(NM_000096.3):c.1948G>A (p.G650R) - CP_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.*14430C>T r.(=) p.(=) - likely benign g.148904439C>T g.149186652C>T CP(NM_000096.3):c.1945G>A (p.A649T) - CP_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.*15876C>T r.(=) p.(=) - likely benign g.148905885C>T g.149188098C>T CP(NM_000096.3):c.1818G>A (p.Q606=) - CP_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., -?/. 4 - c.*26206G>A r.(=) p.(=) - benign, likely benign g.148916215G>A g.149198428G>A CP(NM_000096.3):c.1652C>T (p.T551I), CP(NM_000096.4):c.1652C>T (p.T551I) - CP_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-/. 3 - c.*26226T>A r.(=) p.(=) - benign g.148916235T>A g.149198448T>A CP(NM_000096.3):c.1632A>T (p.E544D), CP(NM_000096.4):c.1632A>T (p.E544D) - CP_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
?/. 1 - c.*26264G>C r.(=) p.(=) - VUS g.148916273G>C - CP(NM_000096.3):c.1594C>G (p.P532A) - CP_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*27490T>G r.(=) p.(=) - likely benign g.148917499T>G g.149199712T>G CP(NM_000096.3):c.1501A>C (p.S501R) - CP_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.*27498T>C r.(=) p.(=) - likely benign g.148917507T>C g.149199720T>C CP(NM_000096.3):c.1493A>G (p.Q498R) - CP_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*27533G>A r.(=) p.(=) - likely benign g.148917542G>A g.149199755G>A CP(NM_000096.3):c.1458C>T (p.N486=) - CP_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 3 - c.*27561G>A r.(=) p.(=) - likely benign, VUS g.148917570G>A g.149199783G>A CP(NM_000096.3):c.1430C>T (p.P477L), CP(NM_000096.4):c.1430C>T (p.P477L) - CP_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen, VKGL-NL_Nijmegen, VKGL-NL_VUmc
-?/. 1 - c.*27638A>G r.(=) p.(=) - likely benign g.148917647A>G g.149199860A>G CP(NM_000096.3):c.1353T>C (p.P451=) - CP_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.*27655A>G r.(=) p.(=) - likely benign g.148917664A>G g.149199877A>G CP(NM_000096.3):c.1349-13T>C - CP_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-/., -?/. 2 - c.*29871A>G r.(=) p.(=) - benign, likely benign g.148919880A>G g.149202093A>G CP(NM_000096.3):c.1348+9T>C - CP_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.*29952G>T r.(=) p.(=) - likely benign g.148919961G>T - CP(NM_000096.3):c.1276C>A (p.R426S) - CP_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.*29953A>G r.(=) p.(=) - benign, likely benign g.148919962A>G g.149202175A>G CP(NM_000096.3):c.1275T>C (p.Y425=) - CP_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
?/. 1 - c.*29970A>G r.(=) p.(=) - VUS g.148919979A>G - - - CP_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.*30011G>T r.(=) p.(=) - likely benign g.148920020G>T g.149202233G>T CP(NM_000096.3):c.1217C>A (p.A406E) - CP_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*30034A>T r.(=) p.(=) - likely benign g.148920043A>T g.149202256A>T CP(NM_000096.3):c.1209-15T>A - CP_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.*34022C>T r.(=) p.(=) - VUS g.148924031C>T g.149206244C>T CP(NM_000096.3):c.1132G>A (p.A378T) - CP_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.*34050C>G r.(=) p.(=) - likely benign g.148924059C>G g.149206272C>G CP(NM_000096.3):c.1104G>C (p.G368=) - CP_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.*34055G>A r.(=) p.(=) - likely benign g.148924064G>A g.149206277G>A CP(NM_000096.3):c.1099C>T (p.R367C) - CP_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.*34116G>A r.(=) p.(=) - likely benign g.148924125G>A g.149206338G>A CP(NM_000096.3):c.1038C>T (p.A346=) - CP_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/., ?/. 4 - c.*35239G>A r.(=) p.(=) - likely benign, VUS g.148925248G>A g.149207461G>A CP(NM_000096.3):c.938C>T (p.T313I, p.(Thr313Ile)), CP(NM_000096.4):c.938C>T (p.T313I) - CP_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_VUmc
?/. 1 - c.*35248C>T r.(=) p.(=) - VUS g.148925257C>T g.149207470C>T CP(NM_000096.3):c.929G>A (p.R310H) - CP_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*35299T>C r.(=) p.(=) - VUS g.148925308T>C - CP(NM_000096.4):c.878A>G (p.D293G) - CP_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 2 - c.*35389T>C r.(=) p.(=) - VUS g.148925398T>C g.149207611T>C CP(NM_000096.3):c.788A>G (p.N263S) - CP_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 1 - c.*35404C>A r.(=) p.(=) - likely benign g.148925413C>A g.149207626C>A CP(NM_000096.3):c.782-9G>T - CP_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.*35409G>A r.(=) p.(=) - benign g.148925418G>A g.149207631G>A CP(NM_000096.3):c.782-14C>T - CP_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
Legend   How to query   « First ‹ Prev     1 2     Next › Last »