Unique variants in gene DNASE1

Information The variants shown are described using the NM_005223.3 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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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.-46546T>C r.(?) p.(=) - likely benign g.3658501T>C g.3608500T>C SLX4(NM_032444.2):c.465A>G (p.E155=) - SLX4_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.-46420A>G r.(?) p.(=) - likely benign g.3658627A>G g.3608626A>G SLX4(NM_032444.2):c.339T>C (p.S113=) - SLX4_000122 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_VUmc
-?/. 2 - c.-46416G>A r.(?) p.(=) - likely benign g.3658631G>A g.3608630G>A SLX4(NM_032444.2):c.335C>T (p.P112L) - SLX4_000123 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_Rotterdam
-?/. 2 - c.-46171G>A r.(?) p.(=) - likely benign g.3658876G>A g.3608875G>A SLX4(NM_032444.2):c.90C>T (p.S30=) - SLX4_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc, VKGL-NL_AMC
-?/. 1 - c.105G>C r.(?) p.(Glu35Asp) - likely benign g.3705479G>C g.3655478G>C DNASE1(NM_005223.3):c.105G>C (p.E35D) - DNASE1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.117C>T r.(?) p.(Ser39=) - likely benign g.3705491C>T g.3655490C>T DNASE1(NM_005223.3):c.117C>T (p.S39=) - DNASE1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.157C>T r.(?) p.(Arg53Cys) - VUS g.3705859C>T g.3655858C>T DNASE1(NM_005223.3):c.157C>T (p.R53C) - DNASE1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.171_226dup r.(?) p.(Asn76ThrfsTer11) - likely pathogenic g.3705873_3705928dup g.3655872_3655927dup - - DNASE1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.319A>G r.(?) p.(Arg107Gly) - likely benign g.3706185A>G g.3656184A>G DNASE1(NM_005223.3):c.319A>G (p.R107G) - DNASE1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
+?/. 1 - c.331G>A r.(?) p.(Val111Met) - likely pathogenic g.3706649G>A - DNASE1(NM_005223.3):c.331G>A (p.V111M) - DNASE1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.343G>C r.(?) p.(Asp115His) - VUS g.3706661G>C g.3656660G>C DNASE1(NM_005223.3):c.343G>C (p.D115H) - DNASE1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.369C>T r.(?) p.(Cys123=) - VUS g.3706687C>T g.3656686C>T DNASE1(NM_005223.3):c.369C>T (p.C123=) - DNASE1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.379G>A r.(?) p.(Gly127Arg) - VUS g.3706697G>A g.3656696G>A - - DNASE1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.384C>T r.(?) p.(Asn128=) - likely benign g.3706702C>T g.3656701C>T DNASE1(NM_005223.3):c.384C>T (p.N128=) - DNASE1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.397C>G r.(?) p.(Arg133Gly) - VUS g.3706715C>G g.3656714C>G - - DNASE1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.397C>T r.(?) p.(Arg133Ter) - VUS g.3706715C>T g.3656714C>T - - DNASE1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.437-10G>A r.(=) p.(=) - likely benign g.3706990G>A g.3656989G>A DNASE1(NM_005223.3):c.437-10G>A - DNASE1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.493G>C r.(?) p.(Glu165Gln) - VUS g.3707056G>C g.3657055G>C DNASE1(NM_005223.3):c.493G>C (p.E165Q) - DNASE1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.499G>C r.(?) p.(Asp167His) - VUS g.3707062G>C g.3657061G>C DNASE1(NM_005223.3):c.499G>C (p.D167H) - DNASE1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/., ?/. 2 - c.503C>T r.(?) p.(Ala168Val) - likely benign, VUS g.3707066C>T g.3657065C>T DNASE1(NM_005223.3):c.503C>T (p.A168V, p.(Ala168Val)) - DNASE1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Leiden
?/. 1 - c.505C>T r.(?) p.(Leu169Phe) - VUS g.3707068C>T g.3657067C>T - - DNASE1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.514G>A r.(?) p.(Val172Ile) - VUS g.3707077G>A g.3657076G>A DNASE1(NM_005223.3):c.514G>A (p.V172I) - DNASE1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.528C>G r.(?) p.(Val176=) - likely benign g.3707091C>G g.3657090C>G DNASE1(NM_005223.3):c.528C>G (p.(=)) - DNASE1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.549+16G>A r.(=) p.(=) - likely benign g.3707128G>A g.3657127G>A DNASE1(NM_005223.3):c.549+16G>A - DNASE1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.550-8C>T r.(=) p.(=) - likely benign g.3707180C>T - DNASE1(NM_005223.3):c.550-8C>T - DNASE1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.553G>A r.(?) p.(Val185Ile) - likely benign g.3707191G>A g.3657190G>A DNASE1(NM_005223.3):c.553G>A (p.V185I) - DNASE1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 2 - c.567C>T r.(?) p.(Gly189=) - likely benign g.3707205C>T g.3657204C>T DNASE1(NM_005223.3):c.567C>T (p.G189=) - DNASE1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_Rotterdam
-?/. 1 - c.598C>A r.(?) p.(Pro200Thr) - likely benign g.3707236C>A g.3657235C>A DNASE1(NM_005223.3):c.598C>A (p.P200T) - DNASE1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.619C>T r.(?) p.(Arg207Cys) - VUS g.3707257C>T g.3657256C>T DNASE1(NM_005223.3):c.619C>T (p.R207C) - DNASE1_000022 VKGL data sharing initiative Nederland, 18 heterozygous, no homozygous; Clinindb (India) Faruq 2020, submtted - rs148373909 CLASSIFICATION record, Germline - 18/2795 individuals - - - VKGL-NL_Rotterdam, Mohammed Faruq
+?/. 1 - c.704+1G>C r.spl? p.? - likely pathogenic g.3707343G>C g.3657342G>C - - DNASE1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.780C>A r.(?) p.(Ala260=) - likely benign g.3707796C>A g.3657795C>A DNASE1(NM_005223.3):c.780C>A (p.A260=) - DNASE1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*176T>G r.(=) p.(=) - likely benign g.3708130T>G g.3658129T>G TRAP1(NM_016292.2):c.2115A>C (p.*705Cext*8) - DNASE1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 3 - c.*216C>T r.(=) p.(=) - likely benign g.3708170C>T g.3658169C>T TRAP1(NM_001272049.1):c.1916G>A (p.(Arg639His)) - DNASE1_000030 VKGL data sharing initiative Nederland, 102 heterozygous; Clinindb (India), 1 more item Faruq 2020, submtted - rs2791 CLASSIFICATION record, Germline - 102/2795 individuals, 2/2795 individuals - - - VKGL-NL_Leiden, Mohammed Faruq
?/., -?/. 2 - c.*238C>T r.(=) p.(=) - VUS, likely benign g.3708192C>T g.3658191C>T TRAP1(NM_016292.2):c.2053G>A (p.D685N) - DNASE1_000034 7 heterozygous, no homozygous; Clinindb (India), VKGL data sharing initiative Nederland Faruq 2020, submtted - rs61756352 Germline, CLASSIFICATION record - 7/2761 individuals - - - Mohammed Faruq, VKGL-NL_Utrecht
?/. 1 - c.*4052G>A r.(=) p.(=) - VUS g.3712006G>A g.3662005G>A TRAP1(NM_001272049.1):c.1763C>T (p.(Thr588Met)) - DNASE1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*4124G>A r.(=) p.(=) - VUS g.3712078G>A g.3662077G>A TRAP1(NM_001272049.1):c.1691C>T (p.(Ala564Val)) - DNASE1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*4152C>A r.(=) p.(=) - VUS g.3712106C>A g.3662105C>A TRAP1(NM_016292.2):c.1822G>T (p.A608S) - DNASE1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*4987G>A r.(=) p.(=) - likely benign g.3712941G>A g.3662940G>A TRAP1(NM_016292.2):c.1736C>T (p.T579M) - DNASE1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*5010G>A r.(=) p.(=) - likely benign g.3712964G>A g.3662963G>A TRAP1(NM_016292.2):c.1713C>T (p.A571=) - DNASE1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.*6458_*6460dup r.(=) p.(=) - benign g.3714412_3714414dup - TRAP1(NM_016292.2):c.1430_1432dupCCG (p.S477_G478insA) - DNASE1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*6484C>T r.(=) p.(=) - likely benign g.3714438C>T - TRAP1(NM_016292.2):c.1406G>A (p.R469H) - TRAP1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*8071A>T r.(=) p.(=) - likely benign g.3716025A>T g.3666024A>T TRAP1(NM_001272049.1):c.1171T>A (p.(Tyr391Asn)) - TRAP1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*8077C>T r.(=) p.(=) - VUS g.3716031C>T g.3666030C>T TRAP1(NM_016292.2):c.1324G>A (p.E442K) - DNASE1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.*18140T>C r.(=) p.(=) - likely benign g.3726094T>C - TRAP1(NM_016292.2):c.757A>G (p.I253V) - TRAP1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.*28131C>T r.(=) p.(=) - likely benign g.3736085C>T - TRAP1(NM_016292.2):c.383G>A (p.R128H) - DNASE1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
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