NM_014706.4(SART3):c.1771G>A (p.Val591Met) |
single nucleotide variant |
Porokeratosis 3, disseminated superficial actinic type [RCV000000897] |
Chr12:108530286 [GRCh38] Chr12:108924063 [GRCh37] Chr12:12q23.3 |
uncertain significance |
GRCh38/hg38 12q23.3-24.13(chr12:105234677-112194686)x1 |
copy number loss |
See cases [RCV000050807] |
Chr12:105234677..112194686 [GRCh38] Chr12:105628455..112632490 [GRCh37] Chr12:104152585..111116873 [NCBI36] Chr12:12q23.3-24.13 |
pathogenic |
GRCh38/hg38 12q23.1-23.3(chr12:100670616-108583607)x1 |
copy number loss |
See cases [RCV000051320] |
Chr12:100670616..108583607 [GRCh38] Chr12:101064394..108977383 [GRCh37] Chr12:99588525..107501512 [NCBI36] Chr12:12q23.1-23.3 |
pathogenic |
NM_014706.3(SART3):c.2809G>A (p.Ala937Thr) |
single nucleotide variant |
Malignant melanoma [RCV000069797] |
Chr12:108523540 [GRCh38] Chr12:108917317 [GRCh37] Chr12:107441447 [NCBI36] Chr12:12q23.3 |
not provided |
GRCh38/hg38 12q23.3-24.11(chr12:105644967-108994840)x1 |
copy number loss |
See cases [RCV000138537] |
Chr12:105644967..108994840 [GRCh38] Chr12:106038745..109432645 [GRCh37] Chr12:104562875..107917026 [NCBI36] Chr12:12q23.3-24.11 |
uncertain significance |
GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3 |
copy number gain |
See cases [RCV000139555] |
Chr12:121271..133196807 [GRCh38] Chr12:282465..133773393 [GRCh37] Chr12:100698..132283466 [NCBI36] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3 |
copy number gain |
See cases [RCV000142447] |
Chr12:91044318..109133210 [GRCh38] Chr12:91438095..109571015 [GRCh37] Chr12:89962226..108055398 [NCBI36] Chr12:12q21.33-24.11 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3 |
copy number gain |
See cases [RCV000258805] |
Chr12:1..133851895 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic|likely pathogenic |
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805)x1 |
copy number loss |
See cases [RCV000445832] |
Chr12:103044333..111639805 [GRCh37] Chr12:12q23.2-24.11 |
likely pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3 |
copy number gain |
See cases [RCV000510482] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902) |
copy number gain |
See cases [RCV000511643] |
Chr12:173787..133777902 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
NM_014706.4(SART3):c.2707T>C (p.Tyr903His) |
single nucleotide variant |
not specified [RCV004304421] |
Chr12:108524323 [GRCh38] Chr12:108918100 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.272A>C (p.Glu91Ala) |
single nucleotide variant |
not specified [RCV004282507] |
Chr12:108560883 [GRCh38] Chr12:108954659 [GRCh37] Chr12:12q23.3 |
uncertain significance |
GRCh37/hg19 12p13.33-q24.33(chr12:191619-133777645)x3 |
copy number gain |
not provided [RCV000750246] |
Chr12:191619..133777645 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12p13.33-q24.33(chr12:621220-133779118)x3 |
copy number gain |
not provided [RCV000750253] |
Chr12:621220..133779118 [GRCh37] Chr12:12p13.33-q24.33 |
pathogenic |
GRCh37/hg19 12q23.3-24.11(chr12:108917234-109052695)x3 |
copy number gain |
not provided [RCV003312255] |
Chr12:108917234..109052695 [GRCh37] Chr12:12q23.3-24.11 |
uncertain significance |
NM_014706.4(SART3):c.1310-5G>A |
single nucleotide variant |
not provided [RCV000905116] |
Chr12:108536790 [GRCh38] Chr12:108930566 [GRCh37] Chr12:12q23.3 |
benign |
NM_014706.4(SART3):c.544+10C>T |
single nucleotide variant |
not provided [RCV000880546] |
Chr12:108547877 [GRCh38] Chr12:108941653 [GRCh37] Chr12:12q23.3 |
benign |
NM_014706.4(SART3):c.2073C>T (p.Asp691=) |
single nucleotide variant |
not provided [RCV000971398] |
Chr12:108526396 [GRCh38] Chr12:108920173 [GRCh37] Chr12:12q23.3 |
benign |
NM_014706.4(SART3):c.2796C>T (p.Asn932=) |
single nucleotide variant |
not provided [RCV000967285] |
Chr12:108523553 [GRCh38] Chr12:108917330 [GRCh37] Chr12:12q23.3 |
benign |
NM_014706.4(SART3):c.619C>T (p.Arg207Cys) |
single nucleotide variant |
not specified [RCV004295782] |
Chr12:108545249 [GRCh38] Chr12:108939025 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.2153C>T (p.Pro718Leu) |
single nucleotide variant |
Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis [RCV003236678] |
Chr12:108526316 [GRCh38] Chr12:108920093 [GRCh37] Chr12:12q23.3 |
likely pathogenic |
NM_014706.4(SART3):c.1555A>G (p.Arg519Gly) |
single nucleotide variant |
Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis [RCV003236679] |
Chr12:108535360 [GRCh38] Chr12:108929136 [GRCh37] Chr12:12q23.3 |
likely pathogenic |
NM_014706.4(SART3):c.1110C>T (p.Arg370=) |
single nucleotide variant |
not provided [RCV000947482] |
Chr12:108538156 [GRCh38] Chr12:108931932 [GRCh37] Chr12:12q23.3 |
benign |
NM_014706.4(SART3):c.631G>A (p.Glu211Lys) |
single nucleotide variant |
Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis [RCV003236673] |
Chr12:108545237 [GRCh38] Chr12:108939013 [GRCh37] Chr12:12q23.3 |
likely pathogenic |
GRCh37/hg19 12q23.3-24.12(chr12:106498814-112252906)x1 |
copy number loss |
not provided [RCV001259630] |
Chr12:106498814..112252906 [GRCh37] Chr12:12q23.3-24.12 |
pathogenic |
GRCh37/hg19 12q23.3-24.11(chr12:107197584-109830564)x1 |
copy number loss |
not provided [RCV001270637] |
Chr12:107197584..109830564 [GRCh37] Chr12:12q23.3-24.11 |
uncertain significance |
GRCh37/hg19 12q23.3-24.12(chr12:104230462-111984801)x1 |
copy number loss |
not provided [RCV001834231] |
Chr12:104230462..111984801 [GRCh37] Chr12:12q23.3-24.12 |
pathogenic |
GRCh37/hg19 12q23.2-24.11(chr12:103044333-111639805) |
copy number loss |
not specified [RCV002053016] |
Chr12:103044333..111639805 [GRCh37] Chr12:12q23.2-24.11 |
likely pathogenic |
NM_014706.4(SART3):c.2299C>T (p.Arg767Trp) |
single nucleotide variant |
Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis [RCV003236674] |
Chr12:108526170 [GRCh38] Chr12:108919947 [GRCh37] Chr12:12q23.3 |
likely pathogenic |
NM_014706.4(SART3):c.757C>T (p.Arg253Ter) |
single nucleotide variant |
Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis [RCV003236675] |
Chr12:108544451 [GRCh38] Chr12:108938227 [GRCh37] Chr12:12q23.3 |
likely pathogenic |
NM_014706.4(SART3):c.1477C>T (p.Arg493Trp) |
single nucleotide variant |
Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis [RCV003236676] |
Chr12:108535438 [GRCh38] Chr12:108929214 [GRCh37] Chr12:12q23.3 |
likely pathogenic |
NM_014706.4(SART3):c.646T>C (p.Ser216Pro) |
single nucleotide variant |
Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis [RCV003236677] |
Chr12:108545222 [GRCh38] Chr12:108938998 [GRCh37] Chr12:12q23.3 |
likely pathogenic |
NM_014706.4(SART3):c.2507G>A (p.Arg836Gln) |
single nucleotide variant |
Intellectual disability, Neurodevelopmental defects and Developmental delay with 46,XY gonadal dysgenesis [RCV003236672] |
Chr12:108525473 [GRCh38] Chr12:108919250 [GRCh37] Chr12:12q23.3 |
likely pathogenic |
NM_014706.4(SART3):c.2036C>T (p.Ser679Leu) |
single nucleotide variant |
not specified [RCV004159733] |
Chr12:108526433 [GRCh38] Chr12:108920210 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.1639G>A (p.Glu547Lys) |
single nucleotide variant |
not specified [RCV004084787] |
Chr12:108532252 [GRCh38] Chr12:108926028 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.2435G>A (p.Cys812Tyr) |
single nucleotide variant |
not specified [RCV004146824] |
Chr12:108525545 [GRCh38] Chr12:108919322 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.715G>T (p.Val239Leu) |
single nucleotide variant |
not specified [RCV004247096] |
Chr12:108545153 [GRCh38] Chr12:108938929 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.1398G>C (p.Glu466Asp) |
single nucleotide variant |
not specified [RCV004142180] |
Chr12:108536562 [GRCh38] Chr12:108930338 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.1363T>C (p.Tyr455His) |
single nucleotide variant |
not specified [RCV004202980] |
Chr12:108536732 [GRCh38] Chr12:108930508 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.1561C>T (p.His521Tyr) |
single nucleotide variant |
not specified [RCV004169529] |
Chr12:108532330 [GRCh38] Chr12:108926106 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.1402G>A (p.Gly468Ser) |
single nucleotide variant |
not specified [RCV004227064] |
Chr12:108536558 [GRCh38] Chr12:108930334 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.1978G>C (p.Val660Leu) |
single nucleotide variant |
not specified [RCV004151292] |
Chr12:108526491 [GRCh38] Chr12:108920268 [GRCh37] Chr12:12q23.3 |
likely benign |
NM_014706.4(SART3):c.1210G>A (p.Glu404Lys) |
single nucleotide variant |
not specified [RCV004123400] |
Chr12:108537587 [GRCh38] Chr12:108931363 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.2212A>G (p.Ile738Val) |
single nucleotide variant |
not specified [RCV004191839] |
Chr12:108526257 [GRCh38] Chr12:108920034 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.616G>A (p.Val206Ile) |
single nucleotide variant |
not specified [RCV004241511] |
Chr12:108545252 [GRCh38] Chr12:108939028 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.323A>G (p.Asn108Ser) |
single nucleotide variant |
not specified [RCV004213282] |
Chr12:108549204 [GRCh38] Chr12:108942980 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.95C>G (p.Ala32Gly) |
single nucleotide variant |
not specified [RCV004116586] |
Chr12:108561060 [GRCh38] Chr12:108954836 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.1918C>A (p.Gln640Lys) |
single nucleotide variant |
not specified [RCV004156556] |
Chr12:108526551 [GRCh38] Chr12:108920328 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.1394A>G (p.Asn465Ser) |
single nucleotide variant |
not specified [RCV004103509] |
Chr12:108536566 [GRCh38] Chr12:108930342 [GRCh37] Chr12:12q23.3 |
likely benign |
NM_014706.4(SART3):c.94G>A (p.Ala32Thr) |
single nucleotide variant |
not specified [RCV004176888] |
Chr12:108561061 [GRCh38] Chr12:108954837 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.119C>T (p.Ser40Leu) |
single nucleotide variant |
not specified [RCV004237055] |
Chr12:108561036 [GRCh38] Chr12:108954812 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.2376C>G (p.Phe792Leu) |
single nucleotide variant |
not specified [RCV004097248] |
Chr12:108525604 [GRCh38] Chr12:108919381 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.644C>T (p.Ser215Leu) |
single nucleotide variant |
not specified [RCV004076781] |
Chr12:108545224 [GRCh38] Chr12:108939000 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.11C>T (p.Ala4Val) |
single nucleotide variant |
not specified [RCV004255139] |
Chr12:108561144 [GRCh38] Chr12:108954920 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.174G>T (p.Gln58His) |
single nucleotide variant |
not specified [RCV004258721] |
Chr12:108560981 [GRCh38] Chr12:108954757 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.625G>A (p.Val209Met) |
single nucleotide variant |
not provided [RCV003331482] |
Chr12:108545243 [GRCh38] Chr12:108939019 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.2818G>C (p.Val940Leu) |
single nucleotide variant |
not specified [RCV004361263] |
Chr12:108523531 [GRCh38] Chr12:108917308 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.2786A>G (p.Gln929Arg) |
single nucleotide variant |
not specified [RCV004450201] |
Chr12:108523563 [GRCh38] Chr12:108917340 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.831A>G (p.Ile277Met) |
single nucleotide variant |
not specified [RCV004450203] |
Chr12:108543103 [GRCh38] Chr12:108936879 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.2717G>A (p.Arg906Lys) |
single nucleotide variant |
not specified [RCV004450200] |
Chr12:108523632 [GRCh38] Chr12:108917409 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.1045C>T (p.Arg349Cys) |
single nucleotide variant |
not specified [RCV004450193] |
Chr12:108538951 [GRCh38] Chr12:108932727 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.2504A>G (p.Asn835Ser) |
single nucleotide variant |
not specified [RCV004450198] |
Chr12:108525476 [GRCh38] Chr12:108919253 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.2824G>A (p.Ala942Thr) |
single nucleotide variant |
not specified [RCV004450202] |
Chr12:108523525 [GRCh38] Chr12:108917302 [GRCh37] Chr12:12q23.3 |
likely benign |
NM_014706.4(SART3):c.1277A>T (p.Asp426Val) |
single nucleotide variant |
not specified [RCV004450195] |
Chr12:108537520 [GRCh38] Chr12:108931296 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.2549A>G (p.Asn850Ser) |
single nucleotide variant |
not specified [RCV004450199] |
Chr12:108524481 [GRCh38] Chr12:108918258 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.1351C>T (p.Arg451Cys) |
single nucleotide variant |
not specified [RCV004450196] |
Chr12:108536744 [GRCh38] Chr12:108930520 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.2282A>G (p.Gln761Arg) |
single nucleotide variant |
not specified [RCV004450197] |
Chr12:108526187 [GRCh38] Chr12:108919964 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.647C>G (p.Ser216Cys) |
single nucleotide variant |
not specified [RCV004658488] |
Chr12:108545221 [GRCh38] Chr12:108938997 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.2822C>A (p.Ala941Asp) |
single nucleotide variant |
not specified [RCV004658489] |
Chr12:108523527 [GRCh38] Chr12:108917304 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.1712C>T (p.Thr571Ile) |
single nucleotide variant |
not specified [RCV004674482] |
Chr12:108531238 [GRCh38] Chr12:108925015 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.1955C>G (p.Pro652Arg) |
single nucleotide variant |
not specified [RCV004674483] |
Chr12:108526514 [GRCh38] Chr12:108920291 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.2801C>T (p.Pro934Leu) |
single nucleotide variant |
not specified [RCV004674484] |
Chr12:108523548 [GRCh38] Chr12:108917325 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.2419G>A (p.Gly807Ser) |
single nucleotide variant |
not specified [RCV004674485] |
Chr12:108525561 [GRCh38] Chr12:108919338 [GRCh37] Chr12:12q23.3 |
uncertain significance |
NM_014706.4(SART3):c.2828C>T (p.Pro943Leu) |
single nucleotide variant |
not specified [RCV004674486] |
Chr12:108523521 [GRCh38] Chr12:108917298 [GRCh37] Chr12:12q23.3 |
uncertain significance |