All variants in the PASD1 gene

Information The variants shown are described using the NM_173493.2 transcript reference sequence.

76 entries on 1 page. Showing entries 1 - 76.
Legend   How to query  

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     
-?/. - c.19A>G r.(?) p.(Lys7Glu) - likely benign g.150770044A>G - PASD1(NM_173493.3):c.19A>G (p.(Lys7Glu)) - PASD1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.110C>T r.(?) p.(Thr37Met) - likely benign g.150773199C>T g.151604727C>T PASD1(NM_173493.2):c.110C>T (p.T37M) - PASD1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.208-62dup r.(=) p.(=) - VUS g.150789340dup g.151620868dup - - PASD1_000015 - - - - Germline - - - - - Yu Sun
?/. - c.208-62dup r.(=) p.(=) - VUS g.150789340dup g.151620868dup - - PASD1_000018 - - - - Germline - - - - - Yu Sun
?/. - c.208-62dup r.(=) p.(=) - VUS g.150789340dup g.151620868dup - - PASD1_000018 - - - - Germline - - - - - Yu Sun
?/. - c.308-4C>T r.spl? p.? - VUS g.150789950C>T g.151621478C>T - - PASD1_000011 - - - - Germline - - - - - Yu Sun
?/. - c.308-4C>T r.spl? p.? - VUS g.150789950C>T g.151621478C>T - - PASD1_000011 - - - - Germline - - - - - Yu Sun
-?/. - c.349G>A r.(?) p.(Val117Ile) - likely benign g.150789995G>A g.151621523G>A PASD1(NM_173493.2):c.349G>A (p.V117I) - PASD1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.355C>T r.(?) p.(His119Tyr) - VUS g.150790001C>T g.151621529C>T PASD1(NM_173493.2):c.355C>T (p.(His119Tyr)) - PASD1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.479G>A r.(?) p.(Cys160Tyr) - likely benign g.150791469G>A g.151622997G>A PASD1(NM_173493.2):c.479G>A (p.C160Y) - PASD1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.513A>C r.(=) p.(=) - VUS g.150791503A>C g.151623031A>C G171G - PASD1_000044 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. - c.513A>G r.(=) p.(=) - VUS g.150791503A>G g.151623031A>G G171G - PASD1_000045 recurrent, found 37 times PubMed: Tarpey 2009 - - Germline - 37/208 cases - - - Lucy Raymond
?/. - c.522C>T r.(=) p.(=) - VUS g.150791512C>T g.151623040C>T C174C - PASD1_000046 recurrent, found 38 times PubMed: Tarpey 2009 - - Germline - 38/208 cases - - - Lucy Raymond
?/. - c.533C>T r.(?) p.(Thr178Ile) - VUS g.150791523C>T g.151623051C>T PASD1(NM_173493.2):c.533C>T (p.(Thr178Ile)) - PASD1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.546+332T>G r.(=) p.(=) - VUS g.150791868T>G g.151623396T>G - - PASD1_000013 - - - - Germline - - - - - Yu Sun
?/. - c.546+332T>G r.(=) p.(=) - VUS g.150791868T>G g.151623396T>G - - PASD1_000013 - - - - Germline - - - - - Yu Sun
?/. - c.549A>G r.(?) p.(Gln183=) - VUS g.150793922A>G g.151625450A>G PASD1(NM_173493.2):c.549A>G (p.(=)) - PASD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.584T>C r.(?) p.(Val195Ala) - VUS g.150793957T>C g.151625485T>C - - PASD1_000047 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. - c.593A>G r.(?) p.(Gln198Arg) - likely benign g.150793966A>G g.151625494A>G PASD1(NM_173493.2):c.593A>G (p.Q198R) - PASD1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.606G>A r.(=) p.(=) - VUS g.150793979G>A g.151625507G>A E202E - PASD1_000048 recurrent, found 4 times PubMed: Tarpey 2009 - - Germline - 4/208 cases - - - Lucy Raymond
-?/. - c.620G>T r.(?) p.(Gly207Val) - likely benign g.150793993G>T g.151625521G>T PASD1(NM_173493.2):c.620G>T (p.G207V) - PASD1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.626T>C r.(?) p.(Leu209Pro) - VUS g.150793999T>C g.151625527T>C PASD1(NM_173493.2):c.626T>C (p.(Leu209Pro)) - PASD1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.644A>G r.(?) p.(Gln215Arg) - likely benign g.150817101A>G g.151648629A>G PASD1(NM_173493.3):c.644A>G (p.(Gln215Arg)) - PASD1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.700_708del r.(?) p.(Ala234_Ala236del) - VUS g.150817157_150817165del g.151648685_151648693del PASD1(NM_173493.2):c.685_693del (p.(Ala232_Ala234del)) - PASD1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.713C>T r.(?) p.(Ser238Leu) - likely benign g.150817170C>T - PASD1(NM_173493.2):c.713C>T (p.S238L) - PASD1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.824C>G r.(?) p.(Thr275Ser) - likely benign g.150828291C>G g.151659819C>G PASD1(NM_173493.2):c.824C>G (p.T275S) - PASD1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.915G>A r.(=) p.(=) - VUS g.150832664G>A g.151664192G>A E305E - PASD1_000049 recurrent, found 3 times PubMed: Tarpey 2009 - - Germline - 3/208 cases - - - Lucy Raymond
?/. - c.958_975del r.(?) p.(Met320_Pro325del) - VUS g.150832707_150832724del g.151664235_151664252del PASD1(NM_173493.2):c.954_971del (p.(Met320_Pro325del)) - PASD1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.958_975del r.(?) p.(Met320_Pro325del) - VUS g.150832707_150832724del g.151664235_151664252del 958_975delATGGACCAGCAGGACCCA - PASD1_000050 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. - c.958_975del r.(?) p.(Met320_Pro325del) - likely benign g.150832707_150832724del g.151664235_151664252del PASD1 954_971delCCCAATGGACCAGCAGGA - PASD1_000029 - PubMed: Chia 2018 - - Germline - - - - - Johan den Dunnen
?/. - c.958_975del r.(?) p.(Met320_Pro325del) - likely benign g.150832707_150832724del g.151664235_151664252del PASD1 954_971delCCCAATGGACCAGCAGGA - PASD1_000029 - PubMed: Chia 2018 - - Germline - - - - - Johan den Dunnen
?/. - c.1072-5C>T r.spl? p.? - VUS g.150839505C>T g.151671033C>T PASD1(NM_173493.2):c.1072-5C>T (p.?) - PASD1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1156G>A r.(?) p.(Glu386Lys) - likely benign g.150839594G>A g.151671122G>A PASD1(NM_173493.2):c.1156G>A (p.(Glu386Lys)) - PASD1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1255G>A r.(?) p.(Val419Ile) - VUS g.150840069G>A g.151671597G>A PASD1(NM_173493.2):c.1255G>A (p.(Val419Ile)) - PASD1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1314C>T r.(?) p.(His438=) - likely benign g.150840128C>T g.151671656C>T PASD1(NM_173493.2):c.1314C>T (p.H438=) - PASD1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1339C>T r.(?) p.(Pro447Ser) - likely benign g.150840153C>T g.151671681C>T PASD1(NM_173493.2):c.1339C>T (p.(Pro447Ser)) - PASD1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1371T>C r.(?) p.(=) - VUS g.150840185T>C g.151671713T>C - - PASD1_000001 - - - - Germline - - - - - Yu Sun
?/. - c.1371T>C r.(?) p.(=) - VUS g.150840185T>C g.151671713T>C - - PASD1_000001 - - - - Germline - - - - - Yu Sun
?/. - c.1371T>C r.(=) p.(=) - VUS g.150840185T>C g.151671713T>C G457G - PASD1_000001 recurrent, found 28 times PubMed: Tarpey 2009 - - Germline - 28/208 cases - - - Lucy Raymond
-?/. - c.1456G>A r.(?) p.(Glu486Lys) - likely benign g.150840673G>A g.151672201G>A PASD1(NM_173493.2):c.1456G>A (p.E486K, p.(Glu486Lys)) - PASD1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1456G>A r.(?) p.(Glu486Lys) - likely benign g.150840673G>A - PASD1(NM_173493.2):c.1456G>A (p.E486K, p.(Glu486Lys)) - PASD1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1465C>T r.(?) p.(Leu489=) - likely benign g.150840682C>T - PASD1(NM_173493.2):c.1465C>T (p.L489=) - PASD1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1478_1498del r.(?) p.(Gln493_Gln499del) - VUS g.150840695_150840715del g.151672223_151672243del 1478_1498delAGCGGCAGCTGCGGGAGCAGC - PASD1_000051 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
-?/. - c.1478_1498del r.(?) p.(Gln493_Gln499del) - likely benign g.150840695_150840715del g.151672223_151672243del PASD1(NM_173493.2):c.1470_1490del (p.(Gln493_Gln499del)) - PASD1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1480C>T r.(?) p.(Arg494Trp) - likely benign g.150840697C>T g.151672225C>T PASD1(NM_173493.2):c.1480C>T (p.R494W, p.(Arg494Trp)) - PASD1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1480C>T r.(?) p.(Arg494Trp) - VUS g.150840697C>T - PASD1(NM_173493.2):c.1480C>T (p.R494W, p.(Arg494Trp)) - PASD1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1484_1498del r.(?) p.(Gln495_Gln499del) - VUS g.150840701_150840715del - PASD1(NM_173493.2):c.1484_1498delAGCTGCGGGAGCAGC (p.Q495_Q499del) - PASD1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1490G>C r.(?) p.(Arg497Pro) - likely benign g.150840707G>C g.151672235G>C PASD1(NM_173493.2):c.1490G>C (p.R497P) - PASD1_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1490G>T r.(?) p.(Arg497Leu) - likely benign g.150840707G>T g.151672235G>T PASD1(NM_173493.2):c.1490G>T (p.R497L, p.(Arg497Leu)) - PASD1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1490G>T r.(?) p.(Arg497Leu) - VUS g.150840707G>T g.151672235G>T PASD1(NM_173493.2):c.1490G>T (p.R497L, p.(Arg497Leu)) - PASD1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1491_1494del r.(?) p.(Glu498SerfsTer5) - VUS g.150840708_150840711del g.151672236_151672239del PASD1(NM_173493.2):c.1490_1493del (p.?) - PASD1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1492G>C r.(?) p.(Glu498Gln) - VUS g.150840709G>C g.151672237G>C PASD1(NM_173493.2):c.1492G>C (p.(Glu498Gln)) - PASD1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1493_1494insTCCC r.(?) p.(Glu498AspfsTer79) - VUS g.150840710_150840711insTCCC g.151672238_151672239insTCCC PASD1(NM_173493.2):c.1493_1494insTCCC (p.(Glu498Ala)) - PASD1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1502A>C r.(?) p.(Gln501Pro) - likely benign g.150840719A>C g.151672247A>C PASD1(NM_173493.2):c.1502A>C (p.Q501P, p.(Gln501Pro)) - PASD1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.1502A>C r.(?) p.(Gln501Pro) - VUS g.150840719A>C g.151672247A>C PASD1(NM_173493.2):c.1502A>C (p.Q501P, p.(Gln501Pro)) - PASD1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1521G>C r.(?) p.(Arg507Ser) - likely benign g.150840738G>C - PASD1(NM_173493.2):c.1521G>C (p.(Arg507Ser)) - PASD1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. - c.1525G>A r.(?) p.(Val509Met) - VUS g.150840742G>A g.151672270G>A - - PASD1_000052 recurrent, found 7 times PubMed: Tarpey 2009 - - Germline - 7/208 cases - - - Lucy Raymond
?/. - c.1565A>G r.(?) p.(Gln522Arg) - VUS g.150840782A>G - PASD1(NM_173493.2):c.1565A>G (p.(Gln522Arg)) - PASD1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.1609C>T r.(?) p.(Arg537Trp) - likely benign g.150840826C>T g.151672354C>T PASD1(NM_173493.2):c.1609C>T (p.R537W) - PASD1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.1777G>A r.(?) p.(Val593Ile) - likely benign g.150840994G>A g.151672522G>A PASD1(NM_173493.2):c.1777G>A (p.V593I) - PASD1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. - c.1874A>T r.(?) p.(Tyr625Phe) - VUS g.150841091A>T g.151672619A>T - - PASD1_000073 - PubMed: Masunaga 2022 - - Germline - - - - - Johan den Dunnen
?/. - c.1878A>C r.(?) p.(Gln626His) - VUS g.150841095A>C g.151672623A>C - - PASD1_000053 found once, nonrecurrent change PubMed: Tarpey 2009 - - Germline - 1/208 cases - - - Lucy Raymond
?/. - c.2035A>C r.(?) p.(Thr679Pro) - VUS g.150842518A>C g.151674046A>C PASD1(NM_173493.2):c.2035A>C (p.T679P, p.(Thr679Pro)) - PASD1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2035A>C r.(?) p.(Thr679Pro) - likely benign g.150842518A>C - PASD1(NM_173493.2):c.2035A>C (p.T679P, p.(Thr679Pro)) - PASD1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2047C>T r.(?) p.(Leu683=) - likely benign g.150842530C>T g.151674058C>T PASD1(NM_173493.2):c.2047C>T (p.L683=) - PASD1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2147C>T r.(?) p.(Thr716Ile) - likely benign g.150842630C>T g.151674158C>T PASD1(NM_173493.2):c.2147C>T (p.(Thr716Ile)) - PASD1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. - c.2206C>T r.(?) p.(Pro736Ser) - likely benign g.150844499C>T g.151676027C>T PASD1(NM_173493.2):c.2206C>T (p.P736S) - PASD1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2244C>G r.(?) p.(Tyr748Ter) - VUS g.150844537C>G g.151676065C>G PASD1(NM_173493.2):c.2244C>G (p.Y748*) - PASD1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.2260A>T r.(?) p.(Arg754Ter) - VUS g.150844553A>T g.151676081A>T PASD1(NM_173493.2):c.2260A>T (p.R754*) - PASD1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. - c.2273A>G r.(?) p.(Gln758Arg) - likely benign g.150844566A>G - PASD1(NM_173493.2):c.2273A>G (p.Q758R) - PASD1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. - c.*87G>A r.(=) p.(=) - VUS g.150844702G>A g.151676230G>A - - PASD1_000004 - - - - Germline - - - - - Yu Sun
?/. - c.*87G>A r.(=) p.(=) - VUS g.150844702G>A g.151676230G>A - - PASD1_000004 - - - - Germline - - - - - Yu Sun
?/. - c.*123_*126del r.(=) p.(=) - VUS g.150844738_150844741del g.151676266_151676269del - - PASD1_000016 - - - - Germline - - - - - Yu Sun
?/. - c.*123_*126del r.(=) p.(=) - VUS g.150844738_150844741del g.151676266_151676269del - - PASD1_000016 - - - - Germline - - - - - Yu Sun
?/. - c.*126_*129del r.(=) p.(=) - VUS g.150844741_150844744del g.151676269_151676272del - - PASD1_000009 - - - - Germline - - - - - Yu Sun
?/. - c.*126_*129del r.(=) p.(=) - VUS g.150844741_150844744del g.151676269_151676272del - - PASD1_000009 - - - - Germline - - - - - Yu Sun
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.