Unique variants in the PYROXD1 gene

Information The variants shown are described using the NM_024854.3 transcript reference sequence.

69 entries on 1 page. Showing entries 1 - 69.
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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     
+/., +?/. 4 3i c.285+1G>A r.166_285del, r.spl p.?, p.Ile56_His95del - likely pathogenic, pathogenic (recessive) g.21598401G>A g.21445467G>A - - PYROXD1_000007 combination of variants not reported PubMed: O'Grady 2016, PubMed: Topf 2020 ClinVar-372278 rs369083786 Germline yes 4/1001 cases - - - Johan den Dunnen
+/. 2 4i c.414+1G>A r.286_414del p.Cys96_Gln138del - pathogenic (recessive) g.21602626G>A g.21449692G>A - - PYROXD1_000010 reduced RNA expression PubMed: O'Grady 2016 - - Germline yes - - - - Johan den Dunnen
+/., +?/. 13 - c.464A>G r.(?), r.464a>g p.(Asn155Ser), p.Asn155Ser ACMG pathogenic, pathogenic (recessive) g.21605064A>G g.21452130A>G - - PYROXD1_000009 1 more item PubMed: Lee 2019, PubMed: O'Grady 2016, PubMed: Saha 2018, Journal: Saha 2018, PubMed: Sainio 2019 ClinVar-000746660.1 rs781565158 Germline yes - - - - Johan den Dunnen, Andreas Laner
+/. 1 - c.1061A>G r.(?) p.(Tyr354Cys) - pathogenic (recessive) g.21615741A>G g.21462807A>G - - PYROXD1_000012 - PubMed: Sainio 2019 - - Germline - - - - - Johan den Dunnen
+/. 2 - c.1116G>C r.(?) p.(Gln372His) - pathogenic (recessive) g.21615796G>C g.21462862G>C - - PYROXD1_000008 - PubMed: O'Grady 2016 - - Germline yes - - - - Johan den Dunnen
+/. 1 - c.1160_1163dup r.(?) p.(Lys388Asnfs*14) - pathogenic (recessive) g.21620458_21620461dup g.21467524_21467527dup - - PYROXD1_000011 - PubMed: O'Grady 2016 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1250del r.(?) p.(Tyr417LeufsTer14) - VUS g.21620548del g.21467614del PYROXD1(NM_024854.3):c.1250del (p.?) - PYROXD1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1253A>T r.(?) p.(Lys418Met) - VUS g.21620551A>T g.21467617A>T PYROXD1(NM_024854.3):c.1253A>T (p.?) - PYROXD1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.*1445C>T r.(=) p.(=) - NA g.21623133C>T - chr12_21623133_C_T - PYROXD1_000032 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.*1447T>C r.(=) p.(=) - NA g.21623135T>C - chr12_21623135_T_C - PYROXD1_000033 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.*1451C>T r.(=) p.(=) - NA g.21623139C>T - chr12_21623139_C_T - PYROXD1_000034 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/53461 controls, 4/60466 cases - - - BRIDGES consortium
?/. 1 - c.*1452G>C r.(=) p.(=) - NA g.21623140G>C - chr12_21623140_G_C - PYROXD1_000035 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.*1468G>C r.(=) p.(=) - NA g.21623156G>C - chr12_21623156_G_C - PYROXD1_000036 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.*1483G>A r.(=) p.(=) - NA g.21623171G>A - chr12_21623171_G_A - PYROXD1_000037 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.*1484A>C r.(=) p.(=) - NA g.21623172A>C - chr12_21623172_A_C - PYROXD1_000038 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.*1492T>C r.(=) p.(=) - NA g.21623180T>C - chr12_21623180_T_C - PYROXD1_000039 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 2 - c.*1495T>G r.(=) p.(=) - NA g.21623183T>G - chr12_21623183_T_G - PYROXD1_000040 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases, 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.*1507G>A r.(=) p.(=) - NA g.21623195G>A - chr12_21623195_G_A - PYROXD1_000041 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 2 - c.*1513T>C r.(=) p.(=) - NA g.21623201T>C - chr12_21623201_T_C - PYROXD1_000042 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.*1514T>C r.(=) p.(=) - NA g.21623202T>C - chr12_21623202_T_C - PYROXD1_000043 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.*1517T>C r.(=) p.(=) - NA g.21623205T>C - chr12_21623205_T_C - PYROXD1_000044 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.*1519T>C r.(=) p.(=) - NA g.21623207T>C - chr12_21623207_T_C - PYROXD1_000045 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.*1531G>C r.(=) p.(=) - VUS g.21623219G>C - RECQL(NM_002907.4):c.1859C>G (p.S620*) - PYROXD1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.*1541C>T r.(=) p.(=) - NA g.21623229C>T - chr12_21623229_C_T - PYROXD1_000046 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/53461 controls, 3/60466 cases - - - BRIDGES consortium
?/. 1 - c.*1546A>C r.(=) p.(=) - NA g.21623234A>C - chr12_21623234_A_C - PYROXD1_000047 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.*1552T>C r.(=) p.(=) - NA g.21623240T>C - chr12_21623240_T_C - PYROXD1_000048 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.*1555T>C r.(=) p.(=) - NA g.21623243T>C - chr12_21623243_T_C - PYROXD1_000049 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.*1576G>A r.(=) p.(=) - NA g.21623264G>A - chr12_21623264_G_A - PYROXD1_000050 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
-?/. 1 - c.*1592C>G r.(=) p.(=) - likely benign g.21623280C>G g.21470346C>G RECQL(NM_002907.3):c.1798G>C (p.(Ala600Pro)) - PYROXD1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*1596del r.(?) p.(=) - likely benign g.21623284del g.21470350del RECQL(NM_002907.3):c.1798-4delG (p.?) - PYROXD1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*1605_*1612dup r.(=) p.(=) - likely benign g.21623293_21623300dup g.21470359_21470366dup RECQL(NM_002907.3):c.1798-5_1798-4insTTTTTTTT (p.?) - PYROXD1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*1606_*1612dup r.(=) p.(=) - likely benign g.21623294_21623300dup g.21470360_21470366dup RECQL(NM_002907.3):c.1798-5_1798-4insTTTTTTT (p.?) - PYROXD1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*1608_*1612dup r.(=) p.(=) - likely benign g.21623296_21623300dup g.21470362_21470366dup RECQL(NM_002907.3):c.1798-5_1798-4insTTTTT (p.?) - PYROXD1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*1609_*1612dup r.(=) p.(=) - likely benign g.21623297_21623300dup g.21470363_21470366dup RECQL(NM_002907.3):c.1798-5_1798-4insTTTT (p.?) - PYROXD1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.*1610_*1612dup r.(=) p.(=) - likely benign g.21623298_21623300dup g.21470364_21470366dup RECQL(NM_002907.3):c.1798-5[4]T (p.?) - PYROXD1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 2 - c.*1612del r.(?) p.(=) - benign, likely benign g.21623300del g.21470366del RECQL(NM_002907.3):c.1798-5delT (p.?), RECQL(NM_002907.4):c.1798-5delT - PYROXD1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 2 - c.*2217T>C r.(=) p.(=) - NA g.21623905T>C - chr12_21623905_T_C - PYROXD1_000051 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 7/53461 controls, 7/60466 cases - - - BRIDGES consortium
?/. 2 - c.*2219A>G r.(=) p.(=) - NA g.21623907A>G - chr12_21623907_A_G - PYROXD1_000052 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.*2220A>G r.(=) p.(=) - NA g.21623908A>G - chr12_21623908_A_G - PYROXD1_000053 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.*2231G>A r.(=) p.(=) - NA g.21623919G>A - chr12_21623919_G_A - PYROXD1_000054 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.*2232T>A r.(=) p.(=) - NA g.21623920T>A - chr12_21623920_T_A - PYROXD1_000055 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.*2232T>C r.(=) p.(=) - NA g.21623920T>C - chr12_21623920_T_C - PYROXD1_000056 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.*2234G>A r.(=) p.(=) - NA g.21623922G>A - chr12_21623922_G_A - PYROXD1_000057 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.*2243_*2244dup r.(=) p.(=) - NA g.21623931_21623932dup - chr12_21623929_T_TCA - PYROXD1_000058 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 2 - c.*2249A>T r.(=) p.(=) - NA g.21623937A>T - chr12_21623937_A_T - PYROXD1_000059 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases, 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.*2258G>C r.(=) p.(=) - NA g.21623946G>C - chr12_21623946_G_C - PYROXD1_000060 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.*2261T>A r.(=) p.(=) - NA g.21623949T>A - chr12_21623949_T_A - PYROXD1_000061 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.*2269A>T r.(=) p.(=) - NA g.21623957A>T - chr12_21623957_A_T - PYROXD1_000062 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.*2270T>C r.(=) p.(=) - NA g.21623958T>C - chr12_21623958_T_C - PYROXD1_000063 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 3/60466 cases - - - BRIDGES consortium
?/. 2 - c.*2271T>C r.(=) p.(=) - NA g.21623959T>C - chr12_21623959_T_C - PYROXD1_000064 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.*2272G>T r.(=) p.(=) - NA g.21623960G>T - chr12_21623960_G_T - PYROXD1_000065 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls, 4/60466 cases - - - BRIDGES consortium
?/. 1 - c.*2279A>G r.(=) p.(=) - NA g.21623967A>G - chr12_21623967_A_G - PYROXD1_000067 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.*2279del r.(=) p.(=) - NA g.21623967del - chr12_21623965_GA_G - PYROXD1_000066 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/60466 cases - - - BRIDGES consortium
?/. 2 - c.*2280_*2281delinsAG r.(=) p.(=) - NA g.21623968_21623969delinsAG - chr12_21623968_GA_AG - PYROXD1_000068 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases, 5/53461 controls - - - BRIDGES consortium
?/. 1 - c.*2291G>A r.(=) p.(=) - NA g.21623979G>A - chr12_21623979_G_A - PYROXD1_000069 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.*2294C>T r.(=) p.(=) - NA g.21623982C>T - chr12_21623982_C_T - PYROXD1_000070 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.*2297A>G r.(=) p.(=) - NA g.21623985A>G - chr12_21623985_A_G - PYROXD1_000071 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.*2301T>C r.(=) p.(=) - NA g.21623989T>C - chr12_21623989_T_C - PYROXD1_000072 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 1 - c.*2309G>A r.(=) p.(=) - NA g.21623997G>A - chr12_21623997_G_A - PYROXD1_000073 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 4/60466 cases - - - BRIDGES consortium
?/. 2 - c.*2316T>C r.(=) p.(=) - NA g.21624004T>C - chr12_21624004_T_C - PYROXD1_000074 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 7/53461 controls, 7/60466 cases - - - BRIDGES consortium
?/. 1 - c.*2318G>A r.(=) p.(=) - NA g.21624006G>A - chr12_21624006_G_A - PYROXD1_000075 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 2/53461 controls - - - BRIDGES consortium
?/. 1 - c.*2325C>G r.(=) p.(=) - NA g.21624013C>G - chr12_21624013_C_G - PYROXD1_000076 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/60466 cases - - - BRIDGES consortium
?/. 2 - c.*2333C>T r.(=) p.(=) - NA g.21624021C>T - chr12_21624021_C_T - PYROXD1_000077 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 3/53461 controls, 3/60466 cases - - - BRIDGES consortium
?/. 2 - c.*2335_*2336del r.(=) p.(=) - NA g.21624023_21624024del - chr12_21624021_CTG_C - PYROXD1_000078 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls, 2/60466 cases - - - BRIDGES consortium
?/. 1 - c.*2338G>C r.(=) p.(=) - NA g.21624026G>C - chr12_21624026_G_C - PYROXD1_000079 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
?/. 1 - c.*2341T>G r.(=) p.(=) - NA g.21624029T>G - chr12_21624029_T_G - PYROXD1_000080 1 more item PubMed: Dorling 2021, Journal: Dorling 2021 - - Germline - 1/53461 controls - - - BRIDGES consortium
-?/. 1 - c.*2858C>G r.(=) p.(=) - likely benign g.21624546C>G g.21471612C>G RECQL(NM_002907.4):c.1483G>C (p.D495H) - RECQL_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*6734T>C r.(=) p.(=) - VUS g.21628422T>C g.21475488T>C RECQL(NM_002907.4):c.1196A>G (p.Y399C) - RECQL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.*6759T>C r.(=) p.(=) - VUS g.21628447T>C g.21475513T>C RECQL(NM_002907.4):c.1171A>G (p.M391V) - PYROXD1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
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