Full data view for gene PODXL

Information The variants shown are described using the NM_001018111.2 transcript reference sequence.

27 entries on 1 page. Showing entries 1 - 27.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

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DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

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VIP     

Methylation     

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Disease     

ID_report     

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Panel size     

Owner     
./. - c.-4332841_*10189006del r.0? p.0? Unknown - pathogenic g.121000064_135573959del - - - IMPDH1_000003 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.30G>A r.(?) p.(Leu10=) Unknown - likely benign g.131241089C>T - PODXL(NM_005397.4):c.30G>A (p.L10=) - PODXL_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.78_89del r.(?) p.(Pro28_Ser31del) Unknown - benign g.131241043_131241054del - PODXL(NM_005397.4):c.78_89delGTCGCCGTCGCC (p.P28_S31del) - PODXL_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.84_89del r.(?) p.(Pro30_Ser31del) Unknown - benign g.131241049_131241054del - PODXL(NM_005397.4):c.84_89delGTCGCC (p.P30_S31del) - PODXL_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.84_89del r.(?) p.(Pro30_Ser31del) Unknown - benign g.131241049_131241054del - PODXL(NM_001018111.3):c.84_89delGTCGCC (p.P30_S31del), PODXL(NM_005397.4):c.84_89delGTCGCC (p.P30_S31del) - PODXL_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.84_89dup r.(?) p.(Pro30_Ser31dup) Unknown - benign g.131241049_131241054dup g.131556290_131556295dup PODXL(NM_001018111.2):c.72_77dupGTCGCC (p.(Pro26_Ser27insSerPro)), PODXL(NM_001018111.2):c.84_89dupGTCGCC (p.P30_S31dup), PODXL(NM_005397.4):c.84_8... - PODXL_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.84_89dup r.(?) p.(Pro30_Ser31dup) Unknown - benign g.131241049_131241054dup - PODXL(NM_001018111.2):c.72_77dupGTCGCC (p.(Pro26_Ser27insSerPro)), PODXL(NM_001018111.2):c.84_89dupGTCGCC (p.P30_S31dup), PODXL(NM_005397.4):c.84_8... - PODXL_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.84_89dup r.(?) p.(Pro30_Ser31dup) Unknown - likely benign g.131241049_131241054dup - PODXL(NM_001018111.2):c.72_77dupGTCGCC (p.(Pro26_Ser27insSerPro)), PODXL(NM_001018111.2):c.84_89dupGTCGCC (p.P30_S31dup), PODXL(NM_005397.4):c.84_8... - PODXL_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.164T>G r.(?) p.(Ile55Ser) Unknown - likely benign g.131196129A>C - PODXL(NM_005397.4):c.164T>G (p.I55S) - PODXL_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.216C>T r.(?) p.(=) Unknown - likely benign g.131196077G>A - PODXL(NM_005397.4):c.216C>T (p.N72=) - PODXL_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.707-9_707-5del r.spl? p.? Unknown - benign g.131195117_131195121del g.131510358_131510362del PODXL(NM_001018111.3):c.707-9_707-5delTTTTT - PODXL_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.707-8_707-5del r.spl? p.? Unknown - benign g.131195118_131195121del g.131510359_131510362del PODXL(NM_001018111.3):c.707-8_707-5delTTTT - PODXL_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.803-2A>G r.spl? p.? Unknown - VUS g.131194346T>C - PODXL(NM_001018111.2):c.803-2A>G - PODXL_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.818C>T r.(?) p.(Ser273Leu) Unknown - likely benign g.131194329G>A - PODXL(NM_005397.4):c.722C>T (p.S241L) - PODXL_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.981C>T r.(?) p.(Tyr327=) Unknown - likely benign g.131194166G>A - PODXL(NM_005397.4):c.885C>T (p.Y295=) - PODXL_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1011T>C r.(?) p.(His337=) Unknown - benign g.131194136A>G - PODXL(NM_005397.4):c.915T>C (p.H305=) - PODXL_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1031G>C r.(?) p.(Cys344Ser) Unknown - VUS g.131193780C>G g.131509021C>G - - PODXL_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1053A>G r.(?) p.(=) Unknown - likely benign g.131193758T>C - PODXL(NM_005397.4):c.957A>G (p.T319=) - PODXL_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1072G>A r.(?) p.(Val358Ile) Unknown - benign g.131193739C>T g.131508980C>T - - PODXL_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1101+2T>C r.spl? p.? Both (homozygous) ACMG likely pathogenic (recessive) g.131193708A>G g.131508949A>G - - PODXL_000022 - - - - Germline yes - - - - DNA SEQ-NG Blood - NPHS - - - F yes Egypt - - - - - 1 Mohamed A. Elmonem
-/. - c.1101+15G>T r.(=) p.(=) Unknown - benign g.131193695C>A g.131508936C>A - - PODXL_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1169C>T r.(?) p.(Pro390Leu) Unknown - likely benign g.131191418G>A - PODXL(NM_005397.4):c.1073C>T (p.P358L) - PODXL_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1185_1186del r.(?) p.(Cys395Trpfs*23) Unknown - pathogenic g.131191402_131191403del - PODXL(NM_005397.4):c.1089_1090delCG (p.C363Wfs*23) - PODXL_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1186G>A r.(?) p.(Gly396Ser) Unknown - likely benign g.131191401C>T - PODXL(NM_005397.4):c.1090G>A (p.G364S) - PODXL_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1299T>G r.(?) p.(Asp433Glu) Unknown - likely benign g.131191031A>C - PODXL(NM_005397.4):c.1203T>G (p.D401E) - PODXL_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1480-17C>T r.(=) p.(=) Unknown - likely benign g.131189284G>A - PODXL(NM_005397.4):c.1384-17C>T - PODXL_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1539G>A r.(?) p.(Leu513=) Unknown - likely benign g.131189208C>T - PODXL(NM_005397.4):c.1443G>A (p.L481=) - PODXL_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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