Full data view for gene EPX

Information The variants shown are described using the NM_000502.4 transcript reference sequence.

45 entries on 1 page. Showing entries 1 - 45.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

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     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-/. - c.120A>G r.(?) p.(Ile40Met) Unknown - benign g.56270442A>G g.58193081A>G EPX(NM_000502.5):c.120A>G (p.I40M) - EPX_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.181C>T r.(?) p.(Arg61Trp) Unknown - VUS g.56270742C>T g.58193381C>T EPX(NM_000502.5):c.181C>T (p.R61W) - EPX_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.332C>T r.(?) p.(Pro111Leu) Unknown - VUS g.56270893C>T g.58193532C>T EPX(NM_000502.5):c.332C>T (p.P111L) - EPX_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.347-15T>C r.(=) p.(=) Unknown - benign g.56271060T>C g.58193699T>C EPX(NM_000502.5):c.347-15T>C - EPX_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.366G>C r.(?) p.(Gln122His) Unknown - benign g.56271094G>C g.58193733G>C EPX(NM_000502.5):c.366G>C (p.Q122H) - EPX_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.660A>G r.(?) p.(Arg220=) Unknown - benign g.56272390A>G g.58195029A>G EPX(NM_000502.5):c.660A>G (p.R220=) - EPX_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.801+1G>A r.spl? p.? Unknown - VUS g.56272532G>A g.58195171G>A EPX(NM_000502.5):c.801+1G>A - EPX_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.857G>A r.(?) p.(Arg286His) Parent #1 - pathogenic g.56274355G>A g.58196994G>A - - EPX_000011 1 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs121434566 Germline - 1/2794 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 1 Mohammed Faruq
?/. - c.1291T>A r.(?) p.(Tyr431Asn) Unknown - VUS g.56276909T>A g.58199548T>A EPX(NM_000502.5):c.1291T>A (p.Y431N) - EPX_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1933C>T r.(?) p.(Arg645*) Unknown - VUS g.56280666C>T g.58203305C>T EPX(NM_000502.4):c.1933C>T (p.(Arg645Ter)) - EPX_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.1942G>A r.(?) p.(Asp648Asn) Parent #1 - pathogenic g.56280675G>A g.58203314G>A - - EPX_000012 5 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs141055426 Germline - 5/2795 individuals - 0 - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - 5 Mohammed Faruq
-?/. - c.2040T>G r.(?) p.(Gly680=) Unknown - likely benign g.56281676T>G g.58204315T>G EPX(NM_000502.5):c.2040T>G (p.G680=) - MKS1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1004del r.(?) p.(=) Unknown - benign g.56283089del g.58205728del MKS1(NM_017777.3):c.*351delG - MKS1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*1364C>G r.(=) p.(=) Unknown - benign g.56283449C>G g.58206088C>G MKS1(NM_017777.3):c.1671G>C (p.L557=) - MKS1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*1423G>A r.(=) p.(=) Unknown - VUS g.56283508G>A g.58206147G>A MKS1(NM_017777.3):c.1612C>T (p.R538C) - MKS1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1434C>T r.(=) p.(=) Unknown - VUS g.56283519C>T g.58206158C>T MKS1(NM_017777.3):c.1601G>A (p.R534Q) - MKS1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1603C>A r.(=) p.(=) Unknown - VUS g.56283688C>A g.58206327C>A MKS1(NM_017777.3):c.1544G>T (p.R515L) - MKS1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*1603C>A r.(=) p.(=) Unknown - likely benign g.56283688C>A g.58206327C>A MKS1(NM_017777.3):c.1544G>T (p.R515L) - MKS1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1642G>C r.(=) p.(=) Unknown - VUS g.56283727G>C g.58206366G>C MKS1(NM_001165927.1):c.1475C>G (p.(Ser492Trp)) - MKS1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*1649T>C r.(=) p.(=) Unknown - benign g.56283734T>C g.58206373T>C MKS1(NM_017777.3):c.1498A>G (p.M500V) - MKS1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.*1649T>C r.(=) p.(=) Unknown - VUS g.56283734T>C g.58206373T>C MKS1(NM_017777.3):c.1498A>G (p.M500V) - MKS1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*1762A>C r.(=) p.(=) Unknown - VUS g.56283847A>C g.58206486A>C MKS1(NM_017777.3):c.1469T>G (p.L490W) - MKS1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1795C>T r.(=) p.(=) Unknown - benign g.56283880C>T g.58206519C>T MKS1(NM_017777.3):c.1436G>A (p.R479H) - MKS1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*1795C>T r.(=) p.(=) Unknown - benign g.56283880C>T g.58206519C>T MKS1(NM_017777.3):c.1436G>A (p.R479H) - MKS1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*1796G>A r.(=) p.(=) Unknown - benign g.56283881G>A g.58206520G>A MKS1(NM_017777.3):c.1435C>T (p.R479C) - MKS1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*1796G>A r.(=) p.(=) Unknown - likely benign g.56283881G>A g.58206520G>A MKS1(NM_017777.3):c.1435C>T (p.R479C) - MKS1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*1816C>T r.(=) p.(=) Unknown - benign g.56283901C>T g.58206540C>T MKS1(NM_017777.3):c.1415G>A (p.R472H) - MKS1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.*2360C>T r.(=) p.(=) Unknown - pathogenic g.56284445C>T g.58207084C>T MKS1(NM_017777.3):c.1407+1G>A - MKS1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*2380C>T r.(=) p.(=) Unknown - likely benign g.56284465C>T g.58207104C>T MKS1(NM_001165927.1):c.1358G>A (p.(Arg453Gln)), MKS1(NM_017777.3):c.1388G>A (p.R463Q) - MKS1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2380C>T r.(=) p.(=) Unknown - likely benign g.56284465C>T g.58207104C>T MKS1(NM_001165927.1):c.1358G>A (p.(Arg453Gln)), MKS1(NM_017777.3):c.1388G>A (p.R463Q) - MKS1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*2380C>T r.(=) p.(=) Unknown - likely benign g.56284465C>T g.58207104C>T MKS1(NM_001165927.1):c.1358G>A (p.(Arg453Gln)), MKS1(NM_017777.3):c.1388G>A (p.R463Q) - MKS1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*2380C>T r.(=) p.(=) Unknown - benign g.56284465C>T g.58207104C>T MKS1(NM_001165927.1):c.1358G>A (p.(Arg453Gln)), MKS1(NM_017777.3):c.1388G>A (p.R463Q) - MKS1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2419A>G r.(=) p.(=) Unknown - VUS g.56284504A>G g.58207143A>G MKS1(NM_017777.3):c.1349T>C (p.I450T) - MKS1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*2481C>T r.(=) p.(=) Unknown - likely benign g.56284566C>T g.58207205C>T MKS1(NM_017777.3):c.1287G>A (p.L429=) - MKS1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2482A>T r.(=) p.(=) Unknown - VUS g.56284567A>T g.58207206A>T MKS1(NM_017777.3):c.1286T>A (p.L429Q) - MKS1_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*3131G>A r.(=) p.(=) Unknown - benign g.56285216G>A g.58207855G>A MKS1(NM_017777.3):c.1273+39C>T - MKS1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*3159C>T r.(=) p.(=) Unknown - benign g.56285244C>T g.58207883C>T MKS1(NM_017777.3):c.1273+11G>A - MKS1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*3159C>T r.(=) p.(=) Unknown - benign g.56285244C>T g.58207883C>T MKS1(NM_017777.3):c.1273+11G>A - MKS1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*3247C>A r.(=) p.(=) Unknown - benign g.56285332C>A g.58207971C>A MKS1(NM_017777.3):c.1196G>T (p.C399F) - MKS1_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*3247C>G r.(=) p.(=) Unknown - VUS g.56285332C>G g.58207971C>G - - MKS1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.*3262C>T r.(=) p.(=) Unknown - pathogenic g.56285347C>T g.58207986C>T MKS1(NM_017777.3):c.1181G>A (p.W394*) - MKS1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*3398T>C r.(=) p.(=) Unknown - likely benign g.56285483T>C g.58208122T>C MKS1(NM_017777.3):c.1148A>G (p.H383R) - MKS1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.*3418C>T r.(=) p.(=) Unknown - benign g.56285503C>T g.58208142C>T MKS1(NM_017777.3):c.1128G>A (p.T376=) - MKS1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.*3418C>T r.(=) p.(=) Unknown - likely benign g.56285503C>T g.58208142C>T MKS1(NM_017777.3):c.1128G>A (p.T376=) - MKS1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*3420_*3424dup r.(=) p.(=) Unknown - pathogenic g.56285505_56285509dup g.58208144_58208148dup MKS1(NM_017777.3):c.1122_1126dupATTCA (p.T376Nfs*56) - MKS1_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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