Full data view for gene NDRG1

This database is one of the gene variant databases from the "Leiden Muscular Dystrophy pages" (LMDp)
Information The variants shown are described using the NM_006096.3 transcript reference sequence.

58 entries on 1 page. Showing entries 1 - 58.
Legend   How to query  

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.-18-2_-18-1del r.spl? p.? Unknown - likely benign g.134296573_134296574del g.133284330_133284331del NDRG1(NM_001135242.2):c.-18-2_-18-1delAG - NDRG1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.31G>A r.(?) p.(Ala11Thr) Unknown - likely benign g.134296524C>T - NDRG1(NM_001135242.2):c.31G>A (p.A11T) - NDRG1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.31G>A r.(?) p.(Ala11Thr) Unknown - likely benign g.134296524C>T - NDRG1(NM_001135242.2):c.31G>A (p.A11T) - NDRG1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.64-6T>C r.(=) p.(=) Parent #1 - benign g.134292516A>G g.133280273A>G - - NDRG1_000003 - - - rs2272653 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.64-6T>C r.(=) p.(=) Unknown - benign g.134292516A>G g.133280273A>G NDRG1(NM_001135242.2):c.64-6T>C, NDRG1(NM_001258433.2):c.-74-6T>C - NDRG1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.64-6T>C r.(=) p.(=) Unknown - benign g.134292516A>G g.133280273A>G NDRG1(NM_001135242.2):c.64-6T>C, NDRG1(NM_001258433.2):c.-74-6T>C - NDRG1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.72C>T r.(?) p.(=) Unknown - likely benign g.134292502G>A - NDRG1(NM_001135242.2):c.72C>T (p.T24=) - NDRG1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.122A>G r.(?) p.(His41Arg) Unknown - VUS g.134276873T>C - NDRG1(NM_001135242.2):c.122A>G (p.H41R) - NDRG1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.135C>T r.(?) p.(His45=) Unknown - likely benign g.134276860G>A g.133264617G>A NDRG1(NM_001135242.2):c.135C>T (p.H45=) - NDRG1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.158A>G r.(?) p.(Lys53Arg) Unknown - VUS g.134276837T>C - NDRG1(NM_001135242.2):c.158A>G (p.K53R) - NDRG1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.167G>A r.(?) p.(Arg56Gln) Unknown - VUS g.134276828C>T - NDRG1(NM_001135242.2):c.167G>A (p.R56Q) - NDRG1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.199A>G r.(?) p.(Met67Val) Unknown - benign g.134276796T>C g.133264553T>C NDRG1(NM_001258432.2):c.1A>G (p.M1?) - NDRG1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.306C>T r.(?) p.(Gly102=) Unknown - benign g.134274310G>A g.133262067G>A NDRG1(NM_001135242.2):c.306C>T (p.G102=) - NDRG1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.321C>T r.(?) p.(=) Unknown - likely benign g.134274295G>A - NDRG1(NM_001135242.2):c.321C>T (p.P107=) - NDRG1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.327-48C>G r.(=) p.(=) Parent #1 - benign g.134271521G>C g.133259278G>C - - NDRG1_000002 - - - rs2233326 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
?/. - c.331A>C r.(?) p.(Met111Leu) Unknown - VUS g.134271469T>G g.133259226T>G NDRG1(NM_001135242.2):c.331A>C (p.M111L) - NDRG1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.389+13G>C r.(=) p.(=) Unknown - likely benign g.134271398C>G - NDRG1(NM_001135242.2):c.389+13G>C - NDRG1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 7 c.437T>C r.(?) p.(Leu146Pro) Both (homozygous) - likely pathogenic g.134270622A>G g.133258379A>G - - NDRG1_000010 - - - - Germline yes - - - - DNA SEQ-NG peripheral blood cell - CMT4D ? - - M yes China Chinese ? - - - 1 Zhi-ying Wu
+/. - c.442C>T r.(?) p.(Arg148*) Both (homozygous) - pathogenic g.134270617G>A g.133258374G>A - - NDRG1_000001 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
+/. - c.442C>T r.(?) p.(Arg148Ter) Unknown - pathogenic g.134270617G>A g.133258374G>A NDRG1(NM_001135242.2):c.442C>T (p.R148*) - NDRG1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.442C>T r.(?) p.(Arg148*) Both (homozygous) - pathogenic g.134270617G>A g.133258374G>A - - NDRG1_000001 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat77 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F yes (Germany) - - - - - 1 Johan den Dunnen
+/. - c.442C>T r.(?) p.(Arg148*) Both (homozygous) - pathogenic g.134270617G>A g.133258374G>A - - NDRG1_000001 - PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline yes 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat78 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients M - (Germany) - - - - - 1 Johan den Dunnen
+/. - c.442C>T r.(?) p.(Arg148Ter) Unknown - pathogenic g.134270617G>A g.133258374G>A NDRG1(NM_001135242.2):c.442C>T (p.R148*) - NDRG1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.448G>A r.(?) p.(Ala150Thr) Unknown - VUS g.134270611C>T - NDRG1(NM_001135242.2):c.448G>A (p.A150T) - NDRG1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.450+20T>C r.(=) p.(=) Unknown - likely benign g.134270589A>G - NDRG1(NM_001135242.2):c.450+20T>C - NDRG1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.450+139_450+140del r.(=) p.(=) Parent #1 - VUS g.134270487_134270488del g.133258244_133258245del - - NDRG1_000007 - - - - Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.450+152C>T r.(=) p.(=) Parent #1 - benign g.134270457G>A g.133258214G>A - - NDRG1_000006 - - - rs10113567 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.507G>A r.(?) p.(Ala169=) Unknown - benign g.134269050C>T g.133256807C>T NDRG1(NM_001135242.2):c.507G>A (p.A169=) - NDRG1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.538-1G>A r.spl? p.? Unknown - pathogenic g.134266839C>T g.133254596C>T NDRG1(NM_001135242.2):c.538-1G>A - NDRG1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.563C>T r.(?) p.(Pro188Leu) Unknown - VUS g.134266813G>A g.133254570G>A NDRG1(NM_001135242.2):c.563C>T (p.P188L) - NDRG1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.595-17C>T r.(=) p.(=) Unknown - likely benign g.134262803G>A g.133250560G>A NDRG1(NM_001135242.2):c.595-17C>T - NDRG1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.613G>A r.(?) p.(Val205Met) Unknown - VUS g.134262768C>T - NDRG1(NM_001135242.2):c.613G>A (p.V205M) - NDRG1_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.686A>G r.(?) p.(Asn229Ser) Unknown - likely benign g.134262695T>C g.133250452T>C NDRG1(NM_001135242.2):c.686A>G (p.N229S) - NDRG1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.699-16C>G r.(=) p.(=) Unknown - benign g.134261030G>C - NDRG1(NM_001135242.2):c.699-16C>G - NDRG1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 11 c.701G>A r.(?) p.(Arg234Gln) Both (homozygous) - likely pathogenic g.134261012C>T g.133248769C>T - - NDRG1_000009 - - - rs755968590 Germline ? - - - - DNA SEQ-NG peripheral blood cell - CMT4D ? - - M yes China Chinese ? - - - 1 Zhi-ying Wu
?/. - c.703C>T r.(?) p.(Arg235Cys) Unknown - VUS g.134261010G>A g.133248767G>A NDRG1(NM_001135242.2):c.703C>T (p.R235C) - NDRG1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.731C>G r.(?) p.(Pro244Arg) Unknown - VUS g.134260982G>C - NDRG1(NM_006096.3):c.731C>G (p.(Pro244Arg)) - NDRG1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.755+10T>C r.(=) p.(=) Parent #1 - benign g.134260948A>G g.133248705A>G - - NDRG1_000005 - - - rs2233336 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.755+10T>C r.(=) p.(=) Unknown - benign g.134260948A>G g.133248705A>G NDRG1(NM_001135242.2):c.755+10T>C - NDRG1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.756-5C>T r.(=) p.(=) Parent #1 - benign g.134260174G>A g.133247931G>A - - NDRG1_000004 - - - rs2227262 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.756-5C>T r.spl? p.? Unknown - benign g.134260174G>A g.133247931G>A NDRG1(NM_001135242.2):c.756-5C>T - NDRG1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.779_780insTGCACCTGT r.(?) p.(Gly260_Asp261insAlaProVal) Unknown - VUS g.134260145_134260146insACAGGTGCA g.133247902_133247903insACAGGTGCA - - NDRG1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.789G>A r.(?) p.(Ser263=) Unknown - likely benign g.134260136C>T g.133247893C>T NDRG1(NM_001135242.2):c.789G>A (p.S263=) - NDRG1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.789G>A r.(?) p.(Ser263=) Unknown - likely benign g.134260136C>T g.133247893C>T NDRG1(NM_001135242.2):c.789G>A (p.S263=) - NDRG1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.856-19G>A r.(=) p.(=) Unknown - likely benign g.134256652C>T g.133244409C>T NDRG1(NM_001135242.2):c.856-19G>A - NDRG1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.879G>A r.(?) p.(Pro293=) Unknown - likely benign g.134256610C>T - NDRG1(NM_001135242.2):c.879G>A (p.P293=) - NDRG1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.891+39C>A r.(=) p.(=) Parent #1 - benign g.134256559G>T g.133244316G>T - - NDRG1_000008 - - - rs2233341 Germline - - - - - DNA SEQ - - - - - - - - Germany - - - - - 1 Andreas Laner
-/. - c.892-5C>T r.spl? p.? Unknown - benign g.134254322G>A g.133242079G>A NDRG1(NM_001135242.2):c.892-5C>T - NDRG1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.894G>A r.(?) p.(=) Unknown - likely benign g.134254315C>T - NDRG1(NM_001135242.2):c.894G>A (p.P298=) - NDRG1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.899A>G r.(?) p.(Lys300Arg) Unknown - VUS g.134254310T>C g.133242067T>C NDRG1(NM_001135242.2):c.899A>G (p.K300R) - NDRG1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.944-13C>T r.(=) p.(=) Unknown - likely benign g.134251375G>A - NDRG1(NM_001135242.2):c.944-13C>T - NDRG1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.944-1G>T r.spl? p.? Unknown - pathogenic g.134251363C>A g.133239120C>A - - NDRG1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.948del r.(?) p.(Ser317Argfs*4) Both (homozygous) ACMG likely pathogenic g.134251360del g.133239117del 948delC - NDRG1_000017 ACMG pvs1, pm2 PubMed: Dohrn 2017, Journal: Dohrn 2017 - - Germline - 1/612 cases - - - DNA SEQ, SEQ-NG - targeted multigene panel CMT 28902413-Pat79 PubMed: Dohrn 2017, Journal: Dohrn 2017 analysis 612 patients F - (Germany) - - - - - 1 Johan den Dunnen
-?/. - c.973C>A r.(?) p.(Arg325=) Unknown - likely benign g.134251333G>T g.133239090G>T NDRG1(NM_001135242.2):c.973C>A (p.R325=) - NDRG1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.973C>T r.(?) p.(Arg325Trp) Unknown - VUS g.134251333G>A g.133239090G>A NDRG1(NM_001135242.2):c.973C>T (p.R325W) - NDRG1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1088G>A r.(?) p.(Arg363His) Unknown - VUS g.134251218C>T - NDRG1(NM_001135242.2):c.1088G>A (p.R363H) - NDRG1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1092G>A r.(?) p.(Ser364=) Unknown - likely benign g.134251214C>T g.133238971C>T NDRG1(NM_001135242.2):c.1092G>A (p.S364=) - NDRG1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1155C>T r.(?) p.(Ala385=) Unknown - likely benign g.134251151G>A - NDRG1(NM_001135242.2):c.1155C>T (p.A385=) - NDRG1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query  


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