Full data view for gene DND1

Information The variants shown are described using the NM_194249.2 transcript reference sequence.

40 entries on 1 page. Showing entries 1 - 40.
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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.-5664158_*16222354dup - - Unknown - pathogenic g.123828524_145717285dup - - - SIL1_000024 mosaicism, copy number 3 in 0.38 cells PubMed: DDDS 2015, Journal: DDDS 2015 - - Somatic - - - - - 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.-4408C>T r.(?) p.(=) Unknown - benign g.140057535G>A g.140677950G>A HARS1(NM_002109.6):c.588C>T (p.C196=) - HARS_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-4382G>A r.(?) p.(=) Unknown - benign g.140057509C>T g.140677924C>T HARS(NM_001258041.2):c.554G>A (p.G185D), HARS1(NM_002109.6):c.614G>A (p.G205D) - DND1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4382G>A r.(?) p.(=) Unknown - VUS g.140057509C>T g.140677924C>T HARS(NM_001258041.2):c.554G>A (p.G185D), HARS1(NM_002109.6):c.614G>A (p.G205D) - DND1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4382G>A r.(?) p.(=) Unknown - likely benign g.140057509C>T g.140677924C>T HARS(NM_001258041.2):c.554G>A (p.G185D), HARS1(NM_002109.6):c.614G>A (p.G205D) - DND1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4374C>T r.(?) p.(=) Unknown - likely benign g.140057501G>A - HARS1(NM_002109.6):c.622C>T (p.L208=) - DND1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4230A>G r.(?) p.(=) Unknown - likely benign g.140057357T>C - HARS1(NM_002109.6):c.631-19A>G - DND1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-4129T>C r.(?) p.(=) Unknown - likely benign g.140057256A>G g.140677671A>G HARS1(NM_002109.6):c.713T>C (p.V238A) - HARS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4129T>C r.(?) p.(=) Unknown - VUS g.140057256A>G g.140677671A>G HARS1(NM_002109.6):c.713T>C (p.V238A) - HARS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4129T>C r.(?) p.(=) Unknown - VUS g.140057256A>G - HARS1(NM_002109.6):c.713T>C (p.V238A) - HARS_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3895G>A r.(?) p.(=) Unknown - likely benign g.140057022C>T g.140677437C>T HARS1(NM_001258041.3):c.670-17G>A, HARS1(NM_002109.6):c.730-17G>A - DND1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3895G>A r.(?) p.(=) Unknown - likely benign g.140057022C>T - HARS1(NM_001258041.3):c.670-17G>A, HARS1(NM_002109.6):c.730-17G>A - DND1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3870G>C r.(?) p.(=) Unknown - VUS g.140056997C>G - HARS(NM_002109.4):c.738G>C (p.(Trp246Cys)) - DND1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3865A>T r.(?) p.(=) Unknown - VUS g.140056992T>A - HARS(NM_001258041.2):c.683A>T (p.E228V) - DND1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3808T>C r.(?) p.(=) Unknown - VUS g.140056935A>G - HARS1(NM_001258041.3):c.740T>C (p.I247T) - DND1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3564C>A r.(?) p.(=) Unknown - likely benign g.140056691G>T g.140677106G>T HARS(NM_002109.6):c.834C>A (p.S278=) - DND1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3495C>T r.(?) p.(=) Unknown - benign g.140056622G>A g.140677037G>A HARS1(NM_002109.6):c.903C>T (p.D301=) - DND1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3428G>A r.(?) p.(=) Unknown - benign g.140056555C>T g.140676970C>T HARS1(NM_002109.6):c.951+19G>A - DND1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3357C>A r.(?) p.(=) Unknown - VUS g.140056484G>T - HARS(NM_002109.6):c.952-3C>A - DND1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3250G>A r.(?) p.(=) Unknown - VUS g.140056377C>T g.140676792C>T HARS1(NM_002109.6):c.1056G>A (p.L352=) - HARS_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3179A>G r.(?) p.(=) Unknown - benign g.140056306T>C g.140676721T>C HARS1(NM_002109.6):c.1127A>G (p.K376R) - HARS_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3150G>T r.(?) p.(=) Unknown - VUS g.140056277C>A g.140676692C>A HARS(NM_002109.6):c.1156G>T (p.V386L) - DND1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-3111G>A r.(?) p.(=) Unknown - pathogenic g.140056238C>T g.140676653C>T HARS(NM_002109.6):c.1194+1G>A, HARS1(NM_002109.6):c.1194+1G>A - HARS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3111G>A r.(?) p.(=) Unknown - VUS g.140056238C>T - HARS(NM_002109.6):c.1194+1G>A, HARS1(NM_002109.6):c.1194+1G>A - HARS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3111G>A r.(?) p.(=) Unknown - VUS g.140056238C>T - HARS(NM_002109.6):c.1194+1G>A, HARS1(NM_002109.6):c.1194+1G>A - HARS_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1590C>T r.(?) p.(=) Unknown - benign g.140054717G>A - HARS1(NM_001258041.3):c.1136C>T (p.A379V), HARS1(NM_002109.6):c.1196C>T (p.A399V) - HARS_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1590C>T r.(?) p.(=) Unknown - benign g.140054717G>A - HARS1(NM_001258041.3):c.1136C>T (p.A379V), HARS1(NM_002109.6):c.1196C>T (p.A399V) - HARS_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1585G>A r.(?) p.(=) Unknown - likely benign g.140054712C>T g.140675127C>T HARS(NM_002109.6):c.1201G>A (p.E401K) - DND1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1525C>G r.(?) p.(=) Unknown - benign g.140054652G>C g.140675067G>C HARS1(NM_001258041.3):c.1201C>G (p.L401V) - DND1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1477A>G r.(?) p.(=) Unknown - VUS g.140054604T>C g.140675019T>C HARS1(NM_002109.6):c.1309A>G (p.K437E) - HARS_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-1150C>T r.(?) p.(=) Unknown - VUS g.140054277G>A g.140674692G>A HARS(NM_002109.6):c.1445C>T (p.T482M) - HARS_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-1149G>A r.(?) p.(=) Unknown - likely benign g.140054276C>T - HARS(NM_001258041.2):c.1386G>A (p.T462=) - DND1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1130G>A r.(?) p.(=) Unknown - benign g.140054257C>T g.140674672C>T HARS1(NM_002109.6):c.1458+7G>A - HARS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-1130G>A r.(?) p.(=) Unknown - benign g.140054257C>T g.140674672C>T HARS1(NM_002109.6):c.1458+7G>A - HARS_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-759G>A r.(?) p.(=) Unknown - VUS g.140053886C>T - HARS1(NM_002109.6):c.1486G>A (p.E496K) - DND1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.293G>T r.(?) p.(Arg98Leu) Unknown - VUS g.140052341C>A - DND1(NM_194249.2):c.293G>T (p.(Arg98Leu)) - DND1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.854G>A r.(?) p.(Trp285Ter) Unknown - likely benign g.140051086C>T g.140671501C>T DND1(NM_194249.2):c.854G>A (p.(Trp285Ter)) - DND1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1033G>A r.(?) p.(Ala345Thr) Unknown - likely benign g.140050907C>T g.140671322C>T DND1(NM_194249.2):c.1033G>A (p.(Ala345Thr)) - DND1_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1046C>G r.(?) p.(Thr349Ser) Unknown - likely benign g.140050894G>C g.140671309G>C DND1(NM_194249.2):c.1046C>G (p.(Thr349Ser)) - DND1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*2685_*2688del r.(=) p.(=) Unknown - VUS g.140048191_140048194del g.140668606_140668609del WDR55(NM_017706.4):c.381-7_381-4del (p.?) - WDR55_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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