Full data view for gene DCTN1

Information The variants shown are described using the NM_004082.4 transcript reference sequence.

120 entries on 2 pages. Showing entries 1 - 100.
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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.-11829G>C r.(?) p.(=) Unknown - benign g.74618993C>G - DCTN1(NR_033935.1):n.222G>C, DCTN1-AS1(NR_024463.2):n.472-128C>G - DCTN1-AS1_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.18G>A r.(?) p.(Arg6=) Unknown - likely benign g.74607147C>T g.74380020C>T DCTN1(NM_004082.4):c.18G>A (p.R6=) - DCTN1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.35C>T r.(?) p.(Thr12Met) Unknown - VUS g.74605371G>A g.74378244G>A - - DCTN1_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.40A>G r.(?) p.(Ser14Gly) Unknown - VUS g.74605366T>C g.74378239T>C DCTN1(NM_001135040.2):c.40A>G (p.(Ser14Gly)) - DCTN1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. 2 c.43G>A r.(?) p.(Gly15Ser) Unknown - VUS g.74605363C>T g.74378236C>T - - DCTN1_000019 - PubMed: Farrer 2009 - - Unknown ? 1/475 cases - 0 - DNA SEQ - - PD - - - ? ? Germany - - 0 - - 1 Johan den Dunnen
-?/. 2 c.45C>T r.(=) p.(=) Unknown - likely benign g.74605361G>A g.74378234G>A G15G - DCTN1_000018 - PubMed: Farrer 2009 - - Unknown ? 1/949 controls - 0 - DNA SEQ - - Healthy/Control - PubMed: Farrer 2009 - ? ? United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-?/. - c.60G>A r.(?) p.(Ala20=) Unknown - likely benign g.74605346C>T g.74378219C>T DCTN1(NM_004082.4):c.60G>A (p.A20=) - DCTN1_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.175G>A r.(?) p.(Gly59Ser) Parent #1 - pathogenic g.74605231C>T g.74378104C>T - - DCTN1_000005 not in 400 control chromosomes PubMed: Puls 2003, OMIM:var0001 - rs121909342 Germline yes - - 0 - DNA SEQ - - HMN-1 - PubMed: Puls 2003 4-generation family, 12 affecteds (8F, 4M) - no United States - - 0 - - 12 Johan den Dunnen
+/. - c.175G>A r.(?) p.(Gly59Ser) Unknown - pathogenic g.74605231C>T g.74378104C>T DCTN1(NM_004082.4):c.175G>A (p.G59S) - DCTN1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
+/. - c.175G>A r.(?) p.(Gly59Ser) Unknown - pathogenic (dominant) g.74605231C>T g.74378104C>T - - DCTN1_000005 - PubMed: Antoniadi 2015 - rs121909342 Germline - - - 0 - DNA SEQ - 56-gene neuropathy panel HMN - PubMed: Antoniadi 2015 analysis 448 inherited peripheral neuropathy cases - - United Kingdom (Great Britain) - - 0 - - 1 Johan den Dunnen
-?/. 2 c.177C>T r.(=) p.(=) Unknown - likely benign g.74605229G>A g.74378102G>A - - DCTN1_000017 - PubMed: Farrer 2009 - - Unknown ? 1/949 controls - 0 - DNA SEQ - - Healthy/Control - PubMed: Farrer 2009 - ? ? Ireland - - 0 - - 1 Johan den Dunnen
?/. - c.196A>G r.(?) p.(Lys66Glu) Unknown - VUS g.74605210T>C g.74378083T>C - - DCTN1_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 2 c.211G>A r.(?) p.(Gly71Arg) Parent #1 - pathogenic g.74605195C>T g.74378068C>T - - DCTN1_000006 not in 2848 control chromosomes PubMed: Farrer 2009, OMIM:var0006 - rs72466485 Germline yes - - 0 - DNA SEQ - - Perry - PubMed: Farrer 2009 3-generation family, 3 affecteds (2F, M) - ? Turkey - - 0 - - 3 Johan den Dunnen
+/. 2 c.211G>A r.(?) p.(Gly71Arg) Parent #1 - pathogenic g.74605195C>T g.74378068C>T - - DCTN1_000006 not in 2848 control chromosomes PubMed: Farrer 2009, OMIM:var0006 - rs72466485 Germline yes - - 0 - DNA SEQ - - Perry - PubMed: Farrer 2009 5-generation family, 11 affecteds (2F, 9M) - ? Canada - - 0 - - 11 Johan den Dunnen
+/. 2 c.212G>A r.(?) p.(Gly71Glu) Parent #1 - pathogenic g.74605194C>T g.74378067C>T - - DCTN1_000007 not in 2848 control chromosomes PubMed: Farrer 2009 - rs72466485 Germline yes - - 0 - DNA SEQ - - Perry - PubMed: Farrer 2009 3-generation family, 7 affecteds (5F, 2M) - ? France - - 0 - - 7 Johan den Dunnen
+/. 2 c.212G>C r.(?) p.(Gly71Ala) Parent #1 - pathogenic g.74605194C>G g.74378067C>G - - DCTN1_000008 not in 2848 control chromosomes PubMed: Farrer 2009 - rs72466485 Germline yes - - 0 - DNA SEQ - - Perry - PubMed: Farrer 2009 3-generation family, 3 affecteds (2F, M) - ? United States Hawaii - 0 - - 3 Johan den Dunnen
+/. 2 c.212G>C r.(?) p.(Gly71Ala) Parent #1 - pathogenic g.74605194C>G g.74378067C>G - - DCTN1_000008 not in 2848 control chromosomes PubMed: Farrer 2009 - rs72466485 Germline yes - - 0 - DNA SEQ - - Perry - PubMed: Farrer 2009 3-generation family, 6 affecteds (3F, 3M) - ? United Kingdom (Great Britain) - - 0 - - 6 Johan den Dunnen
+/. 2 c.212G>C r.(?) p.(Gly71Ala) Parent #1 - pathogenic g.74605194C>G g.74378067C>G - - DCTN1_000008 not in 2848 control chromosomes PubMed: Farrer 2009 - rs72466485 Germline yes - - 0 - DNA SEQ - - Perry - PubMed: Farrer 2009 3-generation family, 8 affecteds (F, 7M) - ? Japan - - 0 - - 8 Johan den Dunnen
+/. 2 c.214A>C r.(?) p.(Thr72Pro) Parent #1 - pathogenic g.74605192T>G g.74378065T>G - - DCTN1_000009 not in 2848 control chromosomes PubMed: Farrer 2009 - rs72466486 Germline yes - - 0 - DNA SEQ - - Perry - PubMed: Farrer 2009 4-generation family, 5 affecteds (2F, 3M) - ? United States - - 0 - - 5 Johan den Dunnen
+/. 2 c.221A>C r.(?) p.(Gln74Pro) Parent #1 - pathogenic g.74605185T>G g.74378058T>G - - DCTN1_000010 not in 2848 control chromosomes PubMed: Farrer 2009, OMIM:var0007 - rs72466487 Germline yes - - 0 - DNA SEQ - - Perry - PubMed: Farrer 2009 3-generation family, 4 affecteds (3F, M) - ? Japan - - 0 - - 4 Johan den Dunnen
-?/. 2 c.260T>C r.(?) p.(Ile87Thr) Unknown - likely benign g.74605146A>G g.74378019A>G - - DCTN1_000016 - PubMed: Farrer 2009 - - Unknown ? 1/949 controls - 0 - DNA SEQ - - Healthy/Control - PubMed: Farrer 2009 - - - United States - - 0 - - 1 Johan den Dunnen
+?/. - c.279+2T>C r.spl p.? Unknown - VUS g.74605125A>G g.74377998A>G - - DCTN1_000084 - PubMed: Zhu 2015 - - De novo - - - 0 - DNA SEQ, SEQ-NG - trio WES ? Trio98 PubMed: Zhu 2015 - M - United States - - 0 - - 1 Johan den Dunnen
-?/. - c.279+6C>G r.(=) p.(=) Unknown - likely benign g.74605121G>C g.74377994G>C DCTN1(NM_004082.4):c.279+6C>G - DCTN1_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. 2i c.280-42A>G r.(=) p.(=) Parent #1 - benign g.74604895T>C g.74377768T>C - - DCTN1_000020 - PubMed: Farrer 2009 - rs3815241 Germline - - - 0 - DNA SEQ - - Perry - PubMed: Farrer 2009 3-generation family, 4 affecteds (3F, M) - ? Japan - - 0 - - 4 Johan den Dunnen
-/. 2i c.280-42A>G r.(=) p.(=) Parent #1 - benign g.74604895T>C g.74377768T>C - - DCTN1_000020 - PubMed: Farrer 2009 - rs3815241 Germline - - - 0 - DNA SEQ - - Perry - PubMed: Farrer 2009 4-generation family, 5 affecteds (2F, 3M) - ? United States - - 0 - - 5 Johan den Dunnen
-/. - c.280-42A>G r.(=) p.(=) Parent #1 - benign g.74604895T>C g.74377768T>C - - DCTN1_000020 - - - rs3815241 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
?/. - c.280-3C>T r.spl? p.? Unknown - VUS g.74604856G>A g.74377729G>A DCTN1(NM_004082.4):c.280-3C>T - DCTN1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.359-80G>A r.(=) p.(=) Parent #1 - benign g.74604673C>T g.74377546C>T - - DCTN1_000021 - - - rs3213672 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-?/. - c.420G>A r.(?) p.(Pro140=) Unknown - likely benign g.74601462C>T g.74374335C>T DCTN1(NM_004082.4):c.420G>A (p.P140=) - DCTN1_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.449C>G r.(?) p.(Pro150Arg) Unknown - VUS g.74600059G>C - DCTN1(NM_004082.4):c.449C>G (p.P150R) - DCTN1_000092 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.574G>A r.(?) p.(Ala192Thr) Unknown - VUS g.74598735C>T g.74371608C>T DCTN1(NM_004082.4):c.574G>A (p.A192T) - DCTN1_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.586A>G r.(?) p.(Ile196Val) Unknown - benign g.74598723T>C g.74371596T>C DCTN1(NM_004082.4):c.586A>G (p.I196V) - DCTN1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.586A>G r.(?) p.(Ile196Val) Unknown - likely benign g.74598723T>C g.74371596T>C DCTN1(NM_004082.4):c.586A>G (p.I196V) - DCTN1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.586A>G r.(?) p.(Ile196Val) Unknown - likely benign g.74598723T>C g.74371596T>C DCTN1(NM_004082.4):c.586A>G (p.I196V) - DCTN1_000067 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.674G>A r.(?) p.(Arg225Gln) Unknown - VUS g.74598275C>T g.74371148C>T DCTN1(NM_004082.4):c.674G>A (p.R225Q) - DCTN1_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.837G>A r.(?) p.(Ala279=) Unknown - likely benign g.74598112C>T - DCTN1(NM_004082.4):c.837G>A (p.A279=) - DCTN1_000091 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.859C>A r.(?) p.(Leu287Met) Unknown - benign g.74597937G>T g.74370810G>T DCTN1(NM_004082.4):c.859C>A (p.L287M) - DCTN1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.859C>A r.(?) p.(Leu287Met) Unknown - benign g.74597937G>T g.74370810G>T DCTN1(NM_004082.4):c.859C>A (p.L287M) - DCTN1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.999C>T r.(?) p.(Asp333=) Unknown - likely benign g.74597797G>A g.74370670G>A DCTN1(NM_004082.4):c.999C>T (p.D333=) - DCTN1_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1062T>C r.(?) p.(Ala354=) Unknown - likely benign g.74597658A>G - DCTN1(NM_004082.4):c.1062T>C (p.A354=) - DCTN1_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1095G>A r.(?) p.(Glu365=) Unknown - likely benign g.74597625C>T g.74370498C>T DCTN1(NM_004082.4):c.1095G>A (p.E365=) - DCTN1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1242G>A r.(?) p.(Glu414=) Unknown - likely benign g.74597358C>T g.74370231C>T DCTN1(NM_004082.4):c.1242G>A (p.E414=) - DCTN1_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1360G>C r.(?) p.(Val454Leu) Unknown - VUS g.74597124C>G g.74369997C>G DCTN1(NM_004082.4):c.1360G>C (p.V454L) - DCTN1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1360G>C r.(?) p.(Val454Leu) Unknown - VUS g.74597124C>G g.74369997C>G DCTN1(NM_004082.4):c.1360G>C (p.V454L) - DCTN1_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1373G>A r.(?) p.(Arg458Lys) Unknown - VUS g.74597111C>T - DCTN1(NM_004082.4):c.1373G>A (p.R458K) - DCTN1_000090 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1392+10G>A r.(=) p.(=) Unknown - likely benign g.74597082C>T g.74369955C>T DCTN1(NM_004082.4):c.1392+10G>A - DCTN1_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1393-6T>C r.(=) p.(=) Unknown - likely benign g.74596624A>G - DCTN1(NM_004082.4):c.1393-6T>C - DCTN1_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1436G>A r.(?) p.(Arg479His) Unknown - VUS g.74596575C>T - DCTN1(NM_004082.4):c.1436G>A (p.R479H) - DCTN1_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1470C>T r.(?) p.(Asp490=) Unknown - likely benign g.74596541G>A g.74369414G>A DCTN1(NM_004082.4):c.1470C>T (p.D490=) - DCTN1_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1480G>A r.(?) p.(Ala494Thr) Unknown - VUS g.74596531C>T g.74369404C>T DCTN1(NM_004082.4):c.1480G>A (p.A494T) - DCTN1_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1481C>T r.(?) p.(Ala494Val) Unknown - VUS g.74596530G>A g.74369403G>A DCTN1(NM_001135040.2):c.1421C>T (p.(Ala474Val)) - DCTN1_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 13 c.1484G>A r.(?) p.(Arg495Gln) Unknown - likely benign g.74596527C>T g.74369400C>T G2284A - DCTN1_000015 found in 5/250 ALS patients, 3/150 controls PubMed: Munch 2004 - - Germline - 8/400 individuals - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1484G>A r.(?) p.(Arg495Gln) Unknown - benign g.74596527C>T g.74369400C>T DCTN1(NM_004082.4):c.1484G>A (p.R495Q) - DCTN1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.1484G>A r.(?) p.(Arg495Gln) Unknown - likely benign g.74596527C>T g.74369400C>T DCTN1(NM_004082.4):c.1484G>A (p.R495Q) - DCTN1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1484G>A r.(?) p.(Arg495Gln) Unknown - benign g.74596527C>T g.74369400C>T DCTN1(NM_004082.4):c.1484G>A (p.R495Q) - DCTN1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1504C>T r.(?) p.(Arg502Cys) Unknown - VUS g.74596507G>A g.74369380G>A DCTN1(NM_004082.4):c.1504C>T (p.R502C) - DCTN1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1573G>A r.(?) p.(Ala525Thr) Unknown - VUS g.74596438C>T - DCTN1(NM_004082.4):c.1573G>A (p.A525T) - DCTN1_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1584+3A>G r.spl? p.? Unknown - VUS g.74596424T>C g.74369297T>C DCTN1(NM_004082.4):c.1584+3A>G - DCTN1_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1585-10C>A r.(=) p.(=) Unknown - likely benign g.74596351G>T g.74369224G>T DCTN1(NM_004082.4):c.1585-10C>A - DCTN1_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1585-4C>G r.spl? p.? Unknown - likely benign g.74596345G>C g.74369218G>C DCTN1(NM_004082.4):c.1585-4C>G - DCTN1_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1595G>A r.(?) p.(Arg532Gln) Unknown - VUS g.74596331C>T g.74369204C>T DCTN1(NM_004082.4):c.1595G>A (p.R532Q) - DCTN1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1595G>A r.(?) p.(Arg532Gln) Unknown - VUS g.74596331C>T g.74369204C>T DCTN1(NM_004082.4):c.1595G>A (p.R532Q) - DCTN1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1605A>G r.(?) p.(Thr535=) Unknown - benign g.74596321T>C g.74369194T>C DCTN1(NM_004082.4):c.1605A>G (p.T535=) - DCTN1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.1605A>G r.(?) p.(Thr535=) Unknown - benign g.74596321T>C g.74369194T>C DCTN1(NM_004082.4):c.1605A>G (p.T535=) - DCTN1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.1667A>G r.(?) p.(Lys556Arg) Unknown - VUS g.74596259T>C - DCTN1(NM_004082.4):c.1667A>G (p.K556R) - DCTN1_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1701+56dup r.(=) p.(=) Parent #1 - benign g.74596169dup g.74369042dup - - DCTN1_000023 - - - rs3216580 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
+/. 16 c.1712T>C r.(?) p.(Met571Thr) Unknown - pathogenic g.74595997A>G g.74368870A>G T2512C (M571T) - DCTN1_000004 not in 300 control chromosomes PubMed: Munch 2004, OMIM:var0003 - rs121909343 Unknown ? 1/250 cases - 0 - DNA HD, SEQ - - ALS-1 - PubMed: Munch 2004 patient with affected sister (not screened) F ? Germany - - 0 - - 1 Johan den Dunnen
?/. - c.1742C>A r.(?) p.(Ala581Asp) Unknown - VUS g.74595967G>T g.74368840G>T DCTN1(NM_004082.4):c.1742C>A (p.A581D) - DCTN1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1854+20T>A r.(=) p.(=) Unknown - likely benign g.74595835A>T g.74368708A>T DCTN1(NM_004082.4):c.1854+20T>A - DCTN1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2005C>T r.(?) p.(Arg669Cys) Unknown - VUS g.74595108G>A g.74367981G>A - - DCTN1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2019C>T r.(?) p.(Ala673=) Unknown - likely benign g.74594988G>A g.74367861G>A DCTN1(NM_004082.4):c.2019C>T (p.A673=) - DCTN1_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2112A>G r.(?) p.(Glu704=) Unknown - likely benign g.74594895T>C g.74367768T>C DCTN1(NM_004082.4):c.2112A>G (p.E704=) - DCTN1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2185-6C>T r.(=) p.(=) Unknown - likely benign g.74594553G>A g.74367426G>A DCTN1(NM_004082.4):c.2185-6C>T - DCTN1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2209G>A r.(?) p.(Glu737Lys) Unknown - VUS g.74594523C>T g.74367396C>T DCTN1(NM_004082.4):c.2209G>A (p.E737K) - DCTN1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2213A>G r.(?) p.(Gln738Arg) Unknown - VUS g.74594519T>C g.74367392T>C DCTN1(NM_004082.4):c.2213A>G (p.Q738R) - DCTN1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2258C>T r.(?) p.(Thr753Met) Unknown - VUS g.74594230G>A g.74367103G>A DCTN1(NM_004082.4):c.2258C>T (p.T753M) - DCTN1_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2297G>A r.(?) p.(Arg766Gln) Unknown - VUS g.74594191C>T g.74367064C>T DCTN1(NM_004082.4):c.2297G>A (p.R766Q) - DCTN1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 21 c.2353C>T r.(?) p.(Arg785Trp) Maternal (confirmed) - pathogenic g.74594023G>A g.74366896G>A C3153T (R785W) - DCTN1_000011 not in 300 control chromosomes PubMed: Munch 2004, OMIM:var0004 - rs121909344 Germline ? 1/250 cases - 0 - DNA HD, SEQ - - ALS-1 - PubMed: Munch 2004 4-generation family, 2 affected brothers, 2 unaffected carriers (mother (deceased 99y), sister (76y)) M no - - - 0 - - 4 Johan den Dunnen
?/. - c.2353C>T r.(?) p.(Arg785Trp) Unknown - VUS g.74594023G>A g.74366896G>A DCTN1(NM_001135040.2):c.2293C>T (p.(Arg765Trp)), DCTN1(NM_004082.4):c.2353C>T (p.R785W) - DCTN1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2353C>T r.(?) p.(Arg785Trp) Unknown - VUS g.74594023G>A g.74366896G>A DCTN1(NM_001135040.2):c.2293C>T (p.(Arg765Trp)), DCTN1(NM_004082.4):c.2353C>T (p.R785W) - DCTN1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2432C>G r.(?) p.(Pro811Arg) Unknown - likely benign g.74593944G>C g.74366817G>C DCTN1(NM_004082.4):c.2432C>G (p.P811R) - DCTN1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2448A>G r.(=) p.(=) Parent #1 - benign g.74593928T>C g.74366801T>C - - DCTN1_000022 - - - rs1130484 Germline - - - 0 - DNA SEQ - - - - - - - - Germany - - 0 - - 1 Andreas Laner
-/. - c.2448A>G r.(?) p.(Ala816=) Unknown - benign g.74593928T>C g.74366801T>C DCTN1(NM_004082.4):c.2448A>G (p.A816=) - DCTN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-?/. - c.2448A>G r.(?) p.(Ala816=) Unknown - likely benign g.74593928T>C g.74366801T>C DCTN1(NM_004082.4):c.2448A>G (p.A816=) - DCTN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
-/. - c.2448A>G r.(?) p.(Ala816=) Unknown - benign g.74593928T>C g.74366801T>C DCTN1(NM_004082.4):c.2448A>G (p.A816=) - DCTN1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2633A>G r.(?) p.(Tyr878Cys) Unknown - VUS g.74593498T>C - DCTN1(NM_004082.4):c.2633A>G (p.Y878C) - DCTN1_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2761-18C>T r.(=) p.(=) Unknown - likely benign g.74593163G>A g.74366036G>A DCTN1(NM_004082.4):c.2761-18C>T - DCTN1_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2779C>T r.(?) p.(Arg927Trp) Unknown - VUS g.74593127G>A g.74366000G>A - - DCTN1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
?/. - c.2969G>A r.(?) p.(Arg990His) Unknown - VUS g.74592702C>T - - - DCTN1_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 25 c.2989C>T r.(?) p.(Arg997Trp) Unknown - pathogenic g.74592682G>A g.74365555G>A - - DCTN1_000012 - PubMed: Takahashi 2008 - - Unknown ? - - 0 - DNA arraySEQ, SEQ - - ALS-1 - PubMed: Takahashi 2008 - M ? Japan - - 0 - - 1 Johan den Dunnen
-?/. - c.3123C>G r.(?) p.(Ser1041=) Unknown - likely benign g.74592275G>C g.74365148G>C DCTN1(NM_004082.4):c.3123C>G (p.S1041=) - DCTN1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3137A>G r.(?) p.(Glu1046Gly) Unknown - VUS g.74592261T>C - DCTN1(NM_004082.4):c.3137A>G (p.E1046G) - DCTN1_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3146G>A r.(?) p.(Arg1049Gln) Unknown - likely benign g.74592252C>T g.74365125C>T DCTN1(NM_004082.4):c.3146G>A (p.R1049Q) - DCTN1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3146G>A r.(?) p.(Arg1049Gln) Unknown - likely benign g.74592252C>T g.74365125C>T DCTN1(NM_004082.4):c.3146G>A (p.R1049Q) - DCTN1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3146G>A r.(?) p.(Arg1049Gln) Unknown - likely benign g.74592252C>T g.74365125C>T DCTN1(NM_004082.4):c.3146G>A (p.R1049Q) - DCTN1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3146G>A r.(?) p.(Arg1049Gln) Unknown - likely benign g.74592252C>T g.74365125C>T DCTN1(NM_004082.4):c.3146G>A (p.R1049Q) - DCTN1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3250C>T r.(?) p.(Pro1084Ser) Unknown - VUS g.74590516G>A - DCTN1(NM_004082.4):c.3250C>T (p.P1084S) - DCTN1_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 28 c.3302G>A r.(?) p.(Arg1101Lys) Parent #1 - pathogenic g.74590464C>T g.74363337C>T 4102G>A (R1101K) - DCTN1_000013 not in 500 control chromosomes PubMed: Munch 2005, OMIM:var0005 - rs121909345 Germline yes - - 0 - DNA SEQ - - ALS-1 - PubMed: Munch 2005 4-generation family, M no Germany - 58y 0 - - 2 Johan den Dunnen
+/. 28 c.3302G>A r.(?) p.(Arg1101Lys) Parent #1 - pathogenic g.74590464C>T g.74363337C>T - - DCTN1_000013 - PubMed: Munch 2005 - - Germline yes - - 0 - DNA SEQ - - FTD - PubMed: Munch 2005 brother of 16240349-FamPatIII3 M no Germany - >61y 0 - - 1 Johan den Dunnen
-?/. - c.3309C>T r.(?) p.(His1103=) Unknown - likely benign g.74590457G>A g.74363330G>A DCTN1(NM_004082.4):c.3309C>T (p.H1103=) - DCTN1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - - - - - - - - - - - - - - - - - - -
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This database is one of the ”Leiden Muscular Dystrophy pages” gene variant databases