Unique variants in the DYNC1H1 gene

Information The variants shown are described using the NM_001376.4 transcript reference sequence.

287 entries on 3 pages. Showing entries 1 - 100.
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Effect     

Reported     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

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     

Owner     
-/. 2 - c.-5A>G r.(?) p.(=) - benign g.102431024A>G g.101964687A>G DYNC1H1(NM_001376.4):c.-5A>G - DYNC1H1_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 2 - c.46T>C r.(?) p.(Leu16=) - benign g.102431074T>C g.101964737T>C DYNC1H1(NM_001376.4):c.46T>C (p.L16=) - DYNC1H1_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-?/. 1 - c.78C>T r.(?) p.(Asp26=) - likely benign g.102431106C>T g.101964769C>T DYNC1H1(NM_001376.4):c.78C>T (p.D26=) - DYNC1H1_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.161_172del r.(?) p.(Ala54_Glu57del) ACMG likely pathogenic (dominant) g.102431189_102431200del g.101964852_101964863del - - DYNC1H1_000307 ACMG PS2_MOD, PM4, PM2_SUP, PP2; confirmed de novo in trio-exome - - - De novo yes - - - - Andreas Laner
-?/. 1 - c.257-9G>A r.(=) p.(=) - likely benign g.102442040G>A g.101975703G>A DYNC1H1(NM_001376.4):c.257-9G>A - DYNC1H1_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.264C>T r.(?) p.(Val88=) - likely benign g.102442056C>T g.101975719C>T DYNC1H1(NM_001376.4):c.264C>T (p.V88=) - DYNC1H1_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.306C>T r.(?) p.(Asn102=) - benign g.102442098C>T - DYNC1H1(NM_001376.4):c.306C>T (p.N102=) - DYNC1H1_000269 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.318C>T r.(?) p.(Asp106=) - likely benign g.102442110C>T g.101975773C>T DYNC1H1(NM_001376.4):c.318C>T (p.D106=) - DYNC1H1_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 3 - c.345-10T>G r.(=) p.(=) - likely benign g.102445646T>G g.101979309T>G DYNC1H1(NM_001376.4):c.345-10T>G - DYNC1H1_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-?/. 1 - c.369C>T r.(?) p.(Pro123=) - likely benign g.102445680C>T g.101979343C>T DYNC1H1(NM_001376.4):c.369C>T (p.P123=) - DYNC1H1_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.418C>A r.(?) p.(Leu140Ile) - VUS g.102445729C>A g.101979392C>A - - DYNC1H1_000148 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.425A>C r.(?) p.(Glu142Ala) - VUS g.102445736A>C - DYNC1H1(NM_001376.4):c.425A>C (p.E142A) - DYNC1H1_000206 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
-?/. 1 - c.519-18T>C r.(=) p.(=) - likely benign g.102446038T>C - DYNC1H1(NM_001376.4):c.519-18T>C - DYNC1H1_000291 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.561A>G r.(?) p.(Ala187=) - likely benign g.102446098A>G g.101979761A>G DYNC1H1(NM_001376.4):c.561A>G (p.A187=) - DYNC1H1_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.574G>A r.(?) p.(Gly192Arg) - likely pathogenic g.102446111G>A g.101979774G>A - - DYNC1H1_000265 combination of variants not reported PubMed: Topf 2020 - - Germline - 1/1001 cases - - - Johan den Dunnen
+/. 1 - c.587T>G r.(?) p.(Leu196Trp) - pathogenic g.102446124T>G g.101979787T>G - - DYNC1H1_000308 - PubMed: Thomas 2022 - - De novo - - - - - Johan den Dunnen
+?/. 1 - c.592C>A r.(?) p.(Gln198Lys) - likely pathogenic (dominant) g.102446129C>A g.101979792C>A - - DYNC1H1_000242 AD, segregates with disease PubMed: Antoniadi 2015 - - Germline - - - - - Johan den Dunnen
-/. 3 - c.624G>A r.(?) p.(Pro208=) - benign g.102446161G>A g.101979824G>A DYNC1H1(NM_001376.4):c.624G>A (p.P208=) - DYNC1H1_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.668G>A r.(?) p.(Arg223His) - VUS g.102446205G>A g.101979868G>A DYNC1H1(NM_001376.4):c.668G>A (p.R223H) - DYNC1H1_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.738A>G r.(?) p.(Gln246=) - benign g.102446275A>G g.101979938A>G DYNC1H1(NM_001376.4):c.738A>G (p.Q246=) - DYNC1H1_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 3 - c.751C>T r.(?) p.(Arg251Cys) - pathogenic g.102446288C>T g.101979951C>T DYNC1H1(NM_001376.4):c.751C>T (p.R251C) - DYNC1H1_000109 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_VUmc, VKGL-NL_AMC
+/., +?/. 2 - c.752G>A r.(?) p.(Arg251His) - likely pathogenic (dominant), pathogenic g.102446289G>A g.101979952G>A - - DYNC1H1_000110 AD, segregates with disease, VKGL data sharing initiative Nederland PubMed: Antoniadi 2015 - - CLASSIFICATION record, Germline - - - - - Johan den Dunnen, VKGL-NL_Nijmegen
?/. 1 5 c.790C>G r.(?) p.(Arg264Gly) ACMG pathogenic (dominant) g.102446716C>G g.101980379C>G g.15299T>G - DYNC1H1_000289 - - - - De novo - - - - - Xiangjun Chen
?/. 1 - c.848G>A r.(?) p.(Arg283His) - VUS g.102446774G>A - - - DYNC1H1_000260 - PubMed: Cerino 2020 - - Germline - - - - - Mathieu Cerino
?/. 1 - c.851C>T r.(?) p.(Ala284Val) - VUS g.102446777C>T - - - DYNC1H1_000270 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/., ?/. 3 - c.874C>T r.(?) p.(Arg292Trp) - likely pathogenic, VUS g.102446800C>T g.101980463C>T DYNC1H1(NM_001376.4):c.874C>T (p.R292W) - DYNC1H1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_VUmc
+?/. 1 - c.926G>A r.(?) p.(Arg309His) - likely pathogenic (dominant) g.102446852G>A g.101980515G>A - - DYNC1H1_000205 - PubMed: Minardi 2020 - - De novo - - - - - Francesca Bisulli
?/. 1 - c.932A>G r.(?) p.(His311Arg) - VUS g.102446858A>G - DYNC1H1(NM_001376.4):c.932A>G (p.H311R) - DYNC1H1_000261 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 3 - c.962-15dup r.(=) p.(=) - benign, likely benign g.102449341dup g.101983004dup DYNC1H1(NM_001376.4):c.962-15_962-14insT, DYNC1H1(NM_001376.4):c.962-15dupT - DYNC1H1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_AMC
-?/. 1 - c.962-4A>G r.spl? p.? - likely benign g.102449352A>G - DYNC1H1(NM_001376.4):c.962-4A>G - DYNC1H1_000292 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1012G>A r.(?) p.(Asp338Asn) - likely pathogenic (dominant) g.102449406G>A g.101983069G>A - - DYNC1H1_000243 - PubMed: Antoniadi 2015 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.1103G>A r.(?) p.(Arg368Gln) - likely pathogenic g.102449497G>A - DYNC1H1(NM_001376.4):c.1103G>A (p.R368Q) - DYNC1H1_000255 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
+?/. 2 - c.1195A>G r.(?) p.(Arg399Gly) - likely pathogenic (dominant) g.102449589A>G g.101983252A>G - - DYNC1H1_000244 - PubMed: Antoniadi 2015 - - Germline - - - - - Johan den Dunnen
?/. 1 - c.1216T>C r.(?) p.(Tyr406His) - VUS g.102449610T>C g.101983273T>C DYNC1H1(NM_001376.4):c.1216T>C (p.Y406H) - DYNC1H1_000207 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.1292A>G r.(?) p.(Gln431Arg) - likely benign g.102449777A>G g.101983440A>G DYNC1H1(NM_001376.4):c.1292A>G (p.Q431R) - DYNC1H1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
?/. 1 - c.1352G>A r.(?) p.(Arg451His) - VUS g.102449837G>A g.101983500G>A DYNC1H1(NM_001376.4):c.1352G>A (p.R451H) - DYNC1H1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1385G>A r.(?) p.(Arg462His) - likely pathogenic g.102449870G>A g.101983533G>A DYNC1H1(NM_001376.4):c.1385G>A (p.(Arg462His)) - DYNC1H1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1461+17A>G r.(=) p.(=) - likely benign g.102449963A>G g.101983626A>G DYNC1H1(NM_001376.4):c.1461+17A>G - DYNC1H1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 8 c.1505C>T r.(?) p.(Pro502Leu) - VUS g.102452067C>T g.101985730C>T - - DYNC1H1_000285 - PubMed: Ganapathy 2019 - rs1435555404 Germline - - - - - Johan den Dunnen
?/. 1 - c.1678G>A r.(?) p.(Val560Met) - VUS g.102452240G>A g.101985903G>A DYNC1H1(NM_001376.4):c.1678G>A (p.V560M) - DYNC1H1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.1704T>C r.(?) p.(Leu568=) - likely benign g.102452266T>C g.101985929T>C DYNC1H1(NM_001376.4):c.1704T>C (p.L568=) - DYNC1H1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+/. 5 8 c.1792C>T r.(?) p.(Arg598Cys) ACMG pathogenic (dominant) g.102452354C>T g.101986017C>T g.21490C>T - DYNC1H1_000245 - PubMed: Antoniadi 2015, PubMed: Beecroft 2017, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020 - rs587780564 De novo, Germline, Germline/De novo (untested) - - - - - Johan den Dunnen, Xiangjun Chen
+?/. 1 - c.1793G>T r.(?) p.(Arg598Leu) - likely pathogenic g.102452355G>T - DYNC1H1(NM_001376.4):c.1793G>T (p.R598L) - DYNC1H1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
+?/. 1 - c.1809A>T r.(?) p.(Glu603Asp) - likely pathogenic (dominant) g.102452371A>T g.101986034A>T - - DYNC1H1_000246 AD, segregates with disease PubMed: Antoniadi 2015 - - Germline - - - - - Johan den Dunnen
+?/. 1 - c.1814A>G r.(?) p.(Gln605Arg) - likely pathogenic g.102452376A>G - - - DYNC1H1_000271 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.1834G>A r.(?) p.(Val612Met) - pathogenic g.102452396G>A g.101986059G>A - - DYNC1H1_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1843G>A r.(?) p.(Asp615Asn) - VUS g.102452405G>A g.101986068G>A DYNC1H1(NM_001376.4):c.1843G>A (p.D615N) - DYNC1H1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1901A>G r.(?) p.(Lys634Arg) - VUS g.102452463A>G g.101986126A>G DYNC1H1(NM_001376.4):c.1901A>G (p.(Lys634Arg)) - DYNC1H1_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1901del r.(?) p.(Lys634ArgfsTer2) - VUS g.102452463del g.101986126del DYNC1H1(NM_001376.4):c.1900delA (p.(Lys634ArgfsTer2)) - DYNC1H1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1963G>A r.(?) p.(Asp655Asn) - VUS g.102452525G>A g.101986188G>A - - DYNC1H1_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1973T>C r.(?) p.(Leu658Pro) - VUS g.102452535T>C - DYNC1H1(NM_001376.4):c.1973T>C (p.L658P) - DYNC1H1_000293 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2001T>C r.(?) p.(Asp667=) - benign g.102452563T>C g.101986226T>C DYNC1H1(NM_001376.4):c.2001T>C (p.D667=) - DYNC1H1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.2039A>G r.(?) p.(Gln680Arg) - VUS g.102452601A>G - - - DYNC1H1_000309 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 2 - c.2107G>A r.(?) p.(Ala703Thr) - VUS g.102452669G>A g.101986332G>A DYNC1H1(NM_001376.4):c.2107G>A (p.A703T) - DYNC1H1_000209 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen, VKGL-NL_AMC
-?/. 1 - c.2175T>C r.(?) p.(Val725=) - likely benign g.102452737T>C g.101986400T>C DYNC1H1(NM_001376.4):c.2175T>C (p.V725=) - DYNC1H1_000237 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 2 - c.2211T>A r.(?) p.(Val737=) - likely benign g.102452773T>A g.101986436T>A DYNC1H1(NM_001376.4):c.2211T>A (p.V737=) - DYNC1H1_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht, VKGL-NL_AMC
+?/. 1 - c.2275C>T r.(?) p.(Arg759Cys) - likely pathogenic g.102452837C>T g.101986500C>T - - DYNC1H1_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 3 - c.2327C>T r.(?), r.2327c>u p.(Pro776Leu) - likely pathogenic, pathogenic, pathogenic (dominant) g.102452889C>T g.101986552C>T DYNC1H1(NM_001376.4):c.2327C>T (p.P776L) - DYNC1H1_000022 carrier father mosaic, VKGL data sharing initiative Nederland PubMed: Beecroft 2017, PubMed: Ravenscroft 2020, Journal: Ravenscroft 2020, PubMed: Lee 2019 ClinVar-000746573.2 - CLASSIFICATION record, De novo, Germline - - - - - Johan den Dunnen, VKGL-NL_Utrecht
-?/. 1 - c.2373C>T r.(?) p.(Thr791=) - likely benign g.102452935C>T g.101986598C>T DYNC1H1(NM_001376.4):c.2373C>T (p.T791=) - DYNC1H1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.2511A>G r.(?) p.(Ala837=) - benign, likely benign g.102453073A>G g.101986736A>G DYNC1H1(NM_001376.4):c.2511A>G (p.A837=) - DYNC1H1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/. 2 - c.2625G>A r.(?) p.(Ser875=) - benign g.102453876G>A g.101987539G>A DYNC1H1(NM_001376.4):c.2625G>A (p.S875=) - DYNC1H1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
-/., -?/. 3 - c.2719-6C>T r.(=) p.(=) - benign, likely benign g.102455034C>T g.101988697C>T DYNC1H1(NM_001376.4):c.2719-6C>T - DYNC1H1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_AMC
-/. 1 - c.2721T>C r.(?) p.(Ile907=) - benign g.102455042T>C g.101988705T>C DYNC1H1(NM_001376.4):c.2721T>C (p.I907=) - DYNC1H1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.2768C>T r.(?) p.(Thr923Met) - VUS g.102455089C>T - DYNC1H1(NM_001376.4):c.2768C>T (p.T923M) - DYNC1H1_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.2868+5G>A r.spl? p.? - VUS g.102455194G>A g.101988857G>A - - DYNC1H1_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2875G>A r.(?) p.(Val959Ile) - VUS g.102457870G>A g.101991533G>A DYNC1H1(NM_001376.4):c.2875G>A (p.V959I) - DYNC1H1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.3015+18C>T r.(=) p.(=) - benign g.102458028C>T g.101991691C>T DYNC1H1(NM_001376.4):c.3015+18C>T - DYNC1H1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.3064G>T r.(?) p.(Ala1022Ser) - VUS g.102460569G>T g.101994232G>T - - DYNC1H1_000210 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.3079C>T r.(?) p.(Pro1027Ser) - likely benign g.102460584C>T g.101994247C>T - - DYNC1H1_000115 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.3185A>C r.(?) p.(Asp1062Ala) - VUS g.102461038A>C g.101994701A>C DYNC1H1(NM_001376.4):c.3185A>C (p.D1062A) - DYNC1H1_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3187A>G r.(?) p.(Met1063Val) - VUS g.102461040A>G g.101994703A>G DYNC1H1(NM_001376.4):c.3187A>G (p.(Met1063Val)) - DYNC1H1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3189G>A r.(?) p.(Met1063Ile) - VUS g.102461042G>A - - - DYNC1H1_000257 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 13 c.3217G>A r.(?) p.(Gly1073Arg) ACMG VUS g.102461070G>A - - - DYNC1H1_000267 ACMG: PM2, PP3: class 3 - - - Germline ? - - - - Andreas Laner
+/. 1 - c.3278T>C r.(?) p.(Phe1093Ser) ACMG pathogenic (dominant) g.102461131T>C g.101994794T>C - - DYNC1H1_000253 - PubMed: Helbig 2016 - - De novo - - - - - Johan den Dunnen
?/. 1 - c.3359A>G r.(?) p.(Tyr1120Cys) - VUS g.102461348A>G g.101995011A>G DYNC1H1(NM_001376.4):c.3359A>G (p.Y1120C) - DYNC1H1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3395G>T r.(?) p.(Gly1132Val) - VUS g.102461384G>T g.101995047G>T - - DYNC1H1_000116 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 14 c.3419C>T r.(?) p.(Thr1140Met) - VUS g.102461408C>T g.101995071C>T - - DYNC1H1_000001 - - - - Germline - - - - - Ying Zhang
+?/. 1 - c.3500T>A r.(?) p.(Val1167Glu) - likely pathogenic (dominant) g.102461573T>A g.101995236T>A - - DYNC1H1_000247 - PubMed: Antoniadi 2015 - - De novo - - - - - Johan den Dunnen
-/. 3 - c.3600A>G r.(?) p.(Gln1200=) - benign g.102463407A>G g.101997070A>G DYNC1H1(NM_001376.4):c.3600A>G (p.Q1200=) - DYNC1H1_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
+?/. 1 - c.3606C>A r.(?) p.(Phe1202Leu) - likely pathogenic (dominant) g.102463413C>A g.101997076C>A - - DYNC1H1_000248 AD, segregates with disease PubMed: Antoniadi 2015 - - Germline - - - - - Johan den Dunnen
-?/. 1 - c.3680G>A r.(?) p.(Arg1227Gln) - likely benign g.102463487G>A g.101997150G>A - - DYNC1H1_000117 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.3759C>T r.(?) p.(Arg1253=) - likely benign g.102463566C>T - DYNC1H1(NM_001376.4):c.3759C>T (p.R1253=) - DYNC1H1_000294 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.3789G>A r.(?) p.(Lys1263=) - likely benign g.102463596G>A g.101997259G>A DYNC1H1(NM_001376.4):c.3789G>A (p.K1263=) - DYNC1H1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3807C>T r.(?) p.(Gly1269=) - VUS g.102466328C>T g.101999991C>T DYNC1H1(NM_001376.4):c.3807C>T (p.G1269=) - DYNC1H1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.3844A>G r.(?) p.(Ile1282Val) - VUS g.102466365A>G g.102000028A>G - - DYNC1H1_000118 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.3854G>T r.(?) p.(Gly1285Val) - likely benign g.102466375G>T g.102000038G>T - - DYNC1H1_000158 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/., -?/. 3 - c.3909G>A r.(?) p.(Ala1303=) - benign, likely benign g.102466430G>A g.102000093G>A DYNC1H1(NM_001376.4):c.3909G>A (p.A1303=) - DYNC1H1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen, VKGL-NL_AMC
?/. 1 - c.3952C>T r.(?) p.(Arg1318Cys) - VUS g.102466473C>T - DYNC1H1(NM_001376.4):c.3952C>T (p.R1318C) - DYNC1H1_000272 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.3960+16G>A r.(=) p.(=) - benign g.102466497G>A - DYNC1H1(NM_001376.4):c.3960+16G>A - DYNC1H1_000273 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 - c.3961-3C>T r.spl? p.? - VUS g.102466620C>T - DYNC1H1(NM_001376.4):c.3961-3C>T - DYNC1H1_000310 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-/. 1 - c.3993C>T r.(?) p.(Gly1331=) - benign g.102466655C>T - DYNC1H1(NM_001376.4):c.3993C>T (p.G1331=) - DYNC1H1_000274 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
?/. 1 19 c.4105C>A r.(?) p.(Gln1369Lys) - VUS g.102467321C>A g.102000984C>A - - DYNC1H1_000286 - 0 - - Germline - - - - - LOVD
-?/. 1 - c.4143G>A r.(?) p.(Ala1381=) - likely benign g.102467359G>A g.102001022G>A DYNC1H1(NM_001376.4):c.4143G>A (p.A1381=) - DYNC1H1_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-/., -?/. 2 - c.4185+20C>T r.(=) p.(=) - benign, likely benign g.102467421C>T g.102001084C>T DYNC1H1(NM_001376.4):c.4185+20C>T - DYNC1H1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
+?/. 1 - c.4259T>G r.(?) p.(Leu1420Arg) - likely pathogenic (dominant) g.102467555T>G g.102001218T>G - - DYNC1H1_000249 - PubMed: Antoniadi 2015 - - De novo - - - - - Johan den Dunnen
-?/. 1 - c.4395+19C>T r.(=) p.(=) - likely benign g.102467710C>T g.102001373C>T DYNC1H1(NM_001376.4):c.4395+19C>T - DYNC1H1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_AMC
-?/. 1 - c.4515G>A r.(?) p.(Ser1505=) - likely benign g.102467991G>A g.102001654G>A DYNC1H1(NM_001376.4):c.4515G>A (p.S1505=) - DYNC1H1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.4519A>G r.(?) p.(Met1507Val) - likely pathogenic g.102467995A>G g.102001658A>G - - DYNC1H1_000119 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.4520T>C r.(?) p.(Met1507Thr) - VUS g.102467996T>C - DYNC1H1(NM_001376.4):c.4520T>C (p.M1507T) - DYNC1H1_000295 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.4533G>A r.(?) p.(Pro1511=) - benign, likely benign g.102468009G>A g.102001672G>A DYNC1H1(NM_001376.4):c.4533G>A (p.P1511=) - DYNC1H1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_AMC
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