Unique variants in the DYNC2H1 gene

Information The variants shown are described using the NM_001080463.1 transcript reference sequence.

223 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.21C>T r.(?) p.(Asp7=) - benign g.102980324C>T g.103109595C>T DYNC2H1(NM_001080463.1):c.21C>T (p.D7=) - DYNC2H1_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/., -?/. 2 - c.195+7T>C r.(=) p.(=) - benign, likely benign g.102980505T>C g.103109776T>C DYNC2H1(NM_001080463.1):c.195+7T>C (, p.(=)) - DYNC2H1_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
+/. 1 - c.327C>G r.(?) p.(Tyr109Ter) - pathogenic g.102984397C>G g.103113668C>G DYNC2H1(NM_001080463.1):c.327C>G (p.Y109*) - DYNC2H1_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.371A>G r.(?) p.(Gln124Arg) - likely benign g.102984836A>G g.103114107A>G DYNC2H1(NM_001080463.1):c.371A>G (p.(Gln124Arg)) - DYNC2H1_000131 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.392A>G r.(?) p.(Asp131Gly) - VUS g.102984857A>G g.103114128A>G DYNC2H1(NM_001080463.1):c.392A>G (p.(Asp131Gly)) - DYNC2H1_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.456A>G r.(?) p.(Ser152=) - likely benign g.102984921A>G - DYNC2H1(NM_001080463.1):c.456A>G (p.S152=) - DYNC2H1_000211 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.536G>A r.(?) p.(Trp179Ter) - pathogenic g.102985939G>A g.103115210G>A - - DYNC2H1_000096 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.553C>G r.(?) p.(Arg185Gly) - VUS g.102985956C>G g.103115227C>G DYNC2H1(NM_001080463.1):c.553C>G (p.R185G) - DYNC2H1_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.578A>G r.(?) p.(Glu193Gly) - likely benign g.102985981A>G g.103115252A>G DYNC2H1(NM_001080463.1):c.578A>G (p.(Glu193Gly)) - DYNC2H1_000132 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 2 - c.645A>G r.(?) p.(Leu215=) - benign g.102987322A>G g.103116593A>G DYNC2H1(NM_001080463.1):c.645A>G (p.L215=) - DYNC2H1_000133 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
+/. 1 - c.729T>A r.(?) p.(Tyr243Ter) - pathogenic g.102987406T>A g.103116677T>A - - DYNC2H1_000097 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.872G>T r.(?) p.(Cys291Phe) - VUS g.102988465G>T g.103117736G>T - - DYNC2H1_000134 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.911A>T r.(?) p.(Gln304Leu) - benign g.102988504A>T g.103117775A>T DYNC2H1(NM_001080463.1):c.911A>T (p.Q304L), DYNC2H1(NM_001080463.2):c.911A>T (p.Q304L) - DYNC2H1_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen
?/. 1 - c.913G>A r.(?) p.(Val305Met) - VUS g.102988506G>A g.103117777G>A DYNC2H1(NM_001080463.1):c.913G>A (p.V305M) - DYNC2H1_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.1021C>T r.(?) p.(His341Tyr) - benign g.102991197C>T g.103120468C>T DYNC2H1(NM_001080463.1):c.1021C>T (p.H341Y), DYNC2H1(NM_001080463.2):c.1021C>T (p.H341Y) - DYNC2H1_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
-?/. 1 - c.1031T>A r.(?) p.(Phe344Tyr) - likely benign g.102991207T>A g.103120478T>A DYNC2H1(NM_001080463.1):c.1031T>A (p.F344Y) - DYNC2H1_000135 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 2 - c.1151C>T r.(?) p.(Ala384Val) - pathogenic, pathogenic (recessive) g.102991434C>T g.103120705C>T NM_001080463.1:c.1151C>T:(p.Ala384Val) - DYNC2H1_000098 VKGL data sharing initiative Nederland PubMed: Maddirevula 2018 - - CLASSIFICATION record, Germline - - - - - VKGL-NL_Nijmegen
?/. 1 - c.1157C>T r.(?) p.(Ser386Phe) - VUS g.102991440C>T g.103120711C>T DYNC2H1(NM_001080463.1):c.1157C>T (p.(Ser386Phe)) - DYNC2H1_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 2 - c.1233A>G r.(?) p.(Gln411=) - benign, likely benign g.102991516A>G g.103120787A>G DYNC2H1(NM_001080463.1):c.1233A>G (p.Q411=) - DYNC2H1_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.1249-6T>C r.(=) p.(=) - likely benign g.102991648T>C g.103120919T>C DYNC2H1(NM_001080463.1):c.1249-6T>C (p.(=)) - DYNC2H1_000137 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.1263C>A r.(?) p.(Phe421Leu) - likely benign g.102991668C>A g.103120939C>A DYNC2H1(NM_001080463.1):c.1263C>A (p.F421L) - DYNC2H1_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.1288C>T r.(?) p.(Arg430Cys) - likely pathogenic g.102991693C>T g.103120964C>T DYNC2H1(NM_001080463.1):c.1288C>T (p.R430C) - DYNC2H1_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.1306G>T r.(?) p.(Glu436Ter) - pathogenic g.102991711G>T g.103120982G>T DYNC2H1():g.102991711G>T - DYNC2H1_000099 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 1 - c.1367G>A r.(?) p.(Arg456Gln) - benign g.102992107G>A g.103121378G>A DYNC2H1(NM_001080463.1):c.1367G>A (p.R456Q) - DYNC2H1_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.1468C>T r.(?) p.(Arg490Cys) - VUS g.102992208C>T g.103121479C>T DYNC2H1(NM_001080463.1):c.1468C>T (p.(Arg490Cys)) - DYNC2H1_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.1469G>A r.(?) p.(Arg490His) - VUS g.102992209G>A g.103121480G>A DYNC2H1(NM_001080463.1):c.1469G>A (p.R490H) - DYNC2H1_000184 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 2 - c.1774C>T r.(?) p.(Leu592Phe) - VUS g.102995941C>T g.103125212C>T DYNC2H1(NM_001080463.1):c.1774C>T (p.L592F) - DYNC2H1_000100 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 1 - c.1829T>G r.(?) p.(Phe610Cys) - VUS g.102995996T>G g.103125267T>G DYNC2H1(NM_001080463.1):c.1829T>G (p.(Phe610Cys)) - DYNC2H1_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.1847_1852del r.(?) p.(Ile616_Leu617del) - likely pathogenic g.102996014_102996019del - DYNC2H1(NM_001080463.1):c.1847_1852delTTCTTA (p.I616_L617del) - DYNC2H1_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_VUmc
?/. 1 - c.2289G>A r.(?) p.(Met763Ile) - VUS g.103006307G>A - - - DYNC2H1_000230 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.2439T>C r.(?) p.(Phe813=) - likely benign g.103006542T>C - DYNC2H1(NM_001080463.1):c.2439T>C (p.F813=) - DYNC2H1_000231 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 1 - c.2454G>A r.(?) p.(Glu818=) - benign g.103006557G>A g.103135828G>A DYNC2H1(NM_001080463.1):c.2454G>A (p.E818=) - DYNC2H1_000138 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.2549T>A r.(?) p.(Leu850Ter) - pathogenic g.103006652T>A g.103135923T>A - - DYNC2H1_000140 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2581A>G r.(?) p.(Ile861Val) - VUS g.103014003A>G g.103143274A>G DYNC2H1(NM_001080463.1):c.2581A>G (p.(Ile861Val)) - DYNC2H1_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.2593C>T r.(?) p.(Gln865Ter) - pathogenic g.103014015C>T g.103143286C>T - - DYNC2H1_000141 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.2612T>C r.(?) p.(Leu871Pro) - VUS g.103014034T>C g.103143305T>C DYNC2H1(NM_001080463.1):c.2612T>C (p.(Leu871Pro)) - DYNC2H1_000142 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2686G>T r.(?) p.(Val896Leu) - likely benign g.103014108G>T g.103143379G>T DYNC2H1(NM_001080463.1):c.2686G>T (p.(Val896Leu)) - DYNC2H1_000143 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+?/. 1 - c.2818+1G>C r.spl? p.? ACMG VUS g.103018617G>C - - - DYNC2H1_000228 - - - - Germline/De novo (untested) - - - - - Jinu Han
-/. 2 - c.2818+13T>C r.(=) p.(=) - benign g.103018629T>C g.103147900T>C DYNC2H1(NM_001080463.1):c.2818+13T>C, DYNC2H1(NM_001080463.2):c.2818+13T>C - DYNC2H1_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Utrecht
-/. 1 - c.2818+13T>G r.(=) p.(=) - benign g.103018629T>G g.103147900T>G - - DYNC2H1_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/., +?/. 2 19i c.2819-14A>G r.(=), r.spl p.(=) - likely pathogenic, pathogenic (recessive) g.103019205A>G g.103148476A>G DYNC2H1(NM_001080463.2):c.2819-14A>G - DYNC2H1_000001 predicted to affect splicing by creating a new splice acceptor site 13bp upstream from exon 20, 1 more item PubMed: Ellard 2015, Journal: Ellard 2015 - - CLASSIFICATION record, Germline yes - - - - Hana Lango-Allen, VKGL-NL_Groningen
-/., -?/. 4 - c.2860G>A r.(?) p.(Glu954Lys) - benign, likely benign g.103019260G>A g.103148531G>A DYNC2H1(NM_001080463.1):c.2860G>A (p.(Glu954Lys)) - DYNC2H1_000033 103 heterozygous; Clinindb (India), 2 homozygous; Clinindb (India), 1 more item PubMed: Narang 2020, Journal: Narang 2020 - rs61898615 CLASSIFICATION record, Germline - 103/2795 individuals, 2/2795 individuals - - - VKGL-NL_Leiden, VKGL-NL_Nijmegen, Mohammed Faruq
?/. 1 - c.2935C>T r.(?) p.(Arg979Trp) - VUS g.103019335C>T g.103148606C>T DYNC2H1(NM_001080463.1):c.2935C>T (p.(Arg979Trp)) - DYNC2H1_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2936G>A r.(?) p.(Arg979Gln) - likely benign g.103019336G>A g.103148607G>A DYNC2H1(NM_001080463.1):c.2936G>A (p.(Arg979Gln)) - DYNC2H1_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.2947-10dup r.(=) p.(=) - benign g.103022855dup g.103152126dup DYNC2H1(NM_001080463.2):c.2947-10_2947-9insT - DYNC2H1_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
-?/. 1 - c.2947-7C>T r.(=) p.(=) - likely benign g.103022858C>T g.103152129C>T DYNC2H1(NM_001080463.1):c.2947-7C>T (p.(=)) - DYNC2H1_000144 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.2947-6C>T r.(=) p.(=) - likely benign g.103022859C>T g.103152130C>T DYNC2H1(NM_001080463.1):c.2947-6C>T (p.(=)) - DYNC2H1_000145 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2972A>C r.(?) p.(Glu991Ala) - VUS g.103022890A>C g.103152161A>C DYNC2H1(NM_001080463.1):c.2972A>C (p.(Glu991Ala)) - DYNC2H1_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.2993G>A r.(?) p.(Arg998Gln) - VUS g.103022911G>A g.103152182G>A - - DYNC2H1_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
?/. 1 - c.3015A>G r.(?) p.(Leu1005=) - VUS g.103022933A>G - DYNC2H1(NM_001080463.1):c.3015A>G (p.L1005=) - DYNC2H1_000232 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.3059T>G r.(?) p.(Leu1020Ter) - pathogenic g.103022977T>G - DYNC2H1(NM_001080463.2):c.3059T>G (p.L1020*) - DYNC2H1_000208 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Utrecht
-?/. 1 - c.3097-4A>G r.spl? p.? - likely benign g.103024028A>G - DYNC2H1(NM_001080463.1):c.3097-4A>G (p.?) - DYNC2H1_000233 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 2 - c.3170G>A r.(?) p.(Arg1057His) - VUS g.103024105G>A g.103153376G>A DYNC2H1(NM_001080463.1):c.3170G>A (p.R1057H, p.(Arg1057His)) - DYNC2H1_000146 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
-?/. 1 - c.3181C>G r.(?) p.(Leu1061Val) - likely benign g.103024116C>G g.103153387C>G DYNC2H1(NM_001080463.1):c.3181C>G (p.(Leu1061Val)) - DYNC2H1_000147 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.3419G>T r.(?) p.(Gly1140Val) - likely benign g.103025296G>T - DYNC2H1(NM_001080463.1):c.3419G>T (p.(Gly1140Val)) - DYNC2H1_000234 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.3457C>T r.(?) p.(Arg1153Trp) - VUS g.103025334C>T - DYNC2H1(NM_001080463.1):c.3457C>T (p.R1153W) - DYNC2H1_000235 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.3459-1G>A r.spl? p.? - pathogenic g.103025423G>A g.103154694G>A - - DYNC2H1_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-?/. 1 - c.3500A>G r.(?) p.(His1167Arg) - likely benign g.103025465A>G g.103154736A>G DYNC2H1(NM_001080463.1):c.3500A>G (p.(His1167Arg)) - DYNC2H1_000185 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
+/. 1 - c.3509T>G r.(?) p.(Leu1170Ter) - pathogenic g.103025474T>G g.103154745T>G - - DYNC2H1_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 3 - c.3574-8del r.(=) p.(=) - benign g.103026052del g.103155323del 1 more item - DYNC2H1_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Groningen
-?/. 1 - c.3574-7G>T r.(=) p.(=) - likely benign g.103026053G>T g.103155324G>T DYNC2H1(NM_001080463.1):c.3574-7G>T (p.(=)) - DYNC2H1_000149 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/., -?/. 2 - c.3660T>C r.(?) p.(Pro1220=) - benign, likely benign g.103026146T>C g.103155417T>C DYNC2H1(NM_001080463.1):c.3660T>C (p.P1220=) - DYNC2H1_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 2 - c.3665G>A r.(?) p.(Gly1222Glu) - VUS g.103026151G>A g.103155422G>A DYNC2H1(NM_001080463.1):c.3665G>A (p.G1222E, p.(Gly1222Glu)) - DYNC2H1_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 3 - c.3682C>A r.(?) p.(Leu1228Ile) - VUS g.103026168C>A g.103155439C>A DYNC2H1(NM_001080463.1):c.3682C>A (p.L1228I, p.(Leu1228Ile)) - DYNC2H1_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
?/. 2 - c.3746A>T r.(?) p.(Asp1249Val) - VUS g.103027118A>T g.103156389A>T DYNC2H1(NM_001080463.1):c.3746A>T (p.D1249V, p.(Asp1249Val)) - DYNC2H1_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam
?/. 1 - c.3782G>C r.(?) p.(Arg1261Thr) - VUS g.103027154G>C g.103156425G>C DYNC2H1(NM_001080463.1):c.3782G>C (p.(Arg1261Thr)) - DYNC2H1_000186 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 3 - c.3862A>G r.(?) p.(Thr1288Ala) - benign g.103027234A>G g.103156505A>G DYNC2H1(NM_001080463.1):c.3862A>G (p.T1288A), DYNC2H1(NM_001080463.2):c.3862A>G (p.T1288A) - DYNC2H1_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.3920G>A r.(?) p.(Cys1307Tyr) - VUS g.103027292G>A g.103156563G>A DYNC2H1(NM_001080463.1):c.3920G>A (p.(Cys1307Tyr)) - DYNC2H1_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 1 - c.4068C>T r.(?) p.(Phe1356=) - benign g.103027440C>T g.103156711C>T DYNC2H1(NM_001080463.1):c.4068C>T (p.F1356=) - DYNC2H1_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/. 3 - c.4238A>G r.(?) p.(Lys1413Arg) - benign g.103029516A>G g.103158787A>G DYNC2H1(NM_001080463.1):c.4238A>G (p.K1413R), DYNC2H1(NM_001080463.2):c.4238A>G (p.K1413R) - DYNC2H1_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
+?/. 1 - c.4268G>A r.(?) p.(Arg1423His) - likely pathogenic g.103029646G>A - - - DYNC2H1_000224 - - - - Unknown - - - - - Karina Silveira
-?/. 1 - c.4312T>C r.(?) p.(Leu1438=) - likely benign g.103029690T>C g.103158961T>C DYNC2H1(NM_001080463.1):c.4312T>C (p.L1438=) - DYNC2H1_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 31 c.4699C>G r.(?) p.(Leu1567Val) - likely pathogenic g.103036714C>G g.103165985C>G g.56555C>G - DYNC2H1_000006 - - - - Germline - - - - - Karina Silveira
-?/. 1 - c.4719A>G r.(?) p.(Gln1573=) - likely benign g.103036734A>G g.103166005A>G DYNC2H1(NM_001080463.1):c.4719A>G (p.Q1573=) - DYNC2H1_000187 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 4 - c.4728C>G r.(?) p.(Asn1576Lys) - benign, likely benign g.103036743C>G g.103166014C>G 1 more item - DYNC2H1_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden, VKGL-NL_Rotterdam, VKGL-NL_Utrecht, VKGL-NL_Nijmegen
-?/. 1 - c.4916C>A r.(?) p.(Thr1639Lys) - likely benign g.103039637C>A g.103168908C>A DYNC2H1(NM_001080463.1):c.4916C>A (p.T1639K) - DYNC2H1_000150 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-/., -?/. 2 - c.4968+18G>A r.(=) p.(=) - benign, likely benign g.103039707G>A g.103168978G>A DYNC2H1(NM_001080463.1):c.4968+18G>A - DYNC2H1_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-?/. 1 - c.4971T>C r.(?) p.(Gly1657=) - likely benign g.103040839T>C g.103170110T>C DYNC2H1(NM_001080463.1):c.4971T>C (p.G1657=) - DYNC2H1_000188 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 33 c.5087C>T r.(?) p.(Thr1696Met) - likely pathogenic g.103040955C>T g.103170226C>T - - DYNC2H1_000009 - - - - Germline yes - - - - Karen Stals
+?/. 1 33 c.5102_5108del r.(?) p.(Ala1701Valfs*9) - likely pathogenic g.103040970_103040976del g.103170241_103170247del 5099_5105delAGGCTTT - DYNC2H1_000005 - - - - Germline - - - - - Karina Silveira
-?/. 1 - c.5371A>G r.(?) p.(Met1791Val) - likely benign g.103043847A>G g.103173118A>G DYNC2H1(NM_001080463.1):c.5371A>G (p.(Met1791Val)) - DYNC2H1_000151 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.5449A>G r.(?) p.(Met1817Val) - likely benign g.103043925A>G - DYNC2H1(NM_001080463.1):c.5449A>G (p.(Met1817Val)) - DYNC2H1_000236 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
?/. 1 - c.5455C>T r.(?) p.(His1819Tyr) - VUS g.103043931C>T - DYNC2H1(NM_001080463.1):c.5455C>T (p.(His1819Tyr)) - DYNC2H1_000203 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.5508A>G r.(?) p.(Lys1836=) - likely benign g.103043984A>G - DYNC2H1(NM_001080463.1):c.5508A>G (p.K1836=) - DYNC2H1_000212 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
-?/. 1 - c.5511C>T r.(?) p.(Asp1837=) - likely benign g.103043987C>T g.103173258C>T DYNC2H1(NM_001080463.1):c.5511C>T (p.D1837=) - DYNC2H1_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+/. 1 - c.5547del r.(?) p.(Phe1849LeufsTer8) - pathogenic g.103044023del g.103173294del - - DYNC2H1_000153 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
-/. 2 - c.5558+4A>G r.spl? p.? - benign g.103044038A>G g.103173309A>G DYNC2H1(NM_001080463.1):c.5558+4A>G - DYNC2H1_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
-/. 1 - c.5559-6T>C r.(=) p.(=) - benign g.103044778T>C g.103174049T>C DYNC2H1(NM_001080463.1):c.5559-6T>C - DYNC2H1_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.5695G>A r.(?) p.(Val1899Ile) - VUS g.103046984G>A g.103176255G>A DYNC2H1(NM_001080463.1):c.5695G>A (p.(Val1899Ile)) - DYNC2H1_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-/. 3 - c.5718C>A r.(?) p.(Thr1906=) - benign g.103047007C>A g.103176278C>A DYNC2H1(NM_001080463.1):c.5718C>A (p.T1906=), DYNC2H1(NM_001080463.2):c.5718C>A (p.T1906=) - DYNC2H1_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Groningen, VKGL-NL_Nijmegen
?/. 1 - c.5791T>A r.(?) p.(Leu1931Met) - VUS g.103047080T>A g.103176351T>A DYNC2H1(NM_001080463.1):c.5791T>A (p.L1931M) - DYNC2H1_000189 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
+?/. 1 - c.5873A>G r.(?) p.(Gln1958Arg) - likely pathogenic g.103047162A>G g.103176433A>G DYNC2H1(NM_001080463.2):c.5873A>G (p.Q1958R) - DYNC2H1_000154 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Groningen
?/. 1 - c.5971A>T r.(?) p.(Met1991Leu) - VUS g.103048381A>T g.103177652A>T - - DYNC2H1_000155 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+/. 1 - c.5984C>T r.(?) p.(Ala1995Val) ACMG pathogenic (recessive) g.103048394C>T g.103177665C>T - - DYNC2H1_000225 ACMG PS4, PM2, PM3, PP4 PubMed: Tang 2021 - - Germline - - - - - Johan den Dunnen
+/. 3 - c.6035C>T r.(?) p.(Ala2012Val) - pathogenic (recessive) g.103048445C>T g.103177716C>T NM_001080463.1:c.6035C>T:p.(Ala2012Val) - DYNC2H1_000213 - PubMed: Maddirevula 2018 - - Germline - - - - - LOVD
?/. 1 - c.6047A>G r.(?) p.(Tyr2016Cys) - VUS g.103048457A>G g.103177728A>G DYNC2H1(NM_001080463.1):c.6047A>G (p.(Tyr2016Cys)) - DYNC2H1_000156 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Leiden
-?/. 1 - c.6057A>G r.(?) p.(Leu2019=) - likely benign g.103048467A>G g.103177738A>G DYNC2H1(NM_001080463.1):c.6057A>G (p.L2019=) - DYNC2H1_000157 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam
?/. 1 - c.6170A>T r.(?) p.(Asp2057Val) - VUS g.103049785A>T g.103179056A>T - - DYNC2H1_000159 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Nijmegen
+?/. 1 39 c.6332G>A r.(?) p.(Gly2111Glu) - likely pathogenic g.103049947G>A g.103179218G>A g.69788G>A - DYNC2H1_000003 - - - - Germline - - - - - Karina Silveira
-/. 2 - c.6420T>C r.(?) p.(Asn2140=) - benign g.103052558T>C g.103181829T>C DYNC2H1(NM_001080463.1):c.6420T>C (p.N2140=) - DYNC2H1_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - VKGL-NL_Rotterdam, VKGL-NL_Nijmegen
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