1639[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 152995	GRCh38/hg38 2p25.1-11.2(chr2:7495123-87705899)x3	HAAO, HADHA +2457 more	Copy number gain	See cases	GBenign
Select item 146814	GRCh38/hg38 2p16.1-11.2(chr2:58279519-83586962)x3	AAK1, ACTG2 +768 more	Copy number gain	See cases	GPathogenic
Select item 337061	NM_004082.5(DCTN1):c.*251T>G	DCTN1	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +1 more	GUncertain significance
Select item 337062	NM_004082.5(DCTN1):c.*167C>T	DCTN1	Single nucleotide variant (3 prime UTR variant +1 more)	Perry syndrome +1 more	GBenign
Select item 337063	NM_004082.5(DCTN1):c.*122A>C	DCTN1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 896792	NM_004082.5(DCTN1):c.*111C>T	DCTN1	Single nucleotide variant (3 prime UTR variant +1 more)	Perry syndrome +1 more	GUncertain significance
Select item 337064	NM_004082.5(DCTN1):c.*57C>T	DCTN1	Single nucleotide variant (3 prime UTR variant +1 more)	Perry syndrome +1 more	GBenign
Select item 337065	NM_004082.5(DCTN1):c.*49G>A	DCTN1	Single nucleotide variant (3 prime UTR variant +1 more)	Perry syndrome +1 more	GLikely benign
Select item 337066	NM_004082.5(DCTN1):c.*21C>T	DCTN1	Single nucleotide variant (3 prime UTR variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +2 more	GBenign
Select item 1994590	NM_004082.5(DCTN1):c.3834C>T (p.Ser1278=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2128888	NM_004082.5(DCTN1):c.3830T>C (p.Ile1277Thr)	DCTN1 (I1254T +7 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +2 more	GUncertain significance
Select item 1583678	NM_004082.5(DCTN1):c.3828C>T (p.Leu1276=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 570076	NM_004082.5(DCTN1):c.3824G>A (p.Arg1275His)	DCTN1 (R1233H +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GUncertain significance
Select item 1474510	NM_004082.5(DCTN1):c.3823C>T (p.Arg1275Cys)	DCTN1 (R1258C +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely pathogenic
Select item 1912545	NM_004082.5(DCTN1):c.3820A>C (p.Ser1274Arg)	DCTN1 (S1267R +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 1041780	NM_004082.5(DCTN1):c.3811C>G (p.Gln1271Glu)	DCTN1 (Q1246E +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 1051565	NM_004082.5(DCTN1):c.3810C>A (p.His1270Gln)	DCTN1 (H1131Q +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 536155	NM_004082.5(DCTN1):c.3803A>G (p.Gln1268Arg)	DCTN1 (Q1268R +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 897272	NM_004082.5(DCTN1):c.3799G>C (p.Glu1267Gln)	DCTN1 (E1260Q +7 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +3 more	GConflicting classifications of pathogenicity
Select item 569319	NM_004082.5(DCTN1):c.3799G>A (p.Glu1267Lys)	DCTN1 (E1225K +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GBenign/Likely benign
Select item 1715479	NM_004082.5(DCTN1):c.3797A>G (p.Gln1266Arg)	DCTN1 (Q1127R +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 1387060	NM_004082.5(DCTN1):c.3796C>A (p.Gln1266Lys)	DCTN1 (Q1127K +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1478343	NM_004082.5(DCTN1):c.3787G>A (p.Val1263Met)	DCTN1 (V1238M +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 760863	NM_004082.5(DCTN1):c.3783G>T (p.Arg1261=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Perry syndrome +2 more	GLikely benign
Select item 337067	NM_004082.5(DCTN1):c.3782G>A (p.Arg1261Gln)	DCTN1 (R1127Q +7 more)	Single nucleotide variant (missense variant +1 more)	Perry syndrome +2 more	GBenign/Likely benign
Select item 640228	NM_004082.5(DCTN1):c.3781C>T (p.Arg1261Trp)	DCTN1 (R1122W +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2110160	NM_004082.5(DCTN1):c.3780C>T (p.His1260=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 582305	NM_004082.5(DCTN1):c.3778C>T (p.His1260Tyr)	DCTN1 (H1126Y +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 643909	NM_004082.5(DCTN1):c.3776G>A (p.Arg1259Gln)	DCTN1 (R1217Q +7 more)	Single nucleotide variant (missense variant +1 more)	Perry syndrome +2 more	GUncertain significance
Select item 640080	NM_004082.5(DCTN1):c.3760G>T (p.Ala1254Ser)	DCTN1 (A1229S +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 337068	NM_004082.5(DCTN1):c.3759G>A (p.Ala1253=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Perry syndrome +3 more	GConflicting classifications of pathogenicity
Select item 960668	NM_004082.5(DCTN1):c.3758C>T (p.Ala1253Val)	DCTN1 (A1114V +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 1020365	NM_004082.5(DCTN1):c.3755G>A (p.Cys1252Tyr)	DCTN1 (C1113Y +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 1387496	NM_004082.5(DCTN1):c.3754T>C (p.Cys1252Arg)	DCTN1 (C1113R +7 more)	Single nucleotide variant (missense variant +1 more)	Perry syndrome +2 more	GUncertain significance
Select item 2651069	NM_004082.5(DCTN1):c.3753A>C (p.Ser1251=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1909110	NM_004082.5(DCTN1):c.3752C>T (p.Ser1251Leu)	DCTN1 (S1112L +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 1417346	NM_004082.5(DCTN1):c.3751T>G (p.Ser1251Ala)	DCTN1 (S1226A +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 835939	NM_004082.5(DCTN1):c.3750C>G (p.Phe1250Leu)	DCTN1 (F1208L +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 1089527	NM_004082.5(DCTN1):c.3747C>T (p.Thr1249=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +2 more	GLikely benign
Select item 764114	NM_004082.5(DCTN1):c.3747C>G (p.Thr1249=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Perry syndrome +2 more	GLikely benign
Select item 8402	NM_004082.5(DCTN1):c.3746C>T (p.Thr1249Ile)	DCTN1 (T1249I +7 more)	Single nucleotide variant (missense variant +1 more)	Perry syndrome +4 more	GBenign/Likely benign
Select item 941160	NM_004082.5(DCTN1):c.3742G>A (p.Val1248Met)	DCTN1 (V1114M +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GUncertain significance
Select item 1474708	NM_004082.5(DCTN1):c.3741A>C (p.Lys1247Asn)	DCTN1 (K1222N +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 965216	NM_004082.5(DCTN1):c.3733A>G (p.Met1245Val)	DCTN1 (M1203V +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GConflicting classifications of pathogenicity
Select item 934831	NM_004082.5(DCTN1):c.3731A>G (p.Tyr1244Cys)	DCTN1 (Y1105C +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 665455	NM_004082.5(DCTN1):c.3728T>C (p.Val1243Ala)	DCTN1 (V1109A +7 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +2 more	GUncertain significance
Select item 2950174	NM_004082.5(DCTN1):c.3726A>T (p.Thr1242=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 1547853	NM_004082.5(DCTN1):c.3726A>G (p.Thr1242=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Perry syndrome +2 more	GLikely benign
Select item 774034	NM_004082.5(DCTN1):c.3721G>A (p.Asp1241Asn)	DCTN1 (D1107N +7 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +3 more	GLikely benign
Select item 946666	NM_004082.5(DCTN1):c.3718G>T (p.Asp1240Tyr)	DCTN1 (D1106Y +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 654711	NM_004082.5(DCTN1):c.3712C>G (p.Gln1238Glu)	DCTN1 (Q1231E +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GConflicting classifications of pathogenicity
Select item 1703705	NM_004082.5(DCTN1):c.3711G>A (p.Glu1237=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GBenign
Select item 2936475	NM_004082.5(DCTN1):c.3709G>A (p.Glu1237Lys)	DCTN1 (E1212K +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 1009073	NM_004082.5(DCTN1):c.3701C>T (p.Ala1234Val)	DCTN1 (A1095V +7 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +2 more	GUncertain significance
Select item 2055094	NM_004082.5(DCTN1):c.3700-3C>G	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 1447817	NM_004082.5(DCTN1):c.3700-3C>T	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 1094103	NM_004082.5(DCTN1):c.3700-4C>T	DCTN1	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7B +2 more	GLikely benign
Select item 2080849	NM_004082.5(DCTN1):c.3700-6C>A	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 1665092	NM_004082.5(DCTN1):c.3700-6C>T	DCTN1	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7B +2 more	GLikely benign
Select item 2935083	NM_004082.5(DCTN1):c.3700-18C>T	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2923467	NM_004082.5(DCTN1):c.3700-18C>A	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 1984074	NM_004082.5(DCTN1):c.3700-20T>C	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 1201436	NM_004082.5(DCTN1):c.3700-47C>G	DCTN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1271608	NM_004082.5(DCTN1):c.3699+160T>C	DCTN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1630828	NM_004082.5(DCTN1):c.3699+18_3699+29del	DCTN1	Deletion (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 1661696	NM_004082.5(DCTN1):c.3699+12_3699+23del	DCTN1	Deletion (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GBenign
Select item 2168176	NM_004082.5(DCTN1):c.3699+18del	DCTN1	Deletion (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GBenign
Select item 445640	NM_004082.5(DCTN1):c.3699+16G>A	DCTN1	Single nucleotide variant (intron variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1407422	NM_004082.5(DCTN1):c.3699+12C>T	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2163587	NM_004082.5(DCTN1):c.3699+11G>A	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 1986664	NM_004082.5(DCTN1):c.3699+8_3699+9dup	DCTN1	Duplication (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 703434	NM_004082.5(DCTN1):c.3699+9dup	DCTN1	Duplication (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 3344258	NM_004082.5(DCTN1):c.3698G>A (p.Arg1233Lys)	DCTN1 (R1094K +7 more)	Single nucleotide variant (missense variant +1 more)	DCTN1-related disorder	GUncertain significance
Select item 1974943	NM_004082.5(DCTN1):c.3694C>G (p.Leu1232Val)	DCTN1 (L1225V +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 1108568	NM_004082.5(DCTN1):c.3693C>T (p.Phe1231=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2940967	NM_004082.5(DCTN1):c.3684A>G (p.Ser1228=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 1714152	NM_004082.5(DCTN1):c.3683C>T (p.Ser1228Leu)	DCTN1 (S1089L +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 792505	NM_004082.5(DCTN1):c.3666C>T (p.Asp1222=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2075880	NM_004082.5(DCTN1):c.3664G>A (p.Asp1222Asn)	DCTN1 (D1197N +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 1145125	NM_004082.5(DCTN1):c.3660C>G (p.Pro1220=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 1315865	NM_004082.5(DCTN1):c.3659C>A (p.Pro1220His)	DCTN1 (P1081H +7 more)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 1131450	NM_004082.5(DCTN1):c.3654A>G (p.Thr1218=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 536146	NM_004082.5(DCTN1):c.3652A>G (p.Thr1218Ala)	DCTN1 (T1176A +7 more)	Single nucleotide variant (missense variant +1 more)	DCTN1-related disorder +3 more	GUncertain significance
Select item 2170871	NM_004082.5(DCTN1):c.3650C>G (p.Ala1217Gly)	DCTN1 (A1175G +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 2020660	NM_004082.5(DCTN1):c.3645T>C (p.Pro1215=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 657312	NM_004082.5(DCTN1):c.3643C>T (p.Pro1215Ser)	DCTN1 (P1076S +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 536181	NM_004082.5(DCTN1):c.3643C>G (p.Pro1215Ala)	DCTN1 (P1081A +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GBenign/Likely benign
Select item 1418257	NM_004082.5(DCTN1):c.3641G>A (p.Arg1214His)	DCTN1 (R1214H +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 1504072	NM_004082.5(DCTN1):c.3638_3640del (p.Gln1213del)	DCTN1 (Q1079del +7 more)	Deletion (inframe_deletion +1 more)	Neuronopathy, distal hereditary motor, type 7B +2 more	GUncertain significance
Select item 844403	NM_004082.5(DCTN1):c.3640C>T (p.Arg1214Cys)	DCTN1 (R1207C +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GUncertain significance
Select item 1489042	NM_004082.5(DCTN1):c.3629C>G (p.Thr1210Arg)	DCTN1 (T1187R +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 684500	NM_004082.5(DCTN1):c.3629C>T (p.Thr1210Ile)	DCTN1 (T1071I +7 more)	Single nucleotide variant (missense variant +1 more)	DCTN1-related disorder	Gnot provided
Select item 964669	NM_004082.5(DCTN1):c.3623A>G (p.Lys1208Arg)	DCTN1 (K1166R +7 more)	Single nucleotide variant (missense variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +2 more	GUncertain significance
Select item 895456	NM_004082.5(DCTN1):c.3621C>T (p.Leu1207=)	DCTN1	Single nucleotide variant (synonymous variant +1 more)	Neuronopathy, distal hereditary motor, type 7B +3 more	GConflicting classifications of pathogenicity
Select item 1733271	NM_004082.5(DCTN1):c.3615G>T (p.Glu1205Asp)	DCTN1 (E1188D +7 more)	Single nucleotide variant (missense variant +1 more)	Amyotrophic lateral sclerosis type 1 +3 more	GUncertain significance
Select item 1445690	NM_004082.5(DCTN1):c.3610-13_3612del	DCTN1	Deletion (splice acceptor variant)	Amyotrophic lateral sclerosis type 1 +2 more	GUncertain significance
Select item 999085	NM_004082.5(DCTN1):c.3611A>G (p.Asp1204Gly)	DCTN1 (D1065G +7 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 2950195	NM_004082.5(DCTN1):c.3610-5C>G	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 2125898	NM_004082.5(DCTN1):c.3610-5C>T	DCTN1	Single nucleotide variant (intron variant)	Amyotrophic lateral sclerosis type 1 +2 more	GLikely benign
Select item 1095442	NM_004082.5(DCTN1):c.3610-6C>T	DCTN1	Single nucleotide variant (intron variant)	Neuronopathy, distal hereditary motor, type 7B +2 more	GLikely benign

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