C0036069[trait identifier] AND "University of Washington Center for Me - ClinVar

Search results

Items: 97

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 446629	NM_018051.5(DYNC2I1):c.2284C>T (p.Arg762Ter)	DYNC2I1 (R762* +4 more)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446627	NM_018051.5(DYNC2I1):c.2305G>A (p.Glu769Lys)	DYNC2I1 (E769K +4 more)	Single nucleotide variant (missense variant)	DYNC2I1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 446630	NM_018051.5(DYNC2I1):c.2503_2505dup (p.Arg835dup)	DYNC2I1	Duplication (inframe_insertion)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446628	NM_018051.5(DYNC2I1):c.2841del (p.Gln947fs)	DYNC2I1 (Q756fs +4 more)	Deletion (frameshift variant)	Short-rib thoracic dysplasia 8 with or without polydactyly	GUncertain significance
Select item 446624	NM_052844.4(DYNC2I2):c.1397A>C (p.Gln466Pro)	DYNC2I2 (Q466P)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446623	NM_052844.4(DYNC2I2):c.1060A>G (p.Thr354Ala)	LOC126860772, DYNC2I2 (T354A)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446598	NM_001377.3(DYNC2H1):c.193A>C (p.Thr65Pro)	DYNC2H1 (T65P)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446561	NM_001377.3(DYNC2H1):c.195G>T (p.Thr65=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446610	NM_001377.3(DYNC2H1):c.327C>G (p.Tyr109Ter)	DYNC2H1 (Y109*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 302000	NM_001377.3(DYNC2H1):c.337C>T (p.Arg113Trp)	DYNC2H1 (R113W)	Single nucleotide variant (missense variant)	Short rib-polydactyly syndrome +2 more	GUncertain significance
Select item 446586	NM_001377.3(DYNC2H1):c.625T>A (p.Phe209Ile)	DYNC2H1 (F209I)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GPathogenic/Likely pathogenic
Select item 446682	NM_001377.3(DYNC2H1):c.740G>A (p.Arg247Gln)	DYNC2H1 (R247Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 446575	NM_001377.3(DYNC2H1):c.767-2A>G	DYNC2H1	Single nucleotide variant (splice acceptor variant)	Jeune thoracic dystrophy	GPathogenic
Select item 40070	NM_001377.3(DYNC2H1):c.988C>T (p.Arg330Cys)	DYNC2H1 (R330C)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 446560	NM_001377.3(DYNC2H1):c.1078C>T (p.Arg360Ter)	DYNC2H1 (R360*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 446556	NM_001377.3(DYNC2H1):c.1306G>T (p.Glu436Ter)	DYNC2H1 (E436*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 199053	NM_001377.3(DYNC2H1):c.1360+2del	DYNC2H1	Deletion (splice donor variant)	DYNC2H1-related condition +2 more	GPathogenic/Likely pathogenic
Select item 446569	NM_001377.3(DYNC2H1):c.1657_1660del (p.Leu553fs)	DYNC2H1 (L553fs)	Deletion (frameshift variant)	DYNC2H1-related condition +1 more	GPathogenic
Select item 6506	NM_001377.3(DYNC2H1):c.1759C>T (p.Arg587Cys)	DYNC2H1 (R587C)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 446593	NM_001377.3(DYNC2H1):c.1847_1852del (p.Ile616_Leu617del)	DYNC2H1	Deletion (inframe_deletion)	DYNC2H1-related condition	GUncertain significance
Select item 446541	NM_001377.3(DYNC2H1):c.1949T>A (p.Ile650Asn)	DYNC2H1 (I650N)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 437419	NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 446566	NM_001377.3(DYNC2H1):c.2341T>G (p.Tyr781Asp)	DYNC2H1 (Y781D)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GPathogenic/Likely pathogenic
Select item 446537	NM_001377.3(DYNC2H1):c.3059T>G (p.Leu1020Ter)	DYNC2H1 (L1020*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 195661	NM_001377.3(DYNC2H1):c.3097-4A>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +2 more	GBenign
Select item 238270	NM_001377.3(DYNC2H1):c.3682C>A (p.Leu1228Ile)	DYNC2H1 (L1228I)	Single nucleotide variant (missense variant)	not provided +6 more	GConflicting classifications of pathogenicity
Select item 446680	NM_001377.3(DYNC2H1):c.3847G>C (p.Asp1283His)	DYNC2H1 (D1283H)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GConflicting classifications of pathogenicity
Select item 446562	NM_001377.3(DYNC2H1):c.4073G>A (p.Arg1358His)	DYNC2H1 (R1358H)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +3 more	GUncertain significance
Select item 446585	NM_001377.3(DYNC2H1):c.4162_4170dup (p.Val1388_Thr1390dup)	DYNC2H1	Duplication (inframe_insertion)	Asphyxiating thoracic dystrophy 3 +1 more	GPathogenic/Likely pathogenic
Select item 446611	NM_001377.3(DYNC2H1):c.4267C>T (p.Arg1423Cys)	DYNC2H1 (R1423C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 446678	NM_001377.3(DYNC2H1):c.4458del (p.Phe1486fs)	DYNC2H1 (F1486fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy	GPathogenic
Select item 373013	NM_001377.3(DYNC2H1):c.4625C>T (p.Ala1542Val)	DYNC2H1 (A1542V)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GLikely pathogenic
Select item 446551	NM_001377.3(DYNC2H1):c.4699C>G (p.Leu1567Val)	DYNC2H1 (L1567V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GPathogenic
Select item 446609	NM_001377.3(DYNC2H1):c.4820T>A (p.Ile1607Asn)	DYNC2H1 (I1607N)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446550	NM_001377.3(DYNC2H1):c.4964A>G (p.Tyr1655Cys)	DYNC2H1 (Y1655C)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446567	NM_001377.3(DYNC2H1):c.5129T>A (p.Val1710Asp)	DYNC2H1 (V1710D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 302051	NM_001377.3(DYNC2H1):c.5793G>C (p.Leu1931Phe)	DYNC2H1 (L1931F)	Single nucleotide variant (missense variant)	Neonatal respiratory distress +3 more	GConflicting classifications of pathogenicity
Select item 446582	NM_001377.3(DYNC2H1):c.5876T>A (p.Ile1959Asn)	DYNC2H1 (I1959N)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 419236	NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr)	DYNC2H1 (A1995T)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +3 more	GPathogenic/Likely pathogenic
Select item 216490	NM_001377.3(DYNC2H1):c.6047A>G (p.Tyr2016Cys)	DYNC2H1 (Y2016C)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 446568	NM_001377.3(DYNC2H1):c.6116G>A (p.Arg2039His)	DYNC2H1 (R2039H)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 446574	NM_001377.3(DYNC2H1):c.6271A>G (p.Asn2091Asp)	DYNC2H1 (N2091D)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GUncertain significance
Select item 617817	NM_001377.3(DYNC2H1):c.6387G>T (p.Trp2129Cys)	DYNC2H1 (W2129C)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 446572	NM_001377.3(DYNC2H1):c.6480T>A (p.Asn2160Lys)	DYNC2H1 (N2160K)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +1 more	GConflicting classifications of pathogenicity
Select item 446602	NM_001377.3(DYNC2H1):c.6545G>A (p.Cys2182Tyr)	DYNC2H1 (C2182Y)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446618	NM_001377.3(DYNC2H1):c.6562T>C (p.Phe2188Leu)	DYNC2H1 (F2188L)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446584	NM_001377.3(DYNC2H1):c.6574C>T (p.Leu2192Phe)	DYNC2H1 (L2192F)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 6507	NM_001377.3(DYNC2H1):c.6614G>A (p.Arg2205His)	DYNC2H1 (R2205H)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 446549	NM_001377.3(DYNC2H1):c.6634-2A>G	DYNC2H1	Single nucleotide variant (splice acceptor variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 617816	NM_001377.3(DYNC2H1):c.6834G>T (p.Trp2278Cys)	DYNC2H1 (W2278C)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 446594	NM_001377.3(DYNC2H1):c.6866T>C (p.Leu2289Pro)	DYNC2H1 (L2289P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 446552	NM_001377.3(DYNC2H1):c.6883T>C (p.Cys2295Arg)	DYNC2H1 (C2295R)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446539	NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr)	DYNC2H1 (A2304T)	Single nucleotide variant (missense variant)	DYNC2H1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 446606	NM_001377.3(DYNC2H1):c.7112C>T (p.Thr2371Ile)	DYNC2H1 (T2371I)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446576	NM_001377.3(DYNC2H1):c.7268C>A (p.Ser2423Tyr)	DYNC2H1 (S2423Y)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446600	NM_001377.3(DYNC2H1):c.7409C>G (p.Ala2470Gly)	DYNC2H1 (A2470G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 446535	NM_001377.3(DYNC2H1):c.7438-2A>G	DYNC2H1	Single nucleotide variant (splice acceptor variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 446605	NM_001377.3(DYNC2H1):c.7441C>T (p.Arg2481Ter)	DYNC2H1 (R2481*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +2 more	GPathogenic
Select item 446599	NM_001377.3(DYNC2H1):c.7525T>C (p.Tyr2509His)	DYNC2H1 (Y2509H)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446571	NM_001377.3(DYNC2H1):c.7577T>G (p.Ile2526Ser)	DYNC2H1 (I2526S)	Single nucleotide variant (missense variant)	DYNC2H1-related condition	GLikely pathogenic
Select item 446613	NM_001377.3(DYNC2H1):c.7594C>T (p.Arg2532Trp)	DYNC2H1 (R2532W)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +2 more	GConflicting classifications of pathogenicity
Select item 446548	NM_001377.3(DYNC2H1):c.7643T>C (p.Phe2548Ser)	DYNC2H1 (F2548S)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446538	NM_001377.3(DYNC2H1):c.7774_7782del (p.Leu2592_Pro2594del)	DYNC2H1	Deletion (inframe_deletion)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446533	NM_001377.3(DYNC2H1):c.7966C>T (p.Arg2656Cys)	DYNC2H1 (R2656C)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 446620	NM_001377.3(DYNC2H1):c.7967G>A (p.Arg2656His)	DYNC2H1 (R2656H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 446577	NM_001377.3(DYNC2H1):c.7967G>T (p.Arg2656Leu)	DYNC2H1 (R2656L)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446601	NM_001377.3(DYNC2H1):c.7984C>T (p.Arg2662Trp)	DYNC2H1 (R2662W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 40068	NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln)	DYNC2H1 (R2662Q)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 446607	NM_001377.3(DYNC2H1):c.8050G>T (p.Gly2684Ter)	DYNC2H1 (G2684*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 446603	NM_001377.3(DYNC2H1):c.8070C>G (p.Phe2690Leu)	DYNC2H1 (F2690L)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446590	NM_001377.3(DYNC2H1):c.8145C>A (p.Tyr2715Ter)	DYNC2H1 (Y2715*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 617818	NM_001377.3(DYNC2H1):c.8339T>C (p.Leu2780Ser)	DYNC2H1 (L2780S)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 6508	NM_001377.3(DYNC2H1):c.8512C>T (p.Arg2838Ter)	DYNC2H1 (R2838*)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3 +1 more	GPathogenic
Select item 446587	NM_001377.3(DYNC2H1):c.8729T>C (p.Leu2910Pro)	DYNC2H1 (L2910P)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy	GLikely pathogenic
Select item 446573	NM_001377.3(DYNC2H1):c.8769_8770del (p.Leu2924fs)	DYNC2H1 (L2924fs)	Microsatellite (frameshift variant)	Jeune thoracic dystrophy	GPathogenic
Select item 6503	NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)	DYNC2H1 (D3015G)	Single nucleotide variant (missense variant)	DYNC2H1-related condition +8 more	GConflicting classifications of pathogenicity
Select item 446543	NM_001377.3(DYNC2H1):c.9353+1G>A	DYNC2H1	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy	GPathogenic
Select item 446542	NM_001377.3(DYNC2H1):c.9565C>T (p.Gln3189Ter)	DYNC2H1 (Q3189*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 446540	NM_001377.3(DYNC2H1):c.9710-2A>G	DYNC2H1	Single nucleotide variant (splice acceptor variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446534	NM_001377.3(DYNC2H1):c.9844G>A (p.Asp3282Asn)	DYNC2H1 (D3289N +1 more)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 446536	NM_001377.3(DYNC2H1):c.10042+2T>G	DYNC2H1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic
Select item 439631	NM_001377.3(DYNC2H1):c.10142C>T (p.Pro3381Leu)	DYNC2H1 (P3388L +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GPathogenic/Likely pathogenic
Select item 423715	NM_001377.3(DYNC2H1):c.10198C>T (p.Arg3400Ter)	DYNC2H1 (R3407* +1 more)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 369661	NM_001377.3(DYNC2H1):c.10322T>C (p.Leu3441Pro)	DYNC2H1 (L3448P +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 446570	NM_001377.3(DYNC2H1):c.10573C>T (p.Arg3525Ter)	DYNC2H1 (R3532* +1 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 407155	NM_001377.3(DYNC2H1):c.10585C>T (p.Arg3529Ter)	DYNC2H1 (R3536* +1 more)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy	GPathogenic
Select item 617819	NM_001377.3(DYNC2H1):c.10594C>T (p.Gln3532Ter)	DYNC2H1 (Q3532* +1 more)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3	GLikely pathogenic
Select item 446581	NM_001377.3(DYNC2H1):c.10603C>T (p.Gln3535Ter)	DYNC2H1 (Q3542* +1 more)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 6501	NM_001377.3(DYNC2H1):c.11263A>G (p.Met3755Val)	DYNC2H1 (M3762V +1 more)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 446580	NM_001377.3(DYNC2H1):c.11270A>G (p.Gln3757Arg)	DYNC2H1 (Q3764R +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 446583	NM_001377.3(DYNC2H1):c.11713_11716del (p.Arg3905fs)	DYNC2H1 (R3905fs +1 more)	Deletion (frameshift variant)	Jeune thoracic dystrophy	GPathogenic
Select item 446615	NM_001377.3(DYNC2H1):c.11829C>G (p.Tyr3943Ter)	DYNC2H1 (Y3950* +1 more)	Single nucleotide variant (nonsense)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 198962	NM_001377.3(DYNC2H1):c.12410C>G (p.Pro4137Arg)	DYNC2H1 (P4144R +1 more)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 387691	NM_001377.3(DYNC2H1):c.12439C>T (p.Arg4147Cys)	DYNC2H1 (R4154C +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 446597	NM_001377.3(DYNC2H1):c.12466_12469del (p.Asp4156fs)	DYNC2H1 (D4163fs +1 more)	Deletion (frameshift variant)	Jeune thoracic dystrophy	GPathogenic
Select item 446608	NM_001377.3(DYNC2H1):c.12642_12643insT (p.Ile4215fs)	DYNC2H1 (I4222fs +1 more)	Insertion (frameshift variant)	Asphyxiating thoracic dystrophy 3	GPathogenic/Likely pathogenic
Select item 446547	NM_001377.3(DYNC2H1):c.12829A>G (p.Arg4277Gly)	DYNC2H1 (R4284G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

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Items: 97