"DYNC2H1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3055149	NM_001377.3(DYNC2H1):c.520G>A (p.Asp174Asn)	DYNC2H1 (D174N)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder	GUncertain significance
Select item 811271	NM_001377.3(DYNC2H1):c.899A>G (p.His300Arg)	DYNC2H1 (H300R)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder +1 more	GUncertain significance
Select item 435002	NM_001377.3(DYNC2H1):c.954A>G (p.Lys318=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 302007	NM_001377.3(DYNC2H1):c.1007C>T (p.Ala336Val)	DYNC2H1 (A336V)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 302011	NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu)	DYNC2H1 (F421L)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 199053	NM_001377.3(DYNC2H1):c.1360+2del	DYNC2H1	Deletion (splice donor variant)	Jeune thoracic dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 2636427	NM_001377.3(DYNC2H1):c.1361-2A>T	DYNC2H1	Single nucleotide variant (splice acceptor variant)	DYNC2H1-related disorder	GLikely pathogenic
Select item 2905294	NM_001377.3(DYNC2H1):c.1366C>T (p.Arg456Ter)	DYNC2H1 (R456*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 287980	NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr)	DYNC2H1 (K495T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 446569	NM_001377.3(DYNC2H1):c.1657_1660del (p.Leu553fs)	DYNC2H1 (L553fs)	Deletion (frameshift variant)	DYNC2H1-related disorder +1 more	GPathogenic
Select item 446593	NM_001377.3(DYNC2H1):c.1847_1852del (p.Ile616_Leu617del)	DYNC2H1	Deletion (inframe_deletion)	DYNC2H1-related disorder	GUncertain significance
Select item 3034399	NM_001377.3(DYNC2H1):c.1954-3T>C	DYNC2H1	Single nucleotide variant (intron variant)	DYNC2H1-related disorder	GLikely benign
Select item 194348	NM_001377.3(DYNC2H1):c.1966G>A (p.Gly656Arg)	DYNC2H1 (G656R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2629358	NM_001377.3(DYNC2H1):c.2147A>G (p.Gln716Arg)	DYNC2H1 (Q716R)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder	GUncertain significance
Select item 2914204	NM_001377.3(DYNC2H1):c.2370C>T (p.Pro790=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 695548	NM_001377.3(DYNC2H1):c.2482A>G (p.Met828Val)	DYNC2H1 (M828V)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2634598	NM_001377.3(DYNC2H1):c.2622G>T (p.Lys874Asn)	DYNC2H1 (K874N)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder	GUncertain significance
Select item 2005794	NM_001377.3(DYNC2H1):c.2636T>C (p.Val879Ala)	DYNC2H1 (V879A)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder +1 more	GUncertain significance
Select item 2632607	NM_001377.3(DYNC2H1):c.2684A>G (p.Glu895Gly)	DYNC2H1 (E895G)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder	GUncertain significance
Select item 2431209	NM_001377.3(DYNC2H1):c.2692C>T (p.Arg898Ter)	DYNC2H1 (R898*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 877838	NM_001377.3(DYNC2H1):c.2935C>T (p.Arg979Trp)	DYNC2H1 (R979W)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 195660	NM_001377.3(DYNC2H1):c.3181C>G (p.Leu1061Val)	DYNC2H1 (L1061V)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +4 more	GConflicting classifications of pathogenicity
Select item 2955389	NM_001377.3(DYNC2H1):c.3414A>G (p.Gln1138=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 188353	NM_001377.3(DYNC2H1):c.3500A>G (p.His1167Arg)	DYNC2H1 (H1167R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 302030	NM_001377.3(DYNC2H1):c.3735C>T (p.Ala1245=)	DYNC2H1	Single nucleotide variant (synonymous variant)	DYNC2H1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 281763	NM_001377.3(DYNC2H1):c.3744+9C>T	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +2 more	GBenign/Likely benign
Select item 2632787	NM_001377.3(DYNC2H1):c.4047G>A (p.Trp1349Ter)	DYNC2H1 (W1349*)	Single nucleotide variant (nonsense)	DYNC2H1-related disorder	GLikely pathogenic
Select item 618076	NM_001377.3(DYNC2H1):c.4053T>C (p.Tyr1351=)	DYNC2H1	Single nucleotide variant (synonymous variant)	DYNC2H1-related disorder +2 more	GLikely benign
Select item 1499889	NM_001377.3(DYNC2H1):c.4369C>A (p.Leu1457Ile)	DYNC2H1 (L1457I)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder +2 more	GUncertain significance
Select item 3029316	NM_001377.3(DYNC2H1):c.4397T>C (p.Phe1466Ser)	DYNC2H1 (F1466S)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder	GUncertain significance
Select item 695216	NM_001377.3(DYNC2H1):c.4899T>C (p.Tyr1633=)	DYNC2H1	Single nucleotide variant (synonymous variant)	DYNC2H1-related disorder +1 more	GLikely benign
Select item 290754	NM_001377.3(DYNC2H1):c.5047C>T (p.Leu1683Phe)	DYNC2H1 (L1683F)	Single nucleotide variant (missense variant)	not provided +5 more	GConflicting classifications of pathogenicity
Select item 302041	NM_001377.3(DYNC2H1):c.5177G>A (p.Arg1726Gln)	DYNC2H1 (R1726Q)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 407162	NM_001377.3(DYNC2H1):c.5547del (p.Phe1849fs)	DYNC2H1 (F1849fs)	Deletion (frameshift variant)	Jeune thoracic dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 2720605	NM_001377.3(DYNC2H1):c.5675-10T>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 167010	NM_001377.3(DYNC2H1):c.5695G>A (p.Val1899Ile)	DYNC2H1 (V1899I)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +4 more	GConflicting classifications of pathogenicity
Select item 2904848	NM_001377.3(DYNC2H1):c.5757T>C (p.Asp1919=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 167012	NM_001377.3(DYNC2H1):c.5821G>C (p.Ala1941Pro)	DYNC2H1 (A1941P)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GUncertain significance
Select item 419236	NM_001377.3(DYNC2H1):c.5983G>A (p.Ala1995Thr)	DYNC2H1 (A1995T)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 2636777	NM_001377.3(DYNC2H1):c.6139+2T>C	DYNC2H1	Single nucleotide variant (splice donor variant)	DYNC2H1-related disorder +1 more	GLikely pathogenic
Select item 446554	NM_001377.3(DYNC2H1):c.6265A>G (p.Asn2089Asp)	DYNC2H1 (N2089D)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder	GLikely pathogenic
Select item 281769	NM_001377.3(DYNC2H1):c.6551A>T (p.Asp2184Val)	DYNC2H1 (D2184V)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 302055	NM_001377.3(DYNC2H1):c.6558C>T (p.Asp2186=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +4 more	GConflicting classifications of pathogenicity
Select item 2629504	NM_001377.3(DYNC2H1):c.6880G>A (p.Gly2294Arg)	DYNC2H1 (G2294R)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder	GUncertain significance
Select item 446539	NM_001377.3(DYNC2H1):c.6910G>A (p.Ala2304Thr)	DYNC2H1 (A2304T)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 281774	NM_001377.3(DYNC2H1):c.6918A>G (p.Ser2306=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 2969926	NM_001377.3(DYNC2H1):c.6975A>G (p.Arg2325=)	DYNC2H1	Single nucleotide variant (synonymous variant)	DYNC2H1-related disorder +1 more	GLikely benign
Select item 1403002	NM_001377.3(DYNC2H1):c.7115G>A (p.Ser2372Asn)	DYNC2H1 (S2372N)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder +1 more	GUncertain significance
Select item 283128	NM_001377.3(DYNC2H1):c.7149G>A (p.Thr2383=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 699576	NM_001377.3(DYNC2H1):c.7242A>G (p.Arg2414=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 2860733	NM_001377.3(DYNC2H1):c.7438-9C>G	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 802716	NM_001377.3(DYNC2H1):c.7442G>A (p.Arg2481Gln)	DYNC2H1 (R2481Q)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 459282	NM_001377.3(DYNC2H1):c.7576A>G (p.Ile2526Val)	DYNC2H1 (I2526V)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder +2 more	GBenign/Likely benign
Select item 446571	NM_001377.3(DYNC2H1):c.7577T>G (p.Ile2526Ser)	DYNC2H1 (I2526S)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder	GLikely pathogenic
Select item 2897023	NM_001377.3(DYNC2H1):c.7709A>G (p.Asp2570Gly)	DYNC2H1 (D2570G)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 696555	NM_001377.3(DYNC2H1):c.7797T>G (p.Leu2599=)	DYNC2H1	Single nucleotide variant (synonymous variant)	DYNC2H1-related disorder +2 more	GLikely benign
Select item 302068	NM_001377.3(DYNC2H1):c.8311+10A>G	DYNC2H1	Single nucleotide variant (intron variant)	DYNC2H1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2631381	NM_001377.3(DYNC2H1):c.8312-2A>G	DYNC2H1	Single nucleotide variant (splice acceptor variant)	DYNC2H1-related disorder	GPathogenic
Select item 696537	NM_001377.3(DYNC2H1):c.8361A>C (p.Ser2787=)	DYNC2H1	Single nucleotide variant (synonymous variant)	DYNC2H1-related disorder +2 more	GLikely benign
Select item 1579630	NM_001377.3(DYNC2H1):c.8661A>G (p.Lys2887=)	DYNC2H1	Single nucleotide variant (synonymous variant)	DYNC2H1-related disorder +1 more	GLikely benign
Select item 698443	NM_001377.3(DYNC2H1):c.8831A>G (p.Gln2944Arg)	DYNC2H1 (Q2944R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 93530	NM_001377.3(DYNC2H1):c.8881G>A (p.Ala2961Thr)	DYNC2H1 (A2961T)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +4 more	GBenign/Likely benign
Select item 725863	NM_001377.3(DYNC2H1):c.8943A>G (p.Val2981=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 281766	NM_001377.3(DYNC2H1):c.8960A>C (p.Glu2987Ala)	DYNC2H1 (E2987A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 879966	NM_001377.3(DYNC2H1):c.8991C>T (p.Pro2997=)	DYNC2H1	Single nucleotide variant (synonymous variant)	DYNC2H1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 6503	NM_001377.3(DYNC2H1):c.9044A>G (p.Asp3015Gly)	DYNC2H1 (D3015G)	Single nucleotide variant (missense variant)	Fetal growth restriction +7 more	GConflicting classifications of pathogenicity
Select item 699826	NM_001377.3(DYNC2H1):c.9178A>C (p.Arg3060=)	DYNC2H1	Single nucleotide variant (synonymous variant)	DYNC2H1-related disorder +2 more	GLikely benign
Select item 302079	NM_001377.3(DYNC2H1):c.9231+12G>A	DYNC2H1	Single nucleotide variant (intron variant)	DYNC2H1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 198017	NM_001377.3(DYNC2H1):c.9254C>T (p.Ala3085Val)	DYNC2H1 (A3085V)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 3031458	NM_001377.3(DYNC2H1):c.9301C>T (p.His3101Tyr)	DYNC2H1 (H3101Y)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder	GUncertain significance
Select item 3038797	NM_001377.3(DYNC2H1):c.9558G>T (p.Trp3186Cys)	DYNC2H1 (W3186C)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder	GUncertain significance
Select item 446546	NM_001377.3(DYNC2H1):c.9760_9764del (p.Trp3253_Lys3254insTer)	DYNC2H1	Deletion (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 215778	NM_001377.3(DYNC2H1):c.9814T>A (p.Leu3272Ile)	DYNC2H1 (L3272I)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +4 more	GConflicting classifications of pathogenicity
Select item 2717586	NM_001377.3(DYNC2H1):c.9820-8del	DYNC2H1	Deletion (intron variant)	Jeune thoracic dystrophy +1 more	GBenign/Likely benign
Select item 695351	NM_001377.3(DYNC2H1):c.10048C>T (p.Arg3350Cys)	DYNC2H1 (R3357C +1 more)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1358587	NM_001377.3(DYNC2H1):c.10183A>G (p.Thr3395Ala)	DYNC2H1 (T3402A +1 more)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder +2 more	GUncertain significance
Select item 2156126	NM_001377.3(DYNC2H1):c.10407A>C (p.Ala3469=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 302097	NM_001377.3(DYNC2H1):c.10845G>A (p.Pro3615=)	DYNC2H1	Single nucleotide variant (synonymous variant)	DYNC2H1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 302099	NM_001377.3(DYNC2H1):c.10876G>A (p.Val3626Met)	DYNC2H1 (V3633M +1 more)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder +5 more	GConflicting classifications of pathogenicity
Select item 446555	NM_001377.3(DYNC2H1):c.10900C>T (p.Pro3634Ser)	DYNC2H1 (P3641S +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 459275	NM_001377.3(DYNC2H1):c.10966A>G (p.Met3656Val)	DYNC2H1 (M3663V +1 more)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GBenign
Select item 774211	NM_001377.3(DYNC2H1):c.11095+9G>A	DYNC2H1	Single nucleotide variant (intron variant)	DYNC2H1-related disorder +1 more	GLikely benign
Select item 302108	NM_001377.3(DYNC2H1):c.11238C>T (p.Ser3746=)	DYNC2H1	Single nucleotide variant (synonymous variant)	DYNC2H1-related disorder +4 more	GConflicting classifications of pathogenicity
Select item 3050906	NM_001377.3(DYNC2H1):c.11257-2A>G	DYNC2H1	Single nucleotide variant (splice acceptor variant)	DYNC2H1-related disorder	GLikely pathogenic
Select item 807596	NM_001377.3(DYNC2H1):c.11312C>T (p.Ala3771Val)	DYNC2H1 (A3778V +1 more)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 699017	NM_001377.3(DYNC2H1):c.11382+7_11382+16del	DYNC2H1	Deletion (intron variant)	DYNC2H1-related disorder +1 more	GLikely benign
Select item 302112	NM_001377.3(DYNC2H1):c.11649+4A>T	DYNC2H1	Single nucleotide variant (intron variant)	DYNC2H1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2628492	NM_001377.3(DYNC2H1):c.11725+2T>C	DYNC2H1	Single nucleotide variant (splice donor variant)	DYNC2H1-related disorder	GPathogenic
Select item 3053651	NM_001377.3(DYNC2H1):c.11927G>A (p.Ser3976Asn)	DYNC2H1 (S3976N +1 more)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder	GUncertain significance
Select item 877290	NM_001377.3(DYNC2H1):c.11970C>T (p.Asp3990=)	DYNC2H1	Single nucleotide variant (synonymous variant)	DYNC2H1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2630978	NM_001377.3(DYNC2H1):c.12027G>A (p.Met4009Ile)	DYNC2H1 (M4009I +1 more)	Single nucleotide variant (missense variant)	DYNC2H1-related disorder	GUncertain significance
Select item 2800910	NM_001377.3(DYNC2H1):c.12030C>A (p.Ile4010=)	DYNC2H1	Single nucleotide variant (synonymous variant)	DYNC2H1-related disorder +1 more	GLikely benign
Select item 2173401	NM_001377.3(DYNC2H1):c.12153C>T (p.Asn4051=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +1 more	GLikely benign
Select item 279579	NM_001377.3(DYNC2H1):c.12366+8A>G	DYNC2H1	Single nucleotide variant (intron variant)	Short rib-polydactyly syndrome +3 more	GConflicting classifications of pathogenicity

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Items: 94