"GeneDx"[submitter] AND "DYNC2H1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58918	GRCh38/hg38 11q14.1-22.3(chr11:78232836-106779420)x1	KBTBD3, KDM4D +528 more	Copy number loss	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 301993	NM_001377.3(DYNC2H1):c.-94G>T	DYNC2H1	Single nucleotide variant (5 prime UTR variant)	Asphyxiating thoracic dystrophy 3 +2 more	GBenign/Likely benign
Select item 514603	NM_001377.3(DYNC2H1):c.-40C>T	DYNC2H1	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 301995	NM_001377.3(DYNC2H1):c.21C>T (p.Asp7=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 506321	NM_001377.3(DYNC2H1):c.27G>T (p.Arg9=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 301996	NM_001377.3(DYNC2H1):c.195+7T>C	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3 +4 more	GConflicting classifications of pathogenicity
Select item 676692	NM_001377.3(DYNC2H1):c.195+96A>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208767	NM_001377.3(DYNC2H1):c.196-282G>A	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202750	NM_001377.3(DYNC2H1):c.196-260G>C	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1224371	NM_001377.3(DYNC2H1):c.244C>T (p.Arg82Ter)	DYNC2H1 (R82*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 992905	NM_001377.3(DYNC2H1):c.317G>A (p.Ser106Asn)	DYNC2H1 (S106N)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +3 more	GConflicting classifications of pathogenicity
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 511923	NM_001377.3(DYNC2H1):c.348C>T (p.Phe116=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1204913	NM_001377.3(DYNC2H1):c.366+22T>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 672990	NM_001377.3(DYNC2H1):c.367-136G>C	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1279042	NM_001377.3(DYNC2H1):c.367-33C>T	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278012	NM_001377.3(DYNC2H1):c.502+51A>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1187458	NM_001377.3(DYNC2H1):c.503-233C>T	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667688	NM_001377.3(DYNC2H1):c.503-198T>C	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 511587	NM_001377.3(DYNC2H1):c.503-18C>G	DYNC2H1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 992904	NM_001377.3(DYNC2H1):c.554G>A (p.Arg185His)	DYNC2H1 (R185H)	Single nucleotide variant (missense variant)	Asphyxiating thoracic dystrophy 3 +3 more	GConflicting classifications of pathogenicity
Select item 1222082	NM_001377.3(DYNC2H1):c.621+28T>C	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667689	NM_001377.3(DYNC2H1):c.621+235A>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 302004	NM_001377.3(DYNC2H1):c.645A>G (p.Leu215=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Short rib-polydactyly syndrome +4 more	GBenign/Likely benign
Select item 620383	NM_001377.3(DYNC2H1):c.739C>T (p.Arg247Ter)	DYNC2H1 (R247*)	Single nucleotide variant (nonsense)	Jeune thoracic dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 667690	NM_001377.3(DYNC2H1):c.766+309T>A	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 674030	NM_001377.3(DYNC2H1):c.767-270G>A	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246306	NM_001377.3(DYNC2H1):c.767-43del	DYNC2H1	Deletion (intron variant)	not provided	GBenign
Select item 302005	NM_001377.3(DYNC2H1):c.911A>T (p.Gln304Leu)	DYNC2H1 (Q304L)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GBenign/Likely benign
Select item 1350038	NM_001377.3(DYNC2H1):c.998A>C (p.Glu333Ala)	DYNC2H1 (E333A)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +2 more	GUncertain significance
Select item 302008	NM_001377.3(DYNC2H1):c.1021C>T (p.His341Tyr)	DYNC2H1 (H341Y)	Single nucleotide variant (missense variant)	Jeune thoracic dystrophy +3 more	GBenign/Likely benign
Select item 3365819	NM_001377.3(DYNC2H1):c.1122T>A (p.Asn374Lys)	DYNC2H1 (N374K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 421398	NM_001377.3(DYNC2H1):c.1135-11_1135-8del	DYNC2H1	Deletion (intron variant)	Asphyxiating thoracic dystrophy 3 +2 more	GLikely benign
Select item 446677	NM_001377.3(DYNC2H1):c.1151C>T (p.Ala384Val)	DYNC2H1 (A384V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 1318999	NM_001377.3(DYNC2H1):c.1157C>T (p.Ser386Phe)	DYNC2H1 (S386F)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 302010	NM_001377.3(DYNC2H1):c.1233A>G (p.Gln411=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 302011	NM_001377.3(DYNC2H1):c.1263C>A (p.Phe421Leu)	DYNC2H1 (F421L)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 426435	NM_001377.3(DYNC2H1):c.1288C>T (p.Arg430Cys)	DYNC2H1 (R430C)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 3369570	NM_001377.3(DYNC2H1):c.1297A>G (p.Ile433Val)	DYNC2H1 (I433V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1207525	NM_001377.3(DYNC2H1):c.1360+65G>A	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 302013	NM_001377.3(DYNC2H1):c.1367G>A (p.Arg456Gln)	DYNC2H1 (R456Q)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 287980	NM_001377.3(DYNC2H1):c.1484A>C (p.Lys495Thr)	DYNC2H1 (K495T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 993984	NM_001377.3(DYNC2H1):c.1485+19G>A	DYNC2H1	Single nucleotide variant (intron variant)	Jeune thoracic dystrophy +2 more	GBenign/Likely benign
Select item 1211481	NM_001377.3(DYNC2H1):c.1485+132A>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245684	NM_001377.3(DYNC2H1):c.1485+271T>C	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203772	NM_001377.3(DYNC2H1):c.1486-127G>A	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1195119	NM_001377.3(DYNC2H1):c.1486-113A>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2507295	NM_001377.3(DYNC2H1):c.1516C>T (p.Leu506Phe)	DYNC2H1 (L506F)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 386707	NM_001377.3(DYNC2H1):c.1661+16T>C	DYNC2H1	Single nucleotide variant (intron variant)	Asphyxiating thoracic dystrophy 3 +3 more	GBenign
Select item 1202939	NM_001377.3(DYNC2H1):c.1662-233C>T	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233745	NM_001377.3(DYNC2H1):c.1662-109dup	DYNC2H1	Duplication (intron variant)	not provided	GBenign
Select item 389244	NM_001377.3(DYNC2H1):c.1679G>A (p.Arg560Gln)	DYNC2H1 (R560Q)	Single nucleotide variant (missense variant)	not specified +1 more	GLikely benign
Select item 879398	NM_001377.3(DYNC2H1):c.1732C>G (p.Arg578Gly)	DYNC2H1 (R578G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1316079	NM_001377.3(DYNC2H1):c.1760G>T (p.Arg587Leu)	DYNC2H1 (R587L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 216489	NM_001377.3(DYNC2H1):c.1774C>T (p.Leu592Phe)	DYNC2H1 (L592F)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1227057	NM_001377.3(DYNC2H1):c.1857+90dup	DYNC2H1	Duplication (intron variant)	not provided	GBenign
Select item 1271456	NM_001377.3(DYNC2H1):c.1857+89_1857+90del	DYNC2H1	Deletion (intron variant)	not provided	GBenign
Select item 1262740	NM_001377.3(DYNC2H1):c.1857+90del	DYNC2H1	Deletion (intron variant)	not provided	GBenign
Select item 1185844	NM_001377.3(DYNC2H1):c.1857+91dup	DYNC2H1	Duplication (intron variant)	not provided	GLikely benign
Select item 669442	NM_001377.3(DYNC2H1):c.1857+218G>A	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203898	NM_001377.3(DYNC2H1):c.1858-127G>A	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189380	NM_001377.3(DYNC2H1):c.1858-81A>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 437419	NM_001377.3(DYNC2H1):c.1953G>A (p.Lys651=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 672810	NM_001377.3(DYNC2H1):c.1953+231A>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235215	NM_001377.3(DYNC2H1):c.1954-217A>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1208750	NM_001377.3(DYNC2H1):c.2106+178G>A	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207151	NM_001377.3(DYNC2H1):c.2106+199A>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202099	NM_001377.3(DYNC2H1):c.2107-246A>C	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 667691	NM_001377.3(DYNC2H1):c.2107-121C>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2429681	NM_001377.3(DYNC2H1):c.2183G>A (p.Gly728Asp)	DYNC2H1 (G728D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1318643	NM_001377.3(DYNC2H1):c.2194G>A (p.Val732Ile)	DYNC2H1 (V732I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1210925	NM_001377.3(DYNC2H1):c.2205+123_2205+127del	DYNC2H1	Deletion (intron variant)	not provided	GLikely benign
Select item 1296655	NM_001377.3(DYNC2H1):c.2205+177A>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270381	NM_001377.3(DYNC2H1):c.2206-329G>A	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 667692	NM_001377.3(DYNC2H1):c.2206-288A>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 574328	NM_001377.3(DYNC2H1):c.2235G>A (p.Trp745Ter)	DYNC2H1 (W745*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 302016	NM_001377.3(DYNC2H1):c.2244C>T (p.His748=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 392302	NM_001377.3(DYNC2H1):c.2289G>C (p.Met763Ile)	DYNC2H1 (M763I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 302018	NM_001377.3(DYNC2H1):c.2454G>A (p.Glu818=)	DYNC2H1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 2428960	NM_001377.3(DYNC2H1):c.2549T>A (p.Leu850Ter)	DYNC2H1 (L850*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 302021	NM_001377.3(DYNC2H1):c.2550G>A (p.Leu850=)	DYNC2H1	Single nucleotide variant (synonymous variant)	Jeune thoracic dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 558750	NM_001377.3(DYNC2H1):c.2574+1G>A	DYNC2H1	Single nucleotide variant (splice donor variant)	Jeune thoracic dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 675072	NM_001377.3(DYNC2H1):c.2574+113T>C	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 672991	NM_001377.3(DYNC2H1):c.2574+173A>C	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202181	NM_001377.3(DYNC2H1):c.2575-308A>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1217678	NM_001377.3(DYNC2H1):c.2575-276C>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1183194	NM_001377.3(DYNC2H1):c.2575-172T>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247910	NM_001377.3(DYNC2H1):c.2575-43G>T	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1223481	NM_001377.3(DYNC2H1):c.2702+122A>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1327628	NM_001377.3(DYNC2H1):c.2717A>G (p.Asp906Gly)	DYNC2H1 (D906G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 302022	NM_001377.3(DYNC2H1):c.2818+13T>C	DYNC2H1	Single nucleotide variant (intron variant)	not specified +3 more	GBenign/Likely benign
Select item 1204252	NM_001377.3(DYNC2H1):c.2818+23A>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231137	NM_001377.3(DYNC2H1):c.2818+176A>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 669443	NM_001377.3(DYNC2H1):c.2818+210A>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 188134	NM_001377.3(DYNC2H1):c.2860G>A (p.Glu954Lys)	DYNC2H1 (E954K)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 1287530	NM_001377.3(DYNC2H1):c.2946+97C>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1194909	NM_001377.3(DYNC2H1):c.2946+205del	DYNC2H1	Deletion (intron variant)	not provided	GLikely benign
Select item 667693	NM_001377.3(DYNC2H1):c.2946+287A>G	DYNC2H1	Single nucleotide variant (intron variant)	not provided	GBenign

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