DYNC1I1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 105

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 153321	GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1	ASB4, BET1 +110 more	Copy number loss	See cases	GPathogenic
Select item 146112	GRCh38/hg38 7q21.3(chr7:95127070-97873487)x1	ASB4, ASNS +61 more	Copy number loss	See cases	GPathogenic
Select item 2558516	NM_001135556.2(DYNC1I1):c.29A>G (p.Glu10Gly)	DYNC1I1 (E10G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1613744	NM_001135556.2(DYNC1I1):c.33A>G (p.Leu11=)	DYNC1I1	Single nucleotide variant (synonymous variant)	DYNC1I1-related condition +1 more	GLikely benign
Select item 3016375	NM_001135556.2(DYNC1I1):c.36G>A (p.Glu12=)	DYNC1I1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2051910	NM_001135556.2(DYNC1I1):c.79C>T (p.Arg27Trp)	DYNC1I1 (R27W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 402810	NM_001135556.2(DYNC1I1):c.108+7C>G	DYNC1I1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 402813	NM_001135556.2(DYNC1I1):c.109-7C>T	DYNC1I1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1599379	NM_001135556.2(DYNC1I1):c.140A>C (p.Gln47Pro)	DYNC1I1 (Q47P)	Single nucleotide variant (missense variant)	DYNC1I1-related condition +1 more	GBenign
Select item 2712451	NM_001135556.2(DYNC1I1):c.187C>T (p.Leu63=)	DYNC1I1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1555588	NM_001135556.2(DYNC1I1):c.216G>A (p.Pro72=)	DYNC1I1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 2974257	NM_001135556.2(DYNC1I1):c.223+10A>T	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267410	NM_001135556.2(DYNC1I1):c.223+171del	DYNC1I1	Deletion (intron variant)	not provided	GBenign
Select item 1224657	NM_001135556.2(DYNC1I1):c.223+189dup	DYNC1I1	Duplication (intron variant)	not provided	GBenign
Select item 1285939	NM_001135556.2(DYNC1I1):c.224-140dup	DYNC1I1	Duplication (intron variant)	not provided	GBenign
Select item 730484	NM_001135556.2(DYNC1I1):c.224-49C>G	DYNC1I1 (Q76E)	Single nucleotide variant (missense variant +1 more)	DYNC1I1-related condition +1 more	GBenign
Select item 2198707	NM_001135556.2(DYNC1I1):c.224-45C>T	DYNC1I1 (P77L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3050717	NM_001135556.2(DYNC1I1):c.294C>A (p.Gly98=)	DYNC1I1	Single nucleotide variant (synonymous variant)	DYNC1I1-related condition	GLikely benign
Select item 2329376	NM_001135556.2(DYNC1I1):c.302G>C (p.Gly101Ala)	DYNC1I1 (G118A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1496433	NM_001135556.2(DYNC1I1):c.305C>T (p.Pro102Leu)	DYNC1I1 (P119L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1283591	NM_001135556.2(DYNC1I1):c.314+55_314+56dup	DYNC1I1	Duplication (intron variant)	not provided	GBenign
Select item 1279828	NM_001135556.2(DYNC1I1):c.314+56dup	DYNC1I1	Duplication (intron variant)	not provided	GBenign
Select item 1294648	NM_001135556.2(DYNC1I1):c.315-209C>T	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221778	NM_001135556.2(DYNC1I1):c.315-171C>T	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295008	NM_001135556.2(DYNC1I1):c.315-145G>C	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178858	NM_001135556.2(DYNC1I1):c.315-113G>A	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294715	NM_001135556.2(DYNC1I1):c.375-129C>A	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248667	NM_001135556.2(DYNC1I1):c.375-12T>C	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178988	NM_001135556.2(DYNC1I1):c.414A>G (p.Gln138=)	DYNC1I1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1633580	NM_001135556.2(DYNC1I1):c.490+19T>C	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1232831	NM_001135556.2(DYNC1I1):c.491-200A>C	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2281112	NM_001135556.2(DYNC1I1):c.512T>C (p.Met171Thr)	DYNC1I1 (M151T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2717306	NM_001135556.2(DYNC1I1):c.518A>G (p.Glu173Gly)	DYNC1I1 (E153G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 711004	NM_001135556.2(DYNC1I1):c.544C>A (p.Leu182Met)	DYNC1I1 (L179M +3 more)	Single nucleotide variant (missense variant)	DYNC1I1-related condition +1 more	GBenign
Select item 2624266	NM_001135556.2(DYNC1I1):c.578A>C (p.Glu193Ala)	DYNC1I1 (E210A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1272739	NM_001135556.2(DYNC1I1):c.581-105G>C	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259002	NM_001135556.2(DYNC1I1):c.581-49A>C	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2885086	NM_001135556.2(DYNC1I1):c.642C>G (p.Leu214=)	DYNC1I1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1669613	NM_001135556.2(DYNC1I1):c.642C>T (p.Leu214=)	DYNC1I1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2693755	NM_001135556.2(DYNC1I1):c.696C>T (p.Ser232=)	DYNC1I1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 783496	NM_001135556.2(DYNC1I1):c.726G>A (p.Glu242=)	DYNC1I1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1294650	NM_001135556.2(DYNC1I1):c.743+107G>A	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257074	NM_001135556.2(DYNC1I1):c.743+178G>T	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252815	NM_001135556.2(DYNC1I1):c.743+194T>A	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225666	NM_001135556.2(DYNC1I1):c.744-59T>C	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221242	NM_001135556.2(DYNC1I1):c.744-38G>A	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2857879	NC_000007.14:g.95987057dup	DYNC1I1	Duplication	not provided	GUncertain significance
Select item 2386378	NM_001135556.2(DYNC1I1):c.788A>G (p.Tyr263Cys)	DYNC1I1 (Y260C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1226656	NM_001135556.2(DYNC1I1):c.844-149T>C	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258915	NM_001135556.2(DYNC1I1):c.844-71T>C	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 752484	NM_001135556.2(DYNC1I1):c.855G>A (p.Leu285=)	DYNC1I1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007431	NM_001135556.2(DYNC1I1):c.897A>T (p.Glu299Asp)	DYNC1I1 (E279D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2190844	NM_001135556.2(DYNC1I1):c.907G>A (p.Val303Met)	DYNC1I1 (V283M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2560196	NM_001135556.2(DYNC1I1):c.923A>G (p.Asn308Ser)	DYNC1I1 (N288S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2711715	NM_001135556.2(DYNC1I1):c.954C>T (p.Tyr318=)	DYNC1I1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2373568	NM_001135556.2(DYNC1I1):c.955G>A (p.Val319Ile)	DYNC1I1 (V319I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1286944	NM_001135556.2(DYNC1I1):c.969+75C>T	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1479857	NM_001135556.2(DYNC1I1):c.976G>C (p.Val326Leu)	DYNC1I1 (V306L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2710488	NM_001135556.2(DYNC1I1):c.984G>A (p.Ser328=)	DYNC1I1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2310921	NM_001135556.2(DYNC1I1):c.1120C>G (p.Pro374Ala)	DYNC1I1 (P391A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1435120	NM_001135556.2(DYNC1I1):c.1215G>A (p.Met405Ile)	DYNC1I1 (M422I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1533955	NM_001135556.2(DYNC1I1):c.1230+5G>A	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1628796	NM_001135556.2(DYNC1I1):c.1231-12G>A	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2235247	NM_001135556.2(DYNC1I1):c.1253A>G (p.Asn418Ser)	DYNC1I1 (N418S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3050061	NM_001135556.2(DYNC1I1):c.1254T>C (p.Asn418=)	DYNC1I1	Single nucleotide variant (synonymous variant)	DYNC1I1-related condition	GLikely benign
Select item 2523523	NM_001135556.2(DYNC1I1):c.1270G>T (p.Ala424Ser)	DYNC1I1 (A404S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1913077	NM_001135556.2(DYNC1I1):c.1318G>A (p.Val440Ile)	DYNC1I1 (V440I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2068304	NM_001135556.2(DYNC1I1):c.1323C>T (p.Gly441=)	DYNC1I1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2190209	NM_001135556.2(DYNC1I1):c.1346C>T (p.Thr449Met)	DYNC1I1 (T429M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2275199	NM_001135556.2(DYNC1I1):c.1366A>G (p.Lys456Glu)	DYNC1I1 (K436E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 402811	NM_001135556.2(DYNC1I1):c.1440C>A (p.Gly480=)	DYNC1I1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 1624070	NM_001135556.2(DYNC1I1):c.1596C>T (p.Ala532=)	DYNC1I1, LOC110121292	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1545765	NM_001135556.2(DYNC1I1):c.1638C>T (p.Asn546=)	LOC110121292, DYNC1I1	Single nucleotide variant (synonymous variant)	DYNC1I1-related condition +1 more	GLikely benign
Select item 1248478	NM_001135556.2(DYNC1I1):c.1651-73C>T	DYNC1I1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 402812	NM_001135556.2(DYNC1I1):c.1651-9C>A	DYNC1I1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 3046871	NM_001135556.2(DYNC1I1):c.1671C>T (p.Ala557=)	DYNC1I1	Single nucleotide variant (synonymous variant)	DYNC1I1-related condition	GLikely benign
Select item 2879547	NM_001135556.2(DYNC1I1):c.1678G>C (p.Gly560Arg)	DYNC1I1 (G560R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2906679	NM_001135556.2(DYNC1I1):c.1686C>T (p.Ser562=)	DYNC1I1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2247573	NM_001135556.2(DYNC1I1):c.1687G>A (p.Ala563Thr)	DYNC1I1 (A560T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459692	NM_001135556.2(DYNC1I1):c.1733T>C (p.Val578Ala)	DYNC1I1 (V575A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2589470	NM_001135556.2(DYNC1I1):c.1758G>T (p.Trp586Cys)	DYNC1I1 (W566C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2851073	NM_001135556.2(DYNC1I1):c.1768G>A (p.Val590Ile)	DYNC1I1 (V587I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1960795	NM_001135556.2(DYNC1I1):c.1771G>A (p.Gly591Arg)	DYNC1I1 (G571R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3001288	NM_001135556.2(DYNC1I1):c.1793A>G (p.Asn598Ser)	DYNC1I1, LOC110121293 (N595S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2975551	NM_001135556.2(DYNC1I1):c.1854C>T (p.Ser618=)	DYNC1I1, LOC110121293	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1270005	NM_001135556.2(DYNC1I1):c.*109T>C	DYNC1I1, LOC110121293	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign
Select item 3048939	NM_001278422.2(DYNC1I1):c.1773A>G (p.Leu591=)	DYNC1I1	Single nucleotide variant (synonymous variant)	DYNC1I1-related condition	GBenign
Select item 3039347	NM_001278422.2(DYNC1I1):c.*6T>C	DYNC1I1	Single nucleotide variant (3 prime UTR variant)	DYNC1I1-related condition	GBenign
Select item 2685252	GRCh37/hg19 7q21.3(chr7:94813388-96264152)x1	ASB4, C7orf76 +7 more	Copy number loss	not provided	GPathogenic
Select item 1808653	GRCh37/hg19 7q21.2-22.1(chr7:92721627-98311537)x1	ASB4, ASNS +34 more	Copy number loss	not provided	GPathogenic
Select item 1807695	GRCh37/hg19 7q21.3(chr7:95258682-96465856)x1	C7orf76, DYNC1I1 +2 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527378	GRCh37/hg19 7q21.3(chr7:94309218-95455621)	ASB4, DYNC1I1 +5 more	Copy number gain	not specified	GUncertain significance
Select item 1459945	NC_000007.13:g.(?_95434042)_(96747209_?)del	DYNC1I1, SDHAF3 +5 more	Deletion	not provided	GPathogenic
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 976777	GRCh37/hg19 7q21.3(chr7:93516132-95668733)	CASD1, COL1A2 +13 more	Copy number loss	Myoclonic dystonia 11	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563412	GRCh37/hg19 7q21.3(chr7:93285237-96280817)x1	C7orf76, CASD1 +15 more	Copy number loss	not provided	GPathogenic

<< First< Prev

Page of 2