DNM3[gene] - ClinVar

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Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 58109	GRCh38/hg38 1q23.1-25.1(chr1:157747246-176021247)x3	ADAMTS4, ADCY10 +775 more	Copy number gain	See cases	GPathogenic
Select item 60042	GRCh38/hg38 1q23.3-25.1(chr1:161740907-173965154)x1	ADCY10, ALDH9A1 +406 more	Copy number loss	See cases	GPathogenic
Select item 155225	GRCh38/hg38 1q23.3-25.1(chr1:163382523-175877022)x1	LOC129388624, LOC129388625 +407 more	Copy number loss	See cases	GPathogenic
Select item 58111	GRCh38/hg38 1q23.3-25.2(chr1:164922655-180061589)x3	FAM163A, FAM20B +482 more	Copy number gain	See cases	GPathogenic
Select item 60045	GRCh38/hg38 1q24.1-25.1(chr1:166762832-175327423)x1	ADCY10, ANKRD45 +332 more	Copy number loss	See cases	GPathogenic
Select item 60046	GRCh38/hg38 1q24.2-25.1(chr1:168314822-175299299)x1	ANKRD45, ATP1B1 +232 more	Copy number loss	See cases	GPathogenic
Select item 148038	GRCh38/hg38 1q24.2-25.2(chr1:169218236-178075834)x1	ANKRD45, ASTN1 +239 more	Copy number loss	See cases	GPathogenic
Select item 155621	GRCh38/hg38 1q24.2-31.1(chr1:170036068-187555148)x1	MYOC, MYOCOS +540 more	Copy number loss	See cases	GPathogenic
Select item 154301	GRCh38/hg38 1q24.3-31.2(chr1:170929720-191065409)x1	LOC129932075, LOC129932076 +560 more	Copy number loss	See cases	GPathogenic
Select item 145519	GRCh38/hg38 1q24.3-31.1(chr1:171039975-186875957)x3	ABL2, ACBD6 +513 more	Copy number gain	See cases	GPathogenic
Select item 151361	GRCh38/hg38 1q24.3(chr1:171750391-171975263)x3	DNM3, DNM3-IT1 +7 more	Copy number gain	See cases	GLikely benign
Select item 2315822	NM_015569.5(DNM3):c.23A>G (p.Glu8Gly)	DNM3 (E8G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2319921	NM_015569.5(DNM3):c.169C>T (p.Leu57Phe)	DNM3 (L57F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2238980	NM_015569.5(DNM3):c.217C>T (p.Leu73Phe)	DNM3 (L73F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247010	NM_015569.5(DNM3):c.266A>G (p.Lys89Arg)	DNM3 (K89R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084782	NM_015569.5(DNM3):c.421A>T (p.Thr141Ser)	DNM3 (T141S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354091	NM_015569.5(DNM3):c.434T>C (p.Val145Ala)	DNM3 (V145A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2303824	NM_015569.5(DNM3):c.439G>T (p.Asp147Tyr)	DNM3 (D147Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2318279	NM_015569.5(DNM3):c.470G>T (p.Arg157Ile)	DNM3 (R157I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371256	NM_015569.5(DNM3):c.483G>A (p.Met161Ile)	DNM3 (M161I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084783	NM_015569.5(DNM3):c.719A>G (p.Lys240Arg)	DNM3 (K240R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304198	NM_015569.5(DNM3):c.760G>T (p.Ala254Ser)	DNM3 (A254S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084784	NM_015569.5(DNM3):c.788C>T (p.Pro263Leu)	DNM3 (P263L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639557	NM_015569.5(DNM3):c.789G>A (p.Pro263=)	DNM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 546617	NM_015569.5(DNM3):c.869G>A (p.Arg290Gln)	DNM3 (R290Q)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2511728	NM_015569.5(DNM3):c.937G>A (p.Ala313Thr)	DNM3 (A313T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2538967	NM_015569.5(DNM3):c.944A>C (p.Lys315Thr)	DNM3 (K315T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639558	NM_015569.5(DNM3):c.956C>A (p.Pro319Gln)	DNM3 (P319Q)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2282507	NM_015569.5(DNM3):c.1009G>T (p.Ala337Ser)	DNM3 (A337S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2457277	NM_015569.5(DNM3):c.1093A>G (p.Ile365Val)	DNM3 (I365V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2211301	NM_015569.5(DNM3):c.1192A>G (p.Ile398Val)	DNM3 (I398V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558514	NM_015569.5(DNM3):c.1261A>G (p.Lys421Glu)	DNM3 (K421E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2558515	NM_015569.5(DNM3):c.1267C>G (p.Pro423Ala)	DNM3 (P423A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084773	NM_015569.5(DNM3):c.1354C>G (p.Leu452Val)	DNM3 (L452V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2463666	NM_015569.5(DNM3):c.1394G>A (p.Arg465His)	DNM3 (R465H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 743313	NM_015569.5(DNM3):c.1422+8G>T	DNM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2639559	NM_015569.5(DNM3):c.1546-7T>C	DNM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2639560	NM_015569.5(DNM3):c.1546-4G>A	DNM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3084774	NM_015569.5(DNM3):c.1580T>C (p.Ile527Thr)	DNM3 (I537T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639561	NM_015569.5(DNM3):c.1662A>G (p.Glu554=)	DNM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2488449	NM_015569.5(DNM3):c.1670A>G (p.Lys557Arg)	DNM3 (K557R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2479092	NM_015569.5(DNM3):c.1970G>A (p.Arg657His)	DNM3 (R657H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2602690	NM_015569.5(DNM3):c.1990A>G (p.Met664Val)	DNM3 (M664V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2316995	NM_015569.5(DNM3):c.1996A>C (p.Ile666Leu)	DNM3 (I662L +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2493132	NM_015569.5(DNM3):c.2056A>C (p.Asn686His)	DNM3 (N682H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 791227	NM_015569.5(DNM3):c.2058C>T (p.Asn686=)	DNM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2595041	NM_015569.5(DNM3):c.2127G>A (p.Met709Ile)	DNM3 (M705I +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084775	NM_015569.5(DNM3):c.2155C>T (p.Arg719Trp)	DNM3 (R715W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374950	NM_015569.5(DNM3):c.2197C>T (p.Leu733Phe)	DNM3 (L733F +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084776	NM_015569.5(DNM3):c.2249C>G (p.Pro750Arg)	DNM3 (P756R +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084777	NM_015569.5(DNM3):c.2251C>T (p.Pro751Ser)	DNM3 (P747S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2402033	NM_015569.5(DNM3):c.2335C>T (p.Pro779Ser)	DNM3 (P785S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2639562	NM_015569.5(DNM3):c.2358C>T (p.Gly786=)	DNM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3084779	NM_015569.5(DNM3):c.2392C>A (p.Pro798Thr)	DNM3 (P804T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084780	NM_015569.5(DNM3):c.2395C>A (p.His799Asn)	DNM3 (H805N +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3084781	NM_015569.5(DNM3):c.2416C>T (p.Pro806Ser)	DNM3 (P812S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 715436	NM_015569.5(DNM3):c.2499G>A (p.Thr833=)	DNM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2366887	NM_015569.5(DNM3):c.2549G>A (p.Arg850His)	DNM3 (R846H +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3063521	GRCh37/hg19 1q24.2-31.1(chr1:167994071-187711459)x1	ABL2, ACBD6 +123 more	Copy number loss	not specified	GPathogenic
Select item 2685754	GRCh37/hg19 1q23.3-25.1(chr1:164571371-175708060)x1	ADCY10, ALDH9A1 +81 more	Copy number loss	not provided	GPathogenic
Select item 1809459	GRCh37/hg19 1q24.3(chr1:171186446-171907499)x3	DNM3, FMO1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808981	GRCh37/hg19 1q24.3(chr1:172268908-172389345)x1	DNM3	Copy number loss	not provided	GUncertain significance
Select item 1808980	GRCh37/hg19 1q24.3(chr1:172193303-172244386)x1	DNM3	Copy number loss	not provided	GUncertain significance
Select item 1808962	GRCh37/hg19 1q24.3(chr1:172365330-172399870)x1	C1orf105, DNM3	Copy number loss	not provided	GUncertain significance
Select item 1708181	GRCh37/hg19 1q24.3(chr1:171649657-172399870)x1	C1orf105, DNM3 +6 more	Copy number loss	See cases	GUncertain significance
Select item 1527404	GRCh37/hg19 1q24.3-31.3(chr1:171990029-195086758)	BRINP2, BRINP3 +101 more	Copy number loss	not specified	GPathogenic
Select item 1527393	GRCh37/hg19 1q24.3-25.1(chr1:171881608-175899893)	ANKRD45, C1orf105 +26 more	Copy number loss	not specified	GPathogenic
Select item 1527381	GRCh37/hg19 1q24.2-25.3(chr1:169873155-181823980)	METTL13, MIR199A2 +68 more	Copy number loss	not specified	GPathogenic
Select item 1527359	GRCh37/hg19 1q24.2-24.3(chr1:167391422-171843613)	ADCY10, ATP1B1 +39 more	Copy number loss	not specified	GPathogenic
Select item 1409896	NC_000001.10:g.(?_171605065)_(173962123_?)dup	ANKRD45, C1orf105 +22 more	Duplication	Autoimmune lymphoproliferative syndrome type 1	GUncertain significance
Select item 1367461	NC_000001.10:g.(?_171605065)_(173962123_?)del	ANKRD45, C1orf105 +22 more	Deletion	not provided	GUncertain significance
Select item 1340417	GRCh37/hg19 1q24.3(chr1:172283167-172322797)x1	DNM3	Copy number loss	not provided	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	CA14, CACNA1E +956 more	Duplication	Gastrointestinal stromal tumor +2 more	GUncertain significance
Select item 997045	GRCh37/hg19 1q24.3(chr1:172050936-172181677)	DNM3, DNM3OS +3 more	Copy number loss	Fetal growth restriction	GLikely pathogenic
Select item 814137	GRCh37/hg19 1q24.2-25.1(chr1:167430471-174635618)x1	METTL13, METTL18 +60 more	Copy number loss	not provided	GPathogenic
Select item 686908	GRCh37/hg19 1q24.3(chr1:172362787-172508698)x3	C1orf105, DNM3 +2 more	Copy number gain	not provided	GUncertain significance
Select item 625771	GRCh37/hg19 1q23.2-25.1(chr1:160369890-175796325)	ADCY10, ALDH9A1 +137 more	Copy number loss	not provided	GPathogenic
Select item 625613	GRCh37/hg19 1q24.2-25.3(chr1:169423492-180367623)	ABL2, ACBD6 +70 more	Copy number gain	not provided	GPathogenic
Select item 558766	Single allele	ANKRD45, ATP1B1 +51 more	Deletion	1q24q25 microdeletion syndrome	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +2014 more	Copy number gain	See cases	GPathogenic
Select item 395654	GRCh37/hg19 1q23.3-25.3(chr1:161676893-184071723)x1	SUCO, TADA1 +147 more	Copy number loss	See cases	GPathogenic

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Items: 83