DNM3[gene] and "single gene"[properties] - ClinVar

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

Search results

Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3273227	NM_015569.5(DNM3):c.182C>T (p.Ser61Leu)	DNM3 (S61L)	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 3349934	NM_015569.5(DNM3):c.1126A>C (p.Lys376Gln)	DNM3 (K376Q)	Single nucleotide variant (missense variant +1 more)	DNM3-related condition	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 3273228	NM_015569.5(DNM3):c.1618G>A (p.Val540Ile)	DNM3 (V550I +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 3273231	NM_015569.5(DNM3):c.2144A>T (p.Gln715Leu)	DNM3 (Q715L +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 3273229	NM_015569.5(DNM3):c.2308A>G (p.Thr770Ala)	DNM3 (T776A +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 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 1340417	GRCh37/hg19 1q24.3(chr1:172283167-172322797)x1	DNM3	Copy number loss	not provided	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 55