Related gene-specific medical variations for Gene (Select 1785) - ClinVar

Links from Gene

Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3375718	NM_001005361.3(DNM2):c.159C>T (p.Gly53=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3372033	NM_001005361.3(DNM2):c.127G>C (p.Gly43Arg)	DNM2, LOC130063529 (G43R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3341338	NM_001005361.3(DNM2):c.161G>A (p.Arg54Gln)	LOC130063529, DNM2 (R54Q)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 3248444	NC_000019.9:g.(?_10870394)_(10870507_?)dup	DNM2	Duplication	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 3248442	NC_000019.9:g.(?_10828919)_(10829099_?)del	DNM2	Deletion	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 3004974	NM_001005361.3(DNM2):c.109G>T (p.Val37Leu)	DNM2, LOC130063529 (V37L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2995862	NM_001005361.3(DNM2):c.-23_12del (p.Met1fs)	DNM2, LOC130063529 (M1fs)	Deletion (frameshift variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2896480	NM_001005361.3(DNM2):c.91C>T (p.Leu31=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2865603	NM_001005361.3(DNM2):c.96G>T (p.Pro32=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2785073	NM_001005361.3(DNM2):c.114C>A (p.Gly38=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2756566	NM_001005361.3(DNM2):c.105T>A (p.Ala35=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2585180	NM_001005361.3(DNM2):c.70G>A (p.Gly24Ser)	DNM2, LOC130063529 (G24S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2580181	NM_001005361.3(DNM2):c.37G>C (p.Val13Leu)	DNM2, LOC130063529 (V13L)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 2500365	NM_001005361.3(DNM2):c.32C>T (p.Pro11Leu)	DNM2, LOC130063529 (P11L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440974	NM_001005361.3(DNM2):c.304G>A (p.Glu102Lys)	DNM2 (E102K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440972	NM_001005361.3(DNM2):c.2588dup (p.Ala864fs)	DNM2 (A860fs +2 more)	Duplication (frameshift variant)	not provided	GUncertain significance
Select item 2440971	NM_001005361.3(DNM2):c.44A>G (p.Lys15Arg)	DNM2, LOC130063529 (K15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440969	NM_001005361.3(DNM2):c.293G>A (p.Arg98Gln)	DNM2 (R98Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440968	NM_001005361.3(DNM2):c.577G>T (p.Val193Phe)	DNM2 (V193F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440967	NM_001005361.3(DNM2):c.757G>T (p.Ala253Ser)	DNM2 (A253S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440964	NM_001005361.3(DNM2):c.634G>A (p.Glu212Lys)	DNM2 (E212K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440962	NM_001005361.3(DNM2):c.1925C>A (p.Thr642Asn)	DNM2 (T638N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440960	NM_001005361.3(DNM2):c.2610C>G (p.Asp870Glu)	DNM2 (D866E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2440958	NM_001005361.3(DNM2):c.1116T>A (p.Phe372Leu)	DNM2 (F372L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2193323	NM_001005361.3(DNM2):c.66C>T (p.Ser22=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2191729	NM_001005361.3(DNM2):c.99G>A (p.Gln33=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2141517	NM_001005361.3(DNM2):c.77G>C (p.Ser26Thr)	DNM2, LOC130063529 (S26T)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2112101	NM_001005361.3(DNM2):c.2059-13C>A	DNM2, MIR6793	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2022915	NM_001005361.3(DNM2):c.126C>A (p.Ala42=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 2015955	NM_001005361.3(DNM2):c.161+14G>A	DNM2, LOC130063529 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2002188	NM_001005361.3(DNM2):c.16A>G (p.Met6Val)	DNM2, LOC130063529 (M6V)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1952219	NM_001005361.3(DNM2):c.3G>T (p.Met1Ile)	DNM2, LOC130063529 (M1I)	Single nucleotide variant (missense variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1938434	NM_001005361.3(DNM2):c.33G>T (p.Pro11=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1935222	NM_001005361.3(DNM2):c.37G>A (p.Val13Ile)	DNM2, LOC130063529 (V13I)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1732046	NM_001005361.3(DNM2):c.34C>G (p.Leu12Val)	DNM2, LOC130063529 (L12V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1645297	NM_001005361.3(DNM2):c.126C>T (p.Ala42=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1629781	NM_001005361.3(DNM2):c.30C>T (p.Ile10=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1584901	NM_001005361.3(DNM2):c.46C>T (p.Leu16=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1559018	NM_001005361.3(DNM2):c.48G>A (p.Leu16=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1540252	NM_001005361.3(DNM2):c.45A>G (p.Lys15=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1535735	NM_001005361.3(DNM2):c.2059-20T>G	DNM2, MIR6793	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B	GBenign
Select item 1534416	NM_001005361.3(DNM2):c.161+15C>G	DNM2, LOC130063529 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1510665	NM_001005361.3(DNM2):c.41A>G (p.Asn14Ser)	DNM2, LOC130063529 (N14S)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1501042	NM_001005361.3(DNM2):c.69C>A (p.Ile23=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1470425	NM_001005361.3(DNM2):c.79T>G (p.Cys27Gly)	DNM2, LOC130063529 (C27G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1451113	NM_001005361.3(DNM2):c.102C>G (p.Ile34Met)	DNM2, LOC130063529 (I34M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1404112	NM_001005361.3(DNM2):c.161+6C>T	DNM2, LOC130063529 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GUncertain significance
Select item 1363378	NM_001005361.3(DNM2):c.95C>T (p.Pro32Leu)	DNM2, LOC130063529 (P32L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1362139	NM_001005361.3(DNM2):c.88G>A (p.Asp30Asn)	DNM2, LOC130063529 (D30N)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1129745	NM_001005361.3(DNM2):c.2059-4G>A	DNM2, MIR6793	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GLikely benign
Select item 1118686	NM_001005361.3(DNM2):c.161+7G>T	DNM2, LOC130063529 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1091743	NM_001005361.3(DNM2):c.63C>T (p.Ser21=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1081291	NM_001005361.3(DNM2):c.2059-8G>A	DNM2, MIR6793	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1054113	NM_001005361.3(DNM2):c.20A>G (p.Glu7Gly)	DNM2, LOC130063529 (E7G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1052474	NM_001005361.3(DNM2):c.65C>G (p.Ser22Cys)	DNM2, LOC130063529 (S22C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1032514	NM_001005361.3(DNM2):c.4G>A (p.Gly2Ser)	DNM2, LOC130063529 (G2S)	Single nucleotide variant (missense variant)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 1006755	NM_001005361.3(DNM2):c.90C>G (p.Asp30Glu)	LOC130063529, DNM2 (D30E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1000128	NM_001005361.3(DNM2):c.19G>C (p.Glu7Gln)	DNM2, LOC130063529 (E7Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 995082	NM_001005361.3(DNM2):c.603C>T (p.Ile201=)	DNM2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 995081	NM_001005361.3(DNM2):c.2183C>T (p.Ala728Val)	DNM2 (A724V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 995080	NM_001005361.3(DNM2):c.1598T>C (p.Leu533Pro)	DNM2 (L529P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 938106	NM_001005361.3(DNM2):c.160C>G (p.Arg54Gly)	DNM2, LOC130063529 (R54G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 937950	NM_001005361.3(DNM2):c.54C>A (p.Asp18Glu)	DNM2, LOC130063529 (D18E)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 930433	NM_001005361.3(DNM2):c.2376_2378del (p.Leu793del)	DNM2 (L793del +1 more)	Deletion (inframe_deletion)	Autosomal dominant centronuclear myopathy	GUncertain significance
Select item 892101	NM_001005361.3(DNM2):c.-116C>T	DNM2, LOC130063529	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 864130	NM_001005361.3(DNM2):c.72C>T (p.Gly24=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GLikely benign
Select item 859273	NM_001005361.3(DNM2):c.10C>T (p.Arg4Cys)	DNM2, LOC130063529 (R4C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 835727	NM_001005361.3(DNM2):c.5G>A (p.Gly2Asp)	DNM2, LOC130063529 (G2D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 811988	NM_001005361.3(DNM2):c.1110C>T (p.Phe370=)	DNM2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 808447	NM_001005361.3(DNM2):c.1547G>A (p.Gly516Glu)	DNM2 (G516E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 775047	NM_001005361.3(DNM2):c.57C>T (p.Ala19=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 703760	NM_001005361.3(DNM2):c.161+12_161+29dup	DNM2, LOC130063529 +1 more	Duplication (intron variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 676285	NM_001005361.3(DNM2):c.161+122C>A	DNM2, LOC130063529	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 644304	NM_001005361.3(DNM2):c.31C>T (p.Pro11Ser)	DNM2, LOC130063529 (P11S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 533837	NM_001005361.3(DNM2):c.81C>T (p.Cys27=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GLikely benign
Select item 533830	NM_001005361.3(DNM2):c.83A>T (p.His28Leu)	DNM2, LOC130063529 (H28L)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 533826	NM_001005361.3(DNM2):c.161+3G>A	DNM2, LOC130063529 +1 more	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 509375	NM_001005361.3(DNM2):c.2059-5C>T	DNM2, MIR6793	Single nucleotide variant (non-coding transcript variant +1 more)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GBenign/Likely benign
Select item 489196	NM_001005361.3(DNM2):c.142C>T (p.Leu48=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 465289	NM_001005361.3(DNM2):c.33G>A (p.Pro11=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GLikely benign
Select item 424401	NM_001005361.3(DNM2):c.8A>G (p.Asn3Ser)	DNM2, LOC130063529 (N3S)	Single nucleotide variant (missense variant)	Centronuclear myopathy	GBenign FDA Recognized database
Select item 422584	NM_001005361.3(DNM2):c.-48_-47delinsTTGAGGGTCGCCCG	DNM2, LOC130063529	Indel (5 prime UTR variant)	not specified	GLikely benign
Select item 391529	NM_001005361.3(DNM2):c.102C>A (p.Ile34=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GLikely benign
Select item 327972	NM_001005361.3(DNM2):c.-19G>T	DNM2, LOC130063529	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 327971	NM_001005361.3(DNM2):c.-122G>A	DNM2, LOC130063529	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GUncertain significance
Select item 327970	NM_001005361.3(DNM2):c.-153G>T	DNM2, LOC130063529	Single nucleotide variant (5 prime UTR variant)	Autosomal dominant centronuclear myopathy +1 more	GUncertain significance
Select item 288108	NM_001005361.3(DNM2):c.149A>G (p.Asn50Ser)	LOC130063529, DNM2 (N50S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 256863	NM_001005361.3(DNM2):c.1129-40C>T	DNM2	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 215776	NM_001005361.3(DNM2):c.90C>T (p.Asp30=)	LOC130063529, DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +2 more	GLikely benign
Select item 133977	NM_001005361.3(DNM2):c.164A>G (p.Asp55Gly)	DNM2 (D55G)	Single nucleotide variant (missense variant)	not specified	Gnot provided

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 90