1785[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 147570	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3	LOC130063493, LOC130063494 +116 more	Copy number gain	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 153250	GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1	AP1M2, ATG4D +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 1302859	NC_000019.10:g.10717821dup	DNM2	Duplication	not provided	GBenign
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 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 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 422584	NM_001005361.3(DNM2):c.-48_-47delinsTTGAGGGTCGCCCG	DNM2, LOC130063529	Indel (5 prime UTR variant)	not specified	GLikely benign
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 649075	NC_000019.9:g.(?_10828899)_(10897402_?)dup	DNM2, LOC130063529 +9 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 2500365	NM_001005361.3(DNM2):c.32C>T (p.Pro11Leu)	DNM2, LOC130063529 (P11L)	Single nucleotide variant (missense variant)	not provided	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 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 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 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 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 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 2440971	NM_001005361.3(DNM2):c.44A>G (p.Lys15Arg)	DNM2, LOC130063529 (K15R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 775047	NM_001005361.3(DNM2):c.57C>T (p.Ala19=)	LOC130063529, DNM2	Single nucleotide variant (synonymous variant)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 3372033	NM_001005361.3(DNM2):c.127G>C (p.Gly43Arg)	DNM2, LOC130063529 (G43R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 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 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 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 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 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 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 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 676285	NM_001005361.3(DNM2):c.161+122C>A	DNM2, LOC130063529	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1260607	NM_001005361.3(DNM2):c.161+228C>G	DNM2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678428	NM_001005361.3(DNM2):c.161+248G>C	DNM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 511947	NM_001005361.3(DNM2):c.162-16T>C	DNM2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2057301	NM_001005361.3(DNM2):c.162-15C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2151037	NM_001005361.3(DNM2):c.162-7dup	DNM2	Duplication (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GBenign
Select item 2187436	NM_001005361.3(DNM2):c.162-13C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 389358	NM_001005361.3(DNM2):c.162-12C>T	DNM2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2154294	NM_001005361.3(DNM2):c.162-9C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 512505	NM_001005361.3(DNM2):c.162-9C>G	DNM2	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 327973	NM_001005361.3(DNM2):c.162-9C>A	DNM2	Single nucleotide variant (intron variant)	Autosomal dominant centronuclear myopathy +1 more	GConflicting classifications of pathogenicity
Select item 1453775	NM_001005361.3(DNM2):c.162-8C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1128438	NM_001005361.3(DNM2):c.162-8C>G	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 696006	NM_001005361.3(DNM2):c.162-8C>A	DNM2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1394101	NM_001005361.3(DNM2):c.162-7C>G	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 509358	NM_001005361.3(DNM2):c.162-7C>T	DNM2	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GLikely benign
Select item 195103	NM_001005361.3(DNM2):c.162-7C>A	DNM2	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 511239	NM_001005361.3(DNM2):c.162-6del	DNM2	Deletion (intron variant)	Centronuclear myopathy	GBenign FDA Recognized database
Select item 1941603	NM_001005361.3(DNM2):c.162G>A (p.Arg54=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1002867	NM_001005361.3(DNM2):c.162G>C (p.Arg54=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 133977	NM_001005361.3(DNM2):c.164A>G (p.Asp55Gly)	DNM2 (D55G)	Single nucleotide variant (missense variant)	not specified	Gnot provided
Select item 3337044	NM_001005361.3(DNM2):c.166T>C (p.Phe56Leu)	DNM2 (F56L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2089429	NM_001005361.3(DNM2):c.168C>T (p.Phe56=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 1489952	NM_001005361.3(DNM2):c.170_192del (p.Leu57fs)	DNM2 (L57fs)	Deletion (frameshift variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 1089331	NM_001005361.3(DNM2):c.174C>T (p.Pro58=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B	GLikely benign
Select item 2885183	NM_001005361.3(DNM2):c.175C>T (p.Arg59Cys)	DNM2 (R59C)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease dominant intermediate B	GUncertain significance
Select item 533833	NM_001005361.3(DNM2):c.177C>A (p.Arg59=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GLikely benign
Select item 465282	NM_001005361.3(DNM2):c.177C>T (p.Arg59=)	DNM2	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease dominant intermediate B +1 more	GLikely benign

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