"GeneDx"[submitter] AND "LOC130063529"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 422584	NM_001005361.3(DNM2):c.-48_-47delinsTTGAGGGTCGCCCG	DNM2, LOC130063529	Indel (5 prime UTR variant)	not specified	GLikely benign
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 2500365	NM_001005361.3(DNM2):c.32C>T (p.Pro11Leu)	DNM2, LOC130063529 (P11L)	Single nucleotide variant (missense variant)	not provided	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 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 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 3375718	NM_001005361.3(DNM2):c.159C>T (p.Gly53=)	DNM2, LOC130063529	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 676285	NM_001005361.3(DNM2):c.161+122C>A	DNM2, LOC130063529	Single nucleotide variant (intron variant)	not provided	GLikely benign