ClinVar for Gene (Select 693223) - ClinVar - NCBI

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Links from Gene

Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 649075	NC_000019.9:g.(?_10828899)_(10897402_?)dup	DNM2, LOC130063529 +9 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B	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 153250	GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1	AP1M2, ATG4D +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	LOC130063636, LOC130063637 +434 more	Copy number loss	See cases	GPathogenic
Select item 147570	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3	AP1M2, ATG4D +116 more	Copy number gain	See cases	GPathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	ANGPTL6, AP1M2 +184 more	Copy number loss	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 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	ACP5, ANGPTL6 +536 more	Copy number gain	See cases	GLikely pathogenic