Related gene-specific medical variations for Gene (Select 693223) - ClinVar

	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 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

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