Related gene-specific medical variations for Gene (Select 23321) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2437265	NM_015271.5(TRIM2):c.239C>T (p.Ala80Val)	TRIM2 (A53V +4 more)	Single nucleotide variant (missense variant +2 more)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 1331025	NM_015271.5(TRIM2):c.1903A>C (p.Ile635Leu)	TRIM2 (I483L +11 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2R	GUncertain significance
Select item 1319304	NM_015271.5(TRIM2):c.*2749G>C	TRIM2	Single nucleotide variant (3 prime UTR variant)	not provided	GUncertain significance
Select item 980701	GRCh37/hg19 4q31.3(chr4:153958118-154226148)x3	TRIM2	Copy number gain	not provided	GUncertain significance
Select item 809695	NM_015271.5(TRIM2):c.2_5dup (p.Arg3fs)	TRIM2 (R3fs)	Duplication (frameshift variant +3 more)	not provided	GLikely pathogenic
Select item 689544	NM_015271.5(TRIM2):c.1918G>T (p.Gly640Cys)	TRIM2 (G488C +4 more)	Single nucleotide variant (missense variant)	Peripheral axonal neuropathy	GUncertain significance
Select item 685172	GRCh37/hg19 4q31.3(chr4:153913975-154151769)x3	TRIM2	Copy number gain	not provided	GUncertain significance

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