C0270914[trait identifier] AND "Institute of Human Genetics, Cologne U - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 543291	NM_001365951.3(KIF1B):c.1771G>A (p.Gly591Arg)	KIF1B (G545R +1 more)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +2 more	GConflicting classifications of pathogenicity
Select item 2281	NM_014874.4(MFN2):c.310C>T (p.Arg104Trp)	MFN2 (R104W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease, axonal, autosomal recessive, type 2a2b; +7 more	GPathogenic
Select item 549683	NM_014874.4(MFN2):c.404G>A (p.Arg135Gln)	MFN2 (R135Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +1 more	GUncertain significance
Select item 30738	NM_014874.4(MFN2):c.1085C>T (p.Thr362Met)	MFN2 (T362M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +6 more	GPathogenic/Likely pathogenic
Select item 549694	NM_004370.6(COL12A1):c.1868A>G (p.Glu623Gly)	COL12A1 (E623G)	Single nucleotide variant (missense variant +1 more)	Ullrich congenital muscular dystrophy 2 +1 more	GUncertain significance
Select item 410314	NM_002047.4(GARS1):c.1415A>G (p.His472Arg)	GARS1 (H472R +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GPathogenic

ClinVar