C1263857[trait identifier] AND "Centre for Mendelian Genomics, Univers - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 217165	NM_014874.4(MFN2):c.707C>T (p.Thr236Met)	MFN2 (T236M)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2 +5 more	GConflicting classifications of pathogenicity
Select item 374111	NM_020919.4(ALS2):c.4022G>A (p.Arg1341His)	ALS2 (R1341H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +1 more	GUncertain significance
Select item 333595	NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser)	ALS2 (T827S)	Single nucleotide variant (missense variant)	Tip-toe gait +5 more	GConflicting classifications of pathogenicity
Select item 4200	NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe)	GDAP1 (L239F +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +11 more	GPathogenic/Likely pathogenic
Select item 523238	GRCh37/hg19 17p12(chr17:14215739-15422582)	CDRT4, HS3ST3B1 +4 more	Copy number loss	Steppage gait +3 more	GPathogenic
Select item 374064	NM_001145809.2(MYH14):c.1945+6G>A	MYH14	Single nucleotide variant (intron variant)	EMG abnormality +7 more	GUncertain significance

ClinVar