"Molecular Genetics Laboratory, London Health Sciences Centre"[submitt - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 917008	NM_018972.4(GDAP1):c.-19C>T	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant)	Charcot-Marie-Tooth disease	GLikely benign
Select item 917004	NM_018972.4(GDAP1):c.4G>A (p.Ala2Thr)	GDAP1, LOC130000622 (A2T)	Single nucleotide variant (5 prime UTR variant +1 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917001	NM_018972.4(GDAP1):c.28G>A (p.Gly10Arg)	GDAP1, LOC130000622 (G10R)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917089	NM_018972.4(GDAP1):c.75G>A (p.Lys25=)	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A +1 more	GLikely benign
Select item 467775	NM_018972.4(GDAP1):c.90T>C (p.His30=)	GDAP1, LOC130000622	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease type 4A +3 more	GBenign/Likely benign
Select item 569560	NM_018972.4(GDAP1):c.112C>T (p.Gln38Ter)	GDAP1, LOC130000622 (Q38*)	Single nucleotide variant (5 prime UTR variant +2 more)	Charcot-Marie-Tooth disease +1 more	GPathogenic/Likely pathogenic
Select item 506605	NM_018972.4(GDAP1):c.117+12C>G	GDAP1, LOC130000622	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +2 more	GBenign/Likely benign
Select item 670530	NM_018972.4(GDAP1):c.117+28G>A	GDAP1, LOC130000622	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease recessive intermediate A +5 more	GBenign