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

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 464094	NM_004637.6(RAB7A):c.21G>A (p.Val7=)	RAB7A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +3 more	GLikely benign
Select item 343157	NM_004637.6(RAB7A):c.87G>A (p.Val29=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B +3 more	GBenign/Likely benign
Select item 464093	NM_004637.6(RAB7A):c.180+9A>G	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease +3 more	GLikely benign
Select item 382127	NM_004637.6(RAB7A):c.183A>C (p.Ile61=)	RAB7A	Single nucleotide variant (synonymous variant)	not specified +3 more	GLikely benign
Select item 138863	NM_004637.6(RAB7A):c.219C>T (p.Leu73=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B +3 more	GBenign
Select item 532743	NM_004637.6(RAB7A):c.321C>T (p.Leu107=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B +2 more	GLikely benign
Select item 917244	NM_004637.6(RAB7A):c.331A>G (p.Ser111Gly)	RAB7A (S111G)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease	GUncertain significance
Select item 917245	NM_004637.6(RAB7A):c.400-17C>G	RAB7A	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease type 2B +1 more	GLikely benign
Select item 285287	NM_004637.6(RAB7A):c.423C>G (p.Ala141=)	RAB7A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +4 more	GBenign/Likely benign
Select item 917246	NM_004637.6(RAB7A):c.529-11T>G	RAB7A, LOC112872299	Single nucleotide variant (intron variant)	Charcot-Marie-Tooth disease	GLikely benign