"Ambry Genetics"[submitter] AND "RAB7A"[gene] - ClinVar - NCBI

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Items: 16

	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 245880	NM_004637.6(RAB7A):c.167T>C (p.Leu56Pro)	RAB7A (L56P)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 387199	NM_004637.6(RAB7A):c.213G>A (p.Gln71=)	RAB7A	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
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 532742	NM_004637.6(RAB7A):c.414G>T (p.Arg138=)	RAB7A	Single nucleotide variant (synonymous 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 343159	NM_004637.6(RAB7A):c.495G>A (p.Ala165=)	RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B +2 more	GBenign/Likely benign
Select item 2266933	NM_004637.6(RAB7A):c.547T>A (p.Tyr183Asn)	LOC112872299, RAB7A (Y183N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 343160	NM_004637.6(RAB7A):c.552C>T (p.Asn184=)	LOC112872299, RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B +1 more	GLikely benign
Select item 574067	NM_004637.6(RAB7A):c.568A>G (p.Ile190Val)	LOC112872299, RAB7A (I190V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 939028	NM_004637.6(RAB7A):c.589C>T (p.Arg197Trp)	LOC112872299, RAB7A (R197W)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B +1 more	GUncertain significance
Select item 841119	NM_004637.6(RAB7A):c.590G>A (p.Arg197Gln)	LOC112872299, RAB7A (R197Q)	Single nucleotide variant (missense variant)	Charcot-Marie-Tooth disease type 2B +1 more	GUncertain significance
Select item 2389107	NM_004637.6(RAB7A):c.592G>A (p.Ala198Thr)	LOC112872299, RAB7A (A198T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 704349	NM_004637.6(RAB7A):c.603G>A (p.Ser201=)	LOC112872299, RAB7A	Single nucleotide variant (synonymous variant)	Charcot-Marie-Tooth disease type 2B +1 more	GLikely benign