Related gene-specific medical variations for Gene (Select 84084) - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3312205	NM_032144.3(RAB6C):c.31C>G (p.Leu11Val)	RAB6C, RAB6C-AS1 (L11V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3312204	NM_032144.3(RAB6C):c.247A>C (p.Ile83Leu)	RAB6C, RAB6C-AS1 (I83L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150830	NM_032144.3(RAB6C):c.277T>G (p.Tyr93Asp)	RAB6C, RAB6C-AS1 (Y93D)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150828	NM_032144.3(RAB6C):c.224T>A (p.Leu75His)	RAB6C, RAB6C-AS1 (L75H)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3150827	NM_032144.3(RAB6C):c.21C>A (p.Phe7Leu)	RAB6C, RAB6C-AS1 (F7L)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2521417	NM_032144.3(RAB6C):c.220C>T (p.Arg74Cys)	RAB6C, RAB6C-AS1 (R74C)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2336793	NM_032144.3(RAB6C):c.292G>A (p.Val98Ile)	RAB6C, RAB6C-AS1 (V98I)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2240787	NM_032144.3(RAB6C):c.307C>G (p.Gln103Glu)	RAB6C, RAB6C-AS1 (Q103E)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 814304	GRCh37/hg19 2q21.1(chr2:130166042-130784390)x3	RAB6C	Copy number gain	not provided	GLikely benign
Select item 441838	GRCh37/hg19 2q21.1(chr2:130166042-130784390)x3	RAB6C	Copy number gain	See cases	GUncertain significance