RAB6C-AS1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 149324	GRCh38/hg38 2q14.3-21.1(chr2:127063206-130527454)x3	AMMECR1L, BIN1 +125 more	Copy number gain	See cases	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 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 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 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 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 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