RAB6A[gene] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 58165	GRCh38/hg38 11q13.4(chr11:73403238-73935284)x3	COA4, FAM168A +20 more	Copy number gain	See cases	GUncertain significance
Select item 144545	GRCh38/hg38 11q13.4(chr11:73574925-74133379)x3	C2CD3, COA4 +32 more	Copy number gain	See cases	GUncertain significance
Select item 58182	GRCh38/hg38 11q13.4(chr11:73647348-73927680)x3	COA4, LOC116216151 +15 more	Copy number gain	See cases	GUncertain significance
Select item 711714	NM_198896.2(RAB6A):c.614G>C (p.Gly205Ala)	RAB6A (G172A +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2533999	NM_198896.2(RAB6A):c.545A>C (p.Asp182Ala)	RAB6A (D182A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2642143	NM_198896.2(RAB6A):c.333C>T (p.Val111=)	RAB6A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 768466	NM_198896.2(RAB6A):c.184-122C>A	RAB6A	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2365775	NM_198896.2(RAB6A):c.21C>A (p.Phe7Leu)	RAB6A (F7L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2685411	GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1	ARAP1, ARAP1-AS2 +25 more	Copy number loss	not provided	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527650	GRCh37/hg19 11q13.4(chr11:73444963-73777547)	C2CD3, COA4 +6 more	Copy number gain	not specified	GUncertain significance
Select item 1527649	GRCh37/hg19 11q13.4(chr11:73323208-73593392)	COA4, MRPL48 +3 more	Copy number gain	not specified	GUncertain significance
Select item 1340460	GRCh37/hg19 11q13.4(chr11:73149024-73572314)x3	FAM168A, MRPL48 +2 more	Copy number gain	not provided	GLikely benign
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815440	GRCh37/hg19 11q13.4(chr11:73314584-73658201)x3	COA4, RAB6A +3 more	Copy number gain	not provided	GUncertain significance
Select item 686318	GRCh37/hg19 11q13.4(chr11:73395712-73788461)x3	C2CD3, COA4 +6 more	Copy number gain	not provided	GUncertain significance
Select item 686083	GRCh37/hg19 11q13.4(chr11:73128157-73788461)x4	C2CD3, COA4 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 563850	GRCh37/hg19 11q13.4(chr11:73254213-73770541)x3	COA4, UCP3 +8 more	Copy number gain	not provided	GUncertain significance
Select item 563843	GRCh37/hg19 11q13.4(chr11:73276899-73615810)x3	PLEKHB1, RAB6A +4 more	Copy number gain	not provided	GLikely benign
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 394189	GRCh37/hg19 11q13.4(chr11:73197127-73712308)x3	UCP3, COA4 +7 more	Copy number gain	See cases	GUncertain significance

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Items: 27