RAB8B[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154848	GRCh38/hg38 15q22.2-26.3(chr15:59828460-101920998)x3	LOC130057806, LOC130057807 +1763 more	Copy number gain	See cases	GPathogenic
Select item 2313124	NM_016530.3(RAB8B):c.183A>G (p.Ile61Met)	RAB8B (I61M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341711	NM_016530.3(RAB8B):c.293A>G (p.Asn98Ser)	RAB8B (N98S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150840	NM_016530.3(RAB8B):c.421A>G (p.Ile141Val)	RAB8B (I141V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150841	NM_016530.3(RAB8B):c.565G>A (p.Val189Met)	RAB8B (V189M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608360	NM_016530.3(RAB8B):c.599G>T (p.Ser200Ile)	RAB8B (S200I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150842	NM_016530.3(RAB8B):c.608G>A (p.Arg203His)	RAB8B (R203H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 787429	NM_016530.3(RAB8B):c.615G>A (p.Ser205=)	RAB8B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2424797	NC_000015.9:g.(?_62146656)_(64747263_?)del	FBXL22, TLN2 +20 more	Deletion	not provided	GPathogenic
Select item 1807706	GRCh37/hg19 15q21.1-22.2(chr15:48589845-63543438)x3	ADAM10, ALDH1A2 +82 more	Copy number gain	not provided	GPathogenic
Select item 1024934	NC_000015.9:g.(?_32964879)_(91358519_?)dup	ALDH1A2, ALPK3 +472 more	Duplication	Familial colorectal cancer +1 more	GUncertain significance
Select item 833184	NC_000015.10:g.(?_63042820)_(63869153_?)dup	APH1B, CA12 +8 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 815728	GRCh37/hg19 15q22.2-22.31(chr15:63555363-63800908)x3	USP3, RAB8B +2 more	Copy number gain	not provided	GUncertain significance
Select item 560063	Single allele	ANKDD1A, APH1B +40 more	Deletion	Nemaline myopathy 6	GLikely pathogenic
Select item 560049	Single allele	AAGAB, ABHD17C +523 more	Duplication	not provided	GPathogenic
Select item 442893	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)x3	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 442892	GRCh37/hg19 15q11.2-26.3(chr15:22770422-102429112)	AAGAB, ABHD17C +559 more	Copy number gain	See cases	GPathogenic
Select item 395145	GRCh37/hg19 15q11.2-26.3(chr15:20733395-102511616)x4	CSK, CSNK1G1 +566 more	Copy number gain	See cases	GPathogenic
Select item 394887	GRCh37/hg19 15q15.1-26.3(chr15:41745084-102354798)x4	TRPM7, TSPAN3 +444 more	Copy number gain	See cases	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic

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Items: 20