ClinVar for Gene (Select 5864) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3150709	NM_002866.5(RAB3A):c.122G>A (p.Arg41His)	RAB3A (R41H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487208	NM_002866.5(RAB3A):c.490G>A (p.Ala164Thr)	RAB3A (A164T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425279	NC_000019.9:g.(?_17927663)_(19312528_?)dup	ARMC6, ARRDC2 +44 more	Duplication	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 1	GUncertain significance
Select item 2401755	NM_002866.5(RAB3A):c.585C>A (p.Asp195Glu)	RAB3A (D195E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2362480	NM_002866.5(RAB3A):c.452G>A (p.Arg151Gln)	RAB3A (R151Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353614	NM_002866.5(RAB3A):c.464A>G (p.Asp155Gly)	RAB3A (D155G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294040	NM_002866.5(RAB3A):c.20C>G (p.Ser7Trp)	RAB3A (S7W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240387	NM_002866.5(RAB3A):c.427C>T (p.Arg143Trp)	RAB3A (R143W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223456	NM_002866.5(RAB3A):c.514G>A (p.Val172Ile)	RAB3A (V172I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208020	NM_002866.5(RAB3A):c.650A>C (p.Asp217Ala)	RAB3A (D217A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1335855	NM_002866.5(RAB3A):c.285T>C (p.Ala95=)	RAB3A	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 980194	GRCh37/hg19 19p13.12-12(chr19:14286624-20956753)x3	BST2, NWD1 +158 more	Copy number gain	not provided	GPathogenic
Select item 747100	NM_002866.5(RAB3A):c.472+10C>G	RAB3A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 726308	NM_002866.5(RAB3A):c.270A>G (p.Ala90=)	RAB3A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 394665	GRCh37/hg19 19p13.11(chr19:18304742-18311144)x3	MPV17L2, RAB3A	Copy number gain	See cases	GBenign
Select item 154877	GRCh38/hg38 19p13.11(chr19:18133970-18424117)x1	CIST1, GDF15 +51 more	Copy number loss	See cases	GUncertain significance
Select item 147522	GRCh38/hg38 19p13.12-12(chr19:15133594-24193591)x3	LOC130064107, LOC130064108 +574 more	Copy number gain	See cases	GPathogenic
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	LOC130064390, LOC130064391 +2135 more	Copy number gain	See cases	GPathogenic
Select item 60074	GRCh38/hg38 19p13.11(chr19:17922234-18463153)x1	ARRDC2, CCDC124 +85 more	Copy number loss	See cases	GPathogenic
Select item 59114	GRCh38/hg38 19p13.12-q11(chr19:13974677-27839676)x3	LOC130063908, LOC130063909 +695 more	Copy number gain	See cases	GPathogenic
Select item 57042	GRCh38/hg38 19p13.11-q13.11(chr19:17176767-34924150)x3	ABHD8, ANKLE1 +625 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 23