RAB3D[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 more	Copy number loss	See cases	GPathogenic
Select item 60235	GRCh38/hg38 19p13.2(chr19:11138895-11549951)x3	ANGPTL8, CCDC159 +52 more	Copy number gain	See cases	GUncertain significance
Select item 144406	GRCh38/hg38 19p13.2-q13.31(chr19:11227942-44626354)x3	ABHD8, ACP5 +2135 more	Copy number gain	See cases	GPathogenic
Select item 2494515	NM_004283.4(RAB3D):c.561G>A (p.Met187Ile)	RAB3D, TSPAN16 (M187I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515527	NM_004283.4(RAB3D):c.532C>T (p.Arg178Cys)	RAB3D, TSPAN16 (R178C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3312153	NM_004283.4(RAB3D):c.529G>A (p.Glu177Lys)	RAB3D, TSPAN16 (E177K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548561	NM_004283.4(RAB3D):c.466G>A (p.Asp156Asn)	RAB3D (D156N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391691	NM_004283.4(RAB3D):c.437C>A (p.Pro146His)	RAB3D (P146H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150723	NM_004283.4(RAB3D):c.424G>A (p.Glu142Lys)	RAB3D (E142K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150722	NM_004283.4(RAB3D):c.353C>T (p.Thr118Met)	RAB3D (T118M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785611	NM_004283.4(RAB3D):c.347+8C>A	RAB3D	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3312152	NM_004283.4(RAB3D):c.277C>T (p.Arg93Trp)	RAB3D (R93W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309108	NM_004283.4(RAB3D):c.254G>A (p.Arg85His)	RAB3D (R85H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150721	NM_004283.4(RAB3D):c.253C>T (p.Arg85Cys)	RAB3D (R85C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496279	NM_004283.4(RAB3D):c.221A>G (p.Gln74Arg)	RAB3D (Q74R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3150719	NM_004283.4(RAB3D):c.172G>A (p.Asp58Asn)	RAB3D (D58N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3312154	NM_004283.4(RAB3D):c.143C>T (p.Thr48Ile)	RAB3D (T48I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649325	NM_004283.4(RAB3D):c.132C>T (p.Asp44=)	RAB3D	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2619305	NM_004283.4(RAB3D):c.122G>A (p.Arg41Gln)	RAB3D (R41Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383521	NM_004283.4(RAB3D):c.34C>T (p.Arg12Trp)	RAB3D (R12W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2423817	NC_000019.9:g.(?_11277234)_(13249220_?)dup	ACP5, ANGPTL8 +68 more	Duplication	not provided	GUncertain significance
Select item 2422498	NC_000019.9:g.(?_10828919)_(13482613_?)dup	ACP5, ANGPTL8 +81 more	Duplication	Charcot-Marie-Tooth disease dominant intermediate B +4 more	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 983187	GRCh37/hg19 19p13.2(chr19:10957601-11672041)x1	ANGPTL8, C19orf38 +22 more	Copy number loss	See cases	GPathogenic
Select item 972927	GRCh37/hg19 19p13.2(chr19:10642984-12810067)	ZNF653, ZNF69 +63 more	Copy number loss	not provided	Gnot provided
Select item 816066	GRCh37/hg19 19p13.2(chr19:11445773-12160664)x3	ELOF1, EPOR +23 more	Copy number gain	not provided	GUncertain significance
Select item 684477	Single allele	ACP5, ANGPTL8 +63 more	Deletion	not provided	Gnot provided
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic

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Items: 33