"Ambry Genetics"[submitter] AND "COPB2-DT"[gene] - ClinVar

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Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2221925	NM_004164.3(RBP2):c.242G>A (p.Arg81Gln)	COPB2-DT, RBP2 (R81Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294593	NM_004164.3(RBP2):c.176G>A (p.Arg59His)	RBP2, COPB2-DT (R59H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455810	NM_004164.3(RBP2):c.119C>T (p.Thr40Met)	COPB2-DT, RBP2 (T40M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256580	NM_004164.3(RBP2):c.107G>A (p.Arg36His)	RBP2, COPB2-DT (R36H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2327379	NM_004164.3(RBP2):c.46A>C (p.Asn16His)	RBP2, COPB2-DT (N16H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2510034	NM_004164.3(RBP2):c.12C>G (p.Asp4Glu)	COPB2-DT, RBP2 (D4E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1451081	NM_002899.5(RBP1):c.539T>C (p.Leu180Pro)	COPB2-DT, RBP1 (L180P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1906884	NM_002899.5(RBP1):c.530A>G (p.Glu177Gly)	COPB2-DT, RBP1 (E177G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2219280	NM_002899.5(RBP1):c.500G>A (p.Arg167His)	COPB2-DT, RBP1 (R105H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2545967	NM_002899.5(RBP1):c.385G>A (p.Val129Ile)	COPB2-DT, RBP1 (V67I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479330	NM_002899.5(RBP1):c.347C>T (p.Thr116Met)	COPB2-DT, RBP1 (T116M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1957088	NM_002899.5(RBP1):c.295C>A (p.Leu99Met)	COPB2-DT, RBP1 (L37M +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2288458	NM_002899.5(RBP1):c.211T>G (p.Trp71Gly)	COPB2-DT, RBP1 (W71G +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240608	NM_002899.5(RBP1):c.11C>G (p.Pro4Arg)	COPB2-DT, RBP1 (P4R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2248172	NM_001401600.1(NMNAT3):c.608C>T (p.Thr203Ile)	COPB2-DT, NMNAT3 (T114I +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2464762	NM_001401600.1(NMNAT3):c.452C>T (p.Ala151Val)	COPB2-DT, NMNAT3 (A114V +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2602351	NM_001401600.1(NMNAT3):c.409G>A (p.Asp137Asn)	COPB2-DT, NMNAT3 (D137N +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2280265	NM_001401600.1(NMNAT3):c.306C>A (p.Ser102Arg)	COPB2-DT, NMNAT3 (S102R +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2258370	NM_001401600.1(NMNAT3):c.271A>G (p.Met91Val)	COPB2-DT, NMNAT3 (M185V +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2206306	NM_001401600.1(NMNAT3):c.259C>A (p.Gln87Lys)	COPB2-DT, NMNAT3 (Q87K +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2520376	NM_001401600.1(NMNAT3):c.191G>A (p.Arg64Gln)	COPB2-DT, NMNAT3 (R64Q +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance
Select item 2461979	NM_001401600.1(NMNAT3):c.175G>A (p.Ala59Thr)	COPB2-DT, NMNAT3 (A59T +2 more)	Single nucleotide variant (missense variant +3 more)	Inborn genetic diseases	GUncertain significance

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Items: 22