COPB2-DT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 154258	GRCh38/hg38 3q11.1-24(chr3:93800620-145695381)x3	PDIA5, PHLDB2 +1344 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC115995524, LOC115995525 +2647 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC129937605, LOC129937606 +484 more	Copy number gain	See cases	GUncertain significance
Select item 152454	GRCh38/hg38 3q22.1-23(chr3:129817243-141425155)x1	A4GNT, ACAD11 +282 more	Copy number loss	See cases	GPathogenic
Select item 147358	GRCh38/hg38 3q22.1-24(chr3:129817243-143381624)x1	A4GNT, ACAD11 +345 more	Copy number loss	See cases	GPathogenic
Select item 155567	GRCh38/hg38 3q22.1-24(chr3:132716978-144784743)x1	A4GNT, AMOTL2 +301 more	Copy number loss	See cases	GPathogenic
Select item 149077	GRCh38/hg38 3q22.2-25.1(chr3:134257180-149729538)x1	LOC129937630, LOC129937631 +320 more	Copy number loss	See cases	GPathogenic
Select item 151765	GRCh38/hg38 3q22.2-23(chr3:134333553-141701458)x1	A4GNT, AMOTL2 +167 more	Copy number loss	See cases	GPathogenic
Select item 57832	GRCh38/hg38 3q22.2-24(chr3:135227451-145870770)x1	A4GNT, ARMC8 +221 more	Copy number loss	See cases	GPathogenic
Select item 145313	GRCh38/hg38 3q22.3-24(chr3:137932000-144468739)x1	A4GNT, ARMC8 +171 more	Copy number loss	See cases	GPathogenic
Select item 150251	GRCh38/hg38 3q22.3-24(chr3:137991123-143618786)x1	A4GNT, ARMC8 +155 more	Copy number loss	See cases	GPathogenic
Select item 147602	GRCh38/hg38 3q22.3-23(chr3:138629115-140055056)x3	BPESC1, CLSTN2 +39 more	Copy number gain	See cases	GPathogenic
Select item 2221925	NM_004164.3(RBP2):c.242G>A (p.Arg81Gln)	COPB2-DT, RBP2 (R81Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152576	NM_004164.3(RBP2):c.217G>A (p.Glu73Lys)	COPB2-DT, RBP2 (E73K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294593	NM_004164.3(RBP2):c.176G>A (p.Arg59His)	COPB2-DT, RBP2 (R59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455810	NM_004164.3(RBP2):c.119C>T (p.Thr40Met)	COPB2-DT, RBP2 (T40M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256580	NM_004164.3(RBP2):c.107G>A (p.Arg36His)	COPB2-DT, RBP2 (R36H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3152579	NM_004164.3(RBP2):c.92G>A (p.Arg31His)	COPB2-DT, RBP2 (R31H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152578	NM_004164.3(RBP2):c.77T>C (p.Ile26Thr)	COPB2-DT, RBP2 (I26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 154230	GRCh38/hg38 3q23(chr3:139466635-140108900)x3	CLSTN2, COPB2-DT +12 more	Copy number gain	See cases	GUncertain significance
Select item 149950	GRCh38/hg38 3q23(chr3:139468925-140102684)x3	CLSTN2, COPB2-DT +12 more	Copy number gain	See cases	GUncertain significance
Select item 3313368	NM_004164.3(RBP2):c.65A>G (p.Lys22Arg)	COPB2-DT, RBP2 (K22R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327379	NM_004164.3(RBP2):c.46A>C (p.Asn16His)	COPB2-DT, RBP2 (N16H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3152577	NM_004164.3(RBP2):c.23C>T (p.Thr8Ile)	COPB2-DT, RBP2 (T8I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2510034	NM_004164.3(RBP2):c.12C>G (p.Asp4Glu)	COPB2-DT, RBP2 (D4E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2420290	NM_002899.5(RBP1):c.592T>A (p.Ter198Arg)	COPB2-DT, RBP1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1910793	NM_002899.5(RBP1):c.587T>A (p.Val196Glu)	RBP1, COPB2-DT (V134E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2139146	NM_002899.5(RBP1):c.562G>T (p.Val188Phe)	COPB2-DT, RBP1 (V188F +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2156513	NM_002899.5(RBP1):c.557G>C (p.Gly186Ala)	COPB2-DT, RBP1 (G124A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1932905	NM_002899.5(RBP1):c.541-18C>T	COPB2-DT, RBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1547186	NM_002899.5(RBP1):c.540+20C>G	COPB2-DT, RBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007336	NM_002899.5(RBP1):c.540+5G>A	COPB2-DT, RBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1908365	NM_002899.5(RBP1):c.540+5G>T	COPB2-DT, RBP1	Single nucleotide variant (intron variant)	not provided	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 specified +1 more	GUncertain significance
Select item 2078589	NM_002899.5(RBP1):c.537C>G (p.His179Gln)	COPB2-DT, RBP1 (H117Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1984178	NM_002899.5(RBP1):c.531G>A (p.Glu177=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1906884	NM_002899.5(RBP1):c.530A>G (p.Glu177Gly)	COPB2-DT, RBP1 (E177G +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2868212	NM_002899.5(RBP1):c.524G>T (p.Gly175Val)	COPB2-DT, RBP1 (G175V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2739309	NM_002899.5(RBP1):c.519C>T (p.Ile173=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1899141	NM_002899.5(RBP1):c.511C>T (p.Gln171Ter)	COPB2-DT, RBP1 (Q109* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2192882	NM_002899.5(RBP1):c.510C>T (p.Thr170=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085311	NM_002899.5(RBP1):c.502G>A (p.Gly168Ser)	COPB2-DT, RBP1 (G168S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1627045	NM_002899.5(RBP1):c.501T>C (p.Arg167=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2219280	NM_002899.5(RBP1):c.500G>A (p.Arg167His)	COPB2-DT, RBP1 (R105H +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2418106	NM_002899.5(RBP1):c.490_492del (p.Lys164del)	COPB2-DT, RBP1 (K102del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2817623	NM_002899.5(RBP1):c.491A>C (p.Lys164Thr)	COPB2-DT, RBP1 (K102T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1901029	NM_002899.5(RBP1):c.465G>T (p.Lys155Asn)	COPB2-DT, RBP1 (K155N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007434	NM_002899.5(RBP1):c.460G>C (p.Asp154His)	COPB2-DT, RBP1 (D154H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004843	NM_002899.5(RBP1):c.457G>T (p.Gly153Ter)	COPB2-DT, RBP1 (G91* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1563901	NM_002899.5(RBP1):c.456C>T (p.Asp152=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1391358	NM_002899.5(RBP1):c.448A>G (p.Ser150Gly)	COPB2-DT, RBP1 (S150G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803734	NM_002899.5(RBP1):c.443C>T (p.Thr148Ile)	COPB2-DT, RBP1 (T86I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2901834	NM_002899.5(RBP1):c.439A>G (p.Thr147Ala)	COPB2-DT, RBP1 (T85A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790070	NM_002899.5(RBP1):c.439-4G>T	COPB2-DT, RBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 57796	GRCh38/hg38 3q23(chr3:139525129-140095577)x3	CLSTN2, COPB2-DT +10 more	Copy number gain	See cases	GUncertain significance
Select item 1586963	NM_002899.5(RBP1):c.438+20T>C	COPB2-DT, LOC126806824 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2112599	NM_002899.5(RBP1):c.438+17A>C	RBP1, COPB2-DT +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2816637	NM_002899.5(RBP1):c.438+13G>T	COPB2-DT, LOC126806824 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1590247	NM_002899.5(RBP1):c.438+13G>C	COPB2-DT, LOC126806824 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1448093	NM_002899.5(RBP1):c.438+3G>A	COPB2-DT, LOC126806824 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2006599	NM_002899.5(RBP1):c.436A>G (p.Met146Val)	COPB2-DT, LOC126806824 +1 more (M146V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000166	NM_002899.5(RBP1):c.427C>G (p.Arg143Gly)	COPB2-DT, LOC126806824 +1 more (R143G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1512330	NM_002899.5(RBP1):c.427C>T (p.Arg143Cys)	COPB2-DT, LOC126806824 +1 more (R81C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1972811	NM_002899.5(RBP1):c.416G>T (p.Gly139Val)	COPB2-DT, LOC126806824 +1 more (G139V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2742033	NM_002899.5(RBP1):c.409C>G (p.Leu137Val)	COPB2-DT, LOC126806824 +1 more (L137V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2118585	NM_002899.5(RBP1):c.406G>A (p.Asp136Asn)	COPB2-DT, LOC126806824 +1 more (D136N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2066296	NM_002899.5(RBP1):c.405G>T (p.Glu135Asp)	COPB2-DT, LOC126806824 +1 more (E73D +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 156390	NM_002899.5(RBP1):c.387_400del (p.Lys131fs)	COPB2-DT, RBP1 (K131fs +1 more)	Deletion (frameshift variant)	not provided	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)	not specified	GUncertain significance
Select item 1929465	NM_002899.5(RBP1):c.378C>T (p.Asp126=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2176993	NM_002899.5(RBP1):c.369C>T (p.Tyr123=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1473606	NM_002899.5(RBP1):c.366C>G (p.Asn122Lys)	COPB2-DT, RBP1 (N122K +1 more)	Single nucleotide variant (missense variant)	not provided	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)	not specified	GUncertain significance
Select item 2126940	NM_002899.5(RBP1):c.341T>C (p.Ile114Thr)	COPB2-DT, RBP1 (I114T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 791955	NM_002899.5(RBP1):c.334A>G (p.Met112Val)	COPB2-DT, RBP1 (M112V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2788683	NM_002899.5(RBP1):c.333T>C (p.His111=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1507821	NM_002899.5(RBP1):c.320A>G (p.Gln107Arg)	COPB2-DT, RBP1 (Q107R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918418	NM_002899.5(RBP1):c.315C>T (p.Ile105=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1957088	NM_002899.5(RBP1):c.295C>A (p.Leu99Met)	COPB2-DT, RBP1 (L37M +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2064821	NM_002899.5(RBP1):c.288C>G (p.Ala96=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1902814	NM_002899.5(RBP1):c.277C>A (p.Arg93Ser)	COPB2-DT, RBP1 (R31S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009190	NM_002899.5(RBP1):c.260-20C>T	COPB2-DT, RBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1634592	NM_002899.5(RBP1):c.260-20C>G	COPB2-DT, RBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1960740	NM_002899.5(RBP1):c.259+14G>A	COPB2-DT, RBP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2032180	NM_002899.5(RBP1):c.259+4A>T	COPB2-DT, RBP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2792211	NM_002899.5(RBP1):c.258C>G (p.Leu86=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2061480	NM_002899.5(RBP1):c.257T>G (p.Leu86Arg)	COPB2-DT, RBP1 (L24R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728808	NM_002899.5(RBP1):c.246C>T (p.Tyr82=)	RBP1, COPB2-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1909380	NM_002899.5(RBP1):c.243G>A (p.Glu81=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1660003	NM_002899.5(RBP1):c.240G>A (p.Glu80=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2823952	NM_002899.5(RBP1):c.228C>A (p.Asn76Lys)	COPB2-DT, RBP1 (N14K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2037596	NM_002899.5(RBP1):c.220T>C (p.Leu74=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1982703	NM_002899.5(RBP1):c.218T>C (p.Met73Thr)	COPB2-DT, RBP1 (M11T +1 more)	Single nucleotide variant (missense variant)	not provided	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)	not specified	GUncertain significance
Select item 2894996	NM_002899.5(RBP1):c.210C>T (p.Tyr70=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986388	NM_002899.5(RBP1):c.206G>A (p.Gly69Glu)	COPB2-DT, RBP1 (G7E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1944207	NM_002899.5(RBP1):c.196G>T (p.Asp66Tyr)	COPB2-DT, RBP1 (D4Y +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1547446	NM_002899.5(RBP1):c.192A>G (p.Pro64=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2970866	NM_002899.5(RBP1):c.188T>C (p.Met63Thr)	COPB2-DT, RBP1 (M1T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2017360	NM_002899.5(RBP1):c.179T>A (p.Leu60His)	COPB2-DT, RBP1 (L60H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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