ClinVar for Gene (Select 5947) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3152575	NM_002899.5(RBP1):c.164A>G (p.Asn55Ser)	COPB2-DT, RBP1 (N55S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3015818	NM_002899.5(RBP1):c.121C>T (p.Arg41Cys)	COPB2-DT, RBP1 (R41C)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3009190	NM_002899.5(RBP1):c.260-20C>T	RBP1, COPB2-DT	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 3007336	NM_002899.5(RBP1):c.540+5G>A	COPB2-DT, RBP1	Single nucleotide variant (intron 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 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 2982348	NM_002899.5(RBP1):c.127C>G (p.Pro43Ala)	COPB2-DT, RBP1 (P43A)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2973540	NM_002899.5(RBP1):c.46G>A (p.Ala16Thr)	COPB2-DT, RBP1 (A16T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2963176	NM_002899.5(RBP1):c.16G>A (p.Gly6Ser)	COPB2-DT, RBP1 (G6S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960255	NM_002899.5(RBP1):c.64C>T (p.Leu22=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2898551	NM_002899.5(RBP1):c.59G>T (p.Ser20Ile)	COPB2-DT, RBP1 (S20I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2895730	NM_002899.5(RBP1):c.17G>A (p.Gly6Asp)	COPB2-DT, RBP1 (G6D)	Single nucleotide variant (missense variant)	not provided	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 2889343	NM_002899.5(RBP1):c.134G>T (p.Ser45Ile)	COPB2-DT, RBP1 (S45I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2879080	NM_002899.5(RBP1):c.127C>T (p.Pro43Ser)	COPB2-DT, RBP1 (P43S)	Single nucleotide variant (missense variant +1 more)	not provided	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 2841621	NM_002899.5(RBP1):c.161C>A (p.Ala54Asp)	COPB2-DT, RBP1 (A54D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 2817399	NM_002899.5(RBP1):c.144G>A (p.Pro48=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant +1 more)	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 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 2792211	NM_002899.5(RBP1):c.258C>G (p.Leu86=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous 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 2788683	NM_002899.5(RBP1):c.333T>C (p.His111=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2739309	NM_002899.5(RBP1):c.519C>T (p.Ile173=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2728808	NM_002899.5(RBP1):c.246C>T (p.Tyr82=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2671581	Single allele	TFDP2, TRIM42 +26 more	Deletion	not provided	GPathogenic
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 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 2422208	NM_002899.5(RBP1):c.25C>T (p.Arg9Cys)	COPB2-DT, RBP1 (R9C)	Single nucleotide variant (missense variant)	not provided	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 2418356	NM_002899.5(RBP1):c.130G>A (p.Gly44Ser)	COPB2-DT, RBP1 (G44S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2418145	NM_002899.5(RBP1):c.65T>A (p.Leu22Gln)	COPB2-DT, RBP1 (L22Q)	Single nucleotide variant (missense variant)	not provided	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 2413880	NM_002899.5(RBP1):c.126T>C (p.Cys42=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2240608	NM_002899.5(RBP1):c.11C>G (p.Pro4Arg)	COPB2-DT, RBP1 (P4R)	Single nucleotide variant (missense variant)	not specified	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)	not provided +1 more	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 2190172	NM_002899.5(RBP1):c.125G>A (p.Cys42Tyr)	COPB2-DT, RBP1 (C42Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2186748	NM_002899.5(RBP1):c.110G>C (p.Ser37Thr)	COPB2-DT, RBP1 (S37T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2179818	NM_002899.5(RBP1):c.1A>G (p.Met1Val)	COPB2-DT, RBP1 (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2156513	NM_002899.5(RBP1):c.557G>C (p.Gly186Ala)	RBP1, COPB2-DT (G124A +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 2133876	NM_002899.5(RBP1):c.138C>G (p.Leu46=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 2114016	NM_002899.5(RBP1):c.104dup (p.Arg36fs)	COPB2-DT, RBP1 (R36fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2112599	NM_002899.5(RBP1):c.438+17A>C	COPB2-DT, LOC126806824 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2101670	NM_002899.5(RBP1):c.110G>A (p.Ser37Asn)	COPB2-DT, RBP1 (S37N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 2070700	NM_002899.5(RBP1):c.32G>C (p.Gly11Ala)	COPB2-DT, RBP1 (G11A)	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 2064821	NM_002899.5(RBP1):c.288C>G (p.Ala96=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2037596	NM_002899.5(RBP1):c.220T>C (p.Leu74=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2032432	NM_002899.5(RBP1):c.14C>G (p.Ala5Gly)	COPB2-DT, RBP1 (A5G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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
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 2000778	NM_002899.5(RBP1):c.119_120delinsAA (p.Ser40Lys)	COPB2-DT, RBP1 (S40K)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 1991927	NM_002899.5(RBP1):c.171C>T (p.Leu57=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant +1 more)	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 1984178	NM_002899.5(RBP1):c.531G>A (p.Glu177=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1984116	NM_002899.5(RBP1):c.1A>C (p.Met1Leu)	COPB2-DT, RBP1 (M1L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 1966341	NM_002899.5(RBP1):c.37C>T (p.Pro13Ser)	COPB2-DT, RBP1 (P13S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 1949953	NM_002899.5(RBP1):c.138C>T (p.Leu46=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1934295	NM_002899.5(RBP1):c.88C>T (p.Arg30Trp)	COPB2-DT, RBP1 (R30W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1933088	NM_002899.5(RBP1):c.128C>T (p.Pro43Leu)	COPB2-DT, RBP1 (P43L)	Single nucleotide variant (missense variant +1 more)	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 1929465	NM_002899.5(RBP1):c.378C>T (p.Asp126=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1926989	NM_002899.5(RBP1):c.153G>A (p.Pro51=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1925946	NM_002899.5(RBP1):c.45C>T (p.Val15=)	RBP1, COPB2-DT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1922602	NM_002899.5(RBP1):c.9T>C (p.Pro3=)	COPB2-DT, RBP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1917426	NM_002899.5(RBP1):c.10C>A (p.Pro4Thr)	COPB2-DT, RBP1 (P4T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1910793	NM_002899.5(RBP1):c.587T>A (p.Val196Glu)	COPB2-DT, RBP1 (V134E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1909784	NM_002899.5(RBP1):c.150_151delinsTG (p.Pro51Ala)	COPB2-DT, RBP1 (P51A)	Indel (missense variant +1 more)	not provided	GUncertain significance
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 1908605	NM_002899.5(RBP1):c.94G>A (p.Ala32Thr)	COPB2-DT, RBP1 (A32T)	Single nucleotide variant (missense variant +1 more)	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 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 1904726	NM_002899.5(RBP1):c.99C>G (p.His33Gln)	COPB2-DT, RBP1 (H33Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 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 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 1896271	NM_002899.5(RBP1):c.179del (p.Leu60fs)	COPB2-DT, RBP1 (L60fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1807815	GRCh37/hg19 3q13.31-26.31(chr3:116620308-172042292)x3	A4GNT, AADAC +303 more	Copy number gain	not provided	GPathogenic

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