COPG1[gene] - ClinVar

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Items: 86

	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 154720	GRCh38/hg38 3q21.3-22.1(chr3:127607945-133566661)x1	LOC129937518, LOC129937519 +248 more	Copy number loss	See cases	GLikely pathogenic
Select item 3076245	NM_016128.4(COPG1):c.14T>C (p.Phe5Ser)	COPG1 (F5S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688299	NM_016128.4(COPG1):c.91-11T>C	COPG1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3268956	NM_016128.4(COPG1):c.95G>A (p.Arg32His)	COPG1 (R32H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268957	NM_016128.4(COPG1):c.97G>A (p.Val33Ile)	COPG1 (V33I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281655	NM_016128.4(COPG1):c.112C>T (p.Pro38Ser)	COPG1 (P38S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076250	NM_016128.4(COPG1):c.163A>C (p.Ile55Leu)	COPG1 (I55L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588440	NM_016128.4(COPG1):c.179A>T (p.His60Leu)	COPG1 (H60L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268962	NM_016128.4(COPG1):c.184G>C (p.Gly62Arg)	COPG1 (G62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348032	NM_016128.4(COPG1):c.191C>T (p.Thr64Met)	COPG1 (T64M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654119	NM_016128.4(COPG1):c.192G>A (p.Thr64=)	COPG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2547106	NM_016128.4(COPG1):c.253C>T (p.Arg85Cys)	COPG1 (R85C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654120	NM_016128.4(COPG1):c.257G>A (p.Arg86Gln)	COPG1 (R86Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2345345	NM_016128.4(COPG1):c.272C>T (p.Thr91Ile)	COPG1 (T91I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709572	NM_016128.4(COPG1):c.276C>T (p.Ile92=)	COPG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2612458	NM_016128.4(COPG1):c.292A>C (p.Ile98Leu)	COPG1 (I98L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654121	NM_016128.4(COPG1):c.366C>T (p.Gly122=)	COPG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3076257	NM_016128.4(COPG1):c.370G>C (p.Ala124Pro)	COPG1 (A124P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493534	NM_016128.4(COPG1):c.401G>T (p.Ser134Ile)	COPG1 (S134I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076259	NM_016128.4(COPG1):c.464T>A (p.Val155Asp)	COPG1 (V155D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688300	NM_016128.4(COPG1):c.492+58A>C	COPG1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3076260	NM_016128.4(COPG1):c.642G>A (p.Met214Ile)	COPG1 (M214I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076261	NM_016128.4(COPG1):c.662A>G (p.His221Arg)	COPG1 (H221R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688301	NM_016128.4(COPG1):c.663T>C (p.His221=)	COPG1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688328	NM_016128.4(COPG1):c.718C>G (p.Leu240Val)	COPG1 (L240V)	Single nucleotide variant (missense variant)	not specified	GBenign
Select item 3268959	NM_016128.4(COPG1):c.806A>G (p.Glu269Gly)	COPG1 (E269G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 789714	NM_016128.4(COPG1):c.861G>A (p.Pro287=)	COPG1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2350229	NM_016128.4(COPG1):c.901G>T (p.Ala301Ser)	COPG1 (A301S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327338	NM_016128.4(COPG1):c.922G>A (p.Val308Ile)	COPG1 (V308I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688302	NM_016128.4(COPG1):c.939+13C>G	COPG1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3076241	NM_016128.4(COPG1):c.1025C>T (p.Thr342Met)	COPG1 (T342M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076242	NM_016128.4(COPG1):c.1225G>T (p.Gly409Cys)	COPG1 (G409C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076243	NM_016128.4(COPG1):c.1244G>A (p.Arg415His)	COPG1 (R415H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076244	NM_016128.4(COPG1):c.1312C>T (p.His438Tyr)	COPG1 (H438Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555813	NM_016128.4(COPG1):c.1420C>G (p.Arg474Gly)	COPG1 (R474G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268958	NM_016128.4(COPG1):c.1421G>A (p.Arg474His)	COPG1 (R474H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076246	NM_016128.4(COPG1):c.1525A>G (p.Ile509Val)	COPG1 (I509V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688267	NM_016128.4(COPG1):c.1545-65A>C	COPG1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2216019	NM_016128.4(COPG1):c.1553T>C (p.Met518Thr)	COPG1 (M518T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076247	NM_016128.4(COPG1):c.1571T>A (p.Val524Glu)	COPG1 (V524E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076248	NM_016128.4(COPG1):c.1580G>A (p.Arg527Gln)	COPG1 (R527Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076249	NM_016128.4(COPG1):c.1592A>G (p.Tyr531Cys)	COPG1 (Y531C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344103	NM_016128.4(COPG1):c.1751C>T (p.Ala584Val)	COPG1 (A584V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337580	NM_016128.4(COPG1):c.1759G>A (p.Ala587Thr)	COPG1 (A587T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 872600	NM_016128.4(COPG1):c.1774+7C>T	COPG1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2688268	NM_016128.4(COPG1):c.1775-45G>A	COPG1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688269	NM_016128.4(COPG1):c.1843+56T>A	COPG1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2532151	NM_016128.4(COPG1):c.1856C>G (p.Ala619Gly)	COPG1 (A619G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406451	NM_016128.4(COPG1):c.1870C>T (p.Arg624Cys)	COPG1 (R624C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076251	NM_016128.4(COPG1):c.1871G>A (p.Arg624His)	COPG1 (R624H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475958	NM_016128.4(COPG1):c.1885C>T (p.Leu629Phe)	COPG1 (L629F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076252	NM_016128.4(COPG1):c.1898C>T (p.Ser633Leu)	COPG1 (S633L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076253	NM_016128.4(COPG1):c.1921G>A (p.Glu641Lys)	COPG1 (E641K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356319	NM_016128.4(COPG1):c.1931C>T (p.Thr644Met)	COPG1 (T644M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067506	NM_016128.4(COPG1):c.1932G>A (p.Thr644=)	COPG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2688277	NR_106884.1(MIR6826):n.10T>C	COPG1, MIR6826	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GBenign
Select item 3076254	NM_016128.4(COPG1):c.2029G>A (p.Val677Ile)	COPG1 (V677I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268960	NM_016128.4(COPG1):c.2074T>A (p.Tyr692Asn)	COPG1 (Y692N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486679	NM_016128.4(COPG1):c.2087G>A (p.Arg696Gln)	COPG1 (R696Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234946	NM_016128.4(COPG1):c.2255T>C (p.Val752Ala)	COPG1 (V752A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270303	NM_016128.4(COPG1):c.2263G>C (p.Asp755His)	COPG1 (D755H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533614	NM_016128.4(COPG1):c.2312A>C (p.Asn771Thr)	COPG1 (N771T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299478	NM_016128.4(COPG1):c.2317G>A (p.Glu773Lys)	COPG1 (E773K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2207507	NM_016128.4(COPG1):c.2355G>T (p.Lys785Asn)	COPG1 (K785N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293857	NM_016128.4(COPG1):c.2402T>C (p.Val801Ala)	COPG1 (V801A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2269001	NM_016128.4(COPG1):c.2434C>G (p.Pro812Ala)	COPG1 (P812A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370151	NM_016128.4(COPG1):c.2459C>T (p.Pro820Leu)	COPG1 (P820L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076256	NM_016128.4(COPG1):c.2489T>C (p.Leu830Pro)	COPG1 (L830P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 872601	NM_016128.4(COPG1):c.2526G>T (p.Val842=)	COPG1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2345924	NM_016128.4(COPG1):c.2527C>T (p.Arg843Cys)	COPG1 (R843C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466330	NM_016128.4(COPG1):c.2584G>A (p.Glu862Lys)	COPG1 (E862K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2654122	NM_016128.4(COPG1):c.2590C>A (p.Leu864Met)	COPG1 (L864M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3025227	NM_016128.4(COPG1):c.2601C>T (p.Asp867=)	COPG1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3268961	NM_016128.4(COPG1):c.2605A>G (p.Ile869Val)	COPG1 (I869V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2424798	NC_000003.11:g.(?_126707437)_(130720194_?)dup	ABTB1, ACAD9 +38 more	Duplication	Deafness-lymphedema-leukemia syndrome +1 more	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
Select item 1452099	NC_000003.11:g.(?_120365818)_(133465047_?)del	ABTB1, ACAD11 +109 more	Deletion	Alkaptonuria	GPathogenic
Select item 1183991	Single allele	ABTB1, ACAD9 +59 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 1183990	Single allele	ACAD11, ACAD9 +61 more	Deletion	Deafness-lymphedema-leukemia syndrome +1 more	GPathogenic
Select item 830616	NC_000003.12:g.(?_129170453)_(129551340_?)dup	CNBP, COPG1 +7 more	Duplication	not provided	GUncertain significance
Select item 562815	GRCh37/hg19 3q21.3-22.1(chr3:128660985-129811200)x1	ALG1L2, CFAP92 +17 more	Copy number loss	not provided	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 86