COPB1[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	ADM, ADM-DT +208 more	Copy number loss	See cases	GPathogenic
Select item 3076227	NM_001144061.2(COPB1):c.2722A>C (p.Asn908His)	COPB1 (N908H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383760	NM_001144061.2(COPB1):c.2681A>G (p.Asn894Ser)	COPB1 (N894S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407572	NM_001144061.2(COPB1):c.2465T>C (p.Ile822Thr)	COPB1 (I822T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387174	NM_001144061.2(COPB1):c.2400T>G (p.Phe800Leu)	COPB1 (F800L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2582497	NM_001144061.2(COPB1):c.2365G>A (p.Val789Ile)	COPB1 (V789I)	Single nucleotide variant (missense variant)	Baralle-Macken syndrome	GUncertain significance
Select item 2288436	NM_001144061.2(COPB1):c.2338C>T (p.His780Tyr)	COPB1 (H780Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076226	NM_001144061.2(COPB1):c.2324T>C (p.Leu775Ser)	COPB1 (L775S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641619	NM_001144061.2(COPB1):c.2316G>A (p.Pro772=)	COPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1694632	NM_001144061.2(COPB1):c.2265T>C (p.Asn755=)	COPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1678525	NM_001144061.2(COPB1):c.2102A>G (p.Gln701Arg)	COPB1 (Q701R)	Single nucleotide variant (missense variant)	Short stature +3 more	GPathogenic
Select item 2335236	NM_001144061.2(COPB1):c.2098A>T (p.Thr700Ser)	COPB1 (T700S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2251052	NM_001144061.2(COPB1):c.1944A>C (p.Glu648Asp)	COPB1 (E648D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239595	NM_001144061.2(COPB1):c.1912T>A (p.Ser638Thr)	COPB1 (S638T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358434	NM_001144061.2(COPB1):c.1895A>G (p.Asn632Ser)	COPB1 (N632S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641620	NM_001144061.2(COPB1):c.1821T>C (p.Asp607=)	COPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2351888	NM_001144061.2(COPB1):c.1699C>T (p.Arg567Cys)	COPB1 (R567C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509416	NM_001144061.2(COPB1):c.1678A>C (p.Thr560Pro)	COPB1 (T560P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076222	NM_001144061.2(COPB1):c.1667C>G (p.Ser556Cys)	COPB1 (S556C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533613	NM_001144061.2(COPB1):c.1654T>G (p.Phe552Val)	COPB1 (F552V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 996037	NM_001144061.2(COPB1):c.1651T>G (p.Phe551Val)	COPB1 (F551V)	Single nucleotide variant (missense variant)	Baralle-Macken syndrome	GPathogenic
Select item 2595441	NM_001144061.2(COPB1):c.1636C>T (p.Leu546Phe)	COPB1 (L546F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480518	NM_001144061.2(COPB1):c.1618C>A (p.Pro540Thr)	COPB1 (P540T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305392	NM_001144061.2(COPB1):c.1617A>T (p.Arg539Ser)	COPB1 (R539S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076221	NM_001144061.2(COPB1):c.1436T>A (p.Ile479Asn)	COPB1 (I479N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672460	NM_001144061.2(COPB1):c.1350A>G (p.Lys450=)	COPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2471835	NM_001144061.2(COPB1):c.1349A>T (p.Lys450Ile)	COPB1 (K450I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076220	NM_001144061.2(COPB1):c.1304G>C (p.Arg435Thr)	COPB1 (R435T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367703	NM_001144061.2(COPB1):c.1289G>A (p.Arg430His)	COPB1 (R430H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076219	NM_001144061.2(COPB1):c.1288C>T (p.Arg430Cys)	COPB1 (R430C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382569	NM_001144061.2(COPB1):c.1230T>G (p.Ser410Arg)	COPB1 (S410R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2330684	NM_001144061.2(COPB1):c.1145T>C (p.Leu382Pro)	COPB1 (L382P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469087	NM_001144061.2(COPB1):c.1135T>C (p.Tyr379His)	COPB1 (Y379H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076218	NM_001144061.2(COPB1):c.1010G>A (p.Arg337Gln)	COPB1 (R337Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228350	NM_001144061.2(COPB1):c.991A>G (p.Thr331Ala)	COPB1 (T331A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641621	NM_001144061.2(COPB1):c.958-4T>G	COPB1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 996016	NM_001144061.2(COPB1):c.957+1G>T	COPB1	Single nucleotide variant (splice donor variant)	Baralle-Macken syndrome +3 more	GPathogenic/Likely pathogenic
Select item 2641622	NM_001144061.2(COPB1):c.904T>C (p.Leu302=)	COPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2384449	NM_001144061.2(COPB1):c.877A>G (p.Ser293Gly)	COPB1 (S293G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252093	NM_001144061.2(COPB1):c.824C>A (p.Pro275Gln)	COPB1 (P275Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641623	NM_001144061.2(COPB1):c.813C>G (p.Leu271=)	COPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3076230	NM_001144061.2(COPB1):c.805G>A (p.Val269Met)	COPB1 (V269M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291636	NM_001144061.2(COPB1):c.775G>T (p.Ala259Ser)	COPB1 (A259S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469990	NM_001144061.2(COPB1):c.739C>T (p.Arg247Cys)	COPB1 (R247C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249253	NM_001144061.2(COPB1):c.511C>T (p.Pro171Ser)	COPB1 (P171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076229	NM_001144061.2(COPB1):c.440G>A (p.Arg147Gln)	COPB1 (R147Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076228	NM_001144061.2(COPB1):c.412C>T (p.Pro138Ser)	COPB1 (P138S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076225	NM_001144061.2(COPB1):c.196G>T (p.Val66Leu)	COPB1 (V66L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076224	NM_001144061.2(COPB1):c.191G>A (p.Arg64His)	COPB1 (R64H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076223	NM_001144061.2(COPB1):c.190C>T (p.Arg64Cys)	COPB1 (R64C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2776139	NM_001144061.2(COPB1):c.92-21_92-20dup	COPB1	Duplication (intron variant)	not provided	GBenign
Select item 3025546	NM_001144061.2(COPB1):c.45A>G (p.Pro15=)	COPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2456901	NM_001144061.2(COPB1):c.19G>A (p.Val7Ile)	COPB1 (V7I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641624	NM_001144061.2(COPB1):c.9G>A (p.Ala3=)	COPB1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2441767	NM_001144061.2(COPB1):c.-57-2A>G	COPB1	Single nucleotide variant (splice acceptor variant)	Baralle-Macken syndrome	GConflicting classifications of pathogenicity
Select item 1707435	GRCh37/hg19 11p15.5-14.2(chr11:230615-26881146)x3	ART1, CD81 +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	ABCC8, ANO3 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	RASSF10, RCN1 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	CCKBR, OR56A4 +343 more	Copy number gain	not provided	GPathogenic
Select item 689164	GRCh37/hg19 11p15.2(chr11:14513629-14816556)x3	COPB1, PDE3B +1 more	Copy number gain	not provided	GUncertain significance
Select item 686408	GRCh37/hg19 11p15.2(chr11:13464883-14872063)x4	SPON1, PTH +6 more	Copy number gain	not provided	GUncertain significance
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	RASSF10, RASSF7 +258 more	Copy number gain	not provided	GPathogenic
Select item 442407	GRCh37/hg19 11p15.2(chr11:14460052-15556068)x3	CALCA, CALCB +5 more	Copy number gain	See cases	GUncertain significance
Select item 441985	GRCh37/hg19 11p15.5-13(chr11:230615-31995219)x3	ABCC8, ADM +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	ABCC8, ADM +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	OR2AG2, OR2D2 +364 more	Copy number gain	See cases	GPathogenic
Select item 369982	GRCh37/hg19 11p15.2(chr11:14504463-14909461)x1	COPB1, CYP2R1 +2 more	Copy number loss	Thyroid hemiagenesis	GLikely pathogenic

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Items: 71