COPB1[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 80

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CRACR2B, IGF2-AS +917 more	Copy number gain	See cases	GPathogenic
Select item 147607	GRCh38/hg38 11p15.4-15.2(chr11:9989516-16825806)x1	DKK3, EIF4G2 +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 3268946	NM_001144061.2(COPB1):c.2582A>G (p.Asp861Gly)	COPB1 (D861G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268947	NM_001144061.2(COPB1):c.2573A>G (p.Asn858Ser)	COPB1 (N858S)	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 3268939	NM_001144061.2(COPB1):c.2194G>A (p.Val732Ile)	COPB1 (V732I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3268945	NM_001144061.2(COPB1):c.1948G>A (p.Glu650Lys)	COPB1 (E650K)	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 3268938	NM_001144061.2(COPB1):c.1312A>G (p.Ile438Val)	COPB1 (I438V)	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 3268940	NM_001144061.2(COPB1):c.1235A>G (p.Asn412Ser)	COPB1 (N412S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 3268942	NM_001144061.2(COPB1):c.1090G>A (p.Val364Met)	COPB1 (V364M)	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 3268943	NM_001144061.2(COPB1):c.864A>T (p.Leu288Phe)	COPB1 (L288F)	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 3268944	NM_001144061.2(COPB1):c.422G>C (p.Arg141Pro)	COPB1 (R141P)	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	DNHD1, DRD4 +308 more	Copy number gain	See cases	GPathogenic
Select item 997825	Single allele	AQP11, CABP4 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815411	GRCh37/hg19 11p15.2-14.1(chr11:13970757-27565888)x3	COPB1, CSRP3 +67 more	Copy number gain	not provided	GPathogenic
Select item 815410	GRCh37/hg19 11p15.3-13(chr11:11053978-34732891)x3	CCDC73, CD59 +116 more	Copy number gain	not provided	GPathogenic
Select item 815395	GRCh37/hg19 11p15.5-13(chr11:235934-33826995)x3	ARL14EP, ART1 +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	PTH, RRAS2 +6 more	Copy number gain	not provided	GUncertain significance
Select item 563883	GRCh37/hg19 11p15.5-15.1(chr11:230615-17099213)x3	IFITM3, IFITM5 +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	HBG1, HBG2 +327 more	Copy number gain	See cases	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	GAL3ST3, GALNT18 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	MRGPRX3, MRGPRX4 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441787	GRCh37/hg19 11p15.5-14.3(chr11:230615-25584362)x3	AMPD3, ANO5 +305 more	Copy number gain	See cases	GPathogenic
Select item 441715	GRCh37/hg19 11p15.5-12(chr11:230615-37698540)x3	BDNF-AS, BMAL1 +364 more	Copy number gain	See cases	GPathogenic
Select item 369982	GRCh37/hg19 11p15.2(chr11:14504463-14909461)x1	CYP2R1, PDE3B +2 more	Copy number loss	Thyroid hemiagenesis	GLikely pathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 80