COPB2[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	LOC129937446, LOC129937447 +1343 more	Copy number gain	See cases	GPathogenic
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	LOC129937268, LOC129937269 +2645 more	Copy number gain	See cases	GPathogenic
Select item 153723	GRCh38/hg38 3q21.3-23(chr3:126106779-140918089)x3	LOC126806816, LOC126806817 +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	LOC129937649, LOC129937650 +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 2692811	NM_004766.3(COPB2):c.2718T>C (p.Asp906=)	COPB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2056775	NM_004766.3(COPB2):c.2713G>A (p.Asp905Asn)	COPB2 (D876N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2502523	NM_004766.3(COPB2):c.2689A>C (p.Ile897Leu)	COPB2 (I868L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1255401	NM_004766.3(COPB2):c.2626-20C>A	COPB2	Single nucleotide variant (intron variant)	Microcephaly 19, primary, autosomal recessive +1 more	GBenign
Select item 2579391	NM_004766.3(COPB2):c.2617_2621dup (p.Ser876fs)	COPB2 (S847fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2240428	NM_004766.3(COPB2):c.2613C>A (p.Asn871Lys)	COPB2 (N842K +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2283170	NM_004766.3(COPB2):c.2608G>A (p.Ala870Thr)	COPB2 (A841T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2053188	NM_004766.3(COPB2):c.2598C>T (p.Ala866=)	COPB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2055211	NM_004766.3(COPB2):c.2591T>C (p.Ile864Thr)	COPB2 (I835T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1622752	NM_004766.3(COPB2):c.2586G>A (p.Pro862=)	COPB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1987406	NM_004766.3(COPB2):c.2554-20_2554-17dup	COPB2	Duplication (intron variant)	not provided	GBenign
Select item 2031082	NM_004766.3(COPB2):c.2553+6T>G	COPB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1496339	NM_004766.3(COPB2):c.2543C>T (p.Thr848Ile)	COPB2 (T848I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2954737	NM_004766.3(COPB2):c.2484+13G>A	COPB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1363289	NM_004766.3(COPB2):c.2484G>A (p.Thr828=)	COPB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1519322	NM_004766.3(COPB2):c.2483C>T (p.Thr828Met)	COPB2 (T828M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2868130	NM_004766.3(COPB2):c.2465A>G (p.Lys822Arg)	COPB2 (K822R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2617597	NM_004766.3(COPB2):c.2449G>C (p.Asp817His)	COPB2 (D788H +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2048309	NM_004766.3(COPB2):c.2445T>G (p.His815Gln)	COPB2 (H815Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2268740	NM_004766.3(COPB2):c.2350G>A (p.Ala784Thr)	COPB2 (A755T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1510925	NM_004766.3(COPB2):c.2276G>A (p.Arg759Gln)	COPB2 (R759Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1911067	NM_004766.3(COPB2):c.2248C>T (p.Arg750Trp)	COPB2 (R750W +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2662339	NM_004766.3(COPB2):c.2189T>A (p.Met730Lys)	COPB2 (M701K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3076235	NM_004766.3(COPB2):c.2188A>G (p.Met730Val)	COPB2 (M730V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2090874	NM_004766.3(COPB2):c.2023_2024delinsAC (p.Glu675Thr)	COPB2 (E675T +1 more)	Indel (missense variant +1 more)	not provided	GUncertain significance
Select item 2218060	NM_004766.3(COPB2):c.1997C>T (p.Ser666Leu)	COPB2 (S666L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3076234	NM_004766.3(COPB2):c.1967T>C (p.Ile656Thr)	COPB2 (I627T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2270301	NM_004766.3(COPB2):c.1945C>T (p.Leu649Phe)	COPB2 (L649F +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2898832	NM_004766.3(COPB2):c.1930C>T (p.Arg644Cys)	COPB2 (R615C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2761192	NM_004766.3(COPB2):c.1916C>T (p.Thr639Ile)	COPB2 (T610I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2354532	NM_004766.3(COPB2):c.1907C>G (p.Thr636Arg)	COPB2 (T607R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1327120	NM_004766.3(COPB2):c.1906dup (p.Thr636fs)	COPB2 (T636fs)	Duplication (frameshift variant +1 more)	COPB2-related disorder	GUncertain significance
Select item 2988988	NM_004766.3(COPB2):c.1885-15T>A	COPB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1910972	NM_004766.3(COPB2):c.1884+20T>A	COPB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2038924	NM_004766.3(COPB2):c.1845A>G (p.Lys615=)	COPB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1669465	NM_004766.3(COPB2):c.1800G>A (p.Arg600=)	COPB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1553493	NM_004766.3(COPB2):c.1702C>T (p.Pro568Ser)	COPB2 (P568S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2382997	NM_004766.3(COPB2):c.1683G>A (p.Met561Ile)	COPB2 (M561I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1934473	NM_004766.3(COPB2):c.1568T>C (p.Ile523Thr)	COPB2 (I523T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 2917760	NM_004766.3(COPB2):c.1545+3A>G	COPB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1544168	NM_004766.3(COPB2):c.1538C>G (p.Ala513Gly)	COPB2 (A513G)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1945764	NM_004766.3(COPB2):c.1517C>G (p.Thr506Ser)	COPB2 (T477S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2065999	NM_004766.3(COPB2):c.1491T>C (p.Ala497=)	COPB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1519034	NM_004766.3(COPB2):c.1431C>G (p.Val477=)	COPB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1534653	NM_004766.3(COPB2):c.1401+12C>T	COPB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3076233	NM_004766.3(COPB2):c.1367A>G (p.Glu456Gly)	COPB2 (E427G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2574248	NM_004766.3(COPB2):c.1357G>A (p.Asp453Asn)	COPB2 (D424N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2337315	NM_004766.3(COPB2):c.1306G>A (p.Gly436Ser)	COPB2 (G436S +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1644618	NM_004766.3(COPB2):c.1302C>T (p.Tyr434=)	COPB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2802922	NM_004766.3(COPB2):c.1295-6del	COPB2	Deletion (intron variant)	not provided	GLikely benign
Select item 1904478	NM_004766.3(COPB2):c.1294+13T>G	COPB2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2034273	NM_004766.3(COPB2):c.1282T>A (p.Phe428Ile)	COPB2 (F399I +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2431662	NM_004766.3(COPB2):c.1266dup (p.Ser423fs)	COPB2 (S423fs)	Duplication (frameshift variant +1 more)	Osteoporosis, childhood- or juvenile-onset, with developmental delay	GLikely pathogenic
Select item 1327119	NM_004766.3(COPB2):c.1237_1238del (p.Lys413fs)	COPB2 (K413fs)	Deletion (frameshift variant +1 more)	COPB2-related disorder	GUncertain significance
Select item 2288863	NM_004766.3(COPB2):c.1234G>A (p.Val412Ile)	COPB2 (V383I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1686975	NM_004766.3(COPB2):c.1206-2A>G	COPB2	Single nucleotide variant (splice acceptor variant)	Osteoporosis, childhood- or juvenile-onset, with developmental delay	GPathogenic
Select item 2857397	NM_004766.3(COPB2):c.1205+10G>A	COPB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1671230	NM_004766.3(COPB2):c.1194C>T (p.His398=)	COPB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2179876	NM_004766.3(COPB2):c.1107G>A (p.Val369=)	COPB2	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1638794	NM_004766.3(COPB2):c.1095-18G>T	COPB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1255402	NM_004766.3(COPB2):c.1095-23T>C	COPB2	Single nucleotide variant (intron variant)	Microcephaly 19, primary, autosomal recessive	GBenign
Select item 2795646	NM_004766.3(COPB2):c.1094+10C>T	COPB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3030583	NM_004766.3(COPB2):c.1066C>T (p.Gln356Ter)	COPB2 (Q327* +1 more)	Single nucleotide variant (nonsense +1 more)	COPB2-related disorder	GUncertain significance
Select item 3076232	NM_004766.3(COPB2):c.1050T>A (p.Ser350Arg)	COPB2 (S350R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2991898	NM_004766.3(COPB2):c.1021T>C (p.Leu341=)	COPB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1466422	NM_004766.3(COPB2):c.988A>T (p.Met330Leu)	COPB2 (M330L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1441317	NM_004766.3(COPB2):c.928G>A (p.Ala310Thr)	COPB2 (A310T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2193920	NM_004766.3(COPB2):c.869A>C (p.Tyr290Ser)	COPB2 (Y290S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2050844	NM_004766.3(COPB2):c.854A>G (p.Asn285Ser)	COPB2 (N256S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2579384	NM_004766.3(COPB2):c.778A>G (p.Thr260Ala)	COPB2 (T231A +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 446713	NM_004766.3(COPB2):c.760C>T (p.Arg254Cys)	COPB2 (R254C)	Single nucleotide variant (missense variant +1 more)	Microcephaly 19, primary, autosomal recessive	GPathogenic
Select item 2573025	NM_004766.3(COPB2):c.751+4A>G	COPB2	Single nucleotide variant (intron variant)	Osteoporosis, childhood- or juvenile-onset, with developmental delay	GUncertain significance
Select item 1652263	NM_004766.3(COPB2):c.652-15A>G	COPB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1954026	NM_004766.3(COPB2):c.600A>G (p.Pro200=)	COPB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3076236	NM_004766.3(COPB2):c.583A>G (p.Ser195Gly)	COPB2 (S166G +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2893145	NM_004766.3(COPB2):c.581A>G (p.Tyr194Cys)	COPB2 (Y165C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 2539503	NM_004766.3(COPB2):c.521C>G (p.Ser174Cys)	COPB2 (S174C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1649854	NM_004766.3(COPB2):c.505-6C>T	COPB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1969437	NM_004766.3(COPB2):c.355+20G>C	COPB2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1585446	NM_004766.3(COPB2):c.342T>C (p.Ile114=)	COPB2	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 2071492	NM_004766.3(COPB2):c.319G>A (p.Val107Ile)	COPB2 (V78I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2835446	NM_004766.3(COPB2):c.253A>G (p.Asn85Asp)	COPB2 (N56D +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 1686976	NM_004766.3(COPB2):c.247dup (p.Val83fs)	COPB2 (V83fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2049493	NM_004766.3(COPB2):c.247G>A (p.Val83Met)	COPB2 (V83M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3050038	NM_004766.3(COPB2):c.229-10_229-9del	COPB2	Deletion (intron variant)	COPB2-related disorder	GLikely benign
Select item 1998795	NM_004766.3(COPB2):c.228+4A>G	COPB2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2882597	NM_004766.3(COPB2):c.228G>A (p.Ala76=)	COPB2	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1224936	NM_004766.3(COPB2):c.141+20G>T	COPB2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign

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