CORO2A[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 160862	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC124210612, LOC124210613 +3786 more	Copy number gain	See cases	GPathogenic
Select item 150340	GRCh38/hg38 9p11.2-q34.3(chr9:193412-138159073)x3	LOC121331326, LOC121331327 +3785 more	Copy number gain	See cases	GPathogenic
Select item 150050	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138159073)x3	LOC126860737, LOC126860738 +3786 more	Copy number gain	See cases	GPathogenic
Select item 149828	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138124524)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 59875	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138114463)x3	LOC110121197, LOC110121234 +3786 more	Copy number gain	See cases	GPathogenic
Select item 33205	GRCh38/hg38 9p24.3-q34.3(chr9:193412-138179445)x3	LOC121331342, LOC121331343 +3786 more	Copy number gain	See cases	GPathogenic
Select item 153518	GRCh38/hg38 9p24.3-q34.3(chr9:203861-138125937)x3	LOC113839542, LOC113839543 +3786 more	Copy number gain	See cases	GPathogenic
Select item 155409	GRCh38/hg38 9p24.3-q34.3(chr9:203862-138125937)x3	ABCA1, ABCA2 +3786 more	Copy number gain	See cases	GPathogenic
Select item 144309	GRCh38/hg38 9p24.3-q34.3(chr9:204193-138179445)	LOC130002189, LOC130002190 +3786 more	Copy number gain	See cases	GPathogenic
Select item 147624	GRCh38/hg38 9q21.11-31.2(chr9:68420430-106579493)x3	ABCA1, ABHD17B +1072 more	Copy number gain	See cases	GPathogenic
Select item 151006	GRCh38/hg38 9q21.12-31.3(chr9:69627642-111454304)x3	ABCA1, ABHD17B +1188 more	Copy number gain	See cases	GPathogenic
Select item 59881	GRCh38/hg38 9q22.1-32(chr9:88522292-113687796)x3	LOC130002218, LOC130002219 +994 more	Copy number gain	See cases	GPathogenic
Select item 59902	GRCh38/hg38 9q22.31-22.33(chr9:92561720-98122580)x3	LOC132089736, LOC132089737 +313 more	Copy number gain	See cases	GPathogenic
Select item 145977	GRCh38/hg38 9q22.32-22.33(chr9:94713892-98121186)x1	ANP32B, AOPEP +197 more	Copy number loss	See cases	GPathogenic
Select item 144971	GRCh38/hg38 9q22.32-31.3(chr9:95061030-108695569)x1	LOC130002205, LOC130002206 +417 more	Copy number loss	See cases	GPathogenic
Select item 2351280	NM_052820.4(CORO2A):c.1556G>A (p.Arg519Gln)	CORO2A (R519Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370380	NM_052820.4(CORO2A):c.1526A>G (p.Lys509Arg)	CORO2A (K509R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269027	NM_052820.4(CORO2A):c.1440G>C (p.Glu480Asp)	CORO2A (E480D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205127	NM_052820.4(CORO2A):c.1411G>A (p.Val471Ile)	CORO2A (V471I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2296971	NM_052820.4(CORO2A):c.1386A>C (p.Lys462Asn)	CORO2A (K462N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076385	NM_052820.4(CORO2A):c.1273C>T (p.Arg425Trp)	CORO2A (R425W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391299	NM_052820.4(CORO2A):c.1180C>G (p.Leu394Val)	CORO2A (L394V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456212	NM_052820.4(CORO2A):c.1105T>C (p.Tyr369His)	CORO2A (Y369H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396288	NM_052820.4(CORO2A):c.1016G>A (p.Arg339His)	CORO2A (R339H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411078	NM_052820.4(CORO2A):c.941G>A (p.Arg314His)	CORO2A (R314H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2410890	NM_052820.4(CORO2A):c.940C>T (p.Arg314Cys)	CORO2A (R314C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551901	NM_052820.4(CORO2A):c.914C>G (p.Pro305Arg)	CORO2A (P305R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076394	NM_052820.4(CORO2A):c.909C>G (p.Asp303Glu)	CORO2A (D303E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269029	NM_052820.4(CORO2A):c.904G>A (p.Ala302Thr)	CORO2A (A302T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3269028	NM_052820.4(CORO2A):c.887G>A (p.Arg296His)	CORO2A (R296H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323288	NM_052820.4(CORO2A):c.842A>C (p.Asp281Ala)	CORO2A (D281A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569691	NM_052820.4(CORO2A):c.838G>A (p.Ala280Thr)	CORO2A (A280T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269030	NM_052820.4(CORO2A):c.757T>C (p.Trp253Arg)	CORO2A (W253R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076393	NM_052820.4(CORO2A):c.742C>T (p.Arg248Trp)	CORO2A (R248W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2237724	NM_052820.4(CORO2A):c.686T>C (p.Leu229Pro)	CORO2A (L229P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539240	NM_052820.4(CORO2A):c.629G>A (p.Arg210Gln)	CORO2A (R210Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076391	NM_052820.4(CORO2A):c.616G>A (p.Val206Ile)	CORO2A (V206I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2405081	NM_052820.4(CORO2A):c.613C>T (p.Arg205Trp)	CORO2A (R205W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361181	NM_052820.4(CORO2A):c.599A>G (p.Lys200Arg)	CORO2A (K200R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2259518	NM_052820.4(CORO2A):c.598A>G (p.Lys200Glu)	CORO2A (K200E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218693	NM_052820.4(CORO2A):c.577A>G (p.Ser193Gly)	CORO2A (S193G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076390	NM_052820.4(CORO2A):c.461A>G (p.Asp154Gly)	CORO2A (D154G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076389	NM_052820.4(CORO2A):c.433G>A (p.Ala145Thr)	CORO2A (A145T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351651	NM_052820.4(CORO2A):c.430G>A (p.Ala144Thr)	CORO2A (A144T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1801799	NM_052820.4(CORO2A):c.398G>A (p.Arg133His)	CORO2A (R133H)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 2343693	NM_052820.4(CORO2A):c.394G>A (p.Ala132Thr)	CORO2A (A132T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589748	NM_052820.4(CORO2A):c.365C>T (p.Thr122Met)	CORO2A (T122M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076387	NM_052820.4(CORO2A):c.238G>A (p.Gly80Arg)	CORO2A (G80R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076386	NM_052820.4(CORO2A):c.184G>A (p.Val62Ile)	CORO2A (V62I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2659344	NM_052820.4(CORO2A):c.135C>T (p.Pro45=)	CORO2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2541046	NM_052820.4(CORO2A):c.120C>G (p.Phe40Leu)	CORO2A (F40L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076395	NM_052820.4(CORO2A):c.97C>T (p.Arg33Cys)	CORO2A (R33C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341462	NM_052820.4(CORO2A):c.85G>A (p.Val29Met)	CORO2A (V29M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269026	NM_052820.4(CORO2A):c.79G>A (p.Asp27Asn)	CORO2A (D27N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076392	NM_052820.4(CORO2A):c.64A>C (p.Lys22Gln)	CORO2A (K22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2403144	NM_052820.4(CORO2A):c.64A>G (p.Lys22Glu)	CORO2A (K22E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076388	NM_052820.4(CORO2A):c.37C>T (p.Arg13Cys)	CORO2A (R13C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2262707	NM_052820.4(CORO2A):c.8G>T (p.Trp3Leu)	CORO2A (W3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063071	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020389)x3	DMAC1, DMRT1 +769 more	Copy number gain	not specified	GPathogenic
Select item 2671591	Single allele	CARD19, MIR24-1 +106 more	Deletion	not provided	GPathogenic
Select item 2425182	NC_000009.11:g.(?_100190748)_(103062956_?)dup	ALG2, ANKS6 +22 more	Duplication	Congenital myasthenic syndrome 14 +2 more	GUncertain significance
Select item 1711101	GRCh37/hg19 9p24.3-q34.11(chr9:203861-131603223)x3	ADAMTSL1, CEP78 +596 more	Copy number gain	See cases	GPathogenic
Select item 1703688	GRCh37/hg19 9p22.1-q33.1(chr9:19356861-119513311)	ATOSB, ATP6V1G1 +417 more	Copy number loss	Distal tetrasomy 15q	GUncertain significance
Select item 1527521	GRCh37/hg19 9q21.11-33.2(chr9:71349994-122603410)	ABCA1, ABHD17B +261 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527491	GRCh37/hg19 9p24.3-q34.3(chr9:353349-141020389)	ANKRD18A, ANKRD18B +768 more	Copy number gain	not specified	GPathogenic
Select item 1459792	NC_000009.11:g.(?_100190748)_(103062956_?)del	SEC61B, STX17 +22 more	Deletion	Nephronophthisis	GPathogenic
Select item 1341973	GRCh37/hg19 9q22.2-31.1(chr9:93864974-106661581)x1	ALDOB, ALG2 +87 more	Copy number loss	Gorlin syndrome	GPathogenic
Select item 1340396	GRCh37/hg19 9q22.33(chr9:100827089-101034447)x3	CORO2A, NANS +2 more	Copy number gain	not provided	GUncertain significance
Select item 997816	Single allele	PRXL2C, TBC1D2 +55 more	Deletion	Intellectual disability	GPathogenic
Select item 929316	GRCh37/hg19 9q22.31-31.2(chr9:96126075-108535272)x1	TSTD2, XPA +84 more	Copy number loss	See cases	GPathogenic
Select item 832760	NC_000009.12:g.(?_97428446)_(98796511_?)dup	ANKS6, ANP32B +13 more	Duplication	Epileptic encephalopathy	GUncertain significance
Select item 815272	GRCh37/hg19 9q22.33(chr9:100953443-102003384)x3	ALG2, ANKS6 +7 more	Copy number gain	not provided	GUncertain significance
Select item 694460	NC_000009.11:g.12246100_101559378inv	ANKS6, ANP32B +326 more	Inversion	Abnormal chromosome morphology +1 more	GLikely pathogenic
Select item 688906	GRCh37/hg19 9q22.33(chr9:100930948-101095886)x3	CORO2A, GABBR2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 688493	GRCh37/hg19 9q22.33(chr9:100930948-101095886)x3	CORO2A, GABBR2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 687100	GRCh37/hg19 9q21.11-34.3(chr9:71416475-141020389)x3	AMBP, ANAPC2 +552 more	Copy number gain	not provided	GPathogenic
Select item 686252	GRCh37/hg19 9q22.33(chr9:100936047-101094912)x3	CORO2A, GABBR2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685192	GRCh37/hg19 9p24.3-q34.3(chr9:203861-141020388)x3	MSMP, OR13D1 +769 more	Copy number gain	not provided	GPathogenic
Select item 523294	GRCh37/hg19 9q21.11-34.3(chr9:71069743-140999928)	ANGPTL2, ANKS6 +555 more	Copy number gain	Seizure +2 more	GLikely pathogenic
Select item 443986	GRCh37/hg19 9p24.3-q34.3(chr9:203862-141020389)	ODF2, OGN +769 more	Copy number gain	See cases	GPathogenic
Select item 442793	GRCh37/hg19 9q22.32-31.1(chr9:97553176-102919383)x3	ALG2, ANKS6 +40 more	Copy number gain	See cases	GLikely pathogenic
Select item 442750	GRCh37/hg19 9q22.33(chr9:100625192-102129138)x1	ALG2, ANKS6 +12 more	Copy number loss	See cases	GPathogenic
Select item 395707	GRCh37/hg19 9p24.3-q34.3(chr9:62525-141006407)	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 84