18025[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155660	GRCh38/hg38 1q32.2-44(chr1:207346642-248930485)x3	ABCB10, ACBD3 +1428 more	Copy number gain	See cases	GPathogenic
Select item 58116	GRCh38/hg38 1q32.2-44(chr1:209646207-248931113)x3	LOC120908923, LOC120947224 +1352 more	Copy number gain	See cases	GPathogenic
Select item 145652	GRCh38/hg38 1q32.2-44(chr1:209963625-248918469)x3	ABCB10, ACBD3 +1326 more	Copy number gain	See cases	GPathogenic
Select item 57302	GRCh38/hg38 1q32.3-44(chr1:214023812-248918469)x3	LOC129932855, LOC129932856 +1168 more	Copy number gain	See cases	GPathogenic
Select item 57010	GRCh38/hg38 1q41-44(chr1:223347693-248918469)x3	TARBP1, TBCE +968 more	Copy number gain	See cases	GPathogenic
Select item 146575	GRCh38/hg38 1q41-44(chr1:223815147-248918469)x3	LINC02765, LINC02768 +955 more	Copy number gain	See cases	GPathogenic
Select item 58133	GRCh38/hg38 1q41-44(chr1:223828500-248891309)x3	LOC440742, LYPD8 +955 more	Copy number gain	See cases	GPathogenic
Select item 58135	GRCh38/hg38 1q41-44(chr1:223887780-248891309)x3	ABCB10, ACBD3 +953 more	Copy number gain	See cases	GPathogenic
Select item 148701	GRCh38/hg38 1q42.11-44(chr1:224022862-248918469)x3	LOC129932825, LOC129932826 +952 more	Copy number gain	See cases	GPathogenic
Select item 58137	GRCh38/hg38 1q42.11-44(chr1:224096488-248918469)x3	LOC129932658, LOC129932659 +950 more	Copy number gain	See cases	GPathogenic
Select item 154381	GRCh38/hg38 1q42.12-44(chr1:225438480-248787200)x3	LOC126806053, LOC126806054 +870 more	Copy number gain	See cases	GPathogenic
Select item 147487	GRCh38/hg38 1q42.13-44(chr1:229022909-248918469)x3	ABCB10, ACTA1 +656 more	Copy number gain	See cases	GPathogenic
Select item 57387	GRCh38/hg38 1q42.13-44(chr1:230106271-243677283)x1	ACTN2, AGT +378 more	Copy number loss	See cases	GPathogenic
Select item 2579289	GRCh38/hg38 1q42.13-44(chr1:230178121-243646135)x1	ACTN2, AGT +369 more	Copy number loss	Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2	GPathogenic
Select item 1707457	Single allele	LOC129388781, LOC129932784 +123 more	Duplication	not specified	GUncertain significance
Select item 2577840	NC_000001.11:g.(233502994_233518999)_(236093155_236105019)del	ARID4B, B3GALNT2 +162 more	Deletion	Immunodeficiency, common variable, 14	GPathogenic
Select item 155546	GRCh38/hg38 1q42.2-42.3(chr1:234147274-235184361)x1	ARID4B, COA6 +98 more	Copy number loss	See cases	GUncertain significance
Select item 672594	NM_001012985.2(COA6):c.-613T>A	COA6, COA6-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GLikely benign
Select item 683484	NM_001012985.2(COA6):c.-509A>C	COA6, COA6-AS1	Single nucleotide variant (non-coding transcript variant)	not provided	GBenign
Select item 510592	NM_001206641.3(COA6):c.-11A>G	COA6, COA6-AS1	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 3024924	NM_001206641.3(COA6):c.39C>A (p.Arg13=)	COA6, COA6-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3058720	NM_001206641.3(COA6):c.45G>A (p.Val15=)	COA6, COA6-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	COA6-related disorder	GLikely benign
Select item 2582873	NM_001206641.3(COA6):c.47G>T (p.Ser16Ile)	COA6, COA6-AS1 (S16I)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 380009	NM_001206641.3(COA6):c.47G>C (p.Ser16Thr)	COA6, COA6-AS1 (S16T)	Single nucleotide variant (non-coding transcript variant +1 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 +2 more	GBenign
Select item 514919	NM_001206641.3(COA6):c.72T>C (p.Ser24=)	COA6, COA6-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 510543	NM_001206641.3(COA6):c.90G>A (p.Glu30=)	COA6, COA6-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GLikely benign
Select item 506753	NM_001206641.3(COA6):c.191C>G (p.Ala64Gly)	COA6 (A64G)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 518137	NM_001206641.3(COA6):c.212+29C>T	COA6	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2297078	NM_001206641.3(COA6):c.212+48C>T	COA6 (P3L)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2306235	NM_001206641.3(COA6):c.212+50G>A	COA6 (G4R)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1908150	NM_001206641.3(COA6):c.212+66C>T	COA6 (S9F)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1934573	NM_001206641.3(COA6):c.212+70G>T	COA6	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 387769	NM_001206641.3(COA6):c.212+76C>A	COA6	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 1722934	NM_001206641.3(COA6):c.212+114G>T	COA6 (R25L)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 388756	NM_001206641.3(COA6):c.212+144C>G	COA6 (P35R)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 514927	NM_001206641.3(COA6):c.212+154A>G	COA6	Single nucleotide variant (synonymous variant +2 more)	not specified +1 more	GLikely benign
Select item 506397	NM_001206641.3(COA6):c.212+162G>A	COA6 (S41N)	Single nucleotide variant (missense variant +2 more)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4 +2 more	GBenign/Likely benign
Select item 1690965	NM_001206641.3(COA6):c.212+163G>A	COA6	Single nucleotide variant (5 prime UTR variant +2 more)	See cases	GLikely pathogenic
Select item 2781308	NM_001206641.3(COA6):c.212+176C>T	COA6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1248350	NM_001206641.3(COA6):c.213-101del	COA6	Deletion (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1215932	NM_001206641.3(COA6):c.213-107_213-101del	COA6	Deletion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1202813	NM_001206641.3(COA6):c.213-102_213-101del	COA6	Deletion (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1234340	NM_001206641.3(COA6):c.213-111T>G	COA6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1190954	NM_001206641.3(COA6):c.213-105T>G	COA6	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 380182	NM_001206641.3(COA6):c.213-4A>G	COA6	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 1562855	NM_001206641.3(COA6):c.222A>G (p.Ala74=)	COA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2362472	NM_001206641.3(COA6):c.231G>C (p.Met77Ile)	COA6 (M47I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2057929	NM_001206641.3(COA6):c.244A>G (p.Met82Val)	COA6 (M52V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 559358	NM_001206641.3(COA6):c.248A>G (p.Lys83Arg)	COA6 (K53R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 144036	NM_001206641.3(COA6):c.267G>C (p.Trp89Cys)	COA6 (W59C +2 more)	Single nucleotide variant (missense variant)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	GPathogenic
Select item 2580902	NM_001206641.3(COA6):c.272C>G (p.Ala91Gly)	COA6 (A15G +2 more)	Single nucleotide variant (missense variant)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	GUncertain significance
Select item 1690932	NM_001206641.3(COA6):c.274del (p.Arg92fs)	COA6 (R16fs +2 more)	Deletion (frameshift variant)	See cases	GLikely pathogenic
Select item 2798865	NM_001206641.3(COA6):c.284A>T (p.Tyr95Phe)	COA6 (Y19F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 204622	NM_001206641.3(COA6):c.286T>C (p.Trp96Arg)	COA6 (W66R +2 more)	Single nucleotide variant (missense variant)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 4	GPathogenic
Select item 3048883	NM_001206641.3(COA6):c.330G>A (p.Lys110=)	COA6	Single nucleotide variant (synonymous variant)	COA6-related disorder	GLikely benign
Select item 2444785	NM_001206641.3(COA6):c.340A>G (p.Ser114Gly)	COA6 (S114G +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 144037	NM_001206641.3(COA6):c.349G>T (p.Glu117Ter)	COA6 (E87* +2 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1389513	NM_001206641.3(COA6):c.354A>C (p.Ser118=)	COA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2074627	NM_001206641.3(COA6):c.366A>G (p.Gln122=)	COA6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2738615	NM_001206641.3(COA6):c.372+7C>G	COA6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292089	NM_001206641.3(COA6):c.372+127A>G	COA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1298152	NM_001206641.3(COA6):c.373-149AC[16]	COA6	Microsatellite (intron variant)	not provided	GBenign
Select item 1267271	NM_001206641.3(COA6):c.373-149AC[18]	COA6	Microsatellite (intron variant)	not provided	GBenign
Select item 1238584	NM_001206641.3(COA6):c.373-149AC[17]	COA6	Microsatellite (intron variant)	not provided	GBenign
Select item 1233686	NM_001206641.3(COA6):c.373-149AC[14]	COA6	Microsatellite (intron variant)	not provided	GBenign
Select item 1230614	NM_001206641.3(COA6):c.373-149AC[15]	COA6	Microsatellite (intron variant)	not provided	GBenign
Select item 1263717	NM_001206641.3(COA6):c.373-84T>C	COA6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 516989	NM_001206641.3(COA6):c.373-19T>A	COA6	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1987791	NM_001206641.3(COA6):c.373-9_373-8dup	COA6	Duplication (intron variant)	not provided	GBenign
Select item 419305	NM_001206641.3(COA6):c.373-8dup	COA6	Duplication (intron variant)	not provided +1 more	GBenign
Select item 2960620	NM_001206641.3(COA6):c.373-12_373-11insG	COA6	Insertion (intron variant)	not provided	GLikely benign
Select item 2883036	NM_001206641.3(COA6):c.373-9_373-8insC	COA6	Insertion (intron variant)	not provided	GLikely benign
Select item 3248035	NC_000001.10:g.(?_234338304)_(237995947_?)dup	ACTN2, ARID4B +21 more	Duplication	not provided	GUncertain significance
Select item 3242280	GRCh37/hg19 1q42.2-42.3(chr1:234117880-236536349)x1	ARID4B, B3GALNT2 +14 more	Copy number loss	not provided	GPathogenic
Select item 3063443	GRCh37/hg19 1q42.2-43(chr1:233813555-240578304)x1	ACTN2, ARID4B +24 more	Copy number loss	not specified	GPathogenic
Select item 2685865	GRCh37/hg19 1q42.13-43(chr1:230231959-238032346)x1	ACTN2, AGT +45 more	Copy number loss	not provided	GPathogenic
Select item 2685840	GRCh37/hg19 1q42.13-44(chr1:229373250-249206595)x3	ABCB10, ACTA1 +137 more	Copy number gain	not provided	GPathogenic
Select item 1810315	GRCh37/hg19 1q42.11-43(chr1:224230307-243181599)x3	ABCB10, ACBD3 +113 more	Copy number gain	not provided	Gnot provided
Select item 1809372	GRCh37/hg19 1q41-44(chr1:223972939-249224684)x3	ABCB10, ACBD3 +185 more	Copy number gain	not provided	GPathogenic
Select item 1809265	GRCh37/hg19 1q42.13-43(chr1:227992928-236659905)x3	ABCB10, ACTA1 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 1809015	GRCh37/hg19 1q42.2-43(chr1:232827966-240750334)x1	ACTN2, ARID4B +30 more	Copy number loss	not provided	GUncertain significance
Select item 1809009	GRCh37/hg19 1q42.2-43(chr1:232895447-238787061)x1	ACTN2, ARID4B +27 more	Copy number loss	not provided	GUncertain significance
Select item 1808740	GRCh37/hg19 1q42.2-43(chr1:232732121-243338216)x1	ACTN2, ARID4B +40 more	Copy number loss	not provided	GPathogenic
Select item 1711168	GRCh37/hg19 1q42.2-44(chr1:233012994-249206918)x1	OR2T12, OR2T2 +109 more	Copy number loss	See cases	GPathogenic
Select item 1708464	GRCh37/hg19 1q31.3-44(chr1:197867914-249224684)x3	COA6, COG2 +381 more	Copy number gain	See cases	GPathogenic
Select item 1701131	GRCh37/hg19 1q42.2-42.3(chr1:233086457-234745240)x1	COA6, IRF2BP2 +6 more	Copy number loss	not provided	GUncertain significance
Select item 1527626	GRCh37/hg19 1q42.2-43(chr1:232226609-241010904)	ACTN2, ARID4B +32 more	Copy number loss	not specified	GPathogenic
Select item 1340553	GRCh37/hg19 1q42.2(chr1:234056242-234567468)x3	COA6, SLC35F3 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1180519	GRCh37/hg19 1q42.2-43(chr1:231407943-237289859)x1	SPRTN, TARBP1 +34 more	Copy number loss	not provided	GPathogenic
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 929379	GRCh37/hg19 1q32.2-44(chr1:210152794-249218992)x3	CHML, CHRM3 +250 more	Copy number gain	See cases	GPathogenic
Select item 816482	GRCh37/hg19 1q32.1-44(chr1:204045948-249218992)x3	C1orf35, C1orf74 +320 more	Copy number gain	See cases	GPathogenic
Select item 814181	GRCh37/hg19 1q42.2-43(chr1:233843930-237971511)x1	SLC35F3, TARBP1 +21 more	Copy number loss	not provided	GPathogenic
Select item 814175	GRCh37/hg19 1q42.13-43(chr1:228832737-240993877)x3	ERO1B, EXOC8 +59 more	Copy number gain	not provided	GPathogenic
Select item 814168	GRCh37/hg19 1q41-42.2(chr1:223653722-234591807)x1	FBXO28, ACBD3 +83 more	Copy number loss	not provided	GPathogenic
Select item 814163	GRCh37/hg19 1q41-43(chr1:219916966-239004378)x3	CCDC185, NTPCR +127 more	Copy number gain	not provided	GPathogenic
Select item 688521	GRCh37/hg19 1q42.2(chr1:234479682-234518218)x1	COA6	Copy number loss	not provided	GUncertain significance
Select item 686811	GRCh37/hg19 1q42.2(chr1:234479682-234518218)x1	COA6	Copy number loss	not provided	GUncertain significance
Select item 686243	GRCh37/hg19 1q42.2(chr1:234491689-234518218)x1	COA6	Copy number loss	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic

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