COA5[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59145	GRCh38/hg38 2p11.2-q11.2(chr2:91443218-102334856)x3	ACTR1B, ADRA2B +331 more	Copy number gain	See cases	GPathogenic
Select item 152537	GRCh38/hg38 2q11.1-13(chr2:94678532-110602409)x3	ACTR1B, ADRA2B +550 more	Copy number gain	See cases	GPathogenic
Select item 59146	GRCh38/hg38 2q11.1-12.1(chr2:94817406-103252396)x3	LOC129934355, LOC129934356 +348 more	Copy number gain	See cases	GPathogenic
Select item 148950	GRCh38/hg38 2q11.1-11.2(chr2:95337458-99072953)x3	ACTR1B, ADRA2B +207 more	Copy number gain	See cases	GUncertain significance
Select item 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
Select item 150339	GRCh38/hg38 2q11.2(chr2:98411773-101636907)x1	AFF3, C2orf15 +114 more	Copy number loss	See cases	GLikely pathogenic
Select item 281746	NM_001008215.3(COA5):c.*3C>G	COA5	Single nucleotide variant (3 prime UTR variant)	not provided	GConflicting classifications of pathogenicity
Select item 2377360	NM_001008215.3(COA5):c.197C>T (p.Ala66Val)	COA5 (A66V)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 670019	NM_001008215.3(COA5):c.184-295G>A	COA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1316258	NM_001008215.3(COA5):c.183+160G>A	COA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2758971	NM_001008215.3(COA5):c.157G>A (p.Ala53Thr)	COA5 (A53T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 31087	NM_001008215.3(COA5):c.157G>C (p.Ala53Pro)	COA5 (A53P)	Single nucleotide variant (missense variant)	Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 3	GPathogenic
Select item 2218649	NM_001008215.3(COA5):c.116G>A (p.Arg39Gln)	COA5 (R39Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3268410	NM_001008215.3(COA5):c.113C>T (p.Pro38Leu)	COA5 (P38L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2022455	NM_001008215.3(COA5):c.100-3T>C	COA5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 673470	NM_001008215.3(COA5):c.100-53A>G	COA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1317980	NM_001008215.3(COA5):c.100-169dup	COA5	Duplication (intron variant)	not provided	GLikely benign
Select item 1290683	NM_001008215.3(COA5):c.100-239A>G	COA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 679486	NM_001008215.3(COA5):c.99+184T>C	COA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1317824	NM_001008215.3(COA5):c.99+178T>C	COA5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227436	NM_001008215.3(COA5):c.99+28G>A	COA5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 772204	NM_001008215.3(COA5):c.84G>C (p.Ser28=)	COA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1936469	NM_001008215.3(COA5):c.63G>C (p.Leu21=)	COA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 706979	NM_001008215.3(COA5):c.27G>T (p.Pro9=)	COA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 559351	NM_001008215.3(COA5):c.26C>T (p.Pro9Leu)	COA5 (P9L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2816140	NM_001008215.3(COA5):c.24G>A (p.Lys8=)	COA5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 509861	NM_001008215.3(COA5):c.-23C>T	COA5	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 668339	NM_001008215.3(COA5):c.-32A>G	COA5	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1318200	NM_001008215.3(COA5):c.-69C>G	COA5	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 1317510	NM_001008215.3(COA5):c.-71C>T	COA5	Single nucleotide variant (5 prime UTR variant)	not provided	GLikely benign
Select item 671644	NM_001008215.2(COA5):c.-130G>C	COA5	Single nucleotide variant	not provided	GBenign
Select item 670015	NM_001008215.2(COA5):c.-300G>A	COA5, UNC50	Single nucleotide variant (5 prime UTR variant)	not provided	GBenign
Select item 2685857	GRCh37/hg19 2q11.1-11.2(chr2:95773428-102550061)x3	ACTR1B, ADRA2B +64 more	Copy number gain	not provided	GLikely pathogenic
Select item 1808615	GRCh37/hg19 2q11.1-11.2(chr2:95341388-100340514)x3	ACTR1B, ADRA2B +54 more	Copy number gain	not provided	GLikely pathogenic
Select item 1708190	GRCh37/hg19 2p25.1-q13(chr2:11504318-111365996)x1	ACTG2, ACTR1B +529 more	Copy number loss	See cases	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 562679	GRCh37/hg19 2q11.1-13(chr2:96353030-114045463)x3	C2orf15, C2orf49 +122 more	Copy number gain	not provided	GPathogenic
Select item 524189	Single allele	ACMSD, C2orf27A +486 more	Deletion	not provided	GLikely pathogenic
Select item 443415	GRCh37/hg19 2q11.1-12.2(chr2:95518497-107186127)	ACTR1B, ADRA2B +86 more	Copy number gain	See cases	GUncertain significance
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 395690	GRCh37/hg19 2q11.1-12.3(chr2:95529039-108518266)	ACTR1B, ADRA2B +88 more	Copy number gain	See cases	GPathogenic
Select item 394206	GRCh37/hg19 2q11.1-11.2(chr2:95691600-100587394)	AFF3, ADRA2B +53 more	Copy number gain	See cases	GPathogenic

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Items: 43