"GeneDx"[submitter] AND "COA5"[gene] - ClinVar - NCBI

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Items: 19

	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 59147	GRCh38/hg38 2q11.2-13(chr2:97672522-110211318)x3	AFF3, C2orf15 +373 more	Copy number gain	See cases	GPathogenic
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 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 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 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