ClinVar for Gene (Select 100874058) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1707454	Single allele	ADORA2B, ARHGAP44 +228 more	Duplication	not specified	GPathogenic
Select item 1273311	NC_000017.11:g.14069166C>T	COX10, COX10-DT	Single nucleotide variant	not provided	GBenign
Select item 1216738	NC_000017.11:g.14069201G>T	COX10, COX10-DT	Single nucleotide variant	not provided	GLikely benign
Select item 673119	NM_001303.3(COX10):c.-401C>T	COX10, COX10-DT	Single nucleotide variant	not provided	GBenign
Select item 321802	NM_001303.3(COX10):c.-170C>G	COX10, COX10-DT	Single nucleotide variant (non-coding transcript variant)	Leigh syndrome +1 more	GUncertain significance
Select item 154089	GRCh38/hg38 17p13.3-12(chr17:150732-14764202)x3	ABR, ABR-AS1 +962 more	Copy number gain	See cases	GPathogenic
Select item 58693	GRCh38/hg38 17p12-11.2(chr17:10892259-17964282)x3	LOC130060335, LOC130060336 +242 more	Copy number gain	See cases	GPathogenic

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