SNORA53[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	FERRY3, FGD4 +4837 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 148826	GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3	ACTR6, ANKS1B +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 1183192	NM_002635.4(SLC25A3):c.642-145A>G	SLC25A3, SNORA53	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1269840	NM_002635.4(SLC25A3):c.642-109A>G	SLC25A3, SNORA53	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1228798	NM_002635.4(SLC25A3):c.642-90C>T	SLC25A3, SNORA53	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign

ClinVar