ClinVar for Gene (Select 102466752) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1696636	Single allele	IRX5, IRX6 +189 more	Deletion	not provided	GPathogenic
Select item 1229810	NM_001126108.2(SLC12A3):c.2857-63G>A	MIR6863, SLC12A3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1194439	NM_001126108.2(SLC12A3):c.2857-120A>G	MIR6863, SLC12A3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1186547	NM_001126108.2(SLC12A3):c.2857-122G>A	SLC12A3, MIR6863	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 1184380	Single allele	SLC38A7, SLC6A2 +519 more	Duplication	not provided	GPathogenic
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 144256	GRCh38/hg38 16q12.2-21(chr16:55457477-63841622)x1	ADGRG1, ADGRG3 +244 more	Copy number loss	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic

ClinVar