LOC130064759[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	PLA2G4C, PLA2G4C-AS1 +363 more	Copy number gain	See cases	GPathogenic
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 161062	GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	CALM3, DACT3 +46 more	Copy number gain	See cases	GUncertain significance
Select item 33175	GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	CALM3, DACT3 +46 more	Copy number gain	See cases	GUncertain significance
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 3217877	NC_000019.10:g.46600917A>T	LOC130064759	Single nucleotide variant	not specified	GUncertain significance
Select item 3217874	NC_000019.10:g.46600947C>A	LOC130064759	Single nucleotide variant	not specified	GUncertain significance
Select item 1220149	NC_000019.10:g.46600969T>C	CALM3, LOC130064759	Single nucleotide variant	not provided	GLikely benign
Select item 1269424	NC_000019.10:g.46601055_46601056del	CALM3, LOC130064759	Deletion	not provided	GBenign

ClinVar