LOC130059127[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
Select item 3235339	NM_199456.3(SPMIP8):c.475G>C (p.Gly159Arg)	LOC130059127, SPMIP8 (G159R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298015	NM_199456.3(SPMIP8):c.491A>G (p.Tyr164Cys)	LOC130059127, SPMIP8 (Y164C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar