LOC126805988[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 545154	NC_000001.11:g.(?_204033173)_(208209798_?)del	LOC129932391, PIK3C2B +278 more	Deletion	Autism	GLikely pathogenic
Select item 153790	GRCh38/hg38 1q32.1-42.12(chr1:204764914-225408698)x3	LOC129388734, LOC129388735 +723 more	Copy number gain	See cases	GPathogenic
Select item 152666	GRCh38/hg38 1q32.1(chr1:205609521-205666100)x3	ELK4, LOC126805988 +6 more	Copy number gain	See cases	GUncertain significance
Select item 3319869	NM_033102.3(SLC45A3):c.41G>A (p.Arg14Gln)	LOC126805988, SLC45A3 (R14Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3164893	NM_033102.3(SLC45A3):c.8A>G (p.Gln3Arg)	LOC126805988, SLC45A3 (Q3R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar