LOC129992736[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58029	GRCh38/hg38 4q12-22.3(chr4:51831622-97505618)x3	LOC129389216, LOC129389217 +757 more	Copy number gain	See cases	GPathogenic
Select item 1684642	NC_000004.12:g.67833055_82716065del	BTC, CABS1 +330 more	Deletion	See cases	GPathogenic
Select item 155391	GRCh38/hg38 4q13.2-22.3(chr4:68686088-95294456)x3	LOC129992695, LOC129992696 +533 more	Copy number gain	See cases	GPathogenic
Select item 149262	GRCh38/hg38 4q13.3-21.3(chr4:72262258-86002147)x3	ABRAXAS1, ADAMTS3 +331 more	Copy number gain	See cases	GPathogenic
Select item 57143	GRCh38/hg38 4q21.1-21.23(chr4:75453111-84094295)x1	LOC129992714, LOC129992715 +236 more	Copy number loss	See cases	GPathogenic
Select item 152987	GRCh38/hg38 4q21.1-21.21(chr4:75801143-79005805)x3	ANXA3, ART3 +107 more	Copy number gain	See cases	GPathogenic
Select item 3024368	GRCh38/hg38 4q21.21(chr4:78722180-79522307)	BMP2K, BMP2K-DT +15 more	Copy number gain	Autism spectrum disorder	GUncertain significance
Select item 2654839	NM_001040202.2(PAQR3):c.90G>A (p.Leu30=)	LOC129992736, PAQR3	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 3208530	NM_001040202.2(PAQR3):c.82A>G (p.Ile28Val)	LOC129992736, PAQR3 (I28V)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

ClinVar