LOC126863012[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC613266, MACROD2 +950 more	Copy number gain	See cases	GPathogenic
Select item 146032	GRCh38/hg38 20q11.21(chr20:31254983-33473080)x3	LOC121627902, LOC121853002 +160 more	Copy number gain	See cases	GPathogenic
Select item 145102	GRCh38/hg38 20q11.21(chr20:31254983-32575288)x3	ABALON, ASXL1 +104 more	Copy number gain	See cases	GPathogenic
Select item 153447	GRCh38/hg38 20q11.21-11.23(chr20:32062768-35906606)x3	ACSS2, ACTL10 +254 more	Copy number gain	See cases	GPathogenic
Select item 2349245	NM_014742.4(TM9SF4):c.7A>G (p.Thr3Ala)	LOC126863012, TM9SF4 (T3A)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3178168	NM_014742.4(TM9SF4):c.11C>T (p.Ala4Val)	LOC126863012, TM9SF4 (A4V)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance

ClinVar