LOC126863021[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	LOC130065884, LOC130065885 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59195	GRCh38/hg38 20p12.2-q12(chr20:9811433-39316956)x3	LOC130065574, LOC130065575 +950 more	Copy number gain	See cases	GPathogenic
Select item 146117	GRCh38/hg38 20q11.21-11.23(chr20:33432363-36821881)x1	AAR2, ACSS2 +214 more	Copy number loss	See cases	GPathogenic
Select item 152212	GRCh38/hg38 20q11.22-13.12(chr20:35237946-47631818)x1	AAR2, ACOT8 +568 more	Copy number loss	See cases	GPathogenic
Select item 3089373	NM_012156.2(EPB41L1):c.2138C>T (p.Pro713Leu)	EPB41L1, LOC126863021 (P639L +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614920	NM_012156.2(EPB41L1):c.2161G>T (p.Val721Phe)	EPB41L1, LOC126863021 (V522F +12 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar