LOC126862556[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	LOC112533659, LOC112533660 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	AARSD1, AATF +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	AARSD1, ACBD4 +633 more	Copy number gain	See cases	GPathogenic
Select item 747380	NM_032865.6(TNS4):c.1739C>T (p.Ala580Val)	LOC126862556, TNS4 (A580V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3180878	NM_032865.6(TNS4):c.1687G>T (p.Asp563Tyr)	LOC126862556, TNS4 (D563Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3180877	NM_032865.6(TNS4):c.1682G>A (p.Gly561Asp)	LOC126862556, TNS4 (G561D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar