LOC130060770[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	AARSD1, AATF +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC126862582, LOC126862583 +1753 more	Copy number gain	See cases	GPathogenic
Select item 58696	GRCh38/hg38 17q12-21.31(chr17:39199873-45629579)x3	LOC130060786, LOC130060787 +633 more	Copy number gain	See cases	GPathogenic
Select item 2208891	NM_032339.5(MIEN1):c.131G>C (p.Ser44Thr)	LOC130060770, MIEN1 (S44T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309011	NM_032339.5(MIEN1):c.67G>A (p.Val23Ile)	LOC130060770, MIEN1 (V23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126436	NM_032339.5(MIEN1):c.26C>T (p.Ser9Phe)	LOC130060770, MIEN1 (S9F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3126435	NM_032339.5(MIEN1):c.23C>G (p.Thr8Arg)	LOC130060770, MIEN1 (T8R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2215348	NM_032339.5(MIEN1):c.23C>T (p.Thr8Met)	LOC130060770, MIEN1 (T8M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

ClinVar