LOC130061172[gene] - ClinVar - NCBI

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Items: 13

	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 59589	GRCh38/hg38 17q21.32-22(chr17:49137864-52147810)x1	ABCC3, ABI3 +203 more	Copy number loss	See cases	GPathogenic
Select item 59590	GRCh38/hg38 17q21.33-22(chr17:49974533-56807609)x1	ABCC3, ACSF2 +196 more	Copy number loss	See cases	GPathogenic
Select item 3276048	NM_017957.3(EPN3):c.1622C>A (p.Ala541Glu)	EPN3, LOC130061172 (A541E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276044	NM_017957.3(EPN3):c.1627G>A (p.Glu543Lys)	EPN3, LOC130061172 (E543K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253088	NM_017957.3(EPN3):c.1651C>G (p.Gln551Glu)	EPN3, LOC130061172 (Q551E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2593991	NM_017957.3(EPN3):c.1769T>G (p.Leu590Trp)	EPN3, LOC130061172 (L590W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249743	NM_017957.3(EPN3):c.1802A>C (p.Gln601Pro)	EPN3, LOC130061172 (Q601P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2372682	NM_017957.3(EPN3):c.1808G>A (p.Gly603Glu)	EPN3, LOC130061172 (G603E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089774	NM_017957.3(EPN3):c.1816G>C (p.Ala606Pro)	EPN3, LOC130061172 (A606P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3089775	NM_017957.3(EPN3):c.1850C>T (p.Ala617Val)	EPN3, LOC130061172 (A617V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276046	NM_017957.3(EPN3):c.1894C>A (p.Leu632Ile)	EPN3, LOC130061172 (L632I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance