LOC130057026[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146334	GRCh38/hg38 15q21.1-21.2(chr15:47460844-52494222)x1	AP4E1, ATP8B4 +190 more	Copy number loss	See cases	GPathogenic
Select item 2597962	NM_014335.3(EID1):c.11T>C (p.Met4Thr)	EID1, LOC130057026 +1 more (M4T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087827	NM_014335.3(EID1):c.37G>C (p.Glu13Gln)	EID1, LOC130057026 +1 more (E13Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3087828	NM_014335.3(EID1):c.49C>G (p.Leu17Val)	EID1, LOC130057026 +1 more (L17V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341776	NM_014335.3(EID1):c.65T>C (p.Met22Thr)	EID1, LOC130057026 +1 more (M22T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2315054	NM_014335.3(EID1):c.149A>C (p.Gln50Pro)	EID1, LOC130057026 +1 more (Q50P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2319205	NM_014335.3(EID1):c.152A>G (p.Gln51Arg)	EID1, LOC130057026 +1 more (Q51R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410834	NM_014335.3(EID1):c.170C>G (p.Pro57Arg)	EID1, LOC130057026 +1 more (P57R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2382800	NM_014335.3(EID1):c.184G>A (p.Glu62Lys)	EID1, LOC130057026 +1 more (E62K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2492922	NM_014335.3(EID1):c.194C>T (p.Pro65Leu)	EID1, LOC130057026 +1 more (P65L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3274922	NM_014335.3(EID1):c.198G>A (p.Met66Ile)	EID1, LOC130057026 +1 more (M66I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance