LOC121627880[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	LOC129391127, LOC129391128 +363 more	Copy number gain	See cases	GPathogenic
Select item 60278	GRCh38/hg38 19q13.32(chr19:45287256-45734078)x3	CKM, EML2 +69 more	Copy number gain	See cases	GUncertain significance
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 58342	GRCh38/hg38 19q13.32(chr19:45481858-45710518)x1	EML2, EML2-AS1 +34 more	Copy number loss	See cases	GUncertain significance
Select item 57097	GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1	MEIOSIN, MIR330 +115 more	Copy number loss	See cases	GPathogenic
Select item 3088662	NM_012155.4(EML2):c.160C>G (p.Arg54Gly)	EML2, LOC121627880 (R201G +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088661	NM_012155.4(EML2):c.99G>A (p.Met33Ile)	EML2, LOC121627880 (M11I +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3088660	NM_012155.4(EML2):c.95T>G (p.Met32Arg)	EML2, LOC121627880 (M178R +5 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance

ClinVar