ClinVar for Gene (Select 388553) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2650124	NM_001310124.2(MEIOSIN):c.1359CAGCTC[8] (p.Ser465_Glu466insSerSerSerSer)	MEIOSIN	Microsatellite (inframe_insertion)	not provided	GLikely benign
Select item 2650123	NM_001310124.2(MEIOSIN):c.513G>A (p.Gly171=)	MEIOSIN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
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 57097	GRCh38/hg38 19q13.32(chr19:45595873-46600026)x1	MEIOSIN, MIR330 +115 more	Copy number loss	See cases	GPathogenic

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