"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "MESD"[gene - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2123924	NM_015154.3(MESD):c.80dup (p.Pro28fs)	LOC121530597, MESD (P28fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2631909	NM_015154.3(MESD):c.57GCT[6] (p.Leu26_Pro27insLeu)	LOC121530597, MESD	Microsatellite (inframe_insertion +1 more)	not provided +1 more	GUncertain significance
Select item 2498630	GRCh37/hg19 15q22.33-26.1(chr15:67358491-91644328)x3	BLM, BNC1 +209 more	Copy number gain	not provided	GPathogenic
Select item 369835	GRCh37/hg19 15q22.1-26.3(chr15:59297293-102480888)x3	SLC24A1, SLC28A1 +310 more	Copy number gain	not provided	GLikely pathogenic

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