ClinVar for MedGen (Select 162878) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2506544	GRCh37/hg19 11q23.3-25(chr11:120531028-134257553)	JHY, RPUSD4 +107 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 627517	NM_001143820.2(ETS1):c.1044_1049delinsTT (p.Lys349fs)	ETS1 (K305fs +2 more)	Indel (frameshift variant +1 more)	11q partial monosomy syndrome	GPathogenic
Select item 627497	Single allele	FLI1	Deletion	11q partial monosomy syndrome	GLikely pathogenic
Select item 625595	GRCh37/hg19 11q25(chr11:133325079-134157243)	ACAD8, GLB1L3 +8 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 625594	GRCh37/hg19 11q24.2-25(chr11:125446101-134904063)	ACAD8, ACRV1 +51 more	Copy number loss	11q partial monosomy syndrome	GPathogenic
Select item 424635	NM_002017.5(FLI1):c.1010G>A (p.Arg337Gln)	FLI1 (R337Q +3 more)	Single nucleotide variant (missense variant)	11q partial monosomy syndrome +1 more	GConflicting classifications of pathogenicity

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