ClinVar for MedGen (Select 60195) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1705938	GRCh37/hg19 15q11.2(chr15:22770421-23082328)x1	CYFIP1, NIPA1 +2 more	Copy number loss	Cystic hygroma +1 more	GUncertain significance
Select item 978633	NM_080680.3(COL11A2):c.1773+8T>A	COL11A2	Single nucleotide variant (intron variant)	Heart, malformation of +3 more	GUncertain significance
Select item 497724	NM_080680.3(COL11A2):c.966dup (p.Thr323fs)	COL11A2 (T323fs)	Duplication (frameshift variant +1 more)	Heart, malformation of +8 more	GConflicting classifications of pathogenicity
Select item 267930	46;XX;t(6;17)(q13;q21)dn		Translocation	Cystic hygroma	GLikely pathogenic

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