ClinVar for MedGen (Select 324644) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 978654	NM_001142864.4(PIEZO1):c.4885G>A (p.Gly1629Arg)	PIEZO1 (G1629R)	Single nucleotide variant (missense variant)	Thickened nuchal skin fold +3 more	GUncertain significance
Select item 978653	NM_001142864.4(PIEZO1):c.4519G>C (p.Val1507Leu)	PIEZO1 (V1507L)	Single nucleotide variant (missense variant)	Thickened nuchal skin fold +2 more	GUncertain significance
Select item 978652	NM_001142864.4(PIEZO1):c.4610_4617dup (p.Ser1540delinsAlaProTer)	PIEZO1	Duplication (nonsense)	Thickened nuchal skin fold +1 more	GLikely pathogenic
Select item 978651	NM_001142864.4(PIEZO1):c.1536_1537del (p.Cys513fs)	LOC100289580, PIEZO1 (C513fs)	Deletion (frameshift variant)	Thickened nuchal skin fold +1 more	GLikely pathogenic
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)	Otospondylomegaepiphyseal dysplasia, autosomal dominant +8 more	GPathogenic/Likely pathogenic
Select item 267846	46;X;t(X;17)(q22;p13.3)dn		Translocation	Short nose +8 more	GPathogenic

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