"Revvity Omics, Revvity"[submitter] AND "ANTXR2"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2434220	NM_058172.6(ANTXR2):c.297-1G>A	ANTXR2	Single nucleotide variant (splice acceptor variant)	Hyaline fibromatosis syndrome	GLikely pathogenic
Select item 1323915	NM_058172.6(ANTXR2):c.297-2del	ANTXR2	Deletion (splice acceptor variant)	Hyaline fibromatosis syndrome	GLikely pathogenic
Select item 280129	NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro)	ANTXR2 (L45P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic

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