"Genome-Nilou Lab"[submitter] AND "SPEN"[gene] - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2585664	NM_015001.3(SPEN):c.1635+6C>T	SPEN	Single nucleotide variant (intron variant)	Radio-Tartaglia syndrome	GBenign
Select item 1333155	NM_015001.3(SPEN):c.3272T>C (p.Leu1091Pro)	SPEN (L1091P)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 1268492	NM_015001.3(SPEN):c.7078A>G (p.Asn2360Asp)	SPEN (N2360D)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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