"Baylor Genetics"[submitter] AND "SPEN"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2671904	NM_015001.3(SPEN):c.920C>G (p.Ala307Gly)	SPEN (A307G)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 1810408	NM_015001.3(SPEN):c.3978A>G (p.Ile1326Met)	SPEN (I1326M)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2442016	NM_015001.3(SPEN):c.7628A>G (p.Tyr2543Cys)	SPEN (Y2543C)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2441841	NM_015001.3(SPEN):c.7818C>A (p.Asp2606Glu)	SPEN (D2606E)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2442238	NM_015001.3(SPEN):c.9448C>G (p.Leu3150Val)	SPEN (L3150V)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2265095	NM_015001.3(SPEN):c.9896G>A (p.Ser3299Asn)	SPEN (S3299N)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome +1 more	GUncertain significance

ClinVar