"Revvity Omics, Revvity"[submitter] AND "SPEN"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2690068	NM_015001.3(SPEN):c.70G>A (p.Glu24Lys)	SPEN, SPEN-AS1 (E24K)	Single nucleotide variant (missense variant +1 more)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2436299	NM_015001.3(SPEN):c.109A>G (p.Ile37Val)	SPEN (I37V)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2436296	NM_015001.3(SPEN):c.3307T>G (p.Ser1103Ala)	SPEN (S1103A)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2436301	NM_015001.3(SPEN):c.3400T>A (p.Cys1134Ser)	SPEN (C1134S)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2436300	NM_015001.3(SPEN):c.3886C>G (p.Pro1296Ala)	SPEN (P1296A)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2436291	NM_015001.3(SPEN):c.5160G>C (p.Glu1720Asp)	SPEN (E1720D)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2436290	NM_015001.3(SPEN):c.5893G>A (p.Glu1965Lys)	SPEN (E1965K)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2436293	NM_015001.3(SPEN):c.6380C>T (p.Pro2127Leu)	SPEN (P2127L)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2436294	NM_015001.3(SPEN):c.7403C>T (p.Pro2468Leu)	SPEN (P2468L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2436298	NM_015001.3(SPEN):c.8207C>T (p.Ala2736Val)	SPEN (A2736V)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2436292	NM_015001.3(SPEN):c.8987C>T (p.Thr2996Ile)	SPEN (T2996I)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2436302	NM_015001.3(SPEN):c.10015A>G (p.Thr3339Ala)	SPEN (T3339A)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2436295	NM_015001.3(SPEN):c.10070_10087dup (p.Pro3362_Ala3363insValGlnSerThrGlnPro)	SPEN	Duplication (inframe_insertion)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2436297	NM_015001.3(SPEN):c.10618C>G (p.Leu3540Val)	SPEN (L3540V)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance