Related gene-specific medical variations for Gene (Select 23013) - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366955	NM_015001.3(SPEN):c.7115_7116del (p.Gly2372fs)	SPEN (G2372fs)	Deletion (frameshift variant)	Radio-Tartaglia syndrome	GPathogenic
Select item 3363187	NM_015001.3(SPEN):c.10026+1G>T	SPEN	Single nucleotide variant (splice donor variant)	Radio-Tartaglia syndrome	GPathogenic
Select item 3361812	NM_015001.3(SPEN):c.9808C>T (p.Leu3270Phe)	SPEN (L3270F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3361305	NM_015001.3(SPEN):c.4615G>C (p.Asp1539His)	SPEN (D1539H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359840	NM_015001.3(SPEN):c.8273G>C (p.Gly2758Ala)	SPEN (G2758A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358999	NM_015001.3(SPEN):c.9031C>T (p.Arg3011Ter)	SPEN (R3011*)	Single nucleotide variant (nonsense)	Radio-Tartaglia syndrome	GPathogenic
Select item 3358998	NM_015001.3(SPEN):c.3682_3686del (p.Lys1228fs)	SPEN (K1228fs)	Microsatellite (frameshift variant)	Radio-Tartaglia syndrome	GPathogenic
Select item 3047959	NM_015001.3(SPEN):c.-1C>T	SPEN, SPEN-AS1	Single nucleotide variant (5 prime UTR variant)	SPEN-related disorder	GLikely benign
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 2671904	NM_015001.3(SPEN):c.920C>G (p.Ala307Gly)	SPEN (A307G)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2638297	NM_015001.3(SPEN):c.24C>T (p.Leu8=)	SPEN, SPEN-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2584649	NM_015001.3(SPEN):c.9649G>T (p.Val3217Leu)	SPEN (V3217L)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2576179	NM_015001.3(SPEN):c.1934A>G (p.Asp645Gly)	SPEN (D645G)	Single nucleotide variant (missense variant)	not provided	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 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 2436302	NM_015001.3(SPEN):c.10015A>G (p.Thr3339Ala)	SPEN (T3339A)	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 2436299	NM_015001.3(SPEN):c.109A>G (p.Ile37Val)	SPEN (I37V)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	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 2436297	NM_015001.3(SPEN):c.10618C>G (p.Leu3540Val)	SPEN (L3540V)	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 2436295	NM_015001.3(SPEN):c.10070_10087dup (p.Pro3362_Ala3363insValGlnSerThrGlnPro)	SPEN	Duplication (inframe_insertion)	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 2436292	NM_015001.3(SPEN):c.8987C>T (p.Thr2996Ile)	SPEN (T2996I)	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 2429941	NM_015001.3(SPEN):c.5780C>A (p.Pro1927Gln)	SPEN (P1927Q)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429940	NM_015001.3(SPEN):c.9811A>G (p.Thr3271Ala)	SPEN (T3271A)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2429939	NM_015001.3(SPEN):c.7232C>A (p.Ser2411Ter)	SPEN (S2411*)	Single nucleotide variant (nonsense)	Autism spectrum disorder	GLikely pathogenic
Select item 2429938	NM_015001.3(SPEN):c.4919C>T (p.Pro1640Leu)	SPEN (P1640L)	Single nucleotide variant (missense variant)	Autism spectrum disorder	GLikely benign
Select item 2126807	NM_015001.3(SPEN):c.72G>C (p.Glu24Asp)	SPEN, SPEN-AS1 (E24D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1700179	NM_015001.3(SPEN):c.6006dup (p.Glu2003Ter)	SPEN (E2003*)	Duplication (nonsense)	Neurodevelopmental delay	GPathogenic
Select item 1700156	NM_015001.3(SPEN):c.5098del (p.Gln1699_Val1700insTer)	SPEN	Deletion (nonsense)	Neurodevelopmental delay	GLikely pathogenic
Select item 1696701	NM_015001.3(SPEN):c.4909G>T (p.Val1637Phe)	SPEN (V1637F)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 1679720	NM_015001.3(SPEN):c.7453G>A (p.Ala2485Thr)	SPEN (A2485T)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 1679611	NM_015001.3(SPEN):c.3373G>C (p.Glu1125Gln)	SPEN (E1125Q)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance

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Links from Gene

Items: 38