ClinVar for MedGen (Select 1778557) - ClinVar

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Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3024214	NM_015001.3(SPEN):c.6007G>T (p.Glu2003Ter)	SPEN (E2003*)	Single nucleotide variant (nonsense)	Radio-Tartaglia syndrome	GLikely pathogenic
Select item 2691008	NM_015001.3(SPEN):c.6164del (p.Pro2055fs)	SPEN (P2055fs)	Deletion (frameshift variant)	Radio-Tartaglia syndrome	GPathogenic
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 2664874	NM_015001.3(SPEN):c.961C>T (p.Gln321Ter)	SPEN (Q321*)	Single nucleotide variant (nonsense)	Radio-Tartaglia syndrome	GLikely pathogenic
Select item 2637757	NM_015001.3(SPEN):c.9008C>A (p.Ser3003Ter)	SPEN (S3003*)	Single nucleotide variant (nonsense)	Radio-Tartaglia syndrome	GPathogenic
Select item 2585664	NM_015001.3(SPEN):c.1635+6C>T	SPEN	Single nucleotide variant (intron variant)	Radio-Tartaglia syndrome +1 more	GBenign
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 2576558	NM_015001.3(SPEN):c.7186C>T (p.Gln2396Ter)	SPEN (Q2396*)	Single nucleotide variant (nonsense)	Radio-Tartaglia syndrome	GLikely pathogenic
Select item 2573203	NM_015001.3(SPEN):c.3613C>T (p.Arg1205Cys)	SPEN (R1205C)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2572607	NM_015001.3(SPEN):c.4558C>T (p.Gln1520Ter)	SPEN (Q1520*)	Single nucleotide variant (nonsense)	Radio-Tartaglia syndrome	GLikely pathogenic
Select item 2572358	NM_015001.3(SPEN):c.1945del (p.Asp649fs)	SPEN (D649fs)	Deletion (frameshift variant)	Radio-Tartaglia syndrome	GLikely pathogenic
Select item 2506478	NM_015001.3(SPEN):c.9822del (p.Ser3275fs)	SPEN (S3275fs)	Deletion (frameshift variant)	Radio-Tartaglia syndrome	GLikely pathogenic
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 2436294	NM_015001.3(SPEN):c.7403C>T (p.Pro2468Leu)	SPEN (P2468L)	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 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 2431725	NM_015001.3(SPEN):c.2720C>T (p.Thr907Ile)	SPEN (T907I)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2431700	NM_015001.3(SPEN):c.8239A>C (p.Thr2747Pro)	SPEN (T2747P)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 2430170	NM_015001.3(SPEN):c.6925dup (p.Ser2309fs)	SPEN (S2309fs)	Duplication (frameshift variant)	Radio-Tartaglia syndrome	GPathogenic
Select item 2398431	NM_015001.3(SPEN):c.10391G>C (p.Gly3464Ala)	SPEN (G3464A)	Single nucleotide variant (missense variant)	SPEN-related condition +3 more	GBenign/Likely benign
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
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 1805886	NM_015001.3(SPEN):c.922C>T (p.Arg308Ter)	SPEN (R308*)	Single nucleotide variant (nonsense)	Radio-Tartaglia syndrome	GPathogenic
Select item 1805177	NM_015001.3(SPEN):c.9361C>T (p.Arg3121Trp)	SPEN (R3121W)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 1709827	NM_015001.3(SPEN):c.7464dup (p.Ile2489fs)	SPEN (I2489fs)	Duplication (frameshift variant)	Radio-Tartaglia syndrome	GPathogenic
Select item 1709065	NM_015001.3(SPEN):c.685C>T (p.Arg229Ter)	SPEN (R229*)	Single nucleotide variant (nonsense)	Radio-Tartaglia syndrome	GLikely pathogenic
Select item 1708238	NM_015001.3(SPEN):c.4828C>T (p.Gln1610Ter)	SPEN (Q1610*)	Single nucleotide variant (nonsense)	Radio-Tartaglia syndrome	GPathogenic
Select item 1707514	NM_015001.3(SPEN):c.4943_4944insTA (p.Glu1648fs)	SPEN (E1648fs)	Insertion (frameshift variant)	Radio-Tartaglia syndrome	GPathogenic
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 1694493	NM_015001.3(SPEN):c.5567A>G (p.Asn1856Ser)	SPEN (N1856S)	Single nucleotide variant (missense variant)	SPEN-related condition +2 more	GBenign/Likely benign
Select item 1683667	NM_015001.3(SPEN):c.7788A>G (p.Ile2596Met)	SPEN (I2596M)	Single nucleotide variant (missense variant)	Radio-Tartaglia syndrome	GUncertain significance
Select item 1683666	NM_015001.3(SPEN):c.2804_2807del (p.Val935fs)	SPEN (V935fs)	Deletion (frameshift variant)	Radio-Tartaglia syndrome	GLikely pathogenic
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
Select item 1343198	NM_015001.3(SPEN):c.92G>A (p.Arg31His)	SPEN (R31H)	Single nucleotide variant (missense variant)	Developmental disorder +1 more	GConflicting classifications of pathogenicity
Select item 1333350	NM_015001.3(SPEN):c.5927del (p.Lys1976fs)	SPEN (K1976fs)	Deletion (frameshift variant)	Radio-Tartaglia syndrome	GLikely pathogenic
Select item 1333155	NM_015001.3(SPEN):c.3272T>C (p.Leu1091Pro)	SPEN (L1091P)	Single nucleotide variant (missense variant)	SPEN-related condition +1 more	GBenign
Select item 1329951	NM_015001.3(SPEN):c.2104C>T (p.Arg702Ter)	SPEN (R702*)	Single nucleotide variant (nonsense)	Radio-Tartaglia syndrome	GPathogenic
Select item 1301995	NM_015001.3(SPEN):c.4345G>T (p.Glu1449Ter)	SPEN (E1449*)	Single nucleotide variant (nonsense)	Radio-Tartaglia syndrome	GPathogenic
Select item 1301851	NM_015001.3(SPEN):c.7144C>T (p.Gln2382Ter)	SPEN (Q2382*)	Single nucleotide variant (nonsense)	Radio-Tartaglia syndrome	GPathogenic
Select item 1268492	NM_015001.3(SPEN):c.7078A>G (p.Asn2360Asp)	SPEN (N2360D)	Single nucleotide variant (missense variant)	SPEN-related condition +2 more	GBenign
Select item 992618	NM_015001.3(SPEN):c.7338_7339dup (p.Arg2447fs)	SPEN (R2447fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 992611	NM_015001.3(SPEN):c.6087_6088del (p.Glu2029fs)	SPEN (E2029fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 992610	NM_015001.3(SPEN):c.6226_6227del (p.Lys2076fs)	SPEN (K2076fs)	Deletion (frameshift variant)	Radio-Tartaglia syndrome +1 more	GConflicting classifications of pathogenicity
Select item 992609	NM_015001.3(SPEN):c.6058C>T (p.Gln2020Ter)	SPEN (Q2020*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 992601	NM_015001.3(SPEN):c.2101G>T (p.Glu701Ter)	SPEN (E701*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 992344	NM_015001.3(SPEN):c.5806C>T (p.Arg1936Ter)	SPEN (R1936*)	Single nucleotide variant (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 986085	NM_015001.3(SPEN):c.6974_6975del (p.Leu2325fs)	SPEN (L2325fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic

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Items: 61