CSNK2B[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155430	GRCh38/hg38 6p25.3-12.3(chr6:156974-46789291)x3	HCG26, HCG27 +2581 more	Copy number gain	See cases	GPathogenic
Select item 1244893	NM_001320.7(CSNK2B):c.-11-28A>C	CSNK2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3051024	NM_001320.7(CSNK2B):c.-1G>C	CSNK2B	Single nucleotide variant (5 prime UTR variant)	CSNK2B-related disorder	GLikely benign
Select item 932465	NM_001320.7(CSNK2B):c.1A>G (p.Met1Val)	CSNK2B (M1V)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 1254603	NM_001320.7(CSNK2B):c.2T>G (p.Met1Arg)	CSNK2B (M1R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 562216	NM_001320.7(CSNK2B):c.2T>A (p.Met1Lys)	CSNK2B (M1K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3048258	NM_001320.7(CSNK2B):c.6C>T (p.Ser2=)	CSNK2B	Single nucleotide variant (synonymous variant)	CSNK2B-related disorder	GLikely benign
Select item 2656412	NM_001320.7(CSNK2B):c.13G>T (p.Glu5Ter)	CSNK2B (E5*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 452393	NM_001320.7(CSNK2B):c.27del (p.Ser8_Trp9insTer)	CSNK2B	Deletion (nonsense)	not provided	GPathogenic
Select item 2446135	NM_001320.7(CSNK2B):c.27G>A (p.Trp9Ter)	CSNK2B (W9*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1803327	NM_001320.7(CSNK2B):c.32C>T (p.Ser11Phe)	CSNK2B (S11F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 489241	NM_001320.7(CSNK2B):c.36G>A (p.Trp12Ter)	CSNK2B (W12*)	Single nucleotide variant (nonsense)	Poirier-Bienvenu neurodevelopmental syndrome +1 more	GPathogenic/Likely pathogenic
Select item 3027351	NM_001320.7(CSNK2B):c.59_62dup (p.Phe21fs)	CSNK2B (F21fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1307205	NM_001320.7(CSNK2B):c.62TCT[1] (p.Phe22del)	CSNK2B (F22del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2230892	NM_001320.7(CSNK2B):c.67T>C (p.Cys23Arg)	CSNK2B (C23R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 870828	NM_001320.7(CSNK2B):c.68G>T (p.Cys23Phe)	CSNK2B (C23F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339864	NM_001320.7(CSNK2B):c.70G>T (p.Glu24Ter)	CSNK2B (E24*)	Single nucleotide variant (nonsense)	CSNK2B-related disorder	Gnot provided
Select item 2429801	NM_001320.7(CSNK2B):c.72+1G>T	CSNK2B	Single nucleotide variant (splice donor variant)	Autism spectrum disorder	GLikely pathogenic
Select item 985139	NM_001320.7(CSNK2B):c.72+1G>A	CSNK2B	Single nucleotide variant (splice donor variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 1526270	NM_001320.7(CSNK2B):c.72+2T>G	CSNK2B	Single nucleotide variant (splice donor variant)	Autosomal dominant non-syndromic intellectual disability +1 more	GLikely pathogenic
Select item 1277962	NM_001320.7(CSNK2B):c.72+78G>A	CSNK2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 521208	NM_001320.7(CSNK2B):c.73-2A>G	CSNK2B	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases	GLikely pathogenic
Select item 1328939	NM_001320.7(CSNK2B):c.73-1G>A	CSNK2B	Single nucleotide variant (splice acceptor variant)	Poirier-Bienvenu neurodevelopmental syndrome	GLikely pathogenic
Select item 1065509	NM_001320.7(CSNK2B):c.91C>T (p.Gln31Ter)	CSNK2B (Q31*)	Single nucleotide variant (nonsense)	Poirier-Bienvenu neurodevelopmental syndrome	GPathogenic
Select item 1685680	NM_001320.7(CSNK2B):c.94G>T (p.Asp32Tyr)	CSNK2B (D32Y)	Single nucleotide variant (missense variant)	Poirier-Bienvenu neurodevelopmental syndrome	GPathogenic
Select item 520596	NM_001320.7(CSNK2B):c.94G>A (p.Asp32Asn)	CSNK2B (D32N)	Single nucleotide variant (missense variant)	CSNK2B-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3024534	NM_001320.7(CSNK2B):c.95A>C (p.Asp32Ala)	CSNK2B (D32A)	Single nucleotide variant (missense variant)	Poirier-Bienvenu neurodevelopmental syndrome	GPathogenic
Select item 1709608	NM_001320.7(CSNK2B):c.99dup (p.Phe34fs)	CSNK2B (F34fs)	Duplication (frameshift variant)	Poirier-Bienvenu neurodevelopmental syndrome	GLikely pathogenic
Select item 1275774	NM_001320.7(CSNK2B):c.101T>G (p.Phe34Cys)	CSNK2B (F34C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 504210	NM_001320.7(CSNK2B):c.105dup (p.Leu36fs)	CSNK2B (L36fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 430724	NM_001320.7(CSNK2B):c.108dup (p.Thr37fs)	CSNK2B (T37fs)	Duplication (frameshift variant)	Poirier-Bienvenu neurodevelopmental syndrome +1 more	GPathogenic
Select item 1690342	NM_001320.7(CSNK2B):c.107T>C (p.Leu36Pro)	CSNK2B (L36P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 712616	NM_001320.7(CSNK2B):c.108T>A (p.Leu36=)	CSNK2B	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2229410	NM_001320.7(CSNK2B):c.116T>C (p.Leu39Pro)	CSNK2B (L39P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1685289	NM_001320.7(CSNK2B):c.116T>G (p.Leu39Arg)	CSNK2B (L39R)	Single nucleotide variant (missense variant)	Poirier-Bienvenu neurodevelopmental syndrome	GLikely pathogenic
Select item 2581063	NM_001320.7(CSNK2B):c.124C>T (p.Gln42Ter)	CSNK2B (Q42*)	Single nucleotide variant (nonsense)	Poirier-Bienvenu neurodevelopmental syndrome	GPathogenic
Select item 426599	NM_001320.7(CSNK2B):c.139C>T (p.Arg47Ter)	CSNK2B (R47*)	Single nucleotide variant (nonsense)	CSNK2B-related disorder +3 more	GPathogenic
Select item 1331595	NM_001320.7(CSNK2B):c.146C>A (p.Ala49Asp)	CSNK2B (A49D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3061766	NM_001320.7(CSNK2B):c.149T>C (p.Leu50Pro)	CSNK2B, LY6G5B (L50P)	Single nucleotide variant (missense variant)	Poirier-Bienvenu neurodevelopmental syndrome	GLikely pathogenic
Select item 2628412	NM_001320.7(CSNK2B):c.175+1G>A	CSNK2B	Single nucleotide variant (splice donor variant)	CSNK2B-related disorder	GLikely pathogenic
Select item 805768	NM_001320.7(CSNK2B):c.175+2T>G	CSNK2B	Single nucleotide variant (splice donor variant)	Poirier-Bienvenu neurodevelopmental syndrome	GPathogenic
Select item 1271724	NM_001320.7(CSNK2B):c.175+213_175+215del	CSNK2B	Deletion (intron variant)	not provided	GBenign
Select item 1246751	NM_001320.7(CSNK2B):c.175+217_175+220del	CSNK2B	Deletion (intron variant)	not provided	GBenign
Select item 562217	NM_001320.7(CSNK2B):c.181G>T (p.Glu61Ter)	CSNK2B (E61*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 2583035	NM_001320.7(CSNK2B):c.192del (p.Asp64fs)	CSNK2B (D64fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1335619	NM_001320.7(CSNK2B):c.194dup (p.Asn65fs)	CSNK2B (N65fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 1684577	NM_001320.7(CSNK2B):c.202C>T (p.Gln68Ter)	CSNK2B (Q68*)	Single nucleotide variant (nonsense)	Poirier-Bienvenu neurodevelopmental syndrome	GLikely pathogenic
Select item 3250734	NM_001320.7(CSNK2B):c.203A>T (p.Gln68Leu)	CSNK2B (Q68L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1197434	NM_001320.7(CSNK2B):c.229G>A (p.Glu77Lys)	CSNK2B (E77K)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 690282	NM_001320.7(CSNK2B):c.229G>T (p.Glu77Ter)	CSNK2B (E77*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 1321735	NM_001320.7(CSNK2B):c.236T>C (p.Leu79Pro)	CSNK2B (L79P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 521835	NM_001320.7(CSNK2B):c.238T>A (p.Tyr80Asn)	CSNK2B (Y80N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985413	NM_001320.7(CSNK2B):c.245T>A (p.Leu82Ter)	CSNK2B (L82*)	Single nucleotide variant (nonsense)	Inborn genetic diseases	GPathogenic
Select item 3053440	NM_001320.7(CSNK2B):c.252C>T (p.His84=)	CSNK2B	Single nucleotide variant (synonymous variant)	CSNK2B-related disorder	GLikely benign
Select item 985324	NM_001320.7(CSNK2B):c.256C>T (p.Arg86Cys)	CSNK2B (R86C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2502649	NM_001320.7(CSNK2B):c.257G>A (p.Arg86His)	CSNK2B (R86H)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1803580	NM_001320.7(CSNK2B):c.257G>C (p.Arg86Pro)	CSNK2B (R86P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 805772	NM_001320.7(CSNK2B):c.265del (p.Thr90fs)	CSNK2B (T90fs)	Deletion (frameshift variant)	Poirier-Bienvenu neurodevelopmental syndrome	GUncertain significance
Select item 1199211	NM_001320.7(CSNK2B):c.268dup (p.Thr90fs)	CSNK2B (T90fs)	Duplication (frameshift variant)	CSNK2B-related intellectual disability with or without epilepsy	GPathogenic
Select item 2429637	NM_001320.7(CSNK2B):c.277G>A (p.Gly93Ser)	CSNK2B (G93S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578995	NM_001320.7(CSNK2B):c.278G>T (p.Gly93Val)	CSNK2B (G93V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1712706	NM_001320.7(CSNK2B):c.286C>T (p.Gln96Ter)	CSNK2B (Q96*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3024528	NM_001320.7(CSNK2B):c.289A>G (p.Met97Val)	CSNK2B (M97V)	Single nucleotide variant (missense variant)	Poirier-Bienvenu neurodevelopmental syndrome	GUncertain significance
Select item 1685290	NM_001320.7(CSNK2B):c.291G>A (p.Met97Ile)	CSNK2B (M97I)	Single nucleotide variant (missense variant)	Poirier-Bienvenu neurodevelopmental syndrome	GLikely pathogenic
Select item 1527949	NM_001320.7(CSNK2B):c.291+1G>T	CSNK2B	Single nucleotide variant (splice donor variant)	Poirier-Bienvenu neurodevelopmental syndrome	GLikely pathogenic
Select item 2442343	NM_001320.7(CSNK2B):c.291+5G>C	CSNK2B	Single nucleotide variant (intron variant)	Poirier-Bienvenu neurodevelopmental syndrome	GLikely pathogenic
Select item 1182177	NM_001320.7(CSNK2B):c.292-132A>G	CSNK2B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320215	NM_001320.7(CSNK2B):c.292-2A>G	CSNK2B	Single nucleotide variant (splice acceptor variant)	Poirier-Bienvenu neurodevelopmental syndrome	GPathogenic/Likely pathogenic
Select item 1176189	NM_001320.7(CSNK2B):c.292-2A>T	CSNK2B	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1030427	NM_001320.7(CSNK2B):c.292-2A>C	CSNK2B	Single nucleotide variant (splice acceptor variant)	Poirier-Bienvenu neurodevelopmental syndrome	GPathogenic
Select item 3053867	NM_001320.7(CSNK2B):c.292T>C (p.Leu98=)	CSNK2B	Single nucleotide variant (synonymous variant)	CSNK2B-related disorder	GLikely benign
Select item 973336	NM_001320.7(CSNK2B):c.303C>G (p.Tyr101Ter)	CSNK2B (Y101*)	Single nucleotide variant (nonsense)	Poirier-Bienvenu neurodevelopmental syndrome	GLikely pathogenic
Select item 1684046	NM_001320.7(CSNK2B):c.304C>T (p.Gln102Ter)	CSNK2B (Q102*)	Single nucleotide variant (nonsense)	Poirier-Bienvenu neurodevelopmental syndrome +1 more	GPathogenic
Select item 2504917	NM_001320.7(CSNK2B):c.307C>T (p.Gln103Ter)	CSNK2B (Q103*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2500355	NM_001320.7(CSNK2B):c.310G>T (p.Gly104Ter)	CSNK2B (G104*)	Single nucleotide variant (nonsense)	Poirier-Bienvenu neurodevelopmental syndrome	GPathogenic
Select item 809892	NM_001320.7(CSNK2B):c.318T>G (p.Phe106Leu)	CSNK2B (F106L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1805765	NM_001320.7(CSNK2B):c.325T>C (p.Cys109Arg)	CSNK2B (C109R)	Single nucleotide variant (missense variant)	Poirier-Bienvenu neurodevelopmental syndrome	GUncertain significance
Select item 1320202	NM_001320.7(CSNK2B):c.332G>C (p.Arg111Pro)	CSNK2B (R111P)	Single nucleotide variant (missense variant)	Poirier-Bienvenu neurodevelopmental syndrome	GPathogenic
Select item 870829	NM_001320.7(CSNK2B):c.340T>C (p.Cys114Arg)	CSNK2B (C114R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1679612	NM_001320.7(CSNK2B):c.349C>T (p.Gln117Ter)	CSNK2B (Q117*)	Single nucleotide variant (nonsense)	Poirier-Bienvenu neurodevelopmental syndrome	GPathogenic
Select item 1806726	NM_001320.7(CSNK2B):c.365T>C (p.Ile122Thr)	CSNK2B (I122T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1301884	NM_001320.7(CSNK2B):c.367+1G>A	CSNK2B	Single nucleotide variant (splice donor variant)	Poirier-Bienvenu neurodevelopmental syndrome	GPathogenic
Select item 812520	NM_001320.7(CSNK2B):c.367+2T>C	CSNK2B	Single nucleotide variant (splice donor variant)	Poirier-Bienvenu neurodevelopmental syndrome	GPathogenic
Select item 684517	NM_001320.7(CSNK2B):c.367+5del	CSNK2B	Deletion (intron variant)	not provided	GLikely pathogenic
Select item 1285427	NM_001320.7(CSNK2B):c.367+6T>C	CSNK2B	Single nucleotide variant (intron variant)	Poirier-Bienvenu neurodevelopmental syndrome	GUncertain significance
Select item 805773	NM_001320.7(CSNK2B):c.368-2A>G	CSNK2B	Single nucleotide variant (splice acceptor variant +1 more)	Poirier-Bienvenu neurodevelopmental syndrome	GPathogenic
Select item 2579310	NM_001320.7(CSNK2B):c.368G>A (p.Gly123Asp)	CSNK2B (G123D)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 1701862	NM_001320.7(CSNK2B):c.410G>A (p.Cys137Tyr)	CSNK2B (C134Y +1 more)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GPathogenic
Select item 1709734	NM_001320.7(CSNK2B):c.446C>G (p.Ser149Ter)	CSNK2B (S146* +1 more)	Single nucleotide variant (nonsense)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
Select item 3052733	NM_001320.7(CSNK2B):c.462G>A (p.Thr154=)	CSNK2B	Single nucleotide variant (synonymous variant)	CSNK2B-related disorder	GLikely benign
Select item 2285081	NM_001320.7(CSNK2B):c.464_467del (p.Asp155fs)	CSNK2B (D152fs +1 more)	Deletion (frameshift variant)	Inborn genetic diseases	GPathogenic
Select item 795083	NM_001320.7(CSNK2B):c.462G>T (p.Thr154=)	CSNK2B	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1342887	NM_001320.7(CSNK2B):c.467_468delinsTT (p.Gly156Val)	CSNK2B (G153V +1 more)	Indel (missense variant)	Poirier-Bienvenu neurodevelopmental syndrome	GUncertain significance
Select item 1342878	NM_001320.7(CSNK2B):c.467G>A (p.Gly156Asp)	CSNK2B (G153D +1 more)	Single nucleotide variant (missense variant)	Poirier-Bienvenu neurodevelopmental syndrome	GConflicting classifications of pathogenicity
Select item 1299532	NM_001320.7(CSNK2B):c.472del (p.Tyr158fs)	CSNK2B (Y155fs +1 more)	Deletion (frameshift variant)	Poirier-Bienvenu neurodevelopmental syndrome	GPathogenic
Select item 1343861	NM_001320.7(CSNK2B):c.474C>G (p.Tyr158Ter)	CSNK2B (Y155* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2502644	NM_001320.7(CSNK2B):c.475T>G (p.Phe159Val)	CSNK2B (F156V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2545124	NM_001320.7(CSNK2B):c.491C>T (p.Pro164Leu)	CSNK2B (P161L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1285551	NM_001320.7(CSNK2B):c.491C>G (p.Pro164Arg)	CSNK2B (P161R +1 more)	Single nucleotide variant (missense variant)	Poirier-Bienvenu neurodevelopmental syndrome	GUncertain significance
Select item 1701847	NM_001320.7(CSNK2B):c.495_496del (p.Met166fs)	CSNK2B (M163fs +1 more)	Microsatellite (frameshift variant)	Neurodevelopmental disorder +1 more	GPathogenic

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