ClinVar for Gene (Select 1457) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370910	NM_177559.3(CSNK2A1):c.920_921dup (p.Asp308fs)	CSNK2A1 (D172fs +1 more)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 3369951	NM_177559.3(CSNK2A1):c.452G>T (p.Gly151Val)	CSNK2A1 (G151V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366559	NM_177559.3(CSNK2A1):c.-5C>A	CSNK2A1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3364279	NM_177559.3(CSNK2A1):c.623T>C (p.Met208Thr)	CSNK2A1 (M208T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359031	NM_177559.3(CSNK2A1):c.139C>T (p.Arg47Ter)	CSNK2A1 (R47*)	Single nucleotide variant (nonsense +1 more)	Okur-Chung neurodevelopmental syndrome	GPathogenic
Select item 3350868	NM_177559.3(CSNK2A1):c.502C>G (p.His168Asp)	CSNK2A1 (H168D +1 more)	Single nucleotide variant (missense variant)	CSNK2A1-related disorder	GUncertain significance
Select item 3340574	NM_177559.3(CSNK2A1):c.151A>C (p.Ser51Arg)	CSNK2A1 (S51R)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 3339823	NM_177559.3(CSNK2A1):c.-9C>G	CSNK2A1	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3339255	NM_177559.3(CSNK2A1):c.511-3C>T	CSNK2A1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3337871	NM_177559.3(CSNK2A1):c.-329C>T	CSNK2A1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 3336439	NM_177559.3(CSNK2A1):c.723+4AT[2]	CSNK2A1	Microsatellite (intron variant)	not specified	GUncertain significance
Select item 3269896	NM_177559.3(CSNK2A1):c.338T>C (p.Phe113Ser)	CSNK2A1 (F113S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3269895	NM_177559.3(CSNK2A1):c.1013G>A (p.Ser338Asn)	CSNK2A1 (S202N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3269894	NM_177559.3(CSNK2A1):c.13G>A (p.Val5Met)	CSNK2A1 (V5M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3257131	NM_177559.3(CSNK2A1):c.213+1537A>G	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3255564	NM_177559.3(CSNK2A1):c.580T>C (p.Ser194Pro)	CSNK2A1 (S194P +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GLikely pathogenic
Select item 3253579	NM_177559.3(CSNK2A1):c.917G>A (p.Arg306Gln)	CSNK2A1 (R170Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3251639	NM_177559.3(CSNK2A1):c.510+17A>T	CSNK2A1	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3248335	NC_000020.10:g.(?_454510)_(485873_?)dup	CSNK2A1	Duplication	not provided	GLikely benign
Select item 3242179	NM_177559.3(CSNK2A1):c.1013G>C (p.Ser338Thr)	CSNK2A1 (S202T +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 3233525	NM_177559.3(CSNK2A1):c.215C>T (p.Pro72Leu)	CSNK2A1 (P72L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3078293	NM_177559.3(CSNK2A1):c.1087C>T (p.Pro363Ser)	CSNK2A1 (P227S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3078291	NM_177559.3(CSNK2A1):c.1082C>A (p.Pro361His)	CSNK2A1 (P225H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062418	GRCh37/hg19 20p13(chr20:404407-483858)x1	CSNK2A1, RBCK1 +1 more	Copy number loss	not specified	GLikely pathogenic
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	THBD, TMC2 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TMEM74B, TMX4 +114 more	Copy number gain	not provided	GPathogenic
Select item 2684900	GRCh37/hg19 20p13(chr20:438458-1083208)x3	ANGPT4, CSNK2A1 +7 more	Copy number gain	not provided	GUncertain significance
Select item 2684899	GRCh37/hg19 20p13-12.2(chr20:61569-9542361)x3	ADAM33, ADISSP +100 more	Copy number gain	not provided	GPathogenic
Select item 2684898	GRCh37/hg19 20p13(chr20:61569-1794919)x3	ANGPT4, C20orf202 +31 more	Copy number gain	not provided	GUncertain significance
Select item 2671604	Single allele	ANGPT4, C20orf96 +19 more	Deletion	not provided	GPathogenic
Select item 2671592	Single allele	C20orf202, ZCCHC3 +35 more	Deletion	not provided	GPathogenic
Select item 2663860	NM_177559.3(CSNK2A1):c.572G>A (p.Arg191Gln)	CSNK2A1 (R191Q +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GPathogenic
Select item 2652133	NM_177559.3(CSNK2A1):c.24G>A (p.Arg8=)	CSNK2A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652132	NM_177559.3(CSNK2A1):c.213+1449T>C	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652131	NM_177559.3(CSNK2A1):c.213+1467_213+1474dup	CSNK2A1	Duplication (intron variant)	not provided	GBenign
Select item 2652130	NM_177559.3(CSNK2A1):c.213+1479C>T	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652129	NM_177559.3(CSNK2A1):c.213+1629T>C	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652128	NM_177559.3(CSNK2A1):c.5192_5195dup	CSNK2A1	Duplication (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2630977	NM_177559.3(CSNK2A1):c.990C>A (p.Asp330Glu)	CSNK2A1 (D194E +1 more)	Single nucleotide variant (missense variant)	CSNK2A1-related disorder	GUncertain significance
Select item 2630140	NM_177559.3(CSNK2A1):c.941C>G (p.Thr314Ser)	CSNK2A1 (T178S +1 more)	Single nucleotide variant (missense variant)	CSNK2A1-related disorder	GUncertain significance
Select item 2627807	NM_177559.3(CSNK2A1):c.193GTT[2] (p.Val67del)	CSNK2A1 (V67del)	Microsatellite (inframe_deletion +1 more)	Neurodevelopmental disorder	GUncertain significance
Select item 2582998	GRCh37/hg19 20p13(chr20:478365-480578)x1	CSNK2A1	Copy number loss	not provided	GLikely pathogenic
Select item 2579201	GRCh38/hg38 20p13-11.21(chr20:87153-23635465)x3	ADAM33, ADISSP +731 more	Copy number gain	Renal agenesis	GPathogenic
Select item 2578906	NM_177559.3(CSNK2A1):c.545A>G (p.Tyr182Cys)	CSNK2A1 (Y182C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2574999	NM_177559.3(CSNK2A1):c.1025dup (p.Ser343fs)	CSNK2A1 (S207fs +1 more)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2572903	NM_177559.3(CSNK2A1):c.221A>G (p.Lys74Arg)	CSNK2A1 (K74R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2572873	NM_177559.3(CSNK2A1):c.52C>T (p.His18Tyr)	CSNK2A1 (H18Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2572800	NM_177559.3(CSNK2A1):c.645G>A (p.Met215Ile)	CSNK2A1 (M215I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2506470	NM_177559.3(CSNK2A1):c.152G>A (p.Ser51Asn)	CSNK2A1 (S51N)	Single nucleotide variant (missense variant +1 more)	Okur-Chung neurodevelopmental syndrome	GLikely pathogenic
Select item 2504560	NM_177559.3(CSNK2A1):c.523G>A (p.Asp175Asn)	CSNK2A1 (D175N +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2504365	NM_177559.3(CSNK2A1):c.298A>T (p.Ile100Phe)	CSNK2A1 (I100F)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2503390	NM_177559.3(CSNK2A1):c.213+1G>T	CSNK2A1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2498874	NM_177559.3(CSNK2A1):c.52_55del (p.His18fs)	CSNK2A1 (H18fs)	Microsatellite (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 2498873	NM_177559.3(CSNK2A1):c.213+1869T>G	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2498872	NM_177559.3(CSNK2A1):c.*5299G>C	CSNK2A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2498048	NM_177559.3(CSNK2A1):c.746T>C (p.Leu249Pro)	CSNK2A1 (L113P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2494434	NM_177559.3(CSNK2A1):c.1025G>A (p.Gly342Asp)	CSNK2A1 (G342D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2443592	NM_177559.3(CSNK2A1):c.242A>C (p.Glu81Ala)	CSNK2A1 (E81A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2442654	NM_177559.3(CSNK2A1):c.102-2A>G	CSNK2A1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 2440586	NM_177559.3(CSNK2A1):c.385A>G (p.Thr129Ala)	CSNK2A1 (T129A)	Single nucleotide variant (missense variant +1 more)	Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 2440585	NM_177559.3(CSNK2A1):c.102-3C>T	CSNK2A1	Single nucleotide variant (intron variant)	Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 2440584	NM_177559.3(CSNK2A1):c.584G>A (p.Arg195Gln)	CSNK2A1 (R195Q +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 2440583	NM_177559.3(CSNK2A1):c.809A>G (p.Asn270Ser)	CSNK2A1 (N134S +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 2440582	NM_177559.3(CSNK2A1):c.955A>G (p.Met319Val)	CSNK2A1 (M183V +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 2440581	NM_177559.3(CSNK2A1):c.366+9T>C	CSNK2A1	Single nucleotide variant (intron variant)	Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 2431530	NM_177559.3(CSNK2A1):c.102-7T>A	CSNK2A1	Single nucleotide variant (intron variant)	Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 2428789	NM_177559.3(CSNK2A1):c.161T>C (p.Phe54Ser)	CSNK2A1 (F54S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2367767	NM_177559.3(CSNK2A1):c.1165G>A (p.Ala389Thr)	CSNK2A1 (A253T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 1992354	NM_177559.3(CSNK2A1):c.704G>T (p.Gly235Val)	CSNK2A1 (G99V +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GLikely pathogenic
Select item 1992315	NM_177559.3(CSNK2A1):c.151_152delinsCC (p.Ser51Pro)	CSNK2A1 (S51P)	Indel (missense variant +1 more)	Okur-Chung neurodevelopmental syndrome	GLikely pathogenic
Select item 1810665	NM_177559.3(CSNK2A1):c.718_720del (p.Asp240del)	CSNK2A1 (D104del +1 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1809495	GRCh37/hg19 20p13(chr20:404407-611731)x3	CSNK2A1, RBCK1 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1809161	GRCh37/hg19 20p13(chr20:384444-744450)x3	CSNK2A1, RBCK1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1804402	NM_177559.3(CSNK2A1):c.1172A>G (p.Gln391Arg)	CSNK2A1 (Q255R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1801973	NM_177559.3(CSNK2A1):c.61C>T (p.Arg21Ter)	CSNK2A1 (R21*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1712903	NM_177559.3(CSNK2A1):c.802C>T (p.Arg268Cys)	CSNK2A1 (R132C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709571	NM_177559.3(CSNK2A1):c.127C>T (p.Arg43Ter)	CSNK2A1 (R43*)	Single nucleotide variant (nonsense +1 more)	Okur-Chung neurodevelopmental syndrome	GPathogenic
Select item 1705027	GRCh38/hg38 20p13(chr20:453176-822262)x1	CSNK2A1, LOC121852996 +17 more	Copy number loss	Delayed speech and language development +4 more	GPathogenic
Select item 1700750	NM_177559.3(CSNK2A1):c.746T>G (p.Leu249Arg)	CSNK2A1 (L113R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1700219	NM_177559.3(CSNK2A1):c.584G>C (p.Arg195Pro)	CSNK2A1 (R195P +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GLikely pathogenic
Select item 1699512	NM_177559.3(CSNK2A1):c.890C>G (p.Ala297Gly)	CSNK2A1 (A161G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1690320	NM_177559.3(CSNK2A1):c.832C>T (p.Arg278Ter)	CSNK2A1 (R142* +1 more)	Single nucleotide variant (nonsense)	Okur-Chung neurodevelopmental syndrome	GPathogenic
Select item 1687506	NM_177559.3(CSNK2A1):c.476C>A (p.Pro159His)	CSNK2A1 (P159H +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 1687213	NM_177559.3(CSNK2A1):c.143G>A (p.Gly48Asp)	CSNK2A1 (G48D)	Single nucleotide variant (missense variant +1 more)	Okur-Chung neurodevelopmental syndrome	GLikely pathogenic
Select item 1685288	NM_177559.3(CSNK2A1):c.530G>A (p.Gly177Asp)	CSNK2A1 (G177D +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome +1 more	GLikely pathogenic
Select item 1675245	NM_177559.3(CSNK2A1):c.142G>A (p.Gly48Ser)	CSNK2A1 (G48S)	Single nucleotide variant (missense variant +1 more)	not provided	GPathogenic
Select item 1526677	GRCh37/hg19 20p13(chr20:242496-742740)	C20orf96, CSNK2A1 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1526676	GRCh37/hg19 20p13(chr20:61568-1823540)	ANGPT4, C20orf202 +31 more	Copy number loss	not specified	GPathogenic
Select item 1526675	GRCh37/hg19 20p13(chr20:61568-806878)	C20orf96, CSNK2A1 +16 more	Copy number loss	not specified	GLikely pathogenic
Select item 1474791	NC_000020.10:g.(?_389402)_(746418_?)dup	TCF15, CSNK2A1 +5 more	Duplication	not provided	GUncertain significance
Select item 1373812	NC_000020.10:g.(?_389402)_(746418_?)del	TCF15, CSNK2A1 +5 more	Deletion	Brown-Vialetto-van Laere syndrome 1	GPathogenic
Select item 1341979	GRCh37/hg19 20p13(chr20:489033-898472)x3	ANGPT4, CSNK2A1 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1335454	NM_177559.3(CSNK2A1):c.*5262G>C	CSNK2A1	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1334752	NM_177559.3(CSNK2A1):c.916C>T (p.Arg306Ter)	CSNK2A1 (R170* +1 more)	Single nucleotide variant (nonsense)	Okur-Chung neurodevelopmental syndrome +1 more	GLikely pathogenic
Select item 1329650	NM_177559.3(CSNK2A1):c.838C>T (p.Arg280Ter)	CSNK2A1 (R144* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1328596	NM_177559.3(CSNK2A1):c.935G>A (p.Arg312Gln)	CSNK2A1 (R176Q +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 1327181	NM_177559.3(CSNK2A1):c.400C>T (p.Arg134Ter)	CSNK2A1 (R134*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 1320139	NM_177559.3(CSNK2A1):c.117C>A (p.Tyr39Ter)	CSNK2A1 (Y39*)	Single nucleotide variant (nonsense +1 more)	Okur-Chung neurodevelopmental syndrome	GLikely pathogenic
Select item 1319917	NM_177559.3(CSNK2A1):c.458T>G (p.Met153Arg)	CSNK2A1 (M153R +1 more)	Single nucleotide variant (missense variant)	Okur-Chung neurodevelopmental syndrome	GUncertain significance
Select item 1310288	NM_177559.3(CSNK2A1):c.571C>T (p.Arg191Ter)	CSNK2A1 (R191* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance

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