"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "CSNK2A1"[g - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1335454	NM_177559.3(CSNK2A1):c.*5262G>C	CSNK2A1	Single nucleotide variant (3 prime UTR variant +1 more)	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 1264567	NM_177559.3(CSNK2A1):c.*1C>T	CSNK2A1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign/Likely benign
Select item 1277616	NM_177559.3(CSNK2A1):c.1061-9T>C	CSNK2A1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 809211	NM_177559.3(CSNK2A1):c.1036G>A (p.Val346Ile)	CSNK2A1 (V346I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 708253	NM_177559.3(CSNK2A1):c.858C>T (p.His286=)	CSNK2A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1298864	NM_177559.3(CSNK2A1):c.753A>G (p.Thr251=)	CSNK2A1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1012468	NM_177559.3(CSNK2A1):c.723+1G>C	CSNK2A1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 713025	NM_177559.3(CSNK2A1):c.369A>G (p.Gln123=)	CSNK2A1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 871368	NM_177559.3(CSNK2A1):c.327dup (p.Ala110fs)	CSNK2A1 (A110fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 372946	NM_177559.3(CSNK2A1):c.239G>A (p.Arg80His)	CSNK2A1 (R80H)	Single nucleotide variant (missense variant +1 more)	Okur-Chung neurodevelopmental syndrome +1 more	GConflicting classifications of pathogenicity
Select item 2498873	NM_177559.3(CSNK2A1):c.213+1869T>G	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2652129	NM_177559.3(CSNK2A1):c.213+1629T>C	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2652130	NM_177559.3(CSNK2A1):c.213+1479C>T	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 2652132	NM_177559.3(CSNK2A1):c.213+1449T>C	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191810	NM_177559.3(CSNK2A1):c.213+45T>C	CSNK2A1	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 725328	NM_177559.3(CSNK2A1):c.132A>G (p.Lys44=)	CSNK2A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign/Likely benign
Select item 1012469	NM_177559.3(CSNK2A1):c.71G>A (p.Trp24Ter)	CSNK2A1 (W24*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
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 2652133	NM_177559.3(CSNK2A1):c.24G>A (p.Arg8=)	CSNK2A1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3024619	GRCh37/hg19 20p13-11.21(chr20:68351-23860313)x3	SLC24A3, SLC4A11 +164 more	Copy number gain	not provided	GPathogenic
Select item 3024618	GRCh37/hg19 20p13-12.1(chr20:68351-16142323)x3	TRIB3, TRMT6 +114 more	Copy number gain	not provided	GPathogenic
Select item 2582998	GRCh37/hg19 20p13(chr20:478365-480578)x1	CSNK2A1	Copy number loss	not provided	GLikely pathogenic

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Items: 26