CSNK1E[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 144164	GRCh38/hg38 22q11.1-13.33(chr22:16916608-50739836)x3	IL17RA, LINC01640 +2088 more	Copy number gain	See cases	GPathogenic
Select item 145336	GRCh38/hg38 22q11.1-13.33(chr22:16916743-50739785)x3	LOC130067403, LOC130067404 +2088 more	Copy number gain	See cases	GPathogenic
Select item 57629	GRCh38/hg38 22q12.3-13.1(chr22:35333993-38900177)x1	ANKRD54, APOL1 +293 more	Copy number loss	See cases	GPathogenic
Select item 57942	GRCh38/hg38 22q12.3-13.33(chr22:37061769-50738932)x3	LOC130067651, LOC130067652 +1004 more	Copy number gain	See cases	GPathogenic
Select item 153362	GRCh38/hg38 22q13.1(chr22:37447222-39103680)x1	ANKRD54, APOBEC3A +177 more	Copy number loss	See cases	GPathogenic
Select item 57632	GRCh38/hg38 22q13.1(chr22:37721777-38886664)x1	ANKRD54, BAIAP2L2 +122 more	Copy number loss	See cases	GPathogenic
Select item 57943	GRCh38/hg38 22q13.1-13.2(chr22:37721797-40860953)x3	LOC130067459, LOC130067460 +273 more	Copy number gain	See cases	GPathogenic
Select item 3078275	NM_152221.3(CSNK1E):c.1186C>T (p.Arg396Trp)	CSNK1E, TPTEP2-CSNK1E (R396W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078274	NM_152221.3(CSNK1E):c.1169C>T (p.Ser390Phe)	CSNK1E, TPTEP2-CSNK1E (S390F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2231341	NM_152221.3(CSNK1E):c.1151C>T (p.Ala384Val)	CSNK1E, TPTEP2-CSNK1E (A384V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724802	NM_152221.3(CSNK1E):c.1079-8C>A	CSNK1E, TPTEP2-CSNK1E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2377384	NM_152221.3(CSNK1E):c.1073C>T (p.Pro358Leu)	CSNK1E, TPTEP2-CSNK1E (P358L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2328246	NM_152221.3(CSNK1E):c.1052C>T (p.Thr351Met)	CSNK1E, TPTEP2-CSNK1E (T351M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2588640	NM_152221.3(CSNK1E):c.1027A>G (p.Ser343Gly)	CSNK1E, TPTEP2-CSNK1E (S343G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269883	NM_152221.3(CSNK1E):c.1012G>A (p.Ala338Thr)	CSNK1E, TPTEP2-CSNK1E (A338T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213495	NM_152221.3(CSNK1E):c.977G>A (p.Arg326Gln)	CSNK1E, TPTEP2-CSNK1E (R326Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2594796	NM_152221.3(CSNK1E):c.962G>A (p.Arg321Gln)	CSNK1E, TPTEP2-CSNK1E (R321Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482498	NM_152221.3(CSNK1E):c.914A>G (p.Asp305Gly)	CSNK1E, TPTEP2-CSNK1E (D305G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 590290	NM_152221.3(CSNK1E):c.885+1G>A	LOC126863148, TPTEP2-CSNK1E +1 more	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 1	GPathogenic
Select item 2570671	NM_152221.3(CSNK1E):c.532C>T (p.Arg178Cys)	CSNK1E, TPTEP2-CSNK1E (R178C)	Single nucleotide variant (missense variant)	Seizure +11 more	GUncertain significance
Select item 789683	NM_152221.3(CSNK1E):c.393C>T (p.Pro131=)	CSNK1E, TPTEP2-CSNK1E	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 724803	NM_152221.3(CSNK1E):c.336+10C>T	CSNK1E, TPTEP2-CSNK1E	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 929456	NM_152221.3(CSNK1E):c.287G>T (p.Cys96Phe)	CSNK1E, TPTEP2-CSNK1E (C96F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2653138	NM_152221.3(CSNK1E):c.37C>T (p.Arg13Trp)	CSNK1E, TPTEP2-CSNK1E (R13W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2424101	NC_000022.10:g.(?_37154355)_(39148633_?)del	ANKRD54, BAIAP2L2 +50 more	Deletion	Infantile neuroaxonal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2423540	NC_000022.10:g.(?_38097373)_(39306081_?)del	ANKRD54, BAIAP2L2 +29 more	Deletion	not provided	GPathogenic
Select item 2422150	NC_000022.10:g.(?_35776672)_(42486826_?)dup	ACO2, ADSL +132 more	Duplication	Adenylosuccinate lyase deficiency	GUncertain significance
Select item 983188	GRCh37/hg19 22q11.1-13.33(chr22:16197005-51224252)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic
Select item 816564	GRCh37/hg19 22q13.1(chr22:38002218-38973070)x1	SH3BP1, CSNK1E +25 more	Copy number loss	not provided	GPathogenic
Select item 816479	GRCh37/hg19 22q13.1(chr22:38431917-39392250)x1	NPTXR, FAM227A +20 more	Copy number loss	See cases	GLikely pathogenic
Select item 816216	GRCh37/hg19 22q12.2-13.33(chr22:30654764-51197838)x3	CERK, CHADL +271 more	Copy number gain	not provided	GPathogenic
Select item 685636	GRCh37/hg19 22q11.1-13.33(chr22:16888899-51197838)x3	TUBA8, TUBGCP6 +435 more	Copy number gain	not provided	GPathogenic
Select item 443342	GRCh37/hg19 22q12.3-13.1(chr22:35674826-39466442)x3	ANKRD54, APOBEC3A +76 more	Copy number gain	See cases	GLikely pathogenic
Select item 442777	GRCh37/hg19 22q13.1(chr22:37866631-39054815)x1	ANKRD54, BAIAP2L2 +31 more	Copy number loss	See cases	GPathogenic
Select item 441654	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)	ANKRD54, AP1B1 +435 more	Copy number gain	See cases	GPathogenic
Select item 441653	GRCh37/hg19 22q11.1-13.33(chr22:16888900-51197838)x3	NEFH, NF2 +435 more	Copy number gain	See cases	GPathogenic
Select item 395465	GRCh37/hg19 22q13.1(chr22:38322968-38965458)	BAIAP2L2, C22orf23 +13 more	Copy number gain	See cases	GLikely pathogenic
Select item 395140	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237463)x3	ZNF280A, ZNF280B +438 more	Copy number gain	See cases	GPathogenic
Select item 394709	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51220902)x3	SMARCB1, SMC1B +438 more	Copy number gain	See cases	GPathogenic
Select item 253617	GRCh37/hg19 22q12.3-13.33(chr22:35728929-51220961)x3	A4GALT, ACO2 +223 more	Copy number gain	See cases	GPathogenic
Select item 253509	GRCh37/hg19 22q11.1-13.33(chr22:16054691-51237518)x3	A4GALT, ACO2 +438 more	Copy number gain	See cases	GPathogenic

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Items: 41