CDK14[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	ABCB1, ABCB4 +227 more	Copy number loss	See cases	GPathogenic
Select item 151098	GRCh38/hg38 7q21.12-21.2(chr7:87379476-91731873)x1	PTTG1IP2, RUNDC3B +78 more	Copy number loss	See cases	GLikely pathogenic
Select item 148157	GRCh38/hg38 7q21.13(chr7:89880753-90888838)x3	CDK14, CFAP69 +30 more	Copy number gain	See cases	GUncertain significance
Select item 153765	GRCh38/hg38 7q21.13(chr7:89886335-90747262)x3	PTTG1IP2, STEAP1 +28 more	Copy number gain	See cases	GUncertain significance
Select item 151568	GRCh38/hg38 7q21.13(chr7:90425353-90598188)x3	CDK14, LOC123956176 +7 more	Copy number gain	See cases	GLikely benign
Select item 58897	GRCh38/hg38 7q21.13(chr7:90671853-90863294)x1	CDK14, LOC129998778 +4 more	Copy number loss	See cases	GUncertain significance
Select item 2318148	NM_001287135.2(CDK14):c.140T>C (p.Met47Thr)	CDK14 (M1T +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2605320	NM_001287135.2(CDK14):c.172G>A (p.Val58Met)	CDK14 (V12M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 722842	NM_001287135.2(CDK14):c.183C>T (p.Pro61=)	CDK14	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2482788	NM_001287135.2(CDK14):c.235A>G (p.Thr79Ala)	CDK14 (T33A +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2395440	NM_001287135.2(CDK14):c.304A>G (p.Asn102Asp)	CDK14 (N56D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2224421	NM_001287135.2(CDK14):c.359G>A (p.Ser120Asn)	CDK14 (S102N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489113	NM_001287135.2(CDK14):c.386T>G (p.Phe129Cys)	CDK14 (F83C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2297507	NM_001287135.2(CDK14):c.433T>A (p.Ser145Thr)	CDK14 (S127T +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 150927	GRCh38/hg38 7q21.13(chr7:90759285-90939487)x1	CDK14, LOC129998782	Copy number loss	See cases	GLikely benign
Select item 2246113	NM_001287135.2(CDK14):c.800C>T (p.Thr267Met)	CDK14 (T249M +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537873	NM_001287135.2(CDK14):c.1004T>C (p.Met335Thr)	CDK14 (M317T +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2478033	NM_001287135.2(CDK14):c.1005G>A (p.Met335Ile)	CDK14 (M206I +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361390	NM_001287135.2(CDK14):c.1108C>A (p.Arg370Ser)	CDK14 (R370S +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607687	NM_001287135.2(CDK14):c.1123A>G (p.Ser375Gly)	CDK14 (S246G +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599900	NM_001287135.2(CDK14):c.1141C>G (p.Gln381Glu)	CDK14 (Q252E +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2513011	NM_001287135.2(CDK14):c.1163A>G (p.Tyr388Cys)	CDK14 (Y259C +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 720372	NM_001287135.2(CDK14):c.1179G>A (p.Glu393=)	CDK14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2355931	NM_001287135.2(CDK14):c.1354C>T (p.Arg452Trp)	CDK14 (R406W +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231208	NM_001287135.2(CDK14):c.1400G>A (p.Ser467Asn)	CDK14 (S467N +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2684494	GRCh37/hg19 7q21.13(chr7:88851863-90433435)x3	CDK14, CFAP69 +5 more	Copy number gain	not provided	GUncertain significance
Select item 1808626	GRCh37/hg19 7q21.13(chr7:90409326-90570411)x1	CDK14	Copy number loss	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
Select item 1340777	GRCh37/hg19 7q21.13(chr7:90350418-90405386)x1	CDK14	Copy number loss	not provided	GLikely benign
Select item 1047880	GRCh37/hg19 7q21.12-22.1(chr7:87477185-100333327)	ATP5MF-PTCD1, AZGP1 +127 more	Copy number gain	Isolated Pierre-Robin syndrome +1 more	GPathogenic
Select item 815008	GRCh37/hg19 7q21.13(chr7:90128713-90625015)x1	CDK14	Copy number loss	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563274	GRCh37/hg19 7q21.13(chr7:90729485-90786957)x1	CDK14	Copy number loss	not provided	GUncertain significance
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 523285	GRCh37/hg19 7q21.13-21.2(chr7:90054667-91313448)	CDK14, FZD1	Copy number loss	Autism +4 more	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic
Select item 221462	GRCh37/hg19 7q21.12-21.2(chr7:87840219-91707100)x3	STEAP4, TEX47 +11 more	Copy number gain	Breast ductal adenocarcinoma	GUncertain significance

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Items: 43