CSNK1G3[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	ADGRV1, ALDH7A1 +682 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC129994229, LOC129994230 +688 more	Copy number loss	See cases	GPathogenic
Select item 59672	GRCh38/hg38 5q21.3-33.2(chr5:106619588-156124387)x1	ABLIM3, ACSL6 +1672 more	Copy number loss	See cases	GPathogenic
Select item 155259	GRCh38/hg38 5q21.3-23.2(chr5:108308463-125777797)x1	LOC129994389, LOC129994390 +340 more	Copy number loss	See cases	GPathogenic
Select item 150374	GRCh38/hg38 5q22.1-23.3(chr5:110687442-130103838)x1	LOC129389350, LOC129389351 +377 more	Copy number loss	See cases	GPathogenic
Select item 146237	GRCh38/hg38 5q22.1-23.2(chr5:111463016-127193038)x1	ALDH7A1, AP3S1 +317 more	Copy number loss	See cases	GPathogenic
Select item 145546	GRCh38/hg38 5q22.3-23.2(chr5:114707561-126507744)x1	AP3S1, ARL14EPL +228 more	Copy number loss	See cases	GPathogenic
Select item 59673	GRCh38/hg38 5q23.1-31.1(chr5:116677122-132686163)x1	LOC129994580, LOC129994581 +336 more	Copy number loss	See cases	GPathogenic
Select item 57490	GRCh38/hg38 5q23.1-23.2(chr5:120695675-124525372)x1	CEP120, CSNK1G3 +55 more	Copy number loss	See cases	GPathogenic
Select item 58355	GRCh38/hg38 5q23.1-23.2(chr5:120739630-126823984)x1	ALDH7A1, CEP120 +105 more	Copy number loss	See cases	GPathogenic
Select item 147446	GRCh38/hg38 5q23.2(chr5:122479268-126833168)x1	ALDH7A1, CEP120 +86 more	Copy number loss	See cases	GUncertain significance
Select item 3078289	NM_001364140.2(CSNK1G3):c.17A>G (p.Lys6Arg)	CSNK1G3 (K6R)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2620217	NM_001364140.2(CSNK1G3):c.193A>T (p.Thr65Ser)	CSNK1G3 (T65S +1 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3078290	NM_001364140.2(CSNK1G3):c.305T>C (p.Val102Ala)	CSNK1G3 (V127A +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290764	NM_001364140.2(CSNK1G3):c.335A>G (p.Asn112Ser)	CSNK1G3 (N112S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2401568	NM_001364140.2(CSNK1G3):c.398C>T (p.Thr133Ile)	CSNK1G3 (T158I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256278	NM_001364140.2(CSNK1G3):c.584C>T (p.Pro195Leu)	CSNK1G3 (P120L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343750	NM_001364140.2(CSNK1G3):c.805C>T (p.Arg269Trp)	CSNK1G3 (R294W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388492	NM_001364140.2(CSNK1G3):c.940G>A (p.Asp314Asn)	CSNK1G3 (D238N +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2208533	NM_001364140.2(CSNK1G3):c.1010C>G (p.Ala337Gly)	CSNK1G3 (A262G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338967	NM_001364140.2(CSNK1G3):c.1049C>G (p.Ala350Gly)	CSNK1G3 (A236G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3050578	NM_001364140.2(CSNK1G3):c.1179G>A (p.Ser393=)	CSNK1G3	Single nucleotide variant (synonymous variant +1 more)	CSNK1G3-related disorder	GLikely benign
Select item 3039053	NM_001364140.2(CSNK1G3):c.1186-6A>G	CSNK1G3	Single nucleotide variant (intron variant)	CSNK1G3-related disorder	GBenign
Select item 3051962	NM_001364140.2(CSNK1G3):c.1186-4A>G	CSNK1G3	Single nucleotide variant (intron variant)	CSNK1G3-related disorder	GLikely benign
Select item 2493257	NM_001364140.2(CSNK1G3):c.1186G>T (p.Val396Phe)	CSNK1G3 (V288F +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256416	NM_001364140.2(CSNK1G3):c.1196C>T (p.Ser399Phe)	CSNK1G3 (S254F +10 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048750	NM_001364140.2(CSNK1G3):c.1353C>T (p.Thr451=)	CSNK1G3	Single nucleotide variant (synonymous variant)	CSNK1G3-related disorder	GLikely benign
Select item 3062848	GRCh37/hg19 5q15-23.2(chr5:93828571-123711334)x1	AP3S1, APC +80 more	Copy number loss	not specified	GPathogenic
Select item 3062817	GRCh37/hg19 5q23.2(chr5:122826598-123301749)x3	CSNK1G3	Copy number gain	not specified	GUncertain significance
Select item 2684428	GRCh37/hg19 5q23.2(chr5:122630230-122908567)x3	CEP120, CSNK1G3	Copy number gain	not provided	GUncertain significance
Select item 1809359	GRCh37/hg19 5q22.2-23.3(chr5:112557391-128106299)x1	ALDH7A1, AP3S1 +46 more	Copy number loss	not provided	GPathogenic
Select item 1808586	GRCh37/hg19 5q23.2(chr5:122610315-122912616)x3	CEP120, CSNK1G3	Copy number gain	not provided	GUncertain significance
Select item 1527183	GRCh37/hg19 5q21.1-23.2(chr5:100607918-125900735)	CAMK4, CCDC112 +60 more	Copy number loss	not specified	GPathogenic
Select item 1340486	GRCh37/hg19 5q23.2(chr5:122948549-123506769)x3	CSNK1G3	Copy number gain	not provided	GUncertain significance
Select item 814742	GRCh37/hg19 5q23.2(chr5:122143334-123430731)x3	CEP120, CSNK1G3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 688598	GRCh37/hg19 5q14.3-23.3(chr5:89949118-129317455)x3	ADAMTS19, ADGRV1 +104 more	Copy number gain	not provided	GPathogenic
Select item 687592	GRCh37/hg19 5q23.2(chr5:122882308-122947891)x1	CSNK1G3	Copy number loss	not provided	GUncertain significance
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 457359	NC_000005.9:g.(?_86400000)_(154000000_?)del	CDC25C, CDC42SE2 +385 more	Deletion	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 443463	GRCh37/hg19 5q23.2(chr5:122778278-124492204)x3	CSNK1G3, ZNF608	Copy number gain	See cases	GUncertain significance
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441762	GRCh37/hg19 5q23.1-23.2(chr5:120032407-123896355)x1	CEP120, CSNK1G3 +9 more	Copy number loss	See cases	GUncertain significance
Select item 425542	GRCh37/hg19 5q15-35.3(chr5:94844077-178830410)x3	ARL10, ARL14EPL +511 more	Copy number gain	not provided	GLikely benign
Select item 394550	GRCh37/hg19 5q21.3-35.3(chr5:106716357-180687338)x3	HRH2, HSD17B4 +520 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 46