CSNK1G3[gene] - ClinVar

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Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151143	GRCh38/hg38 5q14.3-23.3(chr5:90374606-128076423)x1	LOC129994523, LOC129994524 +683 more	Copy number loss	See cases	GPathogenic
Select item 155679	GRCh38/hg38 5q14.3-31.1(chr5:91411708-131319563)x1	LOC126807500, LOC126807501 +689 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 3269890	NM_001364140.2(CSNK1G3):c.134T>C (p.Val45Ala)	CSNK1G3 (V45A)	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 3269889	NM_001364140.2(CSNK1G3):c.446G>A (p.Arg149His)	CSNK1G3 (R174H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3269891	NM_001364140.2(CSNK1G3):c.582T>A (p.Asp194Glu)	CSNK1G3 (D194E +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 3269892	NM_001364140.2(CSNK1G3):c.907G>C (p.Asp303His)	CSNK1G3 (D190H +6 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	HARS1, HARS2 +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

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Items: 50