1021[geneid] - ClinVar

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

Search results

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 155204	GRCh38/hg38 7q21.11-21.3(chr7:84002634-95228883)x1	LOC129998788, LOC129998789 +227 more	Copy number loss	See cases	GPathogenic
Select item 1321244	NM_001145306.2(CDK6):c.*5310T>C	CDK6	Single nucleotide variant (3 prime UTR variant)	Behcet disease	Gassociation
Select item 1274922	NM_001145306.2(CDK6):c.*32G>A	CDK6	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 210641	NM_001145306.2(CDK6):c.949A>T (p.Ser317Cys)	CDK6 (S317C)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 712661	NM_001145306.2(CDK6):c.945G>A (p.Pro315=)	CDK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3265503	NM_001145306.2(CDK6):c.910G>C (p.Glu304Gln)	CDK6 (E304Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 434657	NM_001145306.2(CDK6):c.894A>G (p.Pro298=)	CDK6	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 434658	NM_001145306.2(CDK6):c.846A>G (p.Thr282=)	CDK6	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 1252462	NM_001145306.2(CDK6):c.835-35_835-31del	CDK6	Microsatellite (intron variant)	not provided	GBenign
Select item 1232569	NM_001145306.2(CDK6):c.834+274G>A	CDK6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233941	NM_001145306.2(CDK6):c.834+53T>C	CDK6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 434659	NM_001145306.2(CDK6):c.775G>A (p.Ala259Thr)	CDK6 (A259T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 750981	NM_001145306.2(CDK6):c.714A>C (p.Pro238=)	CDK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2407985	NM_001145306.2(CDK6):c.700G>A (p.Val234Met)	CDK6 (V234M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1226582	NM_001145306.2(CDK6):c.699-18T>C	CDK6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250250	NM_001145306.2(CDK6):c.698+147G>C	CDK6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2537802	NM_001145306.2(CDK6):c.697G>A (p.Asp233Asn)	CDK6 (D233N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536616	NM_001145306.2(CDK6):c.659G>A (p.Arg220His)	CDK6 (R220H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 739663	NM_001145306.2(CDK6):c.651T>C (p.Pro217=)	CDK6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1321243	NM_001145306.2(CDK6):c.647+21377A>G	CDK6	Single nucleotide variant (intron variant)	Behcet disease	Gassociation
Select item 1242376	NM_001145306.2(CDK6):c.647+153C>T	CDK6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 741353	NM_001145306.2(CDK6):c.597C>T (p.Pro199=)	CDK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 157508	NM_001145306.2(CDK6):c.589G>A (p.Ala197Thr)	CDK6 (A197T)	Single nucleotide variant (missense variant)	Microcephaly 12, primary, autosomal recessive	GPathogenic
Select item 717291	NM_001145306.2(CDK6):c.588C>T (p.Tyr196=)	CDK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 728797	NM_001145306.2(CDK6):c.564C>G (p.Pro188=)	CDK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 719802	NM_001145306.2(CDK6):c.546G>A (p.Thr182=)	CDK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1291635	NM_001145306.2(CDK6):c.538-14G>A	CDK6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248056	NM_001145306.2(CDK6):c.538-191G>A	CDK6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272918	NM_001145306.2(CDK6):c.537+257A>T	CDK6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2479703	NM_001145306.2(CDK6):c.535G>T (p.Val179Leu)	CDK6 (V179L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141603	NM_001145306.2(CDK6):c.493G>A (p.Gly165Ser)	CDK6 (G165S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532596	NM_001145306.2(CDK6):c.484G>A (p.Ala162Thr)	CDK6 (A162T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769332	NM_001145306.2(CDK6):c.444A>T (p.Pro148=)	CDK6	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3141602	NM_001145306.2(CDK6):c.395G>C (p.Gly132Ala)	CDK6 (G132A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1270236	NM_001145306.2(CDK6):c.370-118G>A	CDK6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 153321	GRCh38/hg38 7q21.2-21.3(chr7:92759144-97568646)x1	LOC110121296, LOC111365161 +110 more	Copy number loss	See cases	GPathogenic
Select item 1265998	NM_001145306.2(CDK6):c.369+151G>A	CDK6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 434660	NM_001145306.2(CDK6):c.328G>A (p.Asp110Asn)	CDK6 (D110N)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 723240	NM_001145306.2(CDK6):c.294T>C (p.Phe98=)	CDK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3265502	NM_001145306.2(CDK6):c.273A>T (p.Glu91Asp)	CDK6 (E91D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 740010	NM_001145306.2(CDK6):c.233+8A>T	CDK6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3141600	NM_001145306.2(CDK6):c.160A>G (p.Met54Val)	CDK6 (M54V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 712006	NM_001145306.2(CDK6):c.66C>T (p.Gly22=)	CDK6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3141601	NM_001145306.2(CDK6):c.25G>C (p.Ala9Pro)	CDK6 (A9P)	Single nucleotide variant (missense variant)	not specified	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 1527377	GRCh37/hg19 7q21.2-21.3(chr7:92044792-93320149)	CALCR, CDK6 +10 more	Copy number loss	not specified	GUncertain significance
Select item 1527369	GRCh37/hg19 7q21.11-21.3(chr7:77821356-93340137)	ABCB1, ABCB4 +50 more	Copy number gain	not specified	GPathogenic
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 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 545583	GRCh37/hg19 7q21.2-22.1(chr7:92445452-99686985)x1	CYP3A4, TAC1 +65 more	Copy number loss	Split hand-foot malformation 1	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +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

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: 57