1777[HGNC] - ClinVar

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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

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Items: 57