ClinVar for Gene (Select 130008148) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3379292	NM_000075.4(CDK4):c.126A>G (p.Gly42=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3379129	NM_000075.4(CDK4):c.218+8G>T	CDK4, LOC130008148	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GLikely benign
Select item 3379073	NM_000075.4(CDK4):c.147T>G (p.Leu49=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378732	NM_000075.4(CDK4):c.207C>T (p.Pro69=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378569	NM_000075.4(CDK4):c.186A>C (p.Arg62=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378473	NM_000075.4(CDK4):c.159A>G (p.Thr53=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378439	NM_000075.4(CDK4):c.171G>A (p.Val57=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3378433	NM_000075.4(CDK4):c.135T>C (p.Gly45=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GBenign
Select item 3265474	NM_000075.4(CDK4):c.181A>G (p.Arg61Gly)	CDK4, LOC130008148 (R61G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3256369	NM_000075.4(CDK4):c.218+35A>T	CDK4, LOC130008148	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3230229	NM_000075.4(CDK4):c.218+2T>C	CDK4, LOC130008148	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230226	NM_000075.4(CDK4):c.125G>T (p.Gly42Val)	CDK4, LOC130008148 (G42V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3014342	NM_000075.4(CDK4):c.197T>C (p.Phe66Ser)	CDK4, LOC130008148 (F66S)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2892819	NM_000075.4(CDK4):c.218+12G>A	CDK4, LOC130008148	Single nucleotide variant (intron variant)	Familial melanoma	GUncertain significance
Select item 2856119	NM_000075.4(CDK4):c.185G>C (p.Arg62Pro)	CDK4, LOC130008148 (R62P)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2851953	NM_000075.4(CDK4):c.128G>C (p.Gly43Ala)	CDK4, LOC130008148 (G43A)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2824684	NM_000075.4(CDK4):c.191A>G (p.Glu64Gly)	CDK4, LOC130008148 (E64G)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2821513	NM_000075.4(CDK4):c.208A>C (p.Asn70His)	CDK4, LOC130008148 (N70H)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2819617	NM_000075.4(CDK4):c.218+9G>A	CDK4, LOC130008148	Single nucleotide variant (intron variant)	Melanoma, cutaneous malignant, susceptibility to, 3 +1 more	GLikely benign
Select item 2815868	NM_000075.4(CDK4):c.122_133del (p.Asn41_Gly45delinsSer)	CDK4, LOC130008148	Deletion (inframe_indel)	Familial melanoma	GUncertain significance
Select item 2787442	NM_000075.4(CDK4):c.218+20T>C	CDK4, LOC130008148	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 2729029	NM_000075.4(CDK4):c.145C>G (p.Leu49Val)	CDK4, LOC130008148 (L49V)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2710534	NM_000075.4(CDK4):c.177A>G (p.Leu59=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 3 +2 more	GBenign/Likely benign
Select item 2699649	NM_000075.4(CDK4):c.182G>A (p.Arg61Lys)	CDK4, LOC130008148 (R61K)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2586839	NM_000075.4(CDK4):c.123T>C (p.Asn41=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 3 +1 more	GBenign/Likely benign
Select item 2171211	NM_000075.4(CDK4):c.218+15G>A	CDK4, LOC130008148	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 2115767	NM_000075.4(CDK4):c.154A>G (p.Ser52Gly)	CDK4, LOC130008148 (S52G)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2114053	NM_000075.4(CDK4):c.160G>C (p.Val54Leu)	CDK4, LOC130008148 (V54L)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2078585	NM_000075.4(CDK4):c.149C>T (p.Pro50Leu)	CDK4, LOC130008148 (P50L)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2059420	NM_000075.4(CDK4):c.215T>C (p.Val72Ala)	CDK4, LOC130008148 (V72A)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2037528	NM_000075.4(CDK4):c.201G>A (p.Glu67=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Familial melanoma	GLikely benign
Select item 2005551	NM_000075.4(CDK4):c.162T>A (p.Val54=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Familial melanoma	GUncertain significance
Select item 1941082	NM_000075.4(CDK4):c.218+14G>C	CDK4, LOC130008148	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 1787257	NM_000075.4(CDK4):c.218+1G>A	CDK4, LOC130008148	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1787238	NM_000075.4(CDK4):c.217C>G (p.Arg73Gly)	CDK4, LOC130008148 (R73G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1786570	NM_000075.4(CDK4):c.213T>C (p.Val71=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1783195	NM_000075.4(CDK4):c.194C>T (p.Ala65Val)	CDK4, LOC130008148 (A65V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1772896	NM_000075.4(CDK4):c.144C>T (p.Gly48=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Familial melanoma +2 more	GBenign/Likely benign
Select item 1772884	NM_000075.4(CDK4):c.144C>A (p.Gly48=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
Select item 1767614	NM_000075.4(CDK4):c.127G>A (p.Gly43Arg)	CDK4, LOC130008148 (G43R)	Single nucleotide variant (missense variant)	Familial melanoma +1 more	GUncertain significance
Select item 1764938	NM_000075.4(CDK4):c.126A>C (p.Gly42=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Familial melanoma +2 more	GBenign/Likely benign
Select item 1593926	NM_000075.4(CDK4):c.218+14G>A	CDK4, LOC130008148	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 1573211	NM_000075.4(CDK4):c.218+16A>G	CDK4, LOC130008148	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 1547055	NM_000075.4(CDK4):c.218+18G>A	CDK4, LOC130008148	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 1519177	NM_000075.4(CDK4):c.130G>C (p.Gly44Arg)	CDK4, LOC130008148 (G44R)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 1510787	NM_000075.4(CDK4):c.134G>A (p.Gly45Asp)	CDK4, LOC130008148 (G45D)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 1501643	NM_000075.4(CDK4):c.135_143dup (p.Gly46_Gly48dup)	CDK4, LOC130008148	Duplication (inframe_insertion)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1498389	NM_000075.4(CDK4):c.172_186del (p.Ala58_Arg62del)	CDK4, LOC130008148	Deletion (inframe_deletion)	Familial melanoma	GUncertain significance
Select item 1472879	NM_000075.4(CDK4):c.131G>A (p.Gly44Glu)	CDK4, LOC130008148 (G44E)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 1471907	NM_000075.4(CDK4):c.205C>A (p.Pro69Thr)	CDK4, LOC130008148 (P69T)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 1427826	NM_000075.4(CDK4):c.119C>A (p.Pro40His)	CDK4, LOC130008148 (P40H)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 1410660	NM_000075.4(CDK4):c.190G>A (p.Glu64Lys)	CDK4, LOC130008148 (E64K)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 1391530	NM_000075.4(CDK4):c.200A>G (p.Glu67Gly)	LOC130008148, CDK4 (E67G)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 1385150	NM_000075.4(CDK4):c.136G>A (p.Gly46Arg)	CDK4, LOC130008148 (G46R)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 1358451	NM_000075.4(CDK4):c.164G>A (p.Arg55His)	CDK4, LOC130008148 (R55H)	Single nucleotide variant (missense variant)	Familial melanoma +1 more	GUncertain significance
Select item 1350737	NM_000075.4(CDK4):c.218+6_218+8del	CDK4, LOC130008148	Deletion (intron variant)	Familial melanoma	GUncertain significance
Select item 1311713	NM_000075.4(CDK4):c.167A>C (p.Glu56Ala)	CDK4, LOC130008148 (E56A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1153325	NM_000075.4(CDK4):c.120C>T (p.Pro40=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Familial melanoma +1 more	GLikely benign
Select item 1133306	NM_000075.4(CDK4):c.138A>G (p.Gly46=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Familial melanoma	GLikely benign
Select item 1124902	NM_000075.4(CDK4):c.189G>A (p.Leu63=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 1104135	NM_000075.4(CDK4):c.216C>A (p.Val72=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 3 +1 more	GBenign/Likely benign
Select item 1059884	NM_000075.4(CDK4):c.200A>T (p.Glu67Val)	CDK4, LOC130008148 (E67V)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 1040537	NM_000075.4(CDK4):c.218+6_218+7delinsGT	CDK4, LOC130008148	Indel (intron variant)	Familial melanoma	GUncertain significance
Select item 1019892	NM_000075.4(CDK4):c.172G>A (p.Ala58Thr)	CDK4, LOC130008148 (A58T)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 1006626	NM_000075.4(CDK4):c.218+3G>A	CDK4, LOC130008148	Single nucleotide variant (intron variant)	Familial melanoma	GUncertain significance
Select item 928861	NM_000075.4(CDK4):c.156C>G (p.Ser52Arg)	CDK4, LOC130008148 (S52R)	Single nucleotide variant (missense variant)	Familial melanoma +1 more	GUncertain significance
Select item 854591	NM_000075.4(CDK4):c.119C>T (p.Pro40Leu)	CDK4, LOC130008148 (P40L)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 847993	NM_000075.4(CDK4):c.128G>A (p.Gly43Glu)	CDK4, LOC130008148 (G43E)	Single nucleotide variant (missense variant)	Familial melanoma +1 more	GConflicting classifications of pathogenicity
Select item 844832	NM_000075.4(CDK4):c.132_143dup (p.Gly45_Gly48dup)	CDK4, LOC130008148	Duplication (inframe_insertion)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 835855	NM_000075.4(CDK4):c.218G>A (p.Arg73Gln)	CDK4, LOC130008148 (R73Q)	Single nucleotide variant (missense variant)	Familial melanoma +1 more	GUncertain significance
Select item 820468	NM_000075.4(CDK4):c.198del (p.Phe66fs)	CDK4, LOC130008148 (F66fs)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 820373	NM_000075.4(CDK4):c.193G>A (p.Ala65Thr)	CDK4, LOC130008148 (A65T)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 820176	NM_000075.4(CDK4):c.184C>T (p.Arg62Ter)	CDK4, LOC130008148 (R62*)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 819738	NM_000075.4(CDK4):c.165T>G (p.Arg55=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GBenign/Likely benign
Select item 818929	NM_000075.4(CDK4):c.135_143del (p.Gly46_Gly48del)	CDK4, LOC130008148	Deletion (inframe_deletion)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 796721	NM_000075.4(CDK4):c.150C>T (p.Pro50=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Familial melanoma	GLikely benign
Select item 793110	NM_000075.4(CDK4):c.195T>C (p.Ala65=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 3 +2 more	GBenign/Likely benign
Select item 792208	NM_000075.4(CDK4):c.210T>C (p.Asn70=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 3 +2 more	GBenign/Likely benign
Select item 761928	NM_000075.4(CDK4):c.178C>T (p.Leu60=)	LOC130008148, CDK4	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 3 +1 more	GBenign/Likely benign
Select item 721932	NM_000075.4(CDK4):c.198T>C (p.Phe66=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 3 +1 more	GBenign/Likely benign
Select item 657087	NM_000075.4(CDK4):c.185G>A (p.Arg62Gln)	CDK4, LOC130008148 (R62Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 649745	NM_000075.4(CDK4):c.217C>T (p.Arg73Trp)	LOC130008148, CDK4 (R73W)	Single nucleotide variant (missense variant)	Familial melanoma +2 more	GUncertain significance
Select item 649162	NM_000075.4(CDK4):c.209A>G (p.Asn70Ser)	LOC130008148, CDK4 (N70S)	Single nucleotide variant (missense variant)	Familial melanoma +1 more	GUncertain significance
Select item 645846	NM_000075.4(CDK4):c.142G>A (p.Gly48Ser)	CDK4, LOC130008148 (G48S)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 645122	NM_000075.4(CDK4):c.127G>C (p.Gly43Arg)	CDK4, LOC130008148 (G43R)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 584828	NM_000075.4(CDK4):c.133G>C (p.Gly45Arg)	CDK4, LOC130008148 (G45R)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 584827	NM_000075.4(CDK4):c.155G>T (p.Ser52Ile)	CDK4, LOC130008148 (S52I)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 3	GUncertain significance
Select item 584024	NC_000012.11:g.(?_58144433)_(58145506_?)dup	CDK4, LOC130008148	Duplication	Familial melanoma	GUncertain significance
Select item 583824	NC_000012.11:g.(?_58142298)_(58145510_?)dup	CDK4, LOC130008148 +2 more	Duplication	Familial melanoma	GUncertain significance
Select item 583424	NC_000012.11:g.(?_58144429)_(58145510_?)dup	CDK4, LOC130008148	Duplication	Familial melanoma	GUncertain significance
Select item 580555	NM_000075.4(CDK4):c.160G>A (p.Val54Ile)	CDK4, LOC130008148 (V54I)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 485494	NM_000075.4(CDK4):c.180G>A (p.Leu60=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 485492	NM_000075.4(CDK4):c.163C>G (p.Arg55Gly)	CDK4, LOC130008148 (R55G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 483310	NM_000075.4(CDK4):c.168G>A (p.Glu56=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 483301	NM_000075.4(CDK4):c.153C>T (p.Ile51=)	LOC130008148, CDK4	Single nucleotide variant (synonymous variant)	Familial melanoma +2 more	GBenign/Likely benign
Select item 483300	NM_000075.4(CDK4):c.138AGG[1] (p.Gly48del)	CDK4, LOC130008148 (G48del)	Microsatellite (inframe_deletion)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 483299	NM_000075.4(CDK4):c.163C>T (p.Arg55Cys)	CDK4, LOC130008148 (R55C)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 483292	NM_000075.4(CDK4):c.183G>A (p.Arg61=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Familial melanoma +2 more	GBenign/Likely benign
Select item 463464	NM_000075.4(CDK4):c.211G>A (p.Val71Ile)	CDK4, LOC130008148 (V71I)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 463462	NM_000075.4(CDK4):c.169G>T (p.Val57Leu)	CDK4, LOC130008148 (V57L)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance

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