ClinVar for Gene (Select 1019) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3265478	NM_000075.4(CDK4):c.652T>C (p.Ser218Pro)	CDK4, TSPAN31 (S218P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3265477	NM_000075.4(CDK4):c.595A>G (p.Ser199Gly)	CDK4 (S199G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3265476	NM_000075.4(CDK4):c.414C>T (p.His138=)	CDK4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3265475	NM_000075.4(CDK4):c.36T>A (p.Ile12=)	CDK4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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 3265473	NM_000075.4(CDK4):c.489A>G (p.Arg163=)	CDK4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3265472	NM_000075.4(CDK4):c.636T>A (p.Pro212=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3265470	NM_000075.4(CDK4):c.633-3T>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3265469	NM_000075.4(CDK4):c.69C>T (p.Ala23=)	CDK4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3265468	NM_000075.4(CDK4):c.229G>T (p.Val77Phe)	CDK4 (V77F)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3265467	NM_000075.4(CDK4):c.869del (p.Leu290fs)	CDK4, TSPAN31 (L290fs)	Deletion (frameshift variant +1 more)	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 3256203	NM_000075.4(CDK4):c.819+50_819+53del	CDK4, TSPAN31	Microsatellite (intron variant +1 more)	not specified	GLikely benign
Select item 3244287	NC_000012.11:g.(?_58142945)_(58145500_?)dup	CDK4	Duplication	Familial melanoma	GUncertain significance
Select item 3244286	NC_000012.11:g.(?_58142308)_(58142410_?)del	CDK4	Deletion	Familial melanoma	GUncertain significance
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 3233673	NM_000075.4(CDK4):c.633-5C>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3230250	NM_000075.4(CDK4):c.90C>G (p.His30Gln)	CDK4 (H30Q)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230249	NM_000075.4(CDK4):c.868C>G (p.Leu290Val)	CDK4, TSPAN31 (L290V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230248	NM_000075.4(CDK4):c.814C>T (p.Leu272=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230247	NM_000075.4(CDK4):c.7A>G (p.Thr3Ala)	CDK4 (T3A)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230246	NM_000075.4(CDK4):c.784C>A (p.Pro262Thr)	CDK4, TSPAN31 (P262T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230245	NM_000075.4(CDK4):c.77C>A (p.Pro26His)	CDK4 (P26H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230244	NM_000075.4(CDK4):c.779T>C (p.Val260Ala)	CDK4, TSPAN31 (V260A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230243	NM_000075.4(CDK4):c.766C>A (p.Pro256Thr)	CDK4, TSPAN31 (P256T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230242	NM_000075.4(CDK4):c.676del (p.Ile226fs)	CDK4, TSPAN31 (I226fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230241	NM_000075.4(CDK4):c.621G>A (p.Met207Ile)	CDK4 (M207I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230240	NM_000075.4(CDK4):c.617A>G (p.Glu206Gly)	CDK4 (E206G)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230239	NM_000075.4(CDK4):c.589A>G (p.Met197Val)	CDK4 (M197V)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230238	NM_000075.4(CDK4):c.570A>G (p.Thr190=)	CDK4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230237	NM_000075.4(CDK4):c.480C>T (p.Gly160=)	CDK4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230236	NM_000075.4(CDK4):c.460G>A (p.Val154Ile)	CDK4 (V154I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230235	NM_000075.4(CDK4):c.439C>A (p.Leu147Met)	CDK4 (L147M)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230234	NM_000075.4(CDK4):c.363G>C (p.Met121Ile)	CDK4 (M121I)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230233	NM_000075.4(CDK4):c.330A>T (p.Pro110=)	CDK4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3230232	NM_000075.4(CDK4):c.294G>T (p.Gln98His)	CDK4 (Q98H)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230231	NM_000075.4(CDK4):c.247A>C (p.Thr83Pro)	CDK4 (T83P)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 3230230	NM_000075.4(CDK4):c.231C>T (p.Val77=)	CDK4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	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 3230227	NM_000075.4(CDK4):c.12T>G (p.Ser4=)	CDK4	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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 3061174	NM_000075.4(CDK4):c.888T>C (p.His296=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	CDK4-related disorder	GLikely benign
Select item 3020162	NM_000075.4(CDK4):c.81C>T (p.His27=)	CDK4	Single nucleotide variant (synonymous variant)	Familial melanoma	GLikely benign
Select item 3019273	NM_000075.4(CDK4):c.522+16G>A	CDK4	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 3016516	NM_000075.4(CDK4):c.355-7A>C	CDK4	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
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 3010503	NM_000075.4(CDK4):c.796G>A (p.Glu266Lys)	CDK4, TSPAN31 (E266K)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 3002544	NM_000075.4(CDK4):c.276G>T (p.Val92=)	CDK4	Single nucleotide variant (synonymous variant)	Familial melanoma	GLikely benign
Select item 2993682	NM_000075.4(CDK4):c.576A>G (p.Ala192=)	CDK4	Single nucleotide variant (synonymous variant)	Familial melanoma	GLikely benign
Select item 2989685	NM_000075.4(CDK4):c.799T>G (p.Ser267Ala)	CDK4, TSPAN31 (S267A)	Single nucleotide variant (missense variant +1 more)	Familial melanoma +1 more	GUncertain significance
Select item 2981811	NM_000075.4(CDK4):c.59T>C (p.Val20Ala)	CDK4 (V20A)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2914475	NM_000075.4(CDK4):c.354+12T>G	CDK4	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 2909783	NM_000075.4(CDK4):c.354+11T>G	CDK4	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 2899466	NM_000075.4(CDK4):c.775T>C (p.Ser259Pro)	CDK4, TSPAN31 (S259P)	Single nucleotide variant (missense variant +1 more)	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 2889610	NM_000075.4(CDK4):c.633-10C>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
Select item 2880617	NM_000075.4(CDK4):c.820-6C>G	CDK4, MIR6759 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Familial melanoma	GLikely benign
Select item 2865832	NM_000075.4(CDK4):c.41T>C (p.Val14Ala)	CDK4 (V14A)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2865567	NM_000075.4(CDK4):c.820-13C>T	CDK4, MIR6759 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Familial melanoma	GLikely benign
Select item 2862370	NM_000075.4(CDK4):c.765C>T (p.Arg255=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
Select item 2862183	NM_000075.4(CDK4):c.347_348delinsGA (p.Thr116Arg)	CDK4 (T116R)	Indel (missense variant)	Familial melanoma	GUncertain significance
Select item 2861254	NM_000075.4(CDK4):c.523-20A>G	CDK4	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 2861023	NM_000075.4(CDK4):c.220C>A (p.Leu74Met)	CDK4 (L74M)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2858504	NM_000075.4(CDK4):c.35T>C (p.Ile12Thr)	CDK4 (I12T)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2857991	NM_000075.4(CDK4):c.249T>G (p.Thr83=)	CDK4	Single nucleotide variant (synonymous variant)	Familial melanoma	GLikely benign
Select item 2856499	NM_000075.4(CDK4):c.893A>T (p.Asp298Val)	CDK4, TSPAN31 (D298V)	Single nucleotide variant (missense variant +1 more)	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 2856102	NM_000075.4(CDK4):c.44G>T (p.Gly15Val)	CDK4 (G15V)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2855407	NM_000075.4(CDK4):c.314A>G (p.Asp105Gly)	CDK4 (D105G)	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 2849457	NM_000075.4(CDK4):c.491T>G (p.Ile164Ser)	CDK4 (I164S)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2849443	NM_000075.4(CDK4):c.633-20T>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
Select item 2849020	NM_000075.4(CDK4):c.302G>A (p.Arg101Lys)	CDK4 (R101K)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2843394	NM_000075.4(CDK4):c.819+17T>G	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
Select item 2841200	NM_000075.4(CDK4):c.535T>C (p.Trp179Arg)	CDK4 (W179R)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2840080	NM_000075.4(CDK4):c.870G>A (p.Leu290=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
Select item 2839860	NM_000075.4(CDK4):c.644G>A (p.Cys215Tyr)	CDK4, TSPAN31 (C215Y)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2836175	NM_000075.4(CDK4):c.435C>T (p.Asn145=)	CDK4	Single nucleotide variant (synonymous variant)	Familial melanoma	GLikely benign
Select item 2834718	NM_000075.4(CDK4):c.324C>T (p.Pro108=)	CDK4	Single nucleotide variant (synonymous variant)	Familial melanoma	GLikely benign
Select item 2831896	NM_000075.4(CDK4):c.592T>C (p.Trp198Arg)	CDK4 (W198R)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2830374	NM_000075.4(CDK4):c.251A>T (p.Asp84Val)	CDK4 (D84V)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2830043	NM_000075.4(CDK4):c.769G>A (p.Val257Met)	CDK4, TSPAN31 (V257M)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2829044	NM_000075.4(CDK4):c.343G>T (p.Glu115Ter)	CDK4 (E115*)	Single nucleotide variant (nonsense)	Familial melanoma	GUncertain significance
Select item 2827533	NM_000075.4(CDK4):c.768A>C (p.Pro256=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
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 2823160	NM_000075.4(CDK4):c.358C>T (p.Leu120=)	CDK4	Single nucleotide variant (synonymous variant)	Familial melanoma	GLikely benign
Select item 2822419	NM_000075.4(CDK4):c.11C>G (p.Ser4Cys)	CDK4 (S4C)	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)	Familial melanoma	GLikely benign
Select item 2818435	NM_000075.4(CDK4):c.13C>T (p.Arg5Ter)	CDK4 (R5*)	Single nucleotide variant (nonsense)	Familial melanoma	GUncertain significance
Select item 2816243	NM_000075.4(CDK4):c.699T>C (p.Pro233=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	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 2814543	NM_000075.4(CDK4):c.523-10T>A	CDK4	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 2812839	NM_000075.4(CDK4):c.899G>T (p.Gly300Val)	CDK4, TSPAN31 (G300V)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2811134	NM_000075.4(CDK4):c.820-10C>T	CDK4, MIR6759 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Familial melanoma	GLikely benign
Select item 2801270	NM_000075.4(CDK4):c.408C>G (p.Ile136Met)	CDK4 (I136M)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2794869	NM_000075.4(CDK4):c.632+11C>A	CDK4	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 2794472	NM_000075.4(CDK4):c.530C>A (p.Thr177Lys)	CDK4 (T177K)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2788831	NM_000075.4(CDK4):c.683+9C>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
Select item 2787442	NM_000075.4(CDK4):c.218+20T>C	CDK4, LOC130008148	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign

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