ClinVar for MedGen (Select 268851) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 1000

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3245179	NC_000009.11:g.(?_21971045)_(21981194_?)del	CDKN2A	Deletion	Familial melanoma	GPathogenic
Select item 3245178	NC_000009.11:g.(?_21971043)_(21981192_?)del	CDKN2A	Deletion	Familial melanoma	GPathogenic
Select item 3245177	NC_000009.11:g.(?_21973573)_(21975027_?)dup	CDKN2A	Duplication	Familial melanoma	GUncertain significance
Select item 3245176	NC_000009.11:g.(?_21968228)_(21994330_?)dup	CDKN2A	Duplication	Familial melanoma	GUncertain significance
Select item 3245175	NC_000009.11:g.(?_21973573)_(21975027_?)del	CDKN2A	Deletion	Familial melanoma	GPathogenic
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 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 2996820	NM_000077.5(CDKN2A):c.60G>A (p.Ala20=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	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 2976242	NM_000077.5(CDKN2A):c.140G>A (p.Arg47Lys)	CDKN2A (R47K)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2968541	NM_000077.5(CDKN2A):c.102G>C (p.Ala34=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
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 2891892	NM_000077.5(CDKN2A):c.206A>C (p.Glu69Ala)	CDKN2A (E18A +1 more)	Single nucleotide variant (missense variant +2 more)	Familial melanoma	GUncertain significance
Select item 2891234	NM_000077.5(CDKN2A):c.123G>C (p.Pro41=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
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 2882705	NM_000077.5(CDKN2A):c.151-18T>A	CDKN2A	Single nucleotide variant (intron variant)	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 2868822	NM_000077.5(CDKN2A):c.252C>G (p.Asp84Glu)	CDKN2A (D84E +2 more)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2867606	NM_000077.5(CDKN2A):c.296G>T (p.Arg99Leu)	CDKN2A (R99L +1 more)	Single nucleotide variant (missense variant +2 more)	Familial melanoma	GUncertain significance
Select item 2866820	NM_000077.5(CDKN2A):c.120del (p.Pro41fs)	CDKN2A (P41fs)	Deletion (frameshift variant +1 more)	Familial melanoma	GPathogenic
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 2865752	NM_000077.5(CDKN2A):c.457+17del	CDKN2A	Deletion (intron variant)	Familial melanoma	GLikely benign
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 2863371	NM_000077.5(CDKN2A):c.69T>A (p.Gly23=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
Select item 2863240	NM_000077.5(CDKN2A):c.98A>T (p.Glu33Val)	CDKN2A (E33V)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2862448	NM_000077.5(CDKN2A):c.150G>A (p.Gln50=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GUncertain significance
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 2857565	NM_000077.5(CDKN2A):c.458-9_458-6dup	CDKN2A	Duplication (intron 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 2855411	NM_000077.5(CDKN2A):c.248_272del (p.His83fs)	CDKN2A (R98fs +2 more)	Deletion (frameshift variant +1 more)	Familial melanoma	GPathogenic
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 2848718	NM_000077.5(CDKN2A):c.151-14G>C	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 2844477	NM_000077.5(CDKN2A):c.188_257del (p.Leu63fs)	CDKN2A (L12fs +2 more)	Deletion (frameshift variant +1 more)	Familial melanoma	GPathogenic
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 2836865	NM_000077.5(CDKN2A):c.367C>T (p.His123Tyr)	CDKN2A (H123Y +1 more)	Single nucleotide variant (3 prime UTR 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 2820920	NM_000077.5(CDKN2A):c.436G>T (p.Asp146Tyr)	CDKN2A (D146Y +1 more)	Single nucleotide variant (missense variant +1 more)	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 2818317	NM_000077.5(CDKN2A):c.457+13G>A	CDKN2A	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
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 2814776	NM_000077.5(CDKN2A):c.232C>G (p.Leu78Val)	CDKN2A (L27V +2 more)	Single nucleotide variant (missense variant +1 more)	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 2809872	NM_000077.5(CDKN2A):c.97G>A (p.Glu33Lys)	CDKN2A (E33K)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2804807	NM_000077.5(CDKN2A):c.121C>T (p.Pro41Ser)	CDKN2A (P41S)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2801852	NM_000077.5(CDKN2A):c.457+14A>T	CDKN2A	Single nucleotide variant (intron variant)	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 2796337	NM_000077.5(CDKN2A):c.130del (p.Tyr44fs)	CDKN2A (Y44fs)	Deletion (frameshift variant +1 more)	Familial melanoma	GPathogenic
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 2791115	NM_000077.5(CDKN2A):c.102G>A (p.Ala34=)	CDKN2A	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
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
Select item 2779854	NM_000077.5(CDKN2A):c.150+4G>C	CDKN2A (G52R)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2777318	NM_000075.4(CDK4):c.716C>T (p.Pro239Leu)	CDK4, TSPAN31 (P239L)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2777163	NM_000075.4(CDK4):c.310C>G (p.Leu104Val)	CDK4 (L104V)	Single nucleotide variant (missense variant)	Familial melanoma +1 more	GUncertain significance
Select item 2775055	NM_000077.5(CDKN2A):c.190C>G (p.Leu64Val)	CDKN2A (L13V +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2775054	NM_000077.5(CDKN2A):c.334C>T (p.Arg112Cys)	CDKN2A (R61C +2 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2773139	NM_000075.4(CDK4):c.243C>T (p.Ser81=)	CDK4	Single nucleotide variant (synonymous variant)	Familial melanoma	GLikely benign
Select item 2771189	NM_000075.4(CDK4):c.377G>C (p.Arg126Thr)	CDK4 (R126T)	Single nucleotide variant (missense variant)	Familial melanoma +1 more	GUncertain significance
Select item 2770920	NM_000077.5(CDKN2A):c.429_430delinsAT (p.Arg144Cys)	CDKN2A (R144C +1 more)	Indel (missense variant +1 more)	Familial melanoma	GLikely benign
Select item 2769701	NM_000077.5(CDKN2A):c.381_391del (p.Tyr129fs)	CDKN2A (Y129fs +1 more)	Deletion (frameshift variant +1 more)	Familial melanoma	GPathogenic

<< First< Prev

Page of 10