Related gene-specific medical variations for Gene (Select 1019) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3233673	NM_005981.5(TSPAN31):c.*2219G>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	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 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 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 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 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 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)	TSPAN31, CDK4 (E266K)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2989685	NM_000075.4(CDK4):c.799T>G (p.Ser267Ala)	CDK4, TSPAN31 (S267A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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	LOC130008148, CDK4	Single nucleotide variant (intron variant)	Familial melanoma	GUncertain significance
Select item 2889610	NM_005981.5(TSPAN31):c.*2224G>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
Select item 2880617	NM_005981.5(TSPAN31):c.*1333G>C	CDK4, MIR6759 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Familial melanoma	GLikely benign
Select item 2865567	NM_005981.5(TSPAN31):c.*1340G>A	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 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 2851953	NM_000075.4(CDK4):c.128G>C (p.Gly43Ala)	CDK4, LOC130008148 (G43A)	Single nucleotide variant (missense variant)	Familial melanoma	GUncertain significance
Select item 2849443	NM_005981.5(TSPAN31):c.*2234A>T	TSPAN31, CDK4	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
Select item 2843394	NM_005981.5(TSPAN31):c.*1875A>C	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
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 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 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 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 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)	LOC130008148, CDK4	Deletion (inframe_indel)	Familial melanoma	GUncertain significance
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_005981.5(TSPAN31):c.*1337G>A	TSPAN31, CDK4 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Familial melanoma	GLikely benign
Select item 2788831	NM_005981.5(TSPAN31):c.*2155G>A	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	LOC130008148, CDK4	Single nucleotide variant (intron variant)	Familial melanoma	GLikely benign
Select item 2777318	NM_000075.4(CDK4):c.716C>T (p.Pro239Leu)	TSPAN31, CDK4 (P239L)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2761613	NM_000075.4(CDK4):c.664C>A (p.Gln222Lys)	CDK4, TSPAN31 (Q222K)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2758428	NM_000075.4(CDK4):c.837C>G (p.Asn279Lys)	CDK4, TSPAN31 (N279K)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2746564	NM_000075.4(CDK4):c.907G>T (p.Glu303Ter)	CDK4, TSPAN31 (E303*)	Single nucleotide variant (nonsense +1 more)	Familial melanoma	GUncertain significance
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 2727130	NM_005981.5(TSPAN31):c.*1342A>T	CDK4, MIR6759 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Familial melanoma	GLikely benign
Select item 2710534	NM_000075.4(CDK4):c.177A>G (p.Leu59=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 2705638	NM_000075.4(CDK4):c.805G>T (p.Ala269Ser)	TSPAN31, CDK4 (A269S)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
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 2699604	NM_000075.4(CDK4):c.801G>T (p.Ser267=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
Select item 2695753	NM_005981.5(TSPAN31):c.*2156T>G	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
Select item 2691920	NM_005981.5(TSPAN31):c.*1849C>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2681861	NM_000075.4(CDK4):c.232T>A (p.Cys78Ser)	CDK4 (C78S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2603199	NM_000075.4(CDK4):c.694_706dup (p.Asp236fs)	CDK4, TSPAN31 (D236fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586841	NM_000075.4(CDK4):c.743C>T (p.Ala248Val)	CDK4, TSPAN31 (A248V)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586840	NM_000075.4(CDK4):c.642C>T (p.Phe214=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2586839	NM_000075.4(CDK4):c.123T>C (p.Asn41=)	CDK4, LOC130008148	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2586838	NM_000075.4(CDK4):c.727T>C (p.Ser243Pro)	CDK4, TSPAN31 (S243P)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586835	NM_000075.4(CDK4):c.819G>T (p.Leu273=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2579887	NM_000075.4(CDK4):c.833_834del (p.Thr277_Phe278insTer)	CDK4, TSPAN31	Deletion (frameshift variant +2 more)	not provided	GUncertain significance
Select item 2576687	NM_000075.4(CDK4):c.684C>G (p.Asp228Glu)	CDK4, TSPAN31 (D228E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2575319	NM_005981.5(TSPAN31):c.*2116A>C	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2566778	NM_000075.4(CDK4):c.774G>T (p.Gln258His)	CDK4, TSPAN31 (Q258H)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2566776	NM_000075.4(CDK4):c.776C>G (p.Ser259Trp)	CDK4, TSPAN31 (S259W)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2452475	NM_000075.4(CDK4):c.754A>G (p.Arg252Gly)	CDK4, TSPAN31 (R252G)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2452474	NM_000075.4(CDK4):c.676A>C (p.Ile226Leu)	CDK4, TSPAN31 (I226L)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2452472	NM_000075.4(CDK4):c.750C>A (p.Pro250=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2452469	NM_005981.5(TSPAN31):c.*1887A>C	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2452466	NM_000075.4(CDK4):c.852C>A (p.Ile284=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2452465	NM_000075.4(CDK4):c.687G>C (p.Leu229=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 2198156	NM_005981.5(TSPAN31):c.*1335G>C	CDK4, MIR6759 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Familial melanoma	GLikely benign
Select item 2181621	NM_005981.5(TSPAN31):c.*2234A>G	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
Select item 2178522	NM_005981.5(TSPAN31):c.*1884T>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely 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 2163428	NM_000075.4(CDK4):c.729C>T (p.Ser243=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
Select item 2163427	NM_000075.4(CDK4):c.732G>A (p.Leu244=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
Select item 2160315	NM_000075.4(CDK4):c.786T>C (p.Pro262=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
Select item 2156784	NM_005981.5(TSPAN31):c.*2039A>G	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
Select item 2154539	NM_000075.4(CDK4):c.748C>G (p.Pro250Ala)	CDK4, TSPAN31 (P250A)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2147035	NM_005981.5(TSPAN31):c.*1879C>G	TSPAN31, CDK4	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
Select item 2139791	NM_005981.5(TSPAN31):c.*2225A>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
Select item 2135777	NM_000075.4(CDK4):c.889_903del (p.Lys297_Asn301del)	CDK4, TSPAN31	Deletion (inframe_deletion +1 more)	Familial melanoma	GUncertain significance
Select item 2128749	NM_000075.4(CDK4):c.780G>C (p.Val260=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
Select item 2120013	NM_005981.5(TSPAN31):c.*1340G>C	TSPAN31, CDK4 +1 more	Single nucleotide variant (non-coding transcript variant +2 more)	Familial melanoma	GLikely benign
Select item 2119283	NM_005981.5(TSPAN31):c.*2146C>G	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
Select item 2117827	NM_005981.5(TSPAN31):c.1333_1334insC	CDK4, MIR6759 +1 more	Insertion (non-coding transcript variant +2 more)	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 2112886	NM_005981.5(TSPAN31):c.*2220G>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
Select item 2109013	NM_000075.4(CDK4):c.837C>T (p.Asn279=)	CDK4, TSPAN31	Single nucleotide variant (synonymous variant +1 more)	Familial melanoma	GLikely benign
Select item 2108370	NM_000075.4(CDK4):c.787G>A (p.Glu263Lys)	TSPAN31, CDK4 (E263K)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2105033	NM_005981.5(TSPAN31):c.*2032G>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
Select item 2089497	NM_000075.4(CDK4):c.653C>T (p.Ser218Phe)	CDK4, TSPAN31 (S218F)	Single nucleotide variant (missense variant +1 more)	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 2067880	NM_000075.4(CDK4):c.880T>C (p.Tyr294His)	CDK4, TSPAN31 (Y294H)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2066664	NM_005981.5(TSPAN31):c.*2038C>T	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
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 2057018	NM_000075.4(CDK4):c.701C>A (p.Pro234Gln)	CDK4, TSPAN31 (P234Q)	Single nucleotide variant (missense variant +1 more)	Familial melanoma	GUncertain significance
Select item 2041220	NM_005981.5(TSPAN31):c.*2033G>A	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign
Select item 2037528	NM_000075.4(CDK4):c.201G>A (p.Glu67=)	LOC130008148, CDK4	Single nucleotide variant (synonymous variant)	Familial melanoma	GLikely benign
Select item 2035159	NM_005981.5(TSPAN31):c.*2152T>C	CDK4, TSPAN31	Single nucleotide variant (3 prime UTR variant +1 more)	Familial melanoma	GLikely benign

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