ClinVar for Gene (Select 4157) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243488	NC_000016.10:g.(?_89919259)_(89920212_?)dup	MC1R	Duplication	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 3243487	NC_000016.9:g.(?_89986209)_(89987212_?)del	MC1R	Deletion	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 3243329	NC_000016.9:g.(?_88717344)_(90106937_?)dup	ACSF3, ANKRD11 +36 more	Duplication	KBG syndrome	GUncertain significance
Select item 3243238	NC_000016.9:g.(?_89874682)_(90002212_?)del	FANCA, MC1R +3 more	Deletion	Fanconi anemia	GPathogenic
Select item 3243229	NC_000016.9:g.(?_89865554)_(90109753_?)del	CENPBD1, DBNDD1 +8 more	Deletion	Fanconi anemia	GPathogenic
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3014861	NM_002386.4(MC1R):c.800G>A (p.Cys267Tyr)	MC1R (C267Y)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 3011315	NM_002386.4(MC1R):c.686_688dup (p.Arg229_Pro230insArg)	MC1R	Duplication (inframe_insertion)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 3010539	NM_002386.4(MC1R):c.471C>T (p.Thr157=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2997923	NM_002386.4(MC1R):c.565C>T (p.Leu189=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2986326	NM_002386.4(MC1R):c.50C>A (p.Thr17Asn)	MC1R (T17N)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2978196	NM_002386.4(MC1R):c.943T>C (p.Cys315Arg)	MC1R (C315R)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2970169	NM_002386.4(MC1R):c.158TGG[1] (p.Val54del)	MC1R (V54del)	Microsatellite (inframe_deletion)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2966730	NM_002386.4(MC1R):c.937C>T (p.Leu313=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2966638	NM_002386.4(MC1R):c.787C>G (p.Leu263Val)	MC1R (L263V)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2918843	NM_002386.4(MC1R):c.337C>T (p.Leu113=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2918836	NM_002386.4(MC1R):c.667C>G (p.Arg223Gly)	MC1R (R223G)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2918297	NM_002386.4(MC1R):c.231C>G (p.Ile77Met)	MC1R (I77M)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2914474	NM_002386.4(MC1R):c.726C>G (p.Thr242=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2910377	NM_002386.4(MC1R):c.438C>T (p.Ile146=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2908964	NM_002386.4(MC1R):c.480G>T (p.Arg160=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2906614	NM_002386.4(MC1R):c.541G>C (p.Ala181Pro)	MC1R (A181P)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2906189	NM_002386.4(MC1R):c.323C>A (p.Ala108Asp)	MC1R (A108D)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2903029	NM_002386.4(MC1R):c.894_895insATCGACCCCCTCATCCTG (p.Tyr298_Ala299insIleAspProLeuIleLeu)	MC1R	Insertion (inframe_insertion)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2891509	NM_002386.4(MC1R):c.911A>T (p.Glu304Val)	MC1R (E304V)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2889723	NM_002386.4(MC1R):c.887_888del (p.Leu296fs)	MC1R (L296fs)	Deletion (frameshift variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2888585	NM_002386.4(MC1R):c.75G>T (p.Gly25=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2886256	NM_002386.4(MC1R):c.551A>G (p.Asp184Gly)	MC1R (D184G)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2885333	NM_002386.4(MC1R):c.273_274delinsGA (p.Asn91_Val92delinsLysMet)	MC1R	Indel (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2884798	NM_002386.4(MC1R):c.122C>A (p.Ser41Tyr)	MC1R (S41Y)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2881540	NM_002386.4(MC1R):c.30_46del (p.Leu11fs)	MC1R (L11fs)	Deletion (frameshift variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2872328	NM_002386.4(MC1R):c.-11_19del (p.Met1_Gln7del)	MC1R	Deletion (inframe_deletion +1 more)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2870633	NM_002386.4(MC1R):c.129G>C (p.Gly43=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2854000	NM_002386.4(MC1R):c.348G>A (p.Leu116=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2852591	NM_002386.4(MC1R):c.491C>G (p.Ala164Gly)	MC1R (A164G)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2833846	NM_002386.4(MC1R):c.751T>G (p.Phe251Val)	MC1R (F251V)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2832137	NM_002386.4(MC1R):c.207G>C (p.Leu69=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2813060	NM_002386.4(MC1R):c.567G>T (p.Leu189=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2800984	NM_002386.4(MC1R):c.511G>T (p.Ala171Ser)	MC1R (A171S)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2777409	NM_002386.4(MC1R):c.185_193del (p.Thr62_Ala64del)	MC1R	Deletion (inframe_deletion)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2761098	NM_002386.4(MC1R):c.506G>A (p.Trp169Ter)	MC1R (W169*)	Single nucleotide variant (nonsense)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2760591	NM_002386.4(MC1R):c.415G>T (p.Ala139Ser)	MC1R (A139S)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2759001	NM_002386.4(MC1R):c.882C>T (p.Asp294=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2758892	NM_002386.4(MC1R):c.181G>A (p.Ala61Thr)	MC1R (A61T)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2756440	NM_002386.4(MC1R):c.366G>C (p.Val122=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2756167	NM_002386.4(MC1R):c.654C>T (p.Ala218=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2756152	NM_002386.4(MC1R):c.586T>G (p.Phe196Val)	MC1R (F196V)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2737531	NM_002386.4(MC1R):c.790A>G (p.Ile264Val)	MC1R (I264V)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2731636	NM_002386.4(MC1R):c.426C>G (p.Arg142=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2731553	NM_002386.4(MC1R):c.547T>G (p.Tyr183Asp)	MC1R (Y183D)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2725800	NM_002386.4(MC1R):c.466G>A (p.Val156Met)	MC1R (V156M)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2724439	NM_002386.4(MC1R):c.135C>G (p.Phe45Leu)	MC1R (F45L)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2723706	NM_002386.4(MC1R):c.778C>T (p.His260Tyr)	MC1R (H260Y)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2714854	NM_002386.4(MC1R):c.564C>A (p.Val188=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2698184	NM_002386.4(MC1R):c.730A>C (p.Thr244Pro)	MC1R (T244P)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2632363	NM_002386.4(MC1R):c.372del (p.Cys125fs)	MC1R (C125fs)	Deletion (frameshift variant)	MC1R-related disorder	GUncertain significance
Select item 2490246	NM_002386.4(MC1R):c.811C>G (p.Pro271Ala)	MC1R (P271A)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +1 more	GUncertain significance
Select item 2427826	NM_002386.4(MC1R):c.452G>A (p.Arg151His)	MC1R (R151H)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2422433	NC_000016.9:g.(?_89611036)_(90106937_?)dup	CDK10, CENPBD1 +18 more	Duplication	Fanconi anemia	GUncertain significance
Select item 2422362	NC_000016.9:g.(?_87636753)_(90109753_?)dup	ACSF3, ANKRD11 +45 more	Duplication	Granulomatous disease, chronic, autosomal recessive, cytochrome b-negative +2 more	GUncertain significance
Select item 2421738	NM_002386.4(MC1R):c.157T>C (p.Leu53=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2419847	NM_002386.4(MC1R):c.951dup (p.Ter318ValextTer?)	MC1R	Duplication (frameshift variant +1 more)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2296009	NM_002386.4(MC1R):c.4G>T (p.Ala2Ser)	MC1R (A2S)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +1 more	GUncertain significance
Select item 2283214	NM_002386.4(MC1R):c.548A>G (p.Tyr183Cys)	MC1R (Y183C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2276891	NM_002386.4(MC1R):c.131T>C (p.Leu44Pro)	MC1R (L44P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2246340	NM_002386.4(MC1R):c.661A>G (p.Ile221Val)	MC1R (I221V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2201269	NM_002386.4(MC1R):c.106C>G (p.Leu36Val)	MC1R (L36V)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2199191	NM_002386.4(MC1R):c.880G>T (p.Asp294Tyr)	MC1R (D294Y)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2198266	NM_002386.4(MC1R):c.88C>T (p.Gln30Ter)	MC1R (Q30*)	Single nucleotide variant (nonsense)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2196204	NM_002386.4(MC1R):c.264C>T (p.Ser88=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2196073	NM_002386.4(MC1R):c.723C>T (p.Val241=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2189820	NM_002386.4(MC1R):c.561C>T (p.Ala187=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2185935	NM_002386.4(MC1R):c.868A>T (p.Asn290Tyr)	MC1R (N290Y)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2184583	NM_002386.4(MC1R):c.461G>T (p.Ser154Ile)	MC1R (S154I)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2176995	NM_002386.4(MC1R):c.422A>T (p.Asp141Val)	MC1R (D141V)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2175946	NM_002386.4(MC1R):c.86A>G (p.Asn29Ser)	MC1R (N29S)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2168159	NM_002386.4(MC1R):c.284C>G (p.Thr95Arg)	MC1R (T95R)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2164142	NM_002386.4(MC1R):c.519C>T (p.Val173=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2162412	NM_002386.4(MC1R):c.439T>C (p.Phe147Leu)	MC1R (F147L)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2160516	NM_002386.4(MC1R):c.568C>T (p.Leu190=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2160243	NM_002386.4(MC1R):c.753C>T (p.Phe251=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GBenign
Select item 2156905	NM_002386.4(MC1R):c.542C>G (p.Ala181Gly)	MC1R (A181G)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2146384	NM_002386.4(MC1R):c.786A>G (p.Thr262=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2145211	NM_002386.4(MC1R):c.833A>G (p.Lys278Arg)	MC1R (K278R)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2142943	NM_002386.4(MC1R):c.883C>T (p.Pro295Ser)	MC1R (P295S)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2138814	NM_002386.4(MC1R):c.847T>C (p.Phe283Leu)	MC1R (F283L)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2138304	NM_002386.4(MC1R):c.585C>T (p.Phe195=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2137866	NM_002386.4(MC1R):c.350A>G (p.Asp117Gly)	MC1R (D117G)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2108590	NM_002386.4(MC1R):c.951G>A (p.Trp317Ter)	MC1R (W317*)	Single nucleotide variant (nonsense)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2102892	NM_002386.4(MC1R):c.730A>G (p.Thr244Ala)	MC1R (T244A)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2085880	NM_002386.4(MC1R):c.855C>T (p.Ala285=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2084695	NM_002386.4(MC1R):c.676A>T (p.Lys226Ter)	MC1R (K226*)	Single nucleotide variant (nonsense)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2082108	NM_002386.4(MC1R):c.864C>G (p.Ile288Met)	MC1R (I288M)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +1 more	GUncertain significance
Select item 2079206	NM_002386.4(MC1R):c.602T>C (p.Val201Ala)	MC1R (V201A)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2066033	NM_002386.4(MC1R):c.875T>C (p.Ile292Thr)	MC1R (I292T)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2064938	NM_002386.4(MC1R):c.136C>T (p.Leu46Phe)	MC1R (L46F)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2064556	NM_002386.4(MC1R):c.939G>C (p.Leu313=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2064158	NM_002386.4(MC1R):c.382A>G (p.Met128Val)	MC1R (M128V)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 2045712	NM_002386.4(MC1R):c.267G>A (p.Gly89=)	MC1R	Single nucleotide variant (synonymous variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GLikely benign
Select item 2042101	NM_002386.4(MC1R):c.541G>A (p.Ala181Thr)	MC1R (A181T)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance

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