MC2R[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 889852	NM_000529.2(MC2R):c.*2572G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326122	NM_000529.2(MC2R):c.*2528T>G	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GBenign
Select item 326123	NM_000529.2(MC2R):c.*2432A>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1 +1 more	GLikely benign
Select item 889853	NM_000529.2(MC2R):c.*2427T>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326124	NM_000529.2(MC2R):c.*2427del	MC2R	Deletion (3 prime UTR variant)	Glucocorticoid Deficiency	GLikely benign
Select item 326125	NM_000529.2(MC2R):c.*2426T>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GBenign
Select item 889854	NM_000529.2(MC2R):c.*2409A>G	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326126	NM_000529.2(MC2R):c.*2394C>G	MC2R	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 326127	NM_000529.2(MC2R):c.*2323C>T	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GLikely benign
Select item 891401	NM_000529.2(MC2R):c.*2224A>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GLikely benign
Select item 326128	NM_000529.2(MC2R):c.*2138G>T	MC2R	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 891402	NM_000529.2(MC2R):c.*2065G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GLikely benign
Select item 326129	NM_000529.2(MC2R):c.*1973dup	MC2R	Duplication (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 326130	NM_000529.2(MC2R):c.*1941TG[1]	MC2R	Microsatellite (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 326131	NM_000529.2(MC2R):c.*1920T>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GBenign
Select item 891403	NM_000529.2(MC2R):c.*1917C>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326132	NM_000529.2(MC2R):c.*1896C>T	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1 +1 more	GBenign
Select item 326133	NM_000529.2(MC2R):c.*1885T>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1 +1 more	GBenign
Select item 326134	NM_000529.2(MC2R):c.*1877A>G	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GBenign
Select item 891644	NM_000529.2(MC2R):c.*1870A>G	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 891645	NM_000529.2(MC2R):c.*1856T>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326135	NM_000529.2(MC2R):c.*1759C>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GBenign
Select item 326136	NM_000529.2(MC2R):c.*1667G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326137	NM_000529.2(MC2R):c.*1619G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GLikely benign
Select item 326138	NM_000529.2(MC2R):c.*1604G>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1 +1 more	GBenign
Select item 326139	NM_000529.2(MC2R):c.*1566G>T	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 326140	NM_000529.2(MC2R):c.*1537A>G	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 889232	NM_000529.2(MC2R):c.*1469A>G	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326141	NM_000529.2(MC2R):c.*1452A>G	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326142	NM_000529.2(MC2R):c.*1390G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 889233	NM_000529.2(MC2R):c.*1330A>G	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GBenign
Select item 326143	NM_000529.2(MC2R):c.*1274T>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326144	NM_000529.2(MC2R):c.*1265A>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 889234	NM_000529.2(MC2R):c.*1144G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GBenign
Select item 326145	NM_000529.2(MC2R):c.*1099A>T	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1 +1 more	GBenign
Select item 326146	NM_000529.2(MC2R):c.*1092G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 889910	NM_000529.2(MC2R):c.*1068A>G	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326147	NM_000529.2(MC2R):c.*1061C>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GBenign
Select item 326149	NM_000529.2(MC2R):c.1045_1050del	MC2R	Deletion (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 326148	NM_000529.2(MC2R):c.1049_1050del	MC2R	Deletion (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 326151	NM_000529.2(MC2R):c.*997GT[28]	MC2R	Microsatellite (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 326150	NM_000529.2(MC2R):c.*997GT[27]	MC2R	Microsatellite (3 prime UTR variant)	Glucocorticoid Deficiency +1 more	GUncertain significance
Select item 326154	NM_000529.2(MC2R):c.*997GT[23]	MC2R	Microsatellite (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 326153	NM_000529.2(MC2R):c.*997GT[24]	MC2R	Microsatellite (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 326152	NM_000529.2(MC2R):c.*997GT[25]	MC2R	Microsatellite (3 prime UTR variant)	Glucocorticoid Deficiency +1 more	GUncertain significance
Select item 889911	NM_000529.2(MC2R):c.*1043G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 889912	NM_000529.2(MC2R):c.*1039G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 889913	NM_000529.2(MC2R):c.*1035G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326155	NM_000529.2(MC2R):c.*1012T>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326156	NM_000529.2(MC2R):c.*1010T>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326157	NM_000529.2(MC2R):c.998_1008delinsA	MC2R	Indel (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 326158	NM_000529.2(MC2R):c.998_1006delinsAGAGA	MC2R	Indel (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 891459	NM_000529.2(MC2R):c.*1004T>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326159	NM_000529.2(MC2R):c.994_1003del	MC2R	Deletion (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 891460	NM_000529.2(MC2R):c.*1002T>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326160	NM_000529.2(MC2R):c.*1000T>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326162	NM_000529.2(MC2R):c.994_999del	MC2R	Deletion (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 326161	NM_000529.2(MC2R):c.996_999del	MC2R	Deletion (3 prime UTR variant)	Glucocorticoid Deficiency +1 more	GUncertain significance
Select item 326164	NM_000529.2(MC2R):c.*998T>A	MC2R	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 326163	NM_000529.2(MC2R):c.997_998insAGTG	MC2R	Insertion (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 326165	NM_000529.2(MC2R):c.*968AG[14]	MC2R	Microsatellite (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 326166	NM_000529.2(MC2R):c.*996A>T	MC2R	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 891461	NM_000529.2(MC2R):c.*994A>T	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 891717	NM_000529.2(MC2R):c.*992A>T	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 891718	NM_000529.2(MC2R):c.*990A>T	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 891719	NM_000529.2(MC2R):c.*971G>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1 +1 more	GUncertain significance
Select item 326167	NM_000529.2(MC2R):c.963_968del	MC2R	Deletion (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 891720	NM_000529.2(MC2R):c.*957C>G	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326168	NM_000529.2(MC2R):c.*947GA[6]	MC2R	Microsatellite (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 326169	NM_000529.2(MC2R):c.*911A>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326170	NM_000529.2(MC2R):c.*880C>T	MC2R	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 326171	NM_000529.2(MC2R):c.*862T>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326172	NM_000529.2(MC2R):c.*848A>T	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326173	NM_000529.2(MC2R):c.*791A>G	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326174	NM_000529.2(MC2R):c.*685G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 889290	NM_000529.2(MC2R):c.*673C>T	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326175	NM_000529.2(MC2R):c.*615C>T	MC2R	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 326176	NM_000529.2(MC2R):c.*608A>G	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 889291	NM_000529.2(MC2R):c.*582C>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326177	NM_000529.2(MC2R):c.*578C>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1 +1 more	GUncertain significance
Select item 326178	NM_000529.2(MC2R):c.*535G>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GBenign
Select item 889971	NM_000529.2(MC2R):c.*491A>G	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GBenign
Select item 326179	NM_000529.2(MC2R):c.*471C>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326180	NM_000529.2(MC2R):c.*470G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326181	NM_000529.2(MC2R):c.*434T>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326182	NM_000529.2(MC2R):c.*427G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GLikely benign
Select item 326183	NM_000529.2(MC2R):c.*406C>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326184	NM_000529.2(MC2R):c.*401del	MC2R	Deletion (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 326185	NM_000529.2(MC2R):c.*390A>G	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326186	NM_000529.2(MC2R):c.*376G>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 891537	NM_000529.2(MC2R):c.*366G>T	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 891538	NM_000529.2(MC2R):c.*223T>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326187	NM_000529.2(MC2R):c.*216G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 891539	NM_000529.2(MC2R):c.*117A>T	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GLikely benign
Select item 326188	NM_000529.2(MC2R):c.*111G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1 +1 more	GBenign
Select item 326189	NM_000529.2(MC2R):c.*58G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 326190	NM_000529.2(MC2R):c.*27C>T	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 1206335	NM_000529.2(MC2R):c.889T>C (p.Trp297Arg)	MC2R (W297R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2474275	NM_000529.2(MC2R):c.869T>A (p.Met290Lys)	MC2R (M290K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 326191	NM_000529.2(MC2R):c.833T>G (p.Phe278Cys)	MC2R (F278C)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign

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