MC2R[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	ADCYAP1, AFG3L2 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	NDUFV2-AS1, PIEZO2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LOC130062167, LOC130062168 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	LOC125338465, LOC125338466 +367 more	Copy number gain	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC130062104, LOC130062105 +368 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062144, LOC130062145 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	SLC35G4, SMCHD1 +375 more	Copy number gain	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 147418	GRCh38/hg38 18p11.22-11.21(chr18:10077657-14081888)x3	AFG3L2, ANKRD62 +137 more	Copy number gain	See cases	GPathogenic
Select item 155388	GRCh38/hg38 18p11.21-q11.2(chr18:13340112-23409879)	LOC130062243, LOC130062244 +111 more	Copy number gain	See cases	GPathogenic
Select item 148622	GRCh38/hg38 18p11.21(chr18:13604748-14089410)x4	FAM210A, LDLRAD4 +16 more	Copy number gain	See cases	GUncertain significance
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

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