C1955741[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 326124	NM_000529.2(MC2R):c.*2427del	MC2R	Deletion (3 prime UTR variant)	Glucocorticoid Deficiency	GLikely benign
Select item 326129	NM_000529.2(MC2R):c.*1973dup	MC2R	Duplication (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 326130	NM_000529.2(MC2R):c.*1941TG[1]	MC2R	Microsatellite (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 326139	NM_000529.2(MC2R):c.*1566G>T	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid Deficiency	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 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	GUncertain significance
Select item 326154	NM_000529.2(MC2R):c.*997GT[23]	MC2R	Microsatellite (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 326153	NM_000529.2(MC2R):c.*997GT[24]	MC2R	Microsatellite (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 326152	NM_000529.2(MC2R):c.*997GT[25]	MC2R	Microsatellite (3 prime UTR variant)	Glucocorticoid Deficiency	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 326159	NM_000529.2(MC2R):c.994_1003del	MC2R	Deletion (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 326162	NM_000529.2(MC2R):c.994_999del	MC2R	Deletion (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 326161	NM_000529.2(MC2R):c.996_999del	MC2R	Deletion (3 prime UTR variant)	Glucocorticoid Deficiency	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)	Glucocorticoid Deficiency	GUncertain significance
Select item 326167	NM_000529.2(MC2R):c.963_968del	MC2R	Deletion (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 326168	NM_000529.2(MC2R):c.*947GA[6]	MC2R	Microsatellite (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 326184	NM_000529.2(MC2R):c.*401del	MC2R	Deletion (3 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance
Select item 326193	NM_000529.2(MC2R):c.765G>A (p.Met255Ile)	MC2R (M255I)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 80762	NM_000529.2(MC2R):c.318C>T (p.Ile106=)	MC2R	Single nucleotide variant (synonymous variant)	Glucocorticoid Deficiency +1 more	GConflicting classifications of pathogenicity
Select item 3258	NM_000529.2(MC2R):c.221G>T (p.Ser74Ile)	MC2R (S74I)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 492864	NM_000529.2(MC2R):c.80C>G (p.Pro27Arg)	MC2R (P27R)	Single nucleotide variant (missense variant)	MC2R-related condition +2 more	GBenign/Likely benign
Select item 369249	NM_001291911.1(MC2R):c.-129+92T>C	MC2R	Single nucleotide variant (intron variant)	Glucocorticoid Deficiency	GLikely benign
Select item 369250	NM_001291911.1(MC2R):c.-129+87C>T	MC2R	Single nucleotide variant (intron variant)	Glucocorticoid Deficiency	GLikely benign
Select item 339674	NM_178817.4(MRAP):c.-40AG[3]	MRAP	Microsatellite (5 prime UTR variant)	Glucocorticoid Deficiency	GUncertain significance

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Items: 29