ClinVar for MedGen (Select 885551) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2686047	NM_000529.2(MC2R):c.107T>A (p.Ile36Asn)	MC2R (I36N)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 2441862	NM_000529.2(MC2R):c.569T>G (p.Leu190Arg)	MC2R (L190R)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 2441760	NM_000529.2(MC2R):c.349T>C (p.Ser117Pro)	MC2R (S117P)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 1691320	NM_000529.2(MC2R):c.681_688dup (p.Phe230fs)	MC2R (F230fs)	Duplication (frameshift variant)	Glucocorticoid deficiency 1	GPathogenic
Select item 1285296	NM_000529.2(MC2R):c.676G>C (p.Gly226Arg)	MC2R (G226R)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 1	GLikely pathogenic
Select item 891785	NM_000529.2(MC2R):c.666C>G (p.Thr222=)	MC2R	Single nucleotide variant (synonymous variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 891784	NM_000529.2(MC2R):c.808G>A (p.Val270Ile)	MC2R (V270I)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 1	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 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 891718	NM_000529.2(MC2R):c.*990A>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 891645	NM_000529.2(MC2R):c.*1856T>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
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 891539	NM_000529.2(MC2R):c.*117A>T	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GLikely benign
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 891537	NM_000529.2(MC2R):c.*366G>T	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	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 891460	NM_000529.2(MC2R):c.*1002T>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	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 891403	NM_000529.2(MC2R):c.*1917C>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
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 891401	NM_000529.2(MC2R):c.*2224A>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GLikely benign
Select item 890043	NM_000529.2(MC2R):c.-90T>C	MC2R	Single nucleotide variant (5 prime UTR variant)	Glucocorticoid deficiency 1	GBenign
Select item 890042	NM_000529.2(MC2R):c.-48T>C	MC2R	Single nucleotide variant (5 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 890041	NM_000529.2(MC2R):c.21G>A (p.Ser7=)	MC2R	Single nucleotide variant (synonymous variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 889971	NM_000529.2(MC2R):c.*491A>G	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GBenign
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 889912	NM_000529.2(MC2R):c.*1039G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	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 889910	NM_000529.2(MC2R):c.*1068A>G	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
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 889853	NM_000529.2(MC2R):c.*2427T>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	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 889352	NM_000529.2(MC2R):c.133G>A (p.Val45Ile)	MC2R (V45I)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 1 +1 more	GUncertain significance
Select item 889351	NM_000529.2(MC2R):c.377C>T (p.Ala126Val)	MC2R (A126V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 889350	NM_000529.2(MC2R):c.403G>A (p.Ala135Thr)	MC2R (A135T)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 889349	NM_000529.2(MC2R):c.409C>A (p.Arg137=)	MC2R	Single nucleotide variant (synonymous variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 889348	NM_000529.2(MC2R):c.410G>A (p.Arg137Gln)	MC2R (R137Q)	Single nucleotide variant (missense 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 889290	NM_000529.2(MC2R):c.*673C>T	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 889233	NM_000529.2(MC2R):c.*1330A>G	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GBenign
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 773878	NM_000529.2(MC2R):c.754G>A (p.Ala252Thr)	MC2R (A252T)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 726119	NM_000529.2(MC2R):c.429C>T (p.Thr143=)	MC2R	Single nucleotide variant (synonymous variant)	Glucocorticoid deficiency 1 +1 more	GConflicting classifications of pathogenicity
Select item 631794	NM_000529.2(MC2R):c.437G>A (p.Arg146His)	MC2R (R146H)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 1	GLikely pathogenic
Select item 492868	NM_000529.2(MC2R):c.560del (p.Val187fs)	MC2R (V187fs)	Deletion (frameshift variant)	Glucocorticoid deficiency 1	GPathogenic
Select item 492864	NM_000529.2(MC2R):c.80C>G (p.Pro27Arg)	MC2R (P27R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 444068	NM_001379228.1(MRAP):c.106+1del	MRAP	Deletion (splice donor variant +1 more)	Glucocorticoid deficiency 1 +1 more	GPathogenic
Select item 444067	NM_001379228.1(MRAP):c.1A>G (p.Met1Val)	MRAP (M1V)	Single nucleotide variant (missense variant +2 more)	Glucocorticoid deficiency 1	GPathogenic
Select item 444066	NM_000529.2(MC2R):c.424G>T (p.Val142Leu)	MC2R (V142L)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 1	GPathogenic
Select item 444065	NM_000529.2(MC2R):c.459dup (p.Ile154fs)	MC2R (I154fs)	Duplication (frameshift variant)	Glucocorticoid deficiency 1	GPathogenic
Select item 444064	NM_000529.2(MC2R):c.674T>G (p.Leu225Arg)	MC2R (L225R)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 1	GPathogenic
Select item 444063	NM_000529.2(MC2R):c.702del (p.Phe235fs)	MC2R (F235fs)	Deletion (frameshift variant)	Glucocorticoid deficiency 1	GPathogenic
Select item 326201	NM_000529.2(MC2R):c.-129+10T>C	MC2R	Single nucleotide variant (intron variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326200	NM_000529.2(MC2R):c.-117A>T	MC2R	Single nucleotide variant (5 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326199	NM_000529.2(MC2R):c.-94G>A	MC2R	Single nucleotide variant (5 prime UTR variant)	Glucocorticoid deficiency 1	GBenign
Select item 326198	NM_000529.2(MC2R):c.-44G>C	MC2R	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 326197	NM_000529.2(MC2R):c.98C>T (p.Thr33Ile)	MC2R (T33I)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 1	GLikely benign
Select item 326196	NM_000529.2(MC2R):c.435C>T (p.Arg145=)	MC2R	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 326195	NM_000529.2(MC2R):c.524T>A (p.Val175Glu)	MC2R (V175E)	Single nucleotide variant (missense variant)	Glucocorticoid deficiency 1	GUncertain significance
Select item 326194	NM_000529.2(MC2R):c.537G>A (p.Thr179=)	MC2R	Single nucleotide variant (synonymous variant)	Glucocorticoid deficiency 1 +1 more	GConflicting classifications of pathogenicity
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 326192	NM_000529.2(MC2R):c.795C>T (p.Ile265=)	MC2R	Single nucleotide variant (synonymous variant)	Glucocorticoid deficiency 1 +1 more	GConflicting classifications of pathogenicity
Select item 326191	NM_000529.2(MC2R):c.833T>G (p.Phe278Cys)	MC2R (F278C)	Single nucleotide variant (missense 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 326189	NM_000529.2(MC2R):c.*58G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 326187	NM_000529.2(MC2R):c.*216G>A	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 326185	NM_000529.2(MC2R):c.*390A>G	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
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 326182	NM_000529.2(MC2R):c.*427G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GLikely benign
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 326180	NM_000529.2(MC2R):c.*470G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
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 326178	NM_000529.2(MC2R):c.*535G>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GBenign
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 326176	NM_000529.2(MC2R):c.*608A>G	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 326174	NM_000529.2(MC2R):c.*685G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 326172	NM_000529.2(MC2R):c.*848A>T	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
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 326170	NM_000529.2(MC2R):c.*880C>T	MC2R	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
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 326166	NM_000529.2(MC2R):c.*996A>T	MC2R	Single nucleotide variant (3 prime UTR variant)	not provided +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 326160	NM_000529.2(MC2R):c.*1000T>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 326155	NM_000529.2(MC2R):c.*1012T>A	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 326146	NM_000529.2(MC2R):c.*1092G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
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 326144	NM_000529.2(MC2R):c.*1265A>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GUncertain significance
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 326141	NM_000529.2(MC2R):c.*1452A>G	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	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 326138	NM_000529.2(MC2R):c.*1604G>C	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1 +1 more	GBenign
Select item 326137	NM_000529.2(MC2R):c.*1619G>A	MC2R	Single nucleotide variant (3 prime UTR variant)	Glucocorticoid deficiency 1	GLikely benign

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