MC3R[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146596	GRCh38/hg38 20p13-q13.33(chr20:99557-64277321)x3	JPH2, KAT14 +2522 more	Copy number gain	See cases	GPathogenic
Select item 59218	GRCh38/hg38 20q13.12-13.33(chr20:44787704-64277321)x3	ABHD16B, ACOT8 +1024 more	Copy number gain	See cases	GPathogenic
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 155517	GRCh38/hg38 20q13.2-13.33(chr20:53236165-64284202)x3	LOC130066385, LOC130066386 +553 more	Copy number gain	See cases	GLikely pathogenic
Select item 152492	GRCh38/hg38 20q13.2-13.32(chr20:54594888-58190583)x1	AURKA, BMP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 146317	GRCh38/hg38 20q13.2-13.33(chr20:55630597-60941207)x3	LOC121627913, LOC121853014 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 148973	GRCh38/hg38 20q13.2-13.33(chr20:56198032-64277321)x3	LOC130066289, LOC130066290 +491 more	Copy number gain	See cases	GPathogenic
Select item 3347536	NM_019888.3(MC3R):c.8C>T (p.Ala3Val)	MC3R (A3V)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 2816572	NM_019888.3(MC3R):c.12G>A (p.Ser4=)	MC3R	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2634910	NM_019888.3(MC3R):c.25T>A (p.Ser9Thr)	MC3R (S9T)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 3356012	NM_019888.3(MC3R):c.26C>G (p.Ser9Cys)	MC3R (S9C)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 1708341	NM_019888.3(MC3R):c.37A>G (p.Thr13Ala)	MC3R (T13A)	Single nucleotide variant (missense variant)	See cases +1 more	GUncertain significance
Select item 3356278	NM_019888.3(MC3R):c.42G>A (p.Leu14=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 3355557	NM_019888.3(MC3R):c.45T>A (p.Pro15=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 3040303	NM_019888.3(MC3R):c.66A>G (p.Gln22=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 3347449	NM_019888.3(MC3R):c.72T>C (p.Pro24=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 2209943	NM_019888.3(MC3R):c.79A>C (p.Ser27Arg)	MC3R (S27R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3355886	NM_019888.3(MC3R):c.84C>A (p.Asn28Lys)	MC3R (N28K)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 2994865	NM_019888.3(MC3R):c.90C>A (p.Ser30Arg)	MC3R (S30R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3054828	NM_019888.3(MC3R):c.94A>T (p.Ser32Cys)	MC3R (S32C)	Single nucleotide variant (missense variant)	MC3R-related disorder	GLikely benign
Select item 3053336	NM_019888.3(MC3R):c.96C>T (p.Ser32=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 3352033	NM_019888.3(MC3R):c.110A>G (p.Gln37Arg)	MC3R (Q37R)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 2524204	NM_019888.3(MC3R):c.127G>A (p.Glu43Lys)	MC3R (E43K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1227705	NM_019888.3(MC3R):c.130G>A (p.Val44Ile)	MC3R (V44I)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1708436	NM_019888.3(MC3R):c.134T>C (p.Phe45Ser)	MC3R (F45S)	Single nucleotide variant (missense variant)	See cases	GUncertain significance
Select item 2182714	NM_019888.3(MC3R):c.137T>C (p.Leu46Pro)	MC3R (L46P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2292556	NM_019888.3(MC3R):c.139T>A (p.Ser47Thr)	MC3R (S47T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634244	NM_019888.3(MC3R):c.149T>C (p.Ile50Thr)	MC3R (I50T)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 2992659	NM_019888.3(MC3R):c.151G>T (p.Val51Phe)	MC3R (V51F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1693541	NM_019888.3(MC3R):c.151G>C (p.Val51Leu)	MC3R (V51L)	Single nucleotide variant (missense variant)	Obesity	GLikely benign
Select item 3344651	NM_019888.3(MC3R):c.152T>C (p.Val51Ala)	MC3R (V51A)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 2629350	NM_019888.3(MC3R):c.170T>C (p.Ile57Thr)	MC3R (I57T)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 2060833	NM_019888.3(MC3R):c.172C>T (p.Leu58=)	MC3R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634254	NM_019888.3(MC3R):c.187G>A (p.Val63Met)	MC3R (V63M)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 3352959	NM_019888.3(MC3R):c.204C>A (p.Asn68Lys)	MC3R (N68K)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 3356521	NM_019888.3(MC3R):c.216G>A (p.Pro72=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 3356531	NM_019888.3(MC3R):c.219G>A (p.Met73Ile)	MC3R (M73I)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 3350650	NM_019888.3(MC3R):c.259G>A (p.Val87Ile)	MC3R (V87I)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 2634143	NM_019888.3(MC3R):c.272A>G (p.Asn91Ser)	MC3R (N91S)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 3036447	NM_019888.3(MC3R):c.291G>A (p.Met97Ile)	MC3R (M97I)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 3036510	NM_019888.3(MC3R):c.316C>T (p.Leu106=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 3353530	NM_019888.3(MC3R):c.318G>C (p.Leu106=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 3352353	NM_019888.3(MC3R):c.350ACA[1] (p.Asn118del)	MC3R (N118del)	Microsatellite (inframe_deletion)	MC3R-related disorder	GUncertain significance
Select item 2901562	NM_019888.3(MC3R):c.360C>T (p.Phe120=)	MC3R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3355576	NM_019888.3(MC3R):c.361G>T (p.Asp121Tyr)	MC3R (D121Y)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 3029890	NM_019888.3(MC3R):c.378C>T (p.Ile126=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 3352390	NM_019888.3(MC3R):c.381C>T (p.Ser127=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 3344480	NM_019888.3(MC3R):c.392C>T (p.Ser131Phe)	MC3R (S131F)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 3045524	NM_019888.3(MC3R):c.393C>T (p.Ser131=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 3293583	NM_019888.3(MC3R):c.414C>G (p.Ile138Met)	MC3R (I138M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352839	NM_019888.3(MC3R):c.420C>T (p.Val140=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 2189470	NM_019888.3(MC3R):c.429C>T (p.Tyr143=)	MC3R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 782726	NM_019888.3(MC3R):c.429C>G (p.Tyr143Ter)	MC3R (Y143*)	Single nucleotide variant (nonsense)	not provided	GConflicting classifications of pathogenicity
Select item 14339	NM_019888.3(MC3R):c.437T>A (p.Ile146Asn)	MC3R (I146N)	Single nucleotide variant (missense variant)	OBESITY (BMIQ9), SUSCEPTIBILITY TO	Grisk factor
Select item 3344733	NM_019888.3(MC3R):c.442del (p.Tyr148fs)	MC3R (Y148fs)	Deletion (frameshift variant)	MC3R-related disorder	GUncertain significance
Select item 2058584	NM_019888.3(MC3R):c.444C>T (p.Tyr148=)	MC3R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910466	NM_019888.3(MC3R):c.446C>T (p.Ala149Val)	MC3R (A149V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3344545	NM_019888.3(MC3R):c.461G>T (p.Ser154Ile)	MC3R (S154I)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 2309128	NM_019888.3(MC3R):c.470C>A (p.Thr157Asn)	MC3R (T157N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2075840	NM_019888.3(MC3R):c.471C>A (p.Thr157=)	MC3R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3355299	NM_019888.3(MC3R):c.490T>C (p.Leu164=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 3352556	NM_019888.3(MC3R):c.503T>A (p.Ile168Asn)	MC3R (I168N)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 3356045	NM_019888.3(MC3R):c.516C>T (p.Cys172=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 3344873	NM_019888.3(MC3R):c.529G>A (p.Val177Met)	MC3R (V177M)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 3355282	NM_019888.3(MC3R):c.555C>T (p.Ser185=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 710283	NM_019888.3(MC3R):c.567T>A (p.Ile189=)	MC3R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2634086	NM_019888.3(MC3R):c.578T>A (p.Ile193Asn)	MC3R (I193N)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 3344068	NM_019888.3(MC3R):c.580A>C (p.Thr194Pro)	MC3R (T194P)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 3355352	NM_019888.3(MC3R):c.594C>T (p.Ala198=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 3354528	NM_019888.3(MC3R):c.620A>G (p.Tyr207Cys)	MC3R (Y207C)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 3358581	NM_019888.3(MC3R):c.625C>T (p.His209Tyr)	MC3R (H209Y)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 2628827	NM_019888.3(MC3R):c.634C>G (p.Leu212Val)	MC3R (L212V)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 3351614	NM_019888.3(MC3R):c.639T>C (p.Phe213=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 2882874	NM_019888.3(MC3R):c.639T>A (p.Phe213Leu)	MC3R (F213L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3346605	NM_019888.3(MC3R):c.642G>A (p.Ala214=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 3350822	NM_019888.3(MC3R):c.651C>T (p.His217=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 2737678	NM_019888.3(MC3R):c.652G>A (p.Val218Ile)	MC3R (V218I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2689407	NM_019888.3(MC3R):c.658C>G (p.Arg220Gly)	MC3R (R220G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1284525	NM_019888.3(MC3R):c.658C>A (p.Arg220Ser)	MC3R (R220S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3345139	NM_019888.3(MC3R):c.660C>T (p.Arg220=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 2629698	NM_019888.3(MC3R):c.668C>T (p.Ala223Val)	MC3R (A223V)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 3030318	NM_019888.3(MC3R):c.670C>T (p.Leu224=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 3346284	NM_019888.3(MC3R):c.671T>C (p.Leu224Pro)	MC3R (L224P)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 3357356	NM_019888.3(MC3R):c.687G>A (p.Gly229=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 2916703	NM_019888.3(MC3R):c.688G>A (p.Val230Met)	MC3R (V230M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3357614	NM_019888.3(MC3R):c.705C>T (p.His235=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 3042455	NM_019888.3(MC3R):c.713T>C (p.Met238Thr)	MC3R (M238T)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 3356578	NM_019888.3(MC3R):c.717G>A (p.Lys239=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 3355493	NM_019888.3(MC3R):c.718G>T (p.Gly240Trp)	MC3R (G240W)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 3046420	NM_019888.3(MC3R):c.718G>C (p.Gly240Arg)	MC3R (G240R)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 3358722	NM_019888.3(MC3R):c.747C>T (p.Gly249=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GUncertain significance
Select item 3350800	NM_019888.3(MC3R):c.747C>A (p.Gly249=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 3357429	NM_019888.3(MC3R):c.749T>G (p.Val250Gly)	MC3R (V250G)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 3345985	NM_019888.3(MC3R):c.765G>A (p.Trp255Ter)	MC3R (W255*)	Single nucleotide variant (nonsense)	MC3R-related disorder	GUncertain significance
Select item 2711872	NM_019888.3(MC3R):c.765G>C (p.Trp255Cys)	MC3R (W255C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3353794	NM_019888.3(MC3R):c.768C>G (p.Ala256=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 3355214	NM_019888.3(MC3R):c.771C>G (p.Pro257=)	MC3R	Single nucleotide variant (synonymous variant)	MC3R-related disorder	GLikely benign
Select item 2736972	NM_019888.3(MC3R):c.778C>G (p.Leu260Val)	MC3R (L260V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3351767	NM_019888.3(MC3R):c.784C>G (p.Leu262Val)	MC3R (L262V)	Single nucleotide variant (missense variant)	MC3R-related disorder	GUncertain significance
Select item 2826710	NM_019888.3(MC3R):c.807C>T (p.Pro269=)	MC3R	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance

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