"PreventionGenetics, part of Exact Sciences"[submitter] AND "MC4R"[gen - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 586139	NM_005912.3(MC4R):c.983T>A (p.Leu328Ter)	MC4R (L328*)	Single nucleotide variant (nonsense)	not provided +1 more	GUncertain significance
Select item 211443	NM_005912.3(MC4R):c.972C>T (p.Gly324=)	MC4R	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 3043441	NM_005912.3(MC4R):c.910C>T (p.Leu304Phe)	MC4R (L304F)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 2637013	NM_005912.3(MC4R):c.905A>T (p.Tyr302Phe)	MC4R (Y302F)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 2584829	NM_005912.3(MC4R):c.899T>C (p.Leu300Pro)	MC4R (L300P)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +1 more	GUncertain significance
Select item 36488	NM_005912.3(MC4R):c.896C>A (p.Pro299His)	MC4R (P299H)	Single nucleotide variant (missense variant)	Obesity +4 more	GConflicting classifications of pathogenicity
Select item 3031270	NM_005912.3(MC4R):c.891C>T (p.Ile297=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 3029040	NM_005912.3(MC4R):c.842T>C (p.Met281Thr)	MC4R (M281T)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 36487	NM_005912.3(MC4R):c.835_836dup (p.Phe280fs)	MC4R (F280fs)	Microsatellite (frameshift variant)	Obesity due to melanocortin 4 receptor deficiency +4 more	GPathogenic/Likely pathogenic
Select item 435827	NM_005912.3(MC4R):c.827A>G (p.Tyr276Cys)	MC4R (Y276C)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +2 more	GUncertain significance
Select item 14324	NM_005912.3(MC4R):c.821A>G (p.Asn274Ser)	MC4R (N274S)	Single nucleotide variant (missense variant)	Obesity +2 more	GConflicting classifications of pathogenicity
Select item 327712	NM_005912.3(MC4R):c.776C>T (p.Ala259Val)	MC4R (A259V)	Single nucleotide variant (missense variant)	Obesity +1 more	GUncertain significance
Select item 435828	NM_005912.3(MC4R):c.750_751del (p.Ile251fs)	MC4R (I251fs)	Deletion (frameshift variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +4 more	GPathogenic/Likely pathogenic
Select item 218329	NM_005912.3(MC4R):c.751A>C (p.Ile251Leu)	MC4R (I251L)	Single nucleotide variant (missense variant)	Monogenic diabetes +5 more	GBenign/Likely benign
Select item 549551	NM_005912.3(MC4R):c.749T>A (p.Leu250Gln)	MC4R (L250Q)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GConflicting classifications of pathogenicity
Select item 917432	NM_005912.3(MC4R):c.719A>G (p.Asn240Ser)	MC4R (N240S)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +3 more	GUncertain significance
Select item 3046210	NM_005912.3(MC4R):c.706C>T (p.Arg236Cys)	MC4R (R236C)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3050050	NM_005912.3(MC4R):c.693C>T (p.Gly231=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 3032245	NM_005912.3(MC4R):c.690C>T (p.Pro230=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 3045769	NM_005912.3(MC4R):c.681T>C (p.Ala227=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 14316	NM_005912.3(MC4R):c.631_634del (p.Leu211fs)	MC4R (L211fs)	Microsatellite (frameshift variant)	MC4R-related disorder	GPathogenic
Select item 3034953	NM_005912.3(MC4R):c.619C>G (p.Leu207Val)	MC4R (L207V)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 36484	NM_005912.3(MC4R):c.606C>A (p.Phe202Leu)	MC4R (F202L)	Single nucleotide variant (missense variant)	Obesity +5 more	GConflicting classifications of pathogenicity
Select item 259890	NM_005912.3(MC4R):c.594C>T (p.Ile198=)	MC4R	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3030598	NM_005912.3(MC4R):c.567T>C (p.Asp189=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 14330	NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)	MC4R (A175T)	Single nucleotide variant (missense variant)	Obesity +4 more	GConflicting classifications of pathogenicity
Select item 14323	NM_005912.3(MC4R):c.508A>G (p.Ile170Val)	MC4R (I170V)	Single nucleotide variant (missense variant)	MC4R-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 1284736	NM_005912.3(MC4R):c.493C>T (p.Arg165Trp)	MC4R (R165W)	Single nucleotide variant (missense variant)	Obesity due to melanocortin 4 receptor deficiency +3 more	GPathogenic/Likely pathogenic
Select item 749502	NM_005912.3(MC4R):c.468G>A (p.Gln156=)	MC4R	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 2716611	NM_005912.3(MC4R):c.467A>C (p.Gln156Pro)	MC4R (Q156P)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 435829	NM_005912.3(MC4R):c.449C>T (p.Thr150Ile)	MC4R (T150I)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +4 more	GLikely pathogenic
Select item 1060589	NM_005912.3(MC4R):c.418del (p.Leu140fs)	MC4R (L140fs)	Deletion (frameshift variant)	MC4R-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 1712021	NM_005912.3(MC4R):c.410T>C (p.Ile137Thr)	MC4R (I137T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2629264	NM_005912.3(MC4R):c.403G>C (p.Ala135Pro)	MC4R (A135P)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 2634260	NM_005912.3(MC4R):c.343_344del (p.Gln115fs)	MC4R (Q115fs)	Microsatellite (frameshift variant)	MC4R-related disorder	GPathogenic
Select item 218330	NM_005912.3(MC4R):c.307G>A (p.Val103Ile)	MC4R (V103I)	Single nucleotide variant (missense variant)	Obesity +3 more	GBenign
Select item 2634476	NM_005912.3(MC4R):c.305T>C (p.Ile102Thr)	MC4R (I102T)	Single nucleotide variant (missense variant)	MC4R-related disorder	GLikely pathogenic
Select item 435830	NM_005912.3(MC4R):c.239A>G (p.Tyr80Cys)	MC4R (Y80C)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 2078431	NM_005912.3(MC4R):c.227A>G (p.His76Arg)	MC4R (H76R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 435831	NM_005912.3(MC4R):c.181G>A (p.Glu61Lys)	MC4R (E61K)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +4 more	GPathogenic/Likely pathogenic
Select item 3048892	NM_005912.3(MC4R):c.129A>G (p.Gln43=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 2634239	NM_005912.3(MC4R):c.89C>T (p.Ser30Phe)	MC4R (S30F)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 917433	NM_005912.3(MC4R):c.31A>G (p.Thr11Ala)	MC4R (T11A)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +3 more	GUncertain significance
Select item 3046038	NM_005912.3(MC4R):c.30C>T (p.His10=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 3032659	NM_005912.3(MC4R):c.24G>A (p.Gly8=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 2628745	NM_005912.3(MC4R):c.20G>A (p.Arg7His)	MC4R (R7H)	Single nucleotide variant (missense variant)	MC4R-related disorder +1 more	GUncertain significance
Select item 888709	NM_005912.3(MC4R):c.15C>T (p.Thr5=)	MC4R	Single nucleotide variant (synonymous variant)	Obesity +1 more	GUncertain significance
Select item 2636510	NM_005912.3(MC4R):c.11C>T (p.Ser4Phe)	MC4R (S4F)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance

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Items: 48