"Fulgent Genetics, Fulgent Genetics"[submitter] AND "MC4R"[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 14331	NM_005912.3(MC4R):c.947T>G (p.Ile316Ser)	MC4R (I316S)	Single nucleotide variant (missense variant)	Obesity due to melanocortin 4 receptor deficiency +2 more	GPathogenic/Likely pathogenic
Select item 524206	NM_005912.3(MC4R):c.914G>A (p.Arg305Gln)	MC4R (R305Q)	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)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +3 more	GConflicting classifications of pathogenicity
Select item 549550	NM_005912.3(MC4R):c.883T>C (p.Ser295Pro)	MC4R (S295P)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +1 more	GUncertain significance
Select item 36487	NM_005912.3(MC4R):c.835_836dup (p.Phe280fs)	MC4R (F280fs)	Microsatellite (frameshift variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +3 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 +1 more	GUncertain significance
Select item 890919	NM_005912.3(MC4R):c.815C>G (p.Pro272Arg)	MC4R (P272R)	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)	Obesity +3 more	GPathogenic/Likely pathogenic
Select item 218329	NM_005912.3(MC4R):c.751A>C (p.Ile251Leu)	MC4R (I251L)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +4 more	GBenign/Likely benign
Select item 917432	NM_005912.3(MC4R):c.719A>G (p.Asn240Ser)	MC4R (N240S)	Single nucleotide variant (missense variant)	Monogenic diabetes +2 more	GUncertain significance
Select item 995181	NM_005912.3(MC4R):c.691G>A (p.Gly231Ser)	MC4R (G231S)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +1 more	GUncertain significance
Select item 14330	NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)	MC4R (A175T)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 562224	NM_005912.3(MC4R):c.496G>A (p.Val166Ile)	MC4R (V166I)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +1 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 +2 more	GPathogenic/Likely pathogenic
Select item 562356	NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)	MC4R (Q156*)	Single nucleotide variant (nonsense)	Monogenic diabetes +3 more	GPathogenic/Likely pathogenic
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 +3 more	GConflicting classifications of pathogenicity
Select item 1301992	NM_005912.3(MC4R):c.268G>A (p.Asp90Asn)	MC4R (D90N)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
Select item 435830	NM_005912.3(MC4R):c.239A>G (p.Tyr80Cys)	MC4R (Y80C)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +2 more	GUncertain significance
Select item 14318	NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter)	MC4R (Y35*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic
Select item 1500886	NM_005912.3(MC4R):c.53G>T (p.Arg18Leu)	MC4R (R18L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 917433	NM_005912.3(MC4R):c.31A>G (p.Thr11Ala)	MC4R (T11A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 917434	NM_005912.3(MC4R):c.14C>A (p.Thr5Asn)	MC4R (T5N)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +1 more	GUncertain significance
Select item 888710	NM_005912.3(MC4R):c.-59G>A	MC4R	Single nucleotide variant (5 prime UTR variant)	Obesity +1 more	GUncertain significance
Select item 890414	NM_005912.3(MC4R):c.-121G>A	MC4R	Single nucleotide variant (5 prime UTR variant)	Obesity +1 more	GUncertain significance

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Items: 24