ClinVar for MedGen (Select 1674972) - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664018	NM_005912.3(MC4R):c.436G>A (p.Asp146Asn)	MC4R (D146N)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	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 2584827	NM_005912.3(MC4R):c.633_636del (p.Tyr212fs)	MC4R (Y212fs)	Deletion (frameshift variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GUncertain significance
Select item 2580312	GRCh37/hg19 16p11.2(chr16:29511270-30243006)x1	ALDOA, ASPHD1 +28 more	Copy number loss	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
Select item 2502271	NM_005912.3(MC4R):c.973C>A (p.Leu325Ile)	MC4R (L325I)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GUncertain significance
Select item 1803919	NM_005912.3(MC4R):c.221A>T (p.Asn74Ile)	MC4R (N74I)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GUncertain significance
Select item 1803912	NM_005912.3(MC4R):c.895C>T (p.Pro299Ser)	MC4R (P299S)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GUncertain significance
Select item 1803832	NM_005912.3(MC4R):c.171del (p.Ser58fs)	MC4R (S58fs)	Deletion (frameshift variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
Select item 1709503	NM_005912.3(MC4R):c.754G>A (p.Gly252Ser)	MC4R (G252S)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +1 more	GUncertain significance
Select item 1705372	NM_005912.3(MC4R):c.835T>C (p.Cys279Arg)	MC4R (C279R)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GUncertain significance
Select item 1500886	NM_005912.3(MC4R):c.53G>T (p.Arg18Leu)	MC4R (R18L)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +1 more	GUncertain significance
Select item 1339323	NM_005912.3(MC4R):c.437A>T (p.Asp146Val)	MC4R (D146V)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GUncertain significance
Select item 1339319	NM_005912.3(MC4R):c.258G>T (p.Leu86Phe)	MC4R (L86F)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GLikely pathogenic
Select item 1339317	NM_005912.3(MC4R):c.847C>T (p.His283Tyr)	MC4R (H283Y)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GUncertain significance
Select item 1323269	NM_005912.3(MC4R):c.831T>A (p.Cys277Ter)	MC4R (C277*)	Single nucleotide variant (nonsense)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
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 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 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 976326	NM_005912.3(MC4R):c.542G>A (p.Gly181Asp)	MC4R (G181D)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GLikely pathogenic
Select item 976250	NM_005912.3(MC4R):c.779C>A (p.Pro260Gln)	MC4R (P260Q)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GLikely pathogenic
Select item 976165	NM_005912.3(MC4R):c.407C>T (p.Ser136Phe)	MC4R (S136F)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
Select item 917498	NM_005912.3(MC4R):c.[105C>A;110A>T]	MC4R (Y35* +1 more)	Single nucleotide variant (nonsense +1 more)	Obesity	GPathogenic
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 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 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 890919	NM_005912.3(MC4R):c.815C>G (p.Pro272Arg)	MC4R (P272R)	Single nucleotide variant (missense 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
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 712327	NM_005912.3(MC4R):c.335C>T (p.Thr112Met)	MC4R (T112M)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +2 more	GConflicting classifications of pathogenicity
Select item 562356	NM_005912.3(MC4R):c.466C>T (p.Gln156Ter)	MC4R (Q156*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 562224	NM_005912.3(MC4R):c.496G>A (p.Val166Ile)	MC4R (V166I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 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 499550	NM_005912.3(MC4R):c.485C>T (p.Thr162Ile)	MC4R (T162I)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 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 435829	NM_005912.3(MC4R):c.449C>T (p.Thr150Ile)	MC4R (T150I)	Single nucleotide variant (missense variant)	not provided +4 more	GLikely pathogenic
Select item 435828	NM_005912.3(MC4R):c.750_751del (p.Ile251fs)	MC4R (I251fs)	Deletion (frameshift variant)	MC4R-related disorder +4 more	GPathogenic/Likely pathogenic
Select item 435827	NM_005912.3(MC4R):c.827A>G (p.Tyr276Cys)	MC4R (Y276C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 372803	NM_005912.3(MC4R):c.811T>C (p.Cys271Arg)	MC4R (C271R)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +1 more	GPathogenic/Likely pathogenic
Select item 327713	NM_005912.3(MC4R):c.494G>A (p.Arg165Gln)	MC4R (R165Q)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +3 more	GPathogenic/Likely pathogenic
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 218329	NM_005912.3(MC4R):c.751A>C (p.Ile251Leu)	MC4R (I251L)	Single nucleotide variant (missense variant)	MC4R-related disorder +5 more	GBenign/Likely benign
Select item 36488	NM_005912.3(MC4R):c.896C>A (p.Pro299His)	MC4R (P299H)	Single nucleotide variant (missense variant)	Obesity due to melanocortin 4 receptor deficiency +4 more	GConflicting classifications of pathogenicity
Select item 36487	NM_005912.3(MC4R):c.835_836dup (p.Phe280fs)	MC4R (F280fs)	Microsatellite (frameshift variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +4 more	GPathogenic/Likely pathogenic
Select item 36486	NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)	MC4R (I269N)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 14338	NM_005912.3(MC4R):c.656C>T (p.Ala219Val)	MC4R (A219V)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
Select item 14336	NM_005912.3(MC4R):c.380C>T (p.Ser127Leu)	MC4R (S127L)	Single nucleotide variant (missense variant)	Obesity +3 more	GConflicting classifications of pathogenicity
Select item 14335	NM_005912.3(MC4R):c.265_279del (p.Ala89_Val93del)	MC4R	Deletion (inframe_deletion)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
Select item 14334	NM_005912.3(MC4R):c.185A>G (p.Asn62Ser)	MC4R (N62S)	Single nucleotide variant (missense variant)	Obesity due to melanocortin 4 receptor deficiency	GLikely pathogenic
Select item 14333	NM_005912.3(MC4R):c.289A>G (p.Asn97Asp)	MC4R (N97D)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
Select item 14332	NM_005912.3(MC4R):c.861T>A (p.Tyr287Ter)	MC4R (Y287*)	Single nucleotide variant (nonsense)	Obesity due to melanocortin 4 receptor deficiency	GPathogenic
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 14330	NM_005912.3(MC4R):c.523G>A (p.Ala175Thr)	MC4R (A175T)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 14329	NM_005912.3(MC4R):c.812G>A (p.Cys271Tyr)	MC4R (C271Y)	Single nucleotide variant (missense variant)	Obesity due to melanocortin 4 receptor deficiency +1 more	GPathogenic
Select item 14328	NM_005912.3(MC4R):c.374_375inv (p.Ile125Lys)	MC4R	Inversion (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
Select item 14327	MC4R, 2-BP INS, 279GT	MC4R	Insertion	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
Select item 14325	MC4R, 1-BP INS, 112A	MC4R	Insertion	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
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 14323	NM_005912.3(MC4R):c.508A>G (p.Ile170Val)	MC4R (I170V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 14322	NM_005912.3(MC4R):c.305T>G (p.Ile102Ser)	MC4R (I102S)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
Select item 14321	NM_005912.3(MC4R):c.172A>T (p.Ser58Cys)	MC4R (S58C)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
Select item 14320	NM_005912.3(MC4R):c.148G>A (p.Val50Met)	MC4R (V50M)	Single nucleotide variant (missense variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
Select item 14319	NM_005912.2(MC4R):c.110A>T (p.Asp37Val)	MC4R (D37V)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 14318	NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter)	MC4R (Y35*)	Single nucleotide variant (nonsense)	Obesity due to melanocortin 4 receptor deficiency +3 more	GPathogenic
Select item 14317	NM_005912.3(MC4R):c.732_735dup (p.Thr246fs)	MC4R (T246fs)	Duplication (frameshift variant)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20	GPathogenic
Select item 14316	NM_005912.3(MC4R):c.631_634del (p.Leu211fs)	MC4R (L211fs)	Microsatellite (frameshift variant)	MC4R-related disorder	GPathogenic

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Items: 68