ClinVar for Gene (Select 4160) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3340164	NM_005912.3(MC4R):c.907G>C (p.Ala303Pro)	MC4R (A303P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3242797	NC_000018.9:g.(?_58038584)_(58040587_?)del	MC4R	Deletion	not provided	GPathogenic
Select item 3236583	NM_005912.3(MC4R):c.283G>A (p.Val95Ile)	MC4R (V95I)	Single nucleotide variant (missense variant)	Inherited obesity	GUncertain significance
Select item 3124154	NM_005912.3(MC4R):c.251G>C (p.Cys84Ser)	MC4R (C84S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3076077	NM_005912.3(MC4R):c.706del (p.Arg236fs)	MC4R (R236fs)	Deletion (frameshift variant)	Obesity due to melanocortin 4 receptor deficiency	GLikely pathogenic
Select item 3076076	NM_005912.3(MC4R):c.906T>G (p.Tyr302Ter)	MC4R (Y302*)	Single nucleotide variant (nonsense)	Obesity due to melanocortin 4 receptor deficiency	GLikely pathogenic
Select item 3076075	NM_005912.3(MC4R):c.346_347del (p.Ser116fs)	MC4R (S116fs)	Microsatellite (frameshift variant)	Obesity due to melanocortin 4 receptor deficiency	GPathogenic
Select item 3063544	GRCh37/hg19 18q21.31-23(chr18:55363398-78014123)x1	ADNP2, ALPK2 +72 more	Copy number loss	not specified	GPathogenic
Select item 3062374	GRCh37/hg19 18q21.2-23(chr18:48766173-78014123)x1	ADNP2, ALPK2 +90 more	Copy number loss	not specified	GPathogenic
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 3048892	NM_005912.3(MC4R):c.129A>G (p.Gln43=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
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 3046038	NM_005912.3(MC4R):c.30C>T (p.His10=)	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 3043441	NM_005912.3(MC4R):c.910C>T (p.Leu304Phe)	MC4R (L304F)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
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 3032659	NM_005912.3(MC4R):c.24G>A (p.Gly8=)	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 3031270	NM_005912.3(MC4R):c.891C>T (p.Ile297=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
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 3029040	NM_005912.3(MC4R):c.842T>C (p.Met281Thr)	MC4R (M281T)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 2874546	NM_005912.3(MC4R):c.530G>T (p.Cys177Phe)	MC4R (C177F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2798900	NM_005912.3(MC4R):c.862C>T (p.Leu288Phe)	MC4R (L288F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2685623	GRCh37/hg19 18q21.32(chr18:57782469-58048725)x1	MC4R	Copy number loss	not provided	GUncertain significance
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 2663185	NM_005912.3(MC4R):c.233C>T (p.Pro78Leu)	MC4R (P78L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2648770	NM_005912.3(MC4R):c.297A>G (p.Ser99=)	MC4R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 2636510	NM_005912.3(MC4R):c.11C>T (p.Ser4Phe)	MC4R (S4F)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
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 2634260	NM_005912.3(MC4R):c.343_344del (p.Gln115fs)	MC4R (Q115fs)	Microsatellite (frameshift variant)	MC4R-related disorder	GPathogenic
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 2629264	NM_005912.3(MC4R):c.403G>C (p.Ala135Pro)	MC4R (A135P)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 2628745	NM_005912.3(MC4R):c.20G>A (p.Arg7His)	MC4R (R7H)	Single nucleotide variant (missense variant)	not provided +1 more	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 2572709	NM_005912.3(MC4R):c.815C>T (p.Pro272Leu)	MC4R (P272L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2504957	NM_005912.3(MC4R):c.727G>A (p.Gly243Arg)	MC4R (G243R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2485997	NM_005912.3(MC4R):c.487G>A (p.Val163Ile)	MC4R (V163I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425868	NC_000018.9:g.(?_55217944)_(58040587_?)del	ALPK2, ATP8B1 +14 more	Deletion	Isolated microphthalmia 3	GPathogenic
Select item 2425645	NC_000018.9:g.(?_55217944)_(58039582_?)dup	ALPK2, ATP8B1 +14 more	Duplication	not provided	GUncertain significance
Select item 2413010	NM_005912.3(MC4R):c.461C>T (p.Ala154Val)	MC4R (A154V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2265224	NM_005912.3(MC4R):c.422T>G (p.Leu141Arg)	MC4R (L141R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2096100	NM_005912.3(MC4R):c.631C>G (p.Leu211Val)	MC4R (L211V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2088159	NM_005912.3(MC4R):c.419T>C (p.Leu140Pro)	MC4R (L140P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2078431	NM_005912.3(MC4R):c.227A>G (p.His76Arg)	MC4R (H76R)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 1919464	NM_005912.3(MC4R):c.873_875del (p.Ile291del)	MC4R (I291del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1808639	GRCh37/hg19 18q21.2-23(chr18:53624405-78014123)x1	ADNP2, ALPK2 +80 more	Copy number loss	not provided	GPathogenic
Select item 1807845	GRCh37/hg19 18q21.32(chr18:57894993-58039760)x1	MC4R	Copy number loss	not provided	GLikely pathogenic
Select item 1804514	NM_005912.3(MC4R):c.935C>G (p.Thr312Ser)	MC4R (T312S)	Single nucleotide variant (missense variant)	not provided	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 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 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 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1693543	NM_005912.3(MC4R):c.272T>G (p.Met91Arg)	MC4R (M91R)	Single nucleotide variant (missense variant)	Obesity	GLikely pathogenic
Select item 1693542	NM_005912.3(MC4R):c.127C>A (p.Gln43Lys)	MC4R (Q43K)	Single nucleotide variant (missense variant)	Obesity	GLikely pathogenic
Select item 1604584	NM_005912.3(MC4R):c.636T>C (p.Tyr212=)	MC4R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1526627	GRCh37/hg19 18q21.2-23(chr18:53309113-78014123)	SERPINB3, ZCCHC2 +81 more	Copy number loss	not specified	GPathogenic
Select item 1526624	GRCh37/hg19 18q21.2-23(chr18:53100584-78014123)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526623	GRCh37/hg19 18q21.2-23(chr18:52837852-77989426)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526622	GRCh37/hg19 18q21.2-23(chr18:52675201-78014123)	ADNP2, ALPK2 +82 more	Copy number loss	not specified	GPathogenic
Select item 1526620	GRCh37/hg19 18q21.2-22.1(chr18:50739715-63705988)	ALPK2, ATP8B1 +52 more	Copy number loss	not specified	GPathogenic
Select item 1526617	GRCh37/hg19 18q21.1-23(chr18:47656799-78014123)	MAPK4, MBD1 +101 more	Copy number loss	not specified	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	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 1460199	NC_000018.9:g.(?_55217944)_(58039582_?)del	PMAIP1, RAX +14 more	Deletion	not provided	GUncertain significance
Select item 1411933	NC_000018.9:g.(?_55217944)_(58040587_?)dup	CPLX4, ALPK2 +14 more	Duplication	not provided	GUncertain significance
Select item 1356151	NM_005912.3(MC4R):c.235A>G (p.Met79Val)	MC4R (M79V)	Single nucleotide variant (missense variant)	not provided	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 1328154	NM_005912.3(MC4R):c.549G>C (p.Leu183Phe)	MC4R (L183F)	Single nucleotide variant (missense variant)	Inherited obesity	GUncertain significance
Select item 1328028	NM_005912.3(MC4R):c.240C>A (p.Tyr80Ter)	MC4R (Y80*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 1321145	NM_005912.3(MC4R):c.763G>A (p.Val255Ile)	MC4R (V255I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1180529	GRCh37/hg19 18q11.2-23(chr18:23626739-78014976)x3	MAPRE2, TSHZ1 +176 more	Copy number gain	not provided	GPathogenic
Select item 1176065	GRCh37/hg19 18q21.31-23(chr18:54285235-77960815)x1	BOD1L2, C18orf63 +80 more	Copy number loss	not provided	GPathogenic
Select item 1175203	NM_005912.3(MC4R):c.*252A>G	MC4R	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1060589	NM_005912.3(MC4R):c.418del (p.Leu140fs)	MC4R (L140fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1047896	GRCh37/hg19 18q21.2-23(chr18:51925586-78010032)	LINC01415, LINC01879 +85 more	Copy number gain	Global developmental delay	GPathogenic
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 945179	NM_005912.3(MC4R):c.902T>C (p.Ile301Thr)	MC4R (I301T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 930151	NM_005912.3(MC4R):c.585C>G (p.Ile195Met)	MC4R (I195M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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)	MC4R-related disorder +3 more	GUncertain significance
Select item 917432	NM_005912.3(MC4R):c.719A>G (p.Asn240Ser)	MC4R (N240S)	Single nucleotide variant (missense variant)	MC4R-related disorder +3 more	GUncertain significance
Select item 892156	NM_005912.3(MC4R):c.373A>G (p.Ile125Val)	MC4R (I125V)	Single nucleotide variant (missense variant)	Obesity	GUncertain significance
Select item 892155	NM_005912.3(MC4R):c.405A>C (p.Ala135=)	MC4R	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 892154	NM_005912.3(MC4R):c.534G>A (p.Thr178=)	MC4R	Single nucleotide variant (synonymous variant)	Obesity +1 more	GConflicting classifications of pathogenicity

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