ClinVar for Gene (Select 4160) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3358821	NM_005912.3(MC4R):c.70C>A (p.His24Asn)	MC4R (H24N)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3358639	NM_005912.3(MC4R):c.657C>T (p.Ala219=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 3358483	NM_005912.3(MC4R):c.-32A>G	MC4R	Single nucleotide variant (5 prime UTR variant)	MC4R-related disorder	GLikely benign
Select item 3358432	NM_005912.3(MC4R):c.949A>G (p.Ile317Val)	MC4R (I317V)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3358240	NM_005912.3(MC4R):c.*9A>G	MC4R	Single nucleotide variant (3 prime UTR variant)	MC4R-related disorder	GLikely benign
Select item 3357800	NM_005912.3(MC4R):c.215A>G (p.Asn72Ser)	MC4R (N72S)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3357505	NM_005912.3(MC4R):c.106T>A (p.Ser36Thr)	MC4R (S36T)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3357414	NM_005912.3(MC4R):c.752T>C (p.Ile251Thr)	MC4R (I251T)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3356881	NM_005912.3(MC4R):c.473A>G (p.His158Arg)	MC4R (H158R)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3356641	NM_005912.3(MC4R):c.459T>C (p.Tyr153=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 3356357	NM_005912.3(MC4R):c.179T>C (p.Leu60Ser)	MC4R (L60S)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3356280	NM_005912.3(MC4R):c.807C>T (p.Ile269=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 3356232	NM_005912.3(MC4R):c.849C>T (p.His283=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 3356222	NM_005912.3(MC4R):c.-22A>T	MC4R	Single nucleotide variant (5 prime UTR variant)	MC4R-related disorder	GLikely benign
Select item 3356062	NM_005912.3(MC4R):c.660G>C (p.Arg220Ser)	MC4R (R220S)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3355761	NM_005912.3(MC4R):c.453C>T (p.Ile151=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 3355219	NM_005912.3(MC4R):c.598A>G (p.Met200Val)	MC4R (M200V)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3354892	NM_005912.3(MC4R):c.149T>G (p.Val50Gly)	MC4R (V50G)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3354862	NM_005912.3(MC4R):c.375T>A (p.Ile125=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 3354848	NM_005912.3(MC4R):c.770G>C (p.Cys257Ser)	MC4R (C257S)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3354801	NM_005912.3(MC4R):c.48dup (p.Asn17fs)	MC4R (N17fs)	Duplication (frameshift variant)	MC4R-related disorder	GPathogenic
Select item 3354105	NM_005912.3(MC4R):c.162G>A (p.Leu54=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 3353959	NM_005912.3(MC4R):c.69G>A (p.Leu23=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 3353938	NM_005912.3(MC4R):c.404C>T (p.Ala135Val)	MC4R (A135V)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3353693	NM_005912.3(MC4R):c.206T>C (p.Ile69Thr)	MC4R (I69T)	Single nucleotide variant (missense variant)	MC4R-related disorder	GLikely pathogenic
Select item 3353481	NM_005912.3(MC4R):c.968G>T (p.Gly323Val)	MC4R (G323V)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3353099	NM_005912.3(MC4R):c.890T>C (p.Ile297Thr)	MC4R (I297T)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3352809	NM_005912.3(MC4R):c.834G>A (p.Val278=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 3352329	NM_005912.3(MC4R):c.644T>G (p.Met215Arg)	MC4R (M215R)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3352153	NM_005912.3(MC4R):c.731C>T (p.Ala244Val)	MC4R (A244V)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3351958	NM_005912.3(MC4R):c.892G>A (p.Asp298Asn)	MC4R (D298N)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3351639	NM_005912.3(MC4R):c.594C>A (p.Ile198=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 3351577	NM_005912.3(MC4R):c.173G>A (p.Ser58Asn)	MC4R (S58N)	Single nucleotide variant (missense variant)	MC4R-related disorder	GLikely pathogenic
Select item 3351267	NM_005912.3(MC4R):c.917G>A (p.Ser306Asn)	MC4R (S306N)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3351092	NM_005912.3(MC4R):c.583A>G (p.Ile195Val)	MC4R (I195V)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3351062	NM_005912.3(MC4R):c.117G>A (p.Gly39=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 3350943	NM_005912.3(MC4R):c.563C>T (p.Ser188Leu)	MC4R (S188L)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3350589	NM_005912.3(MC4R):c.272T>A (p.Met91Lys)	MC4R (M91K)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3350327	NM_005912.3(MC4R):c.923A>T (p.Glu308Val)	MC4R (E308V)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3350114	NM_005912.3(MC4R):c.860A>G (p.Tyr287Cys)	MC4R (Y287C)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3350001	NM_005912.3(MC4R):c.94G>A (p.Gly32Arg)	MC4R (G32R)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3349535	NM_005912.3(MC4R):c.107C>G (p.Ser36Cys)	MC4R (S36C)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3348912	NM_005912.3(MC4R):c.379T>C (p.Ser127Pro)	MC4R (S127P)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3348841	NM_005912.3(MC4R):c.571A>T (p.Ser191Cys)	MC4R (S191C)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3348555	NM_005912.3(MC4R):c.731C>A (p.Ala244Glu)	MC4R (A244E)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3348422	NM_005912.3(MC4R):c.203C>T (p.Ala68Val)	MC4R (A68V)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3348271	NM_005912.3(MC4R):c.536T>A (p.Val179Asp)	MC4R (V179D)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3348253	NM_005912.3(MC4R):c.1A>G (p.Met1Val)	MC4R (M1V)	Single nucleotide variant (missense variant +1 more)	MC4R-related disorder	GUncertain significance
Select item 3347981	NM_005912.3(MC4R):c.597_599del (p.Met200del)	MC4R (M200del)	Deletion (inframe_deletion)	MC4R-related disorder	GUncertain significance
Select item 3347838	NM_005912.3(MC4R):c.857T>C (p.Leu286Ser)	MC4R (L286S)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3347719	NM_005912.3(MC4R):c.985T>C (p.Ser329Pro)	MC4R (S329P)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3347685	NM_005912.3(MC4R):c.59del (p.Ser20fs)	MC4R (S20fs)	Deletion (frameshift variant)	MC4R-related disorder	GLikely pathogenic
Select item 3347563	NM_005912.3(MC4R):c.452T>C (p.Ile151Thr)	MC4R (I151T)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3346909	NM_005912.3(MC4R):c.608C>A (p.Thr203Asn)	MC4R (T203N)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3346619	NM_005912.3(MC4R):c.103T>C (p.Tyr35His)	MC4R (Y35H)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3346359	NM_005912.3(MC4R):c.941A>C (p.Lys314Thr)	MC4R (K314T)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3345867	NM_005912.3(MC4R):c.233C>G (p.Pro78Arg)	MC4R (P78R)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3345548	NM_005912.3(MC4R):c.37C>T (p.Leu13=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 3345001	NM_005912.3(MC4R):c.608C>T (p.Thr203Ile)	MC4R (T203I)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3344818	NM_005912.3(MC4R):c.226C>T (p.His76Tyr)	MC4R (H76Y)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3344645	NM_005912.3(MC4R):c.757G>T (p.Val253Phe)	MC4R (V253F)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 3344496	NM_005912.3(MC4R):c.873C>T (p.Ile291=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
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	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	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

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