MC4R[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 149674	GRCh38/hg38 18p11.32-q23(chr18:118760-80254946)x3	LOC126862711, LOC126862712 +1643 more	Copy number gain	See cases	GPathogenic
Select item 155151	GRCh38/hg38 18p11.32-q23(chr18:136226-80256240)x3	LOC130062667, LOC130062668 +1643 more	Copy number gain	See cases	GPathogenic
Select item 154106	GRCh38/hg38 18p11.32-q23(chr18:136227-80256240)x3	LOC130062278, LOC130062279 +1643 more	Copy number gain	See cases	GPathogenic
Select item 160810	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	LOC126862732, LOC126862733 +1643 more	Copy number gain	See cases	GPathogenic
Select item 58729	GRCh38/hg38 18p11.32-q23(chr18:148963-80244381)x3	ANKRD12, ANKRD29 +1642 more	Copy number gain	See cases	GPathogenic
Select item 33085	GRCh38/hg38 18p11.32-q23(chr18:148963-80252149)x3	SERPINB12, SERPINB13 +1643 more	Copy number gain	See cases	GPathogenic
Select item 150559	GRCh38/hg38 18p11.32-q23(chr18:149089-80254936)x3	LOC125368553, LOC125368554 +1643 more	Copy number gain	See cases	GPathogenic
Select item 144654	GRCh38/hg38 18p11.32-q23(chr18:149089-80234391)x3	LOC130062355, LOC130062356 +1642 more	Copy number gain	See cases	GPathogenic
Select item 58756	GRCh38/hg38 18q11.1-23(chr18:20960320-80234429)x3	LOC126862717, LOC126862718 +1266 more	Copy number gain	See cases	GPathogenic
Select item 154990	GRCh38/hg38 18q11.1-22.3(chr18:20962119-74691446)x3	LOC132090510, LOC132090511 +1089 more	Copy number gain	See cases	GPathogenic
Select item 58762	GRCh38/hg38 18q11.1-23(chr18:20989762-80209986)x3	LOC132211113, LOC132211114 +1266 more	Copy number gain	See cases	GPathogenic
Select item 147738	GRCh38/hg38 18q12.1-23(chr18:32123105-80252149)x3	LOC130062787, LOC130062788 +1005 more	Copy number gain	See cases	GPathogenic
Select item 147762	GRCh38/hg38 18q12.2-22.1(chr18:38794728-65632804)x3	ACAA2, ALPK2 +596 more	Copy number gain	See cases	GPathogenic
Select item 154074	GRCh38/hg38 18q12.3-23(chr18:40367455-80256240)x3	LOC130062694, LOC130062695 +887 more	Copy number gain	See cases	GPathogenic
Select item 148972	GRCh38/hg38 18q12.3-23(chr18:42651392-80254946)x3	LINC01929, LINC02565 +879 more	Copy number gain	See cases	GPathogenic
Select item 148267	GRCh38/hg38 18q21.1-23(chr18:49199411-80254946)x3	LOC126862796, LOC126862797 +733 more	Copy number gain	See cases	GPathogenic
Select item 57310	GRCh38/hg38 18q21.1-23(chr18:50068129-80252149)x3	ADNP2, ALPK2 +706 more	Copy number gain	See cases	GPathogenic
Select item 152372	GRCh38/hg38 18q21.2-23(chr18:51167159-80256240)x1	LOC130062613, LOC130062614 +664 more	Copy number loss	See cases	GPathogenic
Select item 146087	GRCh38/hg38 18q21.2-23(chr18:51190429-80252149)x1	LOC130062683, LOC130062684 +664 more	Copy number loss	See cases	GPathogenic
Select item 59965	GRCh38/hg38 18q21.2-22.1(chr18:52156899-65408762)x1	ALPK2, ATP8B1 +340 more	Copy number loss	See cases	GPathogenic
Select item 150250	GRCh38/hg38 18q21.2-23(chr18:52421052-80254946)x1	LOC129391005, LOC129391006 +644 more	Copy number loss	See cases	GPathogenic
Select item 147495	GRCh38/hg38 18q21.2-23(chr18:53865057-80252149)x1	LOC130062551, LOC130062552 +636 more	Copy number loss	See cases	GPathogenic
Select item 150674	GRCh38/hg38 18q21.2-23(chr18:53959828-80254936)x3	LOC126862818, LOC126862819 +636 more	Copy number gain	See cases	GPathogenic
Select item 147283	GRCh38/hg38 18q21.2-21.32(chr18:54857756-60590631)x1	ALPK2, ATP8B1 +177 more	Copy number loss	See cases	GPathogenic
Select item 148300	GRCh38/hg38 18q21.2-23(chr18:55179364-80254946)x1	LOC130062592, LOC130062593 +602 more	Copy number loss	See cases	GPathogenic
Select item 60001	GRCh38/hg38 18q21.31-23(chr18:56353040-80209986)x1	LOC130062765, LOC130062766 +572 more	Copy number loss	See cases	GPathogenic
Select item 57345	GRCh38/hg38 18q21.31-23(chr18:56618038-80252149)x1	LOC108281158, LOC110120868 +573 more	Copy number loss	See cases	GPathogenic
Select item 144207	GRCh38/hg38 18q21.32-23(chr18:59567681-80252149)x1	CTDP1-DT, CYB5A +450 more	Copy number loss	See cases	GPathogenic
Select item 155128	GRCh38/hg38 18q21.32-22.3(chr18:59909593-72609801)x3	LOC132090499, LOC132090500 +200 more	Copy number gain	See cases	GLikely pathogenic
Select item 150873	GRCh38/hg38 18q21.32-23(chr18:59996934-80254946)x1	SERPINB13, SERPINB2 +436 more	Copy number loss	See cases	GPathogenic
Select item 1175203	NM_005912.3(MC4R):c.*252A>G	MC4R	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
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 3347719	NM_005912.3(MC4R):c.985T>C (p.Ser329Pro)	MC4R (S329P)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
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 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 211443	NM_005912.3(MC4R):c.972C>T (p.Gly324=)	MC4R	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 3358432	NM_005912.3(MC4R):c.949A>G (p.Ile317Val)	MC4R (I317V)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 890361	NM_005912.3(MC4R):c.949A>T (p.Ile317Phe)	MC4R (I317F)	Single nucleotide variant (missense variant)	Obesity	GUncertain significance
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 3346359	NM_005912.3(MC4R):c.941A>C (p.Lys314Thr)	MC4R (K314T)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
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 890917	NM_005912.3(MC4R):c.929G>A (p.Arg310Lys)	MC4R (R310K)	Single nucleotide variant (missense variant)	Obesity	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 3351267	NM_005912.3(MC4R):c.917G>A (p.Ser306Asn)	MC4R (S306N)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 735747	NM_005912.3(MC4R):c.915G>A (p.Arg305=)	MC4R	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 586138	NM_005912.3(MC4R):c.913C>T (p.Arg305Trp)	MC4R (R305W)	Single nucleotide variant (missense variant)	Obesity due to melanocortin 4 receptor deficiency +2 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 3340164	NM_005912.3(MC4R):c.907G>C (p.Ala303Pro)	MC4R (A303P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2637013	NM_005912.3(MC4R):c.905A>T (p.Tyr302Phe)	MC4R (Y302F)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 945179	NM_005912.3(MC4R):c.902T>C (p.Ile301Thr)	MC4R (I301T)	Single nucleotide variant (missense variant)	not provided	GPathogenic
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)	BODY MASS INDEX QUANTITATIVE TRAIT LOCUS 20 +3 more	GConflicting classifications of pathogenicity
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 3351958	NM_005912.3(MC4R):c.892G>A (p.Asp298Asn)	MC4R (D298N)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
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 3353099	NM_005912.3(MC4R):c.890T>C (p.Ile297Thr)	MC4R (I297T)	Single nucleotide variant (missense variant)	MC4R-related disorder	GUncertain significance
Select item 447711	NM_005912.3(MC4R):c.890T>A (p.Ile297Asn)	MC4R (I297N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 447710	NM_005912.3(MC4R):c.880A>C (p.Asn294His)	MC4R (N294H)	Single nucleotide variant (missense variant)	not specified	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 3344496	NM_005912.3(MC4R):c.873C>T (p.Ile291=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
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 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 3350114	NM_005912.3(MC4R):c.860A>G (p.Tyr287Cys)	MC4R (Y287C)	Single nucleotide variant (missense variant)	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 3356232	NM_005912.3(MC4R):c.849C>T (p.His283=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
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 3029040	NM_005912.3(MC4R):c.842T>C (p.Met281Thr)	MC4R (M281T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 492863	NM_005912.3(MC4R):c.838T>C (p.Phe280Leu)	MC4R (F280L)	Single nucleotide variant (missense variant)	Obesity	GPathogenic
Select item 734643	NM_005912.3(MC4R):c.837C>T (p.Cys279=)	MC4R	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 890918	NM_005912.3(MC4R):c.836G>A (p.Cys279Tyr)	MC4R (C279Y)	Single nucleotide variant (missense variant)	Obesity	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 3352809	NM_005912.3(MC4R):c.834G>A (p.Val278=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
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 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 14324	NM_005912.3(MC4R):c.821A>G (p.Asn274Ser)	MC4R (N274S)	Single nucleotide variant (missense variant)	Obesity +1 more	GConflicting classifications of pathogenicity
Select item 450466	NM_005912.3(MC4R):c.817C>T (p.Gln273Ter)	MC4R (Q273*)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
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 890919	NM_005912.3(MC4R):c.815C>G (p.Pro272Arg)	MC4R (P272R)	Single nucleotide variant (missense variant)	Obesity +1 more	GUncertain significance
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 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 3356280	NM_005912.3(MC4R):c.807C>T (p.Ile269=)	MC4R	Single nucleotide variant (synonymous variant)	MC4R-related disorder	GLikely benign
Select item 36486	NM_005912.3(MC4R):c.806T>A (p.Ile269Asn)	MC4R (I269N)	Single nucleotide variant (missense variant)	Obesity +3 more	GConflicting classifications of pathogenicity
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 327712	NM_005912.3(MC4R):c.776C>T (p.Ala259Val)	MC4R (A259V)	Single nucleotide variant (missense variant)	Obesity	GUncertain significance
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 1321145	NM_005912.3(MC4R):c.763G>A (p.Val255Ile)	MC4R (V255I)	Single nucleotide variant (missense variant)	not provided	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 492862	NM_005912.3(MC4R):c.757G>A (p.Val253Ile)	MC4R (V253I)	Single nucleotide variant (missense variant)	not specified +2 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 3357414	NM_005912.3(MC4R):c.752T>C (p.Ile251Thr)	MC4R (I251T)	Single nucleotide variant (missense variant)	MC4R-related disorder	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 549551	NM_005912.3(MC4R):c.749T>A (p.Leu250Gln)	MC4R (L250Q)	Single nucleotide variant (missense variant)	Obesity	GLikely pathogenic
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

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