MC5R[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58716	GRCh38/hg38 18p11.32-11.21(chr18:10001-15380684)x3	ADCYAP1, AFG3L2 +379 more	Copy number gain	See cases	GPathogenic
Select item 152926	GRCh38/hg38 18p11.32-11.21(chr18:14316-14206225)x3	ADCYAP1, AFG3L2 +373 more	Copy number gain	See cases	GPathogenic
Select item 153128	GRCh38/hg38 18p11.32-11.21(chr18:48782-14978076)x1	ADCYAP1, AFG3L2 +378 more	Copy number loss	See cases	GPathogenic
Select item 58720	GRCh38/hg38 18p11.32-q11.1(chr18:53345-20948503)x3	LINC00668, LINC01254 +379 more	Copy number gain	See cases	GPathogenic
Select item 58718	GRCh38/hg38 18p11.32-q23(chr18:53345-80209986)x3	ABHD3, ACAA2 +1646 more	Copy number gain	See cases	GPathogenic
Select item 59614	GRCh38/hg38 18p11.32-11.21(chr18:112259-14122522)x1	ADCYAP1, AFG3L2 +368 more	Copy number loss	See cases	GPathogenic
Select item 152548	GRCh38/hg38 18p11.32-11.21(chr18:118760-15024003)x1	NDUFV2-AS1, PIEZO2 +374 more	Copy number loss	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 148383	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x1	LOC130062167, LOC130062168 +367 more	Copy number loss	See cases	GPathogenic
Select item 148382	GRCh38/hg38 18p11.32-11.21(chr18:118760-14089410)x4	LOC125338465, LOC125338466 +367 more	Copy number gain	See cases	GPathogenic
Select item 59617	GRCh38/hg38 18p11.32-11.21(chr18:131700-14226905)x1	LOC130062104, LOC130062105 +368 more	Copy number loss	See cases	GPathogenic
Select item 59615	GRCh38/hg38 18p11.32-11.21(chr18:131700-15121055)x1	ADCYAP1, AFG3L2 +374 more	Copy number loss	See cases	GPathogenic
Select item 149042	GRCh38/hg38 18p11.32-11.21(chr18:133157-14089410)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	See cases	GPathogenic
Select item 155410	GRCh38/hg38 18p11.32-11.21(chr18:136226-14337134)x3	LOC130062144, LOC130062145 +368 more	Copy number gain	See cases	GPathogenic
Select item 155367	GRCh38/hg38 18p11.32-11.21(chr18:136226-15198991)x4	ADCYAP1, AFG3L2 +374 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 151749	GRCh38/hg38 18p11.32-11.21(chr18:136226-15175006)	ADCYAP1, AFG3L2 +374 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 160884	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	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 146198	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x4	ADCYAP1, AFG3L2 +367 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 58728	GRCh38/hg38 18p11.32-q11.1(chr18:148963-21040153)x3	SLC35G4, SMCHD1 +375 more	Copy number gain	See cases	GPathogenic
Select item 34384	GRCh38/hg38 18p11.32-11.21(chr18:148963-14081888)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	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 2579191	GRCh38/hg38 18p11.32-11.21(chr18:158286-14124574)x1	ADCYAP1, AFG3L2 +367 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 58749	GRCh38/hg38 18p11.32-11.21(chr18:1919684-15325188)x3	LOC130062147, LOC130062148 +339 more	Copy number gain	See cases	GPathogenic
Select item 155008	GRCh38/hg38 18p11.22-q11.2(chr18:8779843-24685379)x3	LOC130062208, LOC130062209 +322 more	Copy number gain	See cases	GPathogenic
Select item 147418	GRCh38/hg38 18p11.22-11.21(chr18:10077657-14081888)x3	AFG3L2, ANKRD62 +137 more	Copy number gain	See cases	GPathogenic
Select item 155388	GRCh38/hg38 18p11.21-q11.2(chr18:13340112-23409879)	LOC130062243, LOC130062244 +111 more	Copy number gain	See cases	GPathogenic
Select item 148622	GRCh38/hg38 18p11.21(chr18:13604748-14089410)x4	FAM210A, LDLRAD4 +16 more	Copy number gain	See cases	GUncertain significance
Select item 3124155	NM_005913.3(MC5R):c.345C>G (p.Asp115Glu)	MC5R (D115E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 777720	NM_005913.3(MC5R):c.375C>T (p.Ser125=)	MC5R	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3124156	NM_005913.3(MC5R):c.412G>C (p.Val138Leu)	MC5R (V138L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317682	NM_005913.3(MC5R):c.424G>C (p.Val142Leu)	MC5R (V142L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298638	NM_005913.3(MC5R):c.463A>G (p.Thr155Ala)	MC5R (T155A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124157	NM_005913.3(MC5R):c.471G>C (p.Arg157Ser)	MC5R (R157S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124158	NM_005913.3(MC5R):c.511A>T (p.Thr171Ser)	MC5R (T171S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486089	NM_005913.3(MC5R):c.512C>A (p.Thr171Lys)	MC5R (T171K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346527	NM_005913.3(MC5R):c.512C>T (p.Thr171Met)	MC5R (T171M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368755	NM_005913.3(MC5R):c.551C>T (p.Thr184Ile)	MC5R (T184I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348371	NM_005913.3(MC5R):c.586G>A (p.Ala196Thr)	MC5R (A196T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3124159	NM_005913.3(MC5R):c.652C>T (p.Arg218Trp)	MC5R (R218W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600843	NM_005913.3(MC5R):c.733G>T (p.Gly245Cys)	MC5R (G245C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489326	NM_005913.3(MC5R):c.749G>T (p.Cys250Phe)	MC5R (C250F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3124160	NM_005913.3(MC5R):c.806A>G (p.Tyr269Cys)	MC5R (Y269C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348747	NM_005913.3(MC5R):c.809G>C (p.Cys270Ser)	MC5R (C270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293586	NM_005913.3(MC5R):c.857G>A (p.Cys286Tyr)	MC5R (C286Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253412	NM_005913.3(MC5R):c.857G>T (p.Cys286Phe)	MC5R (C286F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2336413	NM_005913.3(MC5R):c.883T>C (p.Tyr295His)	MC5R (Y295H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293585	NM_005913.3(MC5R):c.952G>A (p.Ala318Thr)	MC5R (A318T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471933	NM_005913.3(MC5R):c.968G>C (p.Arg323Thr)	MC5R (R323T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063563	GRCh37/hg19 18p11.32-11.21(chr18:136226-14352648)x1	ADCYAP1, AFG3L2 +63 more	Copy number loss	not specified	GPathogenic
Select item 3063558	GRCh37/hg19 18p11.32-11.21(chr18:136226-15161581)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 3063542	GRCh37/hg19 18p11.31-11.21(chr18:2922899-15198990)x3	AFG3L2, AKAIN1 +51 more	Copy number gain	not specified	GPathogenic
Select item 3063540	GRCh37/hg19 18p11.32-11.21(chr18:136226-14455323)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3063537	GRCh37/hg19 18p11.32-11.21(chr18:136226-14148354)x3	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 3062373	GRCh37/hg19 18p11.32-11.21(chr18:136227-15157836)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 2685611	GRCh37/hg19 18p11.32-11.21(chr18:136227-14585159)x1	ADCYAP1, AFG3L2 +64 more	Copy number loss	not provided	GPathogenic
Select item 2685058	GRCh37/hg19 18p11.32-q11.1(chr18:136227-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	not provided	GPathogenic
Select item 2446821	GRCh37/hg19 18p11.32-11.1(chr18:1-15400035)	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1809261	GRCh37/hg19 18p11.21(chr18:13820511-14144453)x3	MC2R, MC5R +1 more	Copy number gain	not provided	GUncertain significance
Select item 1807752	GRCh37/hg19 18p11.21(chr18:11290617-15106305)x3	AFG3L2, ANKRD30B +22 more	Copy number gain	not provided	GUncertain significance
Select item 1706501	GRCh37/hg19 18p11.32-11.21(chr18:136226-14632436)x1	METTL4, MPPE1 +64 more	Copy number loss	See cases	GPathogenic
Select item 1703574	GRCh37/hg19 18p11.32-q23(chr18:1-78077248)	CABYR, CBLN2 +267 more	Copy number gain	Trisomy 18	GPathogenic
Select item 1701345	GRCh37/hg19 18p11.32-11.21(chr18:47390-14854037)x3	FAM210A, LAMA1 +65 more	Copy number gain	not provided	GPathogenic
Select item 1526597	GRCh37/hg19 18p11.32-q23(chr18:136226-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	not specified	GPathogenic
Select item 1526594	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)	ADCYAP1, AFG3L2 +65 more	Copy number gain	not specified	GPathogenic
Select item 1526593	GRCh37/hg19 18p11.32-11.21(chr18:136226-14983938)	ADCYAP1, AFG3L2 +65 more	Copy number loss	not specified	GPathogenic
Select item 1526592	GRCh37/hg19 18p11.32-11.21(chr18:136226-14384326)	ADCYAP1, AFG3L2 +63 more	Copy number gain	not specified	GPathogenic
Select item 1340066	GRCh37/hg19 18p11.32-q12.1(chr18:136226-25252276)x3	ABHD3, ADCYAP1 +95 more	Copy number gain	not provided	GPathogenic
Select item 1330176	GRCh37/hg19 18p11.32-11.1(chr18:10501-15410398)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	Deletion of short arm of chromosome 18	GPathogenic
Select item 1326872	Single allele	AKAIN1, LIPG +174 more	Deletion	Intellectual disability	GPathogenic
Select item 1077182	Single allele	AFG3L2, AKAIN1 +50 more	Deletion	Deletion of short arm of chromosome 18	GPathogenic
Select item 979519	GRCh37/hg19 18p11.23-11.1(chr18:7598173-15422644)x1	MTCL1, CIDEA +36 more	Copy number loss	not provided	GPathogenic
Select item 816496	GRCh37/hg19 18p11.32-11.21(chr18:13034-15330525)x1	MYL12B, FAM210A +65 more	Copy number loss	See cases	GPathogenic
Select item 815988	GRCh37/hg19 18p11.32-q11.1(chr18:136226-18529578)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	not provided	GPathogenic
Select item 815987	GRCh37/hg19 18p11.32-11.21(chr18:136226-15175005)x1	MC2R, ZBTB14 +65 more	Copy number loss	not provided	GPathogenic
Select item 815986	GRCh37/hg19 18p11.32-11.21(chr18:136304-15143714)x1	CEP192, TUBB6 +65 more	Copy number loss	not provided	GPathogenic
Select item 815982	GRCh37/hg19 18p11.21(chr18:13776957-14814649)x3	ZNF519, POTEC +3 more	Copy number gain	not provided	GUncertain significance
Select item 815981	GRCh37/hg19 18p11.32-11.21(chr18:136226-13894429)x1	RAB12, RAB31 +62 more	Copy number loss	not provided	GPathogenic
Select item 689266	GRCh37/hg19 18p11.21(chr18:13582359-14773313)x3	ANKRD30B, FAM210A +6 more	Copy number gain	not provided	GUncertain significance
Select item 564565	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x4	NDUFV2, POTEC +65 more	Copy number gain	not provided	GPathogenic
Select item 564564	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198989)x1	DLGAP1, ZNF519 +65 more	Copy number loss	not provided	GPathogenic
Select item 564563	GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x4	PSMG2, SMCHD1 +65 more	Copy number gain	not provided	GPathogenic
Select item 564562	GRCh37/hg19 18p11.32-11.21(chr18:958974-15181666)x3	LPIN2, SLC35G4 +55 more	Copy number gain	not provided	GPathogenic
Select item 564532	GRCh37/hg19 18p11.21(chr18:13582359-14776210)x3	POTEC, ANKRD30B +6 more	Copy number gain	not provided	GUncertain significance
Select item 503584	GRCh37/hg19 18p11.32-11.21(chr18:13034-15375878)x1	GNAL, IMPA2 +65 more	Copy number loss	See cases	GPathogenic
Select item 446344	GRCh37/hg19 18p11.32-11.21(chr18:13034-15026309)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 443993	GRCh37/hg19 18p11.32-q23(chr18:136227-78014123)	ABHD3, ACAA2 +267 more	Copy number gain	See cases	GPathogenic
Select item 443983	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 443982	GRCh37/hg19 18p11.32-11.21(chr18:136226-15198990)x3	ADCYAP1, AFG3L2 +65 more	Copy number gain	See cases	GPathogenic
Select item 443872	GRCh37/hg19 18p11.22-11.21(chr18:9671667-14854484)x1	AFG3L2, ANKRD30B +28 more	Copy number loss	See cases	GUncertain significance
Select item 443376	GRCh37/hg19 18p11.21(chr18:13776957-15198990)x3	ANKRD30B, MC2R +3 more	Copy number gain	See cases	GUncertain significance
Select item 442789	GRCh37/hg19 18p11.32-11.21(chr18:1-15157836)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic
Select item 442720	GRCh37/hg19 18p11.32-q11.1(chr18:136226-18521285)x4	ADCYAP1, AFG3L2 +65 more	Copy number gain	See cases	GPathogenic
Select item 442451	GRCh37/hg19 18p11.32-q21.1(chr18:136227-46171053)x3	ABHD3, ADCYAP1 +157 more	Copy number gain	See cases	GPathogenic
Select item 441993	GRCh37/hg19 18p11.32-11.21(chr18:136226-15157836)x1	ADCYAP1, AFG3L2 +65 more	Copy number loss	See cases	GPathogenic

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