Related gene-specific medical variations for Gene (Select 4160) - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 1807845	GRCh37/hg19 18q21.32(chr18:57894993-58039760)x1	MC4R	Copy number loss	not provided	GLikely pathogenic
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 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 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 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 638110	GRCh37/hg19 18q21.32(chr18:57940764-58095560)x1	MC4R	Copy number loss	See cases	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