Related gene-specific medical variations for Gene (Select 4157) - ClinVar - NCBI

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Items: 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243488	NC_000016.10:g.(?_89919259)_(89920212_?)dup	MC1R	Duplication	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 3243487	NC_000016.9:g.(?_89986209)_(89987212_?)del	MC1R	Deletion	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 1003539	NC_000016.9:g.(?_89986211)_89987210del	MC1R	Deletion	Melanoma, cutaneous malignant, susceptibility to, 5	GUncertain significance
Select item 160360	NM_002386.4(MC1R):c.575T>C (p.Leu192Pro)	MC1R (L192P)	Single nucleotide variant (missense variant)	not provided	Gnot provided

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