C2751295[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 430181	NM_002386.4(MC1R):c.104G>A (p.Cys35Tyr)	MC1R (C35Y)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +4 more	GUncertain significance
Select item 406211	NM_002386.4(MC1R):c.112G>A (p.Val38Met)	MC1R (V38M)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +3 more	GUncertain significance
Select item 14311	NM_002386.4(MC1R):c.178G>T (p.Val60Leu)	MC1R (V60L)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 321421	NM_002386.4(MC1R):c.200G>A (p.Arg67Gln)	MC1R (R67Q)	Single nucleotide variant (missense variant)	MC1R-related disorder +5 more	GBenign/Likely benign
Select item 449207	NM_002386.4(MC1R):c.265G>C (p.Gly89Arg)	MC1R (G89R)	Single nucleotide variant (missense variant)	not provided +4 more	GUncertain significance
Select item 1053052	NM_002386.4(MC1R):c.313G>A (p.Ala105Thr)	MC1R (A105T)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GUncertain significance
Select item 470704	NM_002386.4(MC1R):c.332C>T (p.Ala111Val)	MC1R (A111V)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GConflicting classifications of pathogenicity
Select item 258651	NM_002386.4(MC1R):c.466G>C (p.Val156Leu)	MC1R (V156L)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +5 more	GBenign/Likely benign
Select item 258652	NM_002386.4(MC1R):c.488G>A (p.Arg163Gln)	MC1R (R163Q)	Single nucleotide variant (missense variant)	not provided +5 more	GBenign
Select item 969262	NM_002386.4(MC1R):c.577G>A (p.Val193Met)	MC1R (V193M)	Single nucleotide variant (missense variant)	Increased analgesia from kappa-opioid receptor agonist, female-specific +3 more	GUncertain significance
Select item 239157	NM_002386.4(MC1R):c.583T>G (p.Phe195Val)	MC1R (F195V)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +3 more	GUncertain significance
Select item 321433	NM_002386.4(MC1R):c.586T>C (p.Phe196Leu)	MC1R (F196L)	Single nucleotide variant (missense variant)	MC1R-related disorder +5 more	GBenign/Likely benign
Select item 470711	NM_002386.4(MC1R):c.766C>T (p.Pro256Ser)	MC1R (P256S)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GUncertain significance
Select item 258653	NM_002386.4(MC1R):c.795C>G (p.Val265=)	MC1R	Single nucleotide variant (synonymous variant)	Skin/hair/eye pigmentation, variation in, 2 +4 more	GBenign/Likely benign
Select item 1010119	NM_002386.4(MC1R):c.803C>G (p.Pro268Arg)	MC1R (P268R)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +3 more	GUncertain significance