C0268495[trait identifier] AND "3billion"[submitter] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 617810	NM_000275.3(OCA2):c.2360C>T (p.Ala787Val)	OCA2 (A787V +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GPathogenic/Likely pathogenic
Select item 436090	NM_000275.3(OCA2):c.2339G>A (p.Gly780Asp)	OCA2 (G780D +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 194918	NM_000275.3(OCA2):c.2020C>G (p.Leu674Val)	OCA2 (L674V +1 more)	Single nucleotide variant (missense variant)	not provided +9 more	GConflicting classifications of pathogenicity
Select item 1705737	NM_000275.3(OCA2):c.1952-7T>G	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism	GUncertain significance
Select item 1526109	NM_000275.3(OCA2):c.1706_1707insT (p.Ala570fs)	OCA2 (A546fs +1 more)	Insertion (frameshift variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 1333677	NM_000275.3(OCA2):c.1648G>A (p.Glu550Lys)	OCA2 (E526K +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism	GLikely pathogenic
Select item 1211398	NM_000275.3(OCA2):c.1349C>T (p.Thr450Met)	OCA2 (T426M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 211766	NM_000275.3(OCA2):c.1211C>T (p.Thr404Met)	OCA2 (T404M +1 more)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +4 more	GPathogenic/Likely pathogenic
Select item 617802	NM_000275.3(OCA2):c.1045-15T>G	OCA2	Single nucleotide variant (intron variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 958	NM_000275.3(OCA2):c.1001C>T (p.Ala334Val)	OCA2 (A334V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1006003	NM_000275.3(OCA2):c.849C>A (p.Ser283Arg)	OCA2 (S283R)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GUncertain significance
Select item 1705700	NM_000275.3(OCA2):c.808-3C>G	OCA2	Single nucleotide variant (intron variant)	Tyrosinase-positive oculocutaneous albinism +3 more	GPathogenic
Select item 198063	NM_000275.3(OCA2):c.593C>T (p.Pro198Leu)	OCA2 (P198L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1705308	NM_000275.3(OCA2):c.515+1G>A	OCA2	Single nucleotide variant (splice donor variant)	Tyrosinase-positive oculocutaneous albinism +1 more	GLikely pathogenic
Select item 1705444	NM_000275.3(OCA2):c.163dup (p.Ala55fs)	OCA2 (A55fs)	Duplication (frameshift variant)	SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES +2 more	GPathogenic/Likely pathogenic
Select item 321430	NM_002386.4(MC1R):c.515G>T (p.Ser172Ile)	MC1R (S172I)	Single nucleotide variant (missense variant)	Tyrosinase-positive oculocutaneous albinism +2 more	GConflicting classifications of pathogenicity
Select item 470711	NM_002386.4(MC1R):c.766C>T (p.Pro256Ser)	MC1R (P256S)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +3 more	GUncertain significance
Select item 470716	NM_002386.4(MC1R):c.917G>A (p.Arg306His)	MC1R (R306H)	Single nucleotide variant (missense variant)	Melanoma, cutaneous malignant, susceptibility to, 5 +1 more	GConflicting classifications of pathogenicity