C0001916[trait identifier] AND "NIHR Bioresource Rare Diseases, Univer - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 17593	NM_000550.3(TYRP1):c.1103del (p.Lys368fs)	LURAP1L-AS1, TYRP1 (K368fs)	Deletion (frameshift variant)	Oculocutaneous albinism type 3 +2 more	GPathogenic/Likely pathogenic
Select item 437186	NM_000550.3(TYRP1):c.1261+1G>A	LURAP1L-AS1, TYRP1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 3772	NM_000372.5(TYR):c.242C>T (p.Pro81Leu)	TYR (P81L)	Single nucleotide variant (missense variant)	Tyrosinase-negative oculocutaneous albinism +7 more	GPathogenic
Select item 437987	NM_000372.5(TYR):c.1264C>T (p.Arg422Trp)	TYR (R422W)	Single nucleotide variant (missense variant)	not provided +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 438059	NM_000275.3(OCA2):c.1660T>C (p.Trp554Arg)	OCA2 (W554R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 438247	NM_000275.3(OCA2):c.646+1825_807+679del	OCA2	Deletion (splice acceptor variant +1 more)	Albinism	GLikely pathogenic
Select item 98647	NM_000273.3(GPR143):c.874T>G (p.Trp292Gly)	GPR143 (W292G)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 438187	NM_000273.3(GPR143):c.779A>G (p.Asn260Ser)	GPR143 (N260S)	Single nucleotide variant (missense variant)	Albinism	GLikely pathogenic