"PreventionGenetics, part of Exact Sciences"[submitter] AND "LURAP1L-A - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2152054	NM_000550.3(TYRP1):c.919G>A (p.Glu307Lys)	LURAP1L-AS1, TYRP1 (E307K)	Single nucleotide variant (missense variant)	TYRP1-related condition +1 more	GConflicting classifications of pathogenicity
Select item 1215523	NM_000550.3(TYRP1):c.1037C>G (p.Pro346Arg)	LURAP1L-AS1, TYRP1 (P346R)	Single nucleotide variant (missense variant)	TYRP1-related condition +1 more	GUncertain significance
Select item 17596	NM_000550.3(TYRP1):c.1067G>A (p.Arg356Gln)	LURAP1L-AS1, TYRP1 (R356Q)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 256641	NM_000550.3(TYRP1):c.1082-9T>C	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 256642	NM_000550.3(TYRP1):c.1261+20C>T	LURAP1L-AS1, TYRP1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 256643	NM_000550.3(TYRP1):c.1409-18dup	LURAP1L-AS1, TYRP1	Duplication (intron variant)	not specified +2 more	GBenign
Select item 198744	NM_000550.3(TYRP1):c.1500G>A (p.Leu500=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	Oculocutaneous albinism type 3 +2 more	GBenign/Likely benign
Select item 198743	NM_000550.3(TYRP1):c.1557T>G (p.Tyr519Ter)	TYRP1, LURAP1L-AS1 (Y519*)	Single nucleotide variant (nonsense)	Oculocutaneous albinism type 3 +3 more	GBenign/Likely benign
Select item 2999420	NM_000550.3(TYRP1):c.1566T>C (p.Tyr522=)	LURAP1L-AS1, TYRP1	Single nucleotide variant (synonymous variant)	TYRP1-related condition +1 more	GLikely benign