"Invitae"[submitter] AND "CRLS1"[gene] - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 727712	NM_019095.6(CRLS1):c.54T>G (p.Ala18=)	CRLS1	Single nucleotide variant (5 prime UTR variant +3 more)	not provided	GLikely benign
Select item 787574	NM_019095.6(CRLS1):c.867T>C (p.Tyr289=)	CRLS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2427039	NC_000020.10:g.(?_5896972)_(6012016_?)del	CHGB, CRLS1 +2 more	Deletion	not provided	GPathogenic
Select item 2422855	NC_000020.10:g.(?_1959939)_(6760201_?)dup	ADAM33, ADISSP +60 more	Duplication	Pigmentary pallidal degeneration +1 more	GUncertain significance
Select item 831757	NC_000020.10:g.(?_6015110)_(6759736_?)del	BMP2, CRLS1 +2 more	Deletion	not provided	GPathogenic

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