"PreventionGenetics, part of Exact Sciences"[submitter] AND "CREB3L1"[ - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3056852	NM_052854.4(CREB3L1):c.444T>G (p.Ala148=)	CREB3L1	Single nucleotide variant (synonymous variant)	CREB3L1-related disorder	GLikely benign
Select item 1569640	NM_052854.4(CREB3L1):c.463A>C (p.Thr155Pro)	CREB3L1 (T155P)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 3052174	NM_052854.4(CREB3L1):c.516+4A>G	CREB3L1	Single nucleotide variant (intron variant)	CREB3L1-related disorder	GLikely benign
Select item 710354	NM_052854.4(CREB3L1):c.599A>T (p.Asp200Val)	CREB3L1 (D200V)	Single nucleotide variant (missense variant)	CREB3L1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2083014	NM_052854.4(CREB3L1):c.621G>A (p.Thr207=)	CREB3L1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2629659	NM_052854.4(CREB3L1):c.749del (p.Pro250fs)	CREB3L1 (P250fs)	Deletion (frameshift variant)	CREB3L1-related disorder	GUncertain significance
Select item 1595308	NM_052854.4(CREB3L1):c.918G>A (p.Glu306=)	CREB3L1	Single nucleotide variant (synonymous variant)	CREB3L1-related disorder +1 more	GLikely benign
Select item 717096	NM_052854.4(CREB3L1):c.1194C>T (p.Ser398=)	CREB3L1	Single nucleotide variant (synonymous variant)	CREB3L1-related disorder +1 more	GBenign/Likely benign
Select item 3057475	NM_052854.4(CREB3L1):c.1284C>T (p.Tyr428=)	CREB3L1	Single nucleotide variant (synonymous variant)	CREB3L1-related disorder	GLikely benign
Select item 744442	NM_052854.4(CREB3L1):c.1325T>G (p.Leu442Arg)	CREB3L1 (L442R)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 724255	NM_052854.4(CREB3L1):c.1333A>G (p.Met445Val)	CREB3L1 (M445V)	Single nucleotide variant (missense variant)	CREB3L1-related disorder +1 more	GBenign/Likely benign
Select item 1649795	NM_052854.4(CREB3L1):c.1541C>A (p.Thr514Asn)	CREB3L1 (T514N)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign