ClinVar for MedGen (Select 864047) - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359262	NM_052854.4(CREB3L1):c.1259-7_1267del	CREB3L1	Deletion (splice acceptor variant)	Osteogenesis imperfecta type 16	GLikely pathogenic
Select item 2920975	NM_052854.4(CREB3L1):c.132G>A (p.Thr44=)	CREB3L1	Single nucleotide variant (synonymous variant)	Osteogenesis imperfecta type 16	GLikely benign
Select item 2440540	NM_052854.4(CREB3L1):c.627del (p.Ser210fs)	CREB3L1 (S210fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 16	GUncertain significance
Select item 2385280	NM_052854.4(CREB3L1):c.635A>G (p.His212Arg)	CREB3L1 (H212R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 16 +1 more	GConflicting classifications of pathogenicity
Select item 2376329	NM_052854.4(CREB3L1):c.667C>T (p.Arg223Cys)	CREB3L1 (R223C)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 16 +2 more	GUncertain significance
Select item 1908157	NM_052854.4(CREB3L1):c.1259-14C>T	CREB3L1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1687286	NM_052854.4(CREB3L1):c.1186G>T (p.Glu396Ter)	CREB3L1 (E396*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 16	GPathogenic
Select item 1637938	NM_052854.4(CREB3L1):c.1259-13A>G	CREB3L1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1423517	NM_052854.4(CREB3L1):c.284C>T (p.Ala95Val)	CREB3L1 (A95V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 16 +2 more	GUncertain significance
Select item 1206040	NM_052854.4(CREB3L1):c.454G>A (p.Ala152Thr)	CREB3L1 (A152T)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 982569	NM_052854.4(CREB3L1):c.911C>T (p.Ala304Val)	CREB3L1 (A304V)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 16	GPathogenic
Select item 930601	NM_052854.4(CREB3L1):c.774del (p.Pro259fs)	CREB3L1 (P259fs)	Deletion (frameshift variant)	Osteogenesis imperfecta type 16	GLikely pathogenic
Select item 768444	NM_052854.4(CREB3L1):c.1523+6del	CREB3L1	Deletion (intron variant)	not provided +1 more	GBenign
Select item 710354	NM_052854.4(CREB3L1):c.599A>T (p.Asp200Val)	CREB3L1 (D200V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 559484	NM_052854.4(CREB3L1):c.1284C>A (p.Tyr428Ter)	CREB3L1 (Y428*)	Single nucleotide variant (nonsense)	Osteogenesis imperfecta type 16	GPathogenic
Select item 559483	NM_052854.4(CREB3L1):c.928AAG[2] (p.Lys312del)	CREB3L1 (K312del)	Microsatellite (inframe_deletion)	Osteogenesis imperfecta	GPathogenic
Select item 432652	NM_052854.4(CREB3L1):c.488C>G (p.Pro163Arg)	CREB3L1 (P163R)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta type 16 +1 more	GUncertain significance
Select item 402564	NM_052854.3(CREB3L1):c.1525dup	CREB3L1	Duplication (intron variant)	not provided +2 more	GBenign