"Genome Diagnostics Laboratory, The Hospital for Sick Children"[submit - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 321997	NM_002615.6(SERPINF1):c.-86C>A	SERPINF1	Single nucleotide variant	Osteogenesis Imperfecta, Recessive +2 more	GBenign/Likely benign
Select item 1702058	NM_002615.7(SERPINF1):c.-9+6G>A	SERPINF1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta	GUncertain significance
Select item 890646	NM_002615.7(SERPINF1):c.15G>T (p.Val5=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta type 6 +2 more	GConflicting classifications of pathogenicity
Select item 1602928	NM_002615.7(SERPINF1):c.99C>T (p.Pro33=)	LOC130059891, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 732208	NM_002615.7(SERPINF1):c.151G>A (p.Val51Met)	LOC130059891, SERPINF1 (V51M)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GBenign
Select item 1702051	NM_002615.7(SERPINF1):c.156C>T (p.Asn52=)	LOC130059891, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta	GUncertain significance
Select item 289666	NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu)	LOC130059891, SERPINF1 (V68L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 322000	NM_002615.7(SERPINF1):c.215C>T (p.Thr72Met)	SERPINF1 (T72M)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6 +3 more	GBenign
Select item 218613	NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys)	LOC130059892, SERPINF1 (S81C)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 322004	NM_002615.7(SERPINF1):c.395C>G (p.Pro132Arg)	SERPINF1 (P132R)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 1430287	NM_002615.7(SERPINF1):c.397C>A (p.Gln133Lys)	SERPINF1 (Q133K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1702052	NM_002615.7(SERPINF1):c.426C>T (p.Ile142=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta +1 more	GConflicting classifications of pathogenicity
Select item 1702053	NM_002615.7(SERPINF1):c.439+7C>T	SERPINF1	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1702054	NM_002615.7(SERPINF1):c.609C>T (p.Ile203=)	SERPINF1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1449308	NM_002615.7(SERPINF1):c.620T>G (p.Leu207Arg)	SERPINF1 (L207R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 279577	NM_002615.7(SERPINF1):c.643+8C>T	SERPINF1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta +2 more	GBenign/Likely benign
Select item 1702055	NM_002615.7(SERPINF1):c.702_704del (p.Asp234del)	SERPINF1 (D234del +1 more)	Deletion (inframe_deletion)	Osteogenesis imperfecta	GUncertain significance
Select item 1702056	NM_002615.7(SERPINF1):c.787-10C>G	SERPINF1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta	GLikely pathogenic
Select item 1702057	NM_002615.7(SERPINF1):c.871G>A (p.Glu291Lys)	SERPINF1 (E104K +1 more)	Single nucleotide variant (missense variant)	Osteogenesis imperfecta	GUncertain significance