Related gene-specific medical variations for Gene (Select 5176) - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382697	NM_002615.7(SERPINF1):c.377T>C (p.Leu126Pro)	SERPINF1 (L126P)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 3362585	NM_002615.7(SERPINF1):c.1118_1119del (p.Pro373fs)	SERPINF1 (P186fs +1 more)	Deletion (frameshift variant)	Osteogenesis imperfecta type 6	GLikely pathogenic
Select item 3243154	NC_000017.10:g.(?_1670205)_(1675389_?)del	SERPINF1	Deletion	not provided	GPathogenic
Select item 3243152	NC_000017.10:g.(?_1673126)_(1673364_?)del	SERPINF1	Deletion	not provided	GPathogenic
Select item 3064103	NM_002615.7(SERPINF1):c.4C>T (p.Gln2Ter)	SERPINF1 (Q2*)	Single nucleotide variant (nonsense +1 more)	Osteogenesis imperfecta type 6	GLikely pathogenic
Select item 2974484	NM_002615.7(SERPINF1):c.111G>A (p.Gly37=)	LOC130059891, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2894098	NM_002615.7(SERPINF1):c.249C>A (p.Leu83=)	LOC130059892, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2736388	NM_002615.7(SERPINF1):c.283+1G>T	LOC130059892, SERPINF1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 2595344	NM_002615.7(SERPINF1):c.260C>T (p.Thr87Met)	LOC130059892, SERPINF1 (T87M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2584800	NM_002615.7(SERPINF1):c.252T>G (p.Ser84Arg)	LOC130059892, SERPINF1 (S84R)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 2578340	NM_002615.7(SERPINF1):c.277T>C (p.Ser93Pro)	LOC130059892, SERPINF1 (S93P)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 2441975	NM_002615.7(SERPINF1):c.517C>T (p.Pro173Ser)	SERPINF1 (P173S)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 2421568	NM_002615.7(SERPINF1):c.150C>T (p.Pro50=)	LOC130059891, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2418208	NM_002615.7(SERPINF1):c.232G>A (p.Val78Met)	LOC130059892, SERPINF1 (V78M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2413177	NM_002615.7(SERPINF1):c.194T>C (p.Leu65Pro)	LOC130059891, SERPINF1 (L65P)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 2114472	NM_002615.7(SERPINF1):c.277_278dup (p.Leu94fs)	LOC130059892, SERPINF1 (L94fs)	Microsatellite (frameshift variant +1 more)	not provided	GPathogenic
Select item 2100038	NM_002615.7(SERPINF1):c.278C>G (p.Ser93Trp)	LOC130059892, SERPINF1 (S93W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2086718	NM_002615.7(SERPINF1):c.153G>A (p.Val51=)	LOC130059891, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1934859	NM_002615.7(SERPINF1):c.206G>A (p.Arg69Gln)	SERPINF1, LOC130059891 (R69Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1643517	NM_002615.7(SERPINF1):c.231C>T (p.Asn77=)	LOC130059892, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1638454	NM_002615.7(SERPINF1):c.261G>A (p.Thr87=)	LOC130059892, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 1589724	NM_002615.7(SERPINF1):c.168G>A (p.Ala56=)	LOC130059891, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1569949	NM_002615.7(SERPINF1):c.238C>T (p.Leu80=)	LOC130059892, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1548631	NM_002615.7(SERPINF1):c.183C>T (p.Phe61=)	LOC130059891, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1444044	NM_002615.7(SERPINF1):c.278C>T (p.Ser93Leu)	LOC130059892, SERPINF1 (S93L)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1409206	NM_002615.7(SERPINF1):c.100G>A (p.Asp34Asn)	LOC130059891, SERPINF1 (D34N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1400665	NM_002615.7(SERPINF1):c.193C>A (p.Leu65Met)	LOC130059891, SERPINF1 (L65M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1349154	NM_002615.7(SERPINF1):c.113C>T (p.Ala38Val)	LOC130059891, SERPINF1 (A38V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1312881	NM_002615.7(SERPINF1):c.236T>C (p.Leu79Pro)	LOC130059892, SERPINF1 (L79P)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1299366	NM_002615.7(SERPINF1):c.278C>A (p.Ser93Ter)	LOC130059892, SERPINF1 (S93*)	Single nucleotide variant (nonsense +1 more)	Osteogenesis imperfecta type 6 +1 more	GPathogenic
Select item 1224470	NM_002615.7(SERPINF1):c.262GCCCTCTCG[3] (p.88ALS[3])	LOC130059892, SERPINF1	Microsatellite (inframe_insertion +1 more)	Osteogenesis imperfecta +1 more	GPathogenic
Select item 1180675	NM_002615.7(SERPINF1):c.205C>T (p.Arg69Ter)	LOC130059891, SERPINF1 (R69*)	Single nucleotide variant (nonsense +1 more)	Abnormality of the skeletal system	GLikely pathogenic
Select item 890648	NM_002615.7(SERPINF1):c.167C>G (p.Ala56Gly)	LOC130059891, SERPINF1 (A56G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 755845	NM_002615.7(SERPINF1):c.165A>T (p.Ala55=)	LOC130059891, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 732208	NM_002615.7(SERPINF1):c.151G>A (p.Val51Met)	SERPINF1, LOC130059891 (V51M)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6 +2 more	GBenign
Select item 513156	NM_002615.7(SERPINF1):c.279G>T (p.Ser93=)	LOC130059892, SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 449927	NM_002615.7(SERPINF1):c.283+3dup	LOC130059892, SERPINF1	Duplication (intron variant)	not provided	GPathogenic
Select item 322001	NM_002615.7(SERPINF1):c.257C>T (p.Ala86Val)	LOC130059892, SERPINF1 (A86V)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6	GUncertain significance
Select item 321999	NM_002615.7(SERPINF1):c.134C>T (p.Pro45Leu)	LOC130059891, SERPINF1 (P45L)	Single nucleotide variant (missense variant +1 more)	Osteogenesis Imperfecta, Recessive	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 +2 more	GConflicting classifications of pathogenicity
Select item 218613	NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys)	SERPINF1, LOC130059892 (S81C)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6 +3 more	GConflicting classifications of pathogenicity
Select item 41892	NM_002615.7(SERPINF1):c.119_120del (p.Val40fs)	LOC130059891, SERPINF1 (V40fs)	Deletion (frameshift variant +1 more)	Osteogenesis imperfecta type 6	GPathogenic

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Links from Gene

Items: 44