"Labcorp Genetics (formerly Invitae), Labcorp"[submitter] AND "SERPINF - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1925593	NM_002615.7(SERPINF1):c.6G>A (p.Gln2=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 890646	NM_002615.7(SERPINF1):c.15G>T (p.Val5=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	Osteogenesis imperfecta +2 more	GConflicting classifications of pathogenicity
Select item 2144206	NM_002615.7(SERPINF1):c.18A>G (p.Leu6=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2144209	NM_002615.7(SERPINF1):c.21C>A (p.Leu7=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1397364	NM_002615.7(SERPINF1):c.29T>C (p.Ile10Thr)	SERPINF1 (I10T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 890647	NM_002615.7(SERPINF1):c.42C>T (p.Leu14=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1436889	NM_002615.7(SERPINF1):c.43G>A (p.Gly15Arg)	SERPINF1 (G15R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2115417	NM_002615.7(SERPINF1):c.45G>C (p.Gly15=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1353798	NM_002615.7(SERPINF1):c.62A>C (p.Asn21Thr)	SERPINF1 (N21T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1965603	NM_002615.7(SERPINF1):c.71G>A (p.Ser24Asn)	SERPINF1 (S24N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1635907	NM_002615.7(SERPINF1):c.72C>T (p.Ser24=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1388059	NM_002615.7(SERPINF1):c.77del (p.Pro26fs)	SERPINF1 (P26fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2064434	NM_002615.7(SERPINF1):c.83_84+1del	SERPINF1	Microsatellite (splice donor variant +1 more)	not provided	GUncertain significance
Select item 1354977	NM_002615.7(SERPINF1):c.83A>C (p.Glu28Ala)	SERPINF1 (E28A)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1615450	NM_002615.7(SERPINF1):c.84+13G>A	SERPINF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1909320	NM_002615.7(SERPINF1):c.84+14C>T	SERPINF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1665650	NM_002615.7(SERPINF1):c.84+15G>A	SERPINF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 321998	NM_002615.7(SERPINF1):c.85-14C>T	SERPINF1	Single nucleotide variant (intron variant)	Osteogenesis imperfecta type 6 +1 more	GConflicting classifications of pathogenicity
Select item 1672355	NM_002615.7(SERPINF1):c.85-13T>G	SERPINF1	Single nucleotide variant (intron variant)	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 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 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 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 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 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 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 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 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 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 2971055	NM_002615.7(SERPINF1):c.172_236del (p.Val58fs)	SERPINF1, LOC130059891 +1 more (V58fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
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 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 289666	NM_002615.7(SERPINF1):c.202G>C (p.Val68Leu)	LOC130059891, SERPINF1 (V68L)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta +2 more	GConflicting classifications of pathogenicity
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 322000	NM_002615.7(SERPINF1):c.215C>T (p.Thr72Met)	SERPINF1 (T72M)	Single nucleotide variant (missense variant +1 more)	not specified +3 more	GBenign
Select item 1505700	NM_002615.7(SERPINF1):c.224C>T (p.Thr75Met)	SERPINF1 (T75M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1586952	NM_002615.7(SERPINF1):c.225G>C (p.Thr75=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 721861	NM_002615.7(SERPINF1):c.225G>A (p.Thr75=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 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 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 218613	NM_002615.7(SERPINF1):c.242C>G (p.Ser81Cys)	LOC130059892, SERPINF1 (S81C)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta +3 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 2736388	NM_002615.7(SERPINF1):c.283+1G>T	LOC130059892, SERPINF1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1512752	NM_002615.7(SERPINF1):c.284-2A>G	SERPINF1	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1925693	NM_002615.7(SERPINF1):c.284G>A (p.Gly95Glu)	SERPINF1 (G95E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1623829	NM_002615.7(SERPINF1):c.288G>A (p.Ala96=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 426454	NM_002615.7(SERPINF1):c.295C>T (p.Arg99Ter)	SERPINF1 (R99*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic
Select item 1992805	NM_002615.7(SERPINF1):c.307A>G (p.Ile103Val)	SERPINF1 (I103V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1049090	NM_002615.7(SERPINF1):c.317G>A (p.Arg106Gln)	SERPINF1 (R106Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1922504	NM_002615.7(SERPINF1):c.349_356dup (p.His119fs)	SERPINF1 (H119fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 2114122	NM_002615.7(SERPINF1):c.355C>T (p.His119Tyr)	SERPINF1 (H119Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2883456	NM_002615.7(SERPINF1):c.357T>C (p.His119=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2034160	NM_002615.7(SERPINF1):c.375C>T (p.Leu125=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1433533	NM_002615.7(SERPINF1):c.383C>T (p.Thr128Met)	SERPINF1 (T128M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 756933	NM_002615.7(SERPINF1):c.384G>A (p.Thr128=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1898784	NM_002615.7(SERPINF1):c.390_391inv (p.Ala131Thr)	SERPINF1 (A131T)	Inversion (missense variant +1 more)	not provided	GUncertain significance
Select item 322003	NM_002615.7(SERPINF1):c.390T>C (p.Thr130=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 2056102	NM_002615.7(SERPINF1):c.392C>T (p.Ala131Val)	SERPINF1 (A131V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 891887	NM_002615.7(SERPINF1):c.392C>A (p.Ala131Asp)	SERPINF1 (A131D)	Single nucleotide variant (missense variant +1 more)	not provided +1 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)	Osteogenesis imperfecta +3 more	GBenign
Select item 1430287	NM_002615.7(SERPINF1):c.397C>A (p.Gln133Lys)	SERPINF1 (Q133K)	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 2065555	NM_002615.7(SERPINF1):c.398A>G (p.Gln133Arg)	SERPINF1 (Q133R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1384411	NM_002615.7(SERPINF1):c.421C>T (p.Arg141Trp)	SERPINF1 (R141W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1702052	NM_002615.7(SERPINF1):c.426C>T (p.Ile142=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 738397	NM_002615.7(SERPINF1):c.427G>A (p.Val143Ile)	SERPINF1 (V143I)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1661849	NM_002615.7(SERPINF1):c.429C>G (p.Val143=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1412111	NM_002615.7(SERPINF1):c.438G>A (p.Lys146=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 1702053	NM_002615.7(SERPINF1):c.439+7C>T	SERPINF1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 734172	NM_002615.7(SERPINF1):c.439+8G>A	SERPINF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635177	NM_002615.7(SERPINF1):c.440-17G>C	SERPINF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1909884	NM_002615.7(SERPINF1):c.440-16C>T	SERPINF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1614350	NM_002615.7(SERPINF1):c.440-14C>A	SERPINF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2052932	NM_002615.7(SERPINF1):c.440-12G>A	SERPINF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1570768	NM_002615.7(SERPINF1):c.440-10C>T	SERPINF1	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 1505555	NM_002615.7(SERPINF1):c.441G>C (p.Lys147Asn)	SERPINF1 (K147N)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2689943	NM_002615.7(SERPINF1):c.446G>A (p.Arg149His)	SERPINF1 (R149H)	Single nucleotide variant (missense variant +1 more)	Osteogenesis imperfecta type 6 +1 more	GConflicting classifications of pathogenicity
Select item 773060	NM_002615.7(SERPINF1):c.448A>G (p.Ile150Val)	SERPINF1 (I150V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 2197050	NM_002615.7(SERPINF1):c.458G>T (p.Ser153Ile)	SERPINF1 (S153I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2016568	NM_002615.7(SERPINF1):c.478A>G (p.Lys160Glu)	SERPINF1 (K160E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2068378	NM_002615.7(SERPINF1):c.483A>G (p.Ser161=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1981427	NM_002615.7(SERPINF1):c.486T>C (p.Tyr162=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2137872	NM_002615.7(SERPINF1):c.498_499del (p.Arg167fs)	SERPINF1 (R167fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 684393	NM_002615.7(SERPINF1):c.509C>T (p.Thr170Met)	SERPINF1 (T170M)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 499150	NM_002615.7(SERPINF1):c.510G>A (p.Thr170=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1562224	NM_002615.7(SERPINF1):c.513C>T (p.Gly171=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1443216	NM_002615.7(SERPINF1):c.521G>A (p.Arg174His)	SERPINF1 (R174H)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1393353	NM_002615.7(SERPINF1):c.526G>A (p.Asp176Asn)	SERPINF1 (D176N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2833009	NM_002615.7(SERPINF1):c.528C>T (p.Asp176=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1962411	NM_002615.7(SERPINF1):c.553C>T (p.Gln185Ter)	SERPINF1 (Q185*)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 291232	NM_002615.7(SERPINF1):c.555G>A (p.Gln185=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2420088	NM_002615.7(SERPINF1):c.557C>T (p.Ala186Val)	SERPINF1 (A186V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1915402	NM_002615.7(SERPINF1):c.558G>A (p.Ala186=)	SERPINF1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

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