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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1168303	NC_000003.12:g.167735203T>C	SERPINI1	Single nucleotide variant (genic upstream transcript variant)	Familial encephalopathy with neuroserpin inclusion bodies +1 more	GBenign
Select item 1168304	NC_000003.12:g.167735251T>C	SERPINI1	Single nucleotide variant (genic upstream transcript variant)	Familial encephalopathy with neuroserpin inclusion bodies +1 more	GBenign
Select item 1438411	NM_001122752.2(SERPINI1):c.4G>T (p.Ala2Ser)	SERPINI1 (A2S)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2037121	NM_001122752.2(SERPINI1):c.5C>T (p.Ala2Val)	SERPINI1 (A2V)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1052211	NM_001122752.2(SERPINI1):c.10C>T (p.Leu4Phe)	SERPINI1 (L4F)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2119093	NM_001122752.2(SERPINI1):c.14G>T (p.Gly5Val)	SERPINI1 (G5V)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1552146	NM_001122752.2(SERPINI1):c.18C>A (p.Leu6=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 1391490	NM_001122752.2(SERPINI1):c.20T>C (p.Phe7Ser)	SERPINI1 (F7S)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 344118	NM_001122752.2(SERPINI1):c.21C>G (p.Phe7Leu)	SERPINI1 (F7L)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies +1 more	GBenign
Select item 2903691	NM_001122752.2(SERPINI1):c.28C>T (p.Leu10=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 1481037	NM_001122752.2(SERPINI1):c.31G>A (p.Val11Ile)	SERPINI1 (V11I)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2156345	NM_001122752.2(SERPINI1):c.32T>C (p.Val11Ala)	SERPINI1 (V11A)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2845773	NM_001122752.2(SERPINI1):c.38A>G (p.Gln13Arg)	SERPINI1 (Q13R)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 344119	NM_001122752.2(SERPINI1):c.40A>G (p.Ser14Gly)	SERPINI1 (S14G)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies +2 more	GBenign
Select item 1720172	NM_001122752.2(SERPINI1):c.41G>A (p.Ser14Asn)	SERPINI1 (S14N)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1513397	NM_001122752.2(SERPINI1):c.43A>G (p.Met15Val)	SERPINI1 (M15V)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1423861	NM_001122752.2(SERPINI1):c.47C>T (p.Ala16Val)	SERPINI1 (A16V)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 742918	NM_001122752.2(SERPINI1):c.48T>A (p.Ala16=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 344120	NM_001122752.2(SERPINI1):c.51A>G (p.Thr17=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies +1 more	GBenign
Select item 649612	NM_001122752.2(SERPINI1):c.53G>C (p.Gly18Ala)	SERPINI1 (G18A)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2821978	NM_001122752.2(SERPINI1):c.54G>A (p.Gly18=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 847169	NM_001122752.2(SERPINI1):c.55G>A (p.Ala19Thr)	SERPINI1 (A19T)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1721589	NM_001122752.2(SERPINI1):c.56C>T (p.Ala19Val)	SERPINI1 (A19V)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2748384	NM_001122752.2(SERPINI1):c.58A>G (p.Thr20Ala)	SERPINI1 (T20A)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2879279	NM_001122752.2(SERPINI1):c.60T>C (p.Thr20=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 955135	NM_001122752.2(SERPINI1):c.62_66dup (p.Glu23fs)	SERPINI1 (E23fs)	Duplication (frameshift variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1515744	NM_001122752.2(SERPINI1):c.61T>C (p.Phe21Leu)	SERPINI1 (F21L)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies +1 more	GUncertain significance
Select item 1720783	NM_001122752.2(SERPINI1):c.69G>C (p.Glu23Asp)	SERPINI1 (E23D)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1944107	NM_001122752.2(SERPINI1):c.74C>T (p.Ala25Val)	SERPINI1 (A25V)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 952379	NM_001122752.2(SERPINI1):c.76A>G (p.Ile26Val)	SERPINI1 (I26V)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies +1 more	GConflicting classifications of pathogenicity
Select item 235396	NM_001122752.2(SERPINI1):c.77T>C (p.Ile26Thr)	SERPINI1 (I26T)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1096526	NM_001122752.2(SERPINI1):c.84C>T (p.Asp28=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 1611127	NM_001122752.2(SERPINI1):c.90A>C (p.Ser30=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 466611	NM_001122752.2(SERPINI1):c.106C>T (p.Arg36Cys)	SERPINI1 (R36C)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 344121	NM_001122752.2(SERPINI1):c.106C>A (p.Arg36Ser)	SERPINI1 (R36S)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies +1 more	GBenign/Likely benign
Select item 1047456	NM_001122752.2(SERPINI1):c.107G>A (p.Arg36His)	SERPINI1 (R36H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1005716	NM_001122752.2(SERPINI1):c.109C>T (p.Leu37Phe)	SERPINI1 (L37F)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1495757	NM_001122752.2(SERPINI1):c.115G>A (p.Ala39Thr)	SERPINI1 (A39T)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2894259	NM_001122752.2(SERPINI1):c.132A>G (p.Glu44=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 1372834	NM_001122752.2(SERPINI1):c.133A>G (p.Asn45Asp)	SERPINI1 (N45D)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1388124	NM_001122752.2(SERPINI1):c.137T>C (p.Ile46Thr)	SERPINI1 (I46T)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2203461	NM_001122752.2(SERPINI1):c.140T>C (p.Leu47Pro)	SERPINI1 (L47P)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1059850	NM_001122752.2(SERPINI1):c.144C>A (p.Phe48Leu)	SERPINI1 (F48L)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1564660	NM_001122752.2(SERPINI1):c.147T>C (p.Ser49=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 1488882	NM_001122752.2(SERPINI1):c.152T>C (p.Leu51Ser)	SERPINI1 (L51S)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1715778	NM_001122752.2(SERPINI1):c.158T>C (p.Ile53Thr)	SERPINI1 (I53T)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 466612	NM_001122752.2(SERPINI1):c.166G>T (p.Ala56Ser)	SERPINI1 (A56S)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2889551	NM_001122752.2(SERPINI1):c.173G>A (p.Gly58Glu)	SERPINI1 (G58E)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 952710	NM_001122752.2(SERPINI1):c.175A>G (p.Met59Val)	SERPINI1 (M59V)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies +1 more	GUncertain significance
Select item 2006701	NM_001122752.2(SERPINI1):c.189G>A (p.Gly63=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 1141754	NM_001122752.2(SERPINI1):c.192C>T (p.Ala64=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 1138800	NM_001122752.2(SERPINI1):c.198A>G (p.Gly66=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 648312	NM_001122752.2(SERPINI1):c.200C>A (p.Ser67Tyr)	SERPINI1 (S67Y)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 965786	NM_001122752.2(SERPINI1):c.203C>A (p.Thr68Asn)	SERPINI1 (T68N)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 466613	NM_001122752.2(SERPINI1):c.208A>G (p.Lys70Glu)	SERPINI1 (K70E)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GBenign/Likely benign
Select item 1061057	NM_001122752.2(SERPINI1):c.217C>G (p.Arg73Gly)	SERPINI1 (R73G)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 466614	NM_001122752.2(SERPINI1):c.217C>T (p.Arg73Cys)	SERPINI1 (R73C)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 344123	NM_001122752.2(SERPINI1):c.218G>A (p.Arg73His)	SERPINI1 (R73H)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GBenign
Select item 2905332	NM_001122752.2(SERPINI1):c.219C>T (p.Arg73=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 1023386	NM_001122752.2(SERPINI1):c.220C>G (p.His74Asp)	SERPINI1 (H74D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 640378	NM_001122752.2(SERPINI1):c.221A>G (p.His74Arg)	SERPINI1 (H74R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2146271	NM_001122752.2(SERPINI1):c.228G>A (p.Met76Ile)	SERPINI1 (M76I)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies +1 more	GUncertain significance
Select item 2987729	NM_001122752.2(SERPINI1):c.236A>G (p.Asp79Gly)	SERPINI1 (D79G)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1469994	NM_001122752.2(SERPINI1):c.240C>G (p.Ser80Arg)	SERPINI1 (S80R)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 534956	NM_001122752.2(SERPINI1):c.248A>T (p.Asn83Ile)	SERPINI1 (N83I)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies +1 more	GConflicting classifications of pathogenicity
Select item 837983	NM_001122752.2(SERPINI1):c.250+5G>A	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1555940	NM_001122752.2(SERPINI1):c.250+9G>A	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2138153	NM_001122752.2(SERPINI1):c.250+11T>C	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 903552	NM_001122752.2(SERPINI1):c.250+13A>G	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GBenign
Select item 1541446	NM_001122752.2(SERPINI1):c.250+14G>C	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 1625327	NM_001122752.2(SERPINI1):c.251-18T>C	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 1169501	NM_001122752.2(SERPINI1):c.251-10C>G	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GBenign
Select item 796988	NM_001122752.2(SERPINI1):c.251-8T>C	SERPINI1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1089636	NM_001122752.2(SERPINI1):c.251-7C>T	SERPINI1	Single nucleotide variant (intron variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2831316	NM_001122752.2(SERPINI1):c.251-1G>C	SERPINI1	Single nucleotide variant (splice acceptor variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2060027	NM_001122752.2(SERPINI1):c.260T>C (p.Phe87Ser)	SERPINI1 (F87S)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies +1 more	GUncertain significance
Select item 2916050	NM_001122752.2(SERPINI1):c.268T>C (p.Leu90=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 344124	NM_001122752.2(SERPINI1):c.281C>T (p.Ser94Leu)	SERPINI1 (S94L)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GConflicting classifications of pathogenicity
Select item 534954	NM_001122752.2(SERPINI1):c.286A>G (p.Met96Val)	SERPINI1 (M96V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1971981	NM_001122752.2(SERPINI1):c.287T>C (p.Met96Thr)	SERPINI1 (M96T)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 344125	NM_001122752.2(SERPINI1):c.289G>A (p.Val97Ile)	SERPINI1 (V97I)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies +1 more	GBenign/Likely benign
Select item 2903650	NM_001122752.2(SERPINI1):c.293C>T (p.Thr98Ile)	SERPINI1 (T98I)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1155118	NM_001122752.2(SERPINI1):c.297T>C (p.Ala99=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 466615	NM_001122752.2(SERPINI1):c.297T>G (p.Ala99=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GBenign
Select item 1006954	NM_001122752.2(SERPINI1):c.302A>T (p.Glu101Val)	SERPINI1 (E101V)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1902023	NM_001122752.2(SERPINI1):c.303G>A (p.Glu101=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 1097798	NM_001122752.2(SERPINI1):c.306C>T (p.Ser102=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 1014022	NM_001122752.2(SERPINI1):c.311A>T (p.Tyr104Phe)	SERPINI1 (Y104F)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2899371	NM_001122752.2(SERPINI1):c.312T>C (p.Tyr104=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 2001234	NM_001122752.2(SERPINI1):c.313G>A (p.Val105Met)	SERPINI1 (V105M)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 946508	NM_001122752.2(SERPINI1):c.316A>G (p.Met106Val)	SERPINI1 (M106V)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1466575	NM_001122752.2(SERPINI1):c.317T>A (p.Met106Lys)	SERPINI1 (M106K)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 840548	NM_001122752.2(SERPINI1):c.332C>T (p.Ser111Phe)	SERPINI1 (S111F)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1394269	NM_001122752.2(SERPINI1):c.336G>C (p.Leu112Phe)	SERPINI1 (L112F)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1036523	NM_001122752.2(SERPINI1):c.340G>T (p.Val114Leu)	SERPINI1 (V114L)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 466616	NM_001122752.2(SERPINI1):c.340G>A (p.Val114Met)	SERPINI1 (V114M)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies +1 more	GLikely benign
Select item 1137644	NM_001122752.2(SERPINI1):c.342G>A (p.Val114=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign
Select item 1039743	NM_001122752.2(SERPINI1):c.350G>A (p.Gly117Glu)	SERPINI1 (G117E)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 1937254	NM_001122752.2(SERPINI1):c.352T>C (p.Phe118Leu)	SERPINI1 (F118L)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2990975	NM_001122752.2(SERPINI1):c.360C>T (p.Val120=)	SERPINI1	Single nucleotide variant (synonymous variant)	Familial encephalopathy with neuroserpin inclusion bodies	GLikely benign

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