SERPINI1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145614	GRCh38/hg38 3q13.11-29(chr3:103426882-198110178)x3	BPESC1, BTLA +2645 more	Copy number gain	See cases	GPathogenic
Select item 57982	GRCh38/hg38 3q24-26.32(chr3:147442566-178522531)x3	LOC129937944, LOC129937945 +630 more	Copy number gain	See cases	GPathogenic
Select item 57983	GRCh38/hg38 3q24-29(chr3:147521892-198096565)x3	BDH1, C3orf33 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150609	GRCh38/hg38 3q25.1-29(chr3:152100512-198118383)x3	LINC00578, LINC00880 +1317 more	Copy number gain	See cases	GPathogenic
Select item 154213	GRCh38/hg38 3q25.31-29(chr3:156118441-198125115)x3	PAK2, PARL +1246 more	Copy number gain	See cases	GPathogenic
Select item 152257	GRCh38/hg38 3q25.31-29(chr3:156321878-198113452)x3	LOC129937828, LOC129937829 +1244 more	Copy number gain	See cases	GPathogenic
Select item 57984	GRCh38/hg38 3q25.31-29(chr3:157293378-198134727)x3	LOC129938023, LOC129938024 +1200 more	Copy number gain	See cases	GPathogenic
Select item 57993	GRCh38/hg38 3q25.32-26.31(chr3:158141556-172788324)x3	ACTRT3, ARL14 +303 more	Copy number gain	See cases	GPathogenic
Select item 150519	GRCh38/hg38 3q26.1-26.33(chr3:165158611-180130168)x3	LOC129389166, LOC129389167 +306 more	Copy number gain	See cases	GPathogenic
Select item 155627	GRCh38/hg38 3q26.1-29(chr3:166137209-198125115)x3	ABCC5, ABCC5-AS1 +1064 more	Copy number gain	See cases	GPathogenic
Select item 147458	GRCh38/hg38 3q26.1-26.2(chr3:166831737-170631211)x3	ACTRT3, CLDN11 +101 more	Copy number gain	See cases	GUncertain significance
Select item 153893	GRCh38/hg38 3q26.1-28(chr3:167717962-188365272)x3	ABCC5, ABCC5-AS1 +627 more	Copy number gain	See cases	GLikely pathogenic
Select item 369413	NM_007217.4(PDCD10):c.-438G>C	LOC129937857, PDCD10 +1 more	Single nucleotide variant (5 prime UTR variant)	SERPINI1-related condition +2 more	GConflicting classifications of pathogenicity
Select item 1168303	NC_000003.12:g.167735203T>C	SERPINI1	Single nucleotide variant (genic upstream transcript variant)	Familial encephalopathy with neuroserpin inclusion bodies	GBenign
Select item 1168304	NC_000003.12:g.167735251T>C	SERPINI1	Single nucleotide variant (genic upstream transcript variant)	Familial encephalopathy with neuroserpin inclusion bodies	GBenign
Select item 344113	NM_001122752.2(SERPINI1):c.-84GGAGC[3]	SERPINI1	Microsatellite (5 prime UTR variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 344114	NM_001122752.2(SERPINI1):c.-23G>A	SERPINI1	Single nucleotide variant (5 prime UTR variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 901064	NM_001122752.2(SERPINI1):c.-19+6C>T	SERPINI1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 901065	NM_001122752.2(SERPINI1):c.-19+22G>T	SERPINI1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 344115	NM_001122752.2(SERPINI1):c.-19+48C>T	SERPINI1	Single nucleotide variant (5 prime UTR variant +1 more)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 344116	NM_001122752.2(SERPINI1):c.-19+92G>A	PDCD10, SERPINI1	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebral cavernous malformation 3 +1 more	GBenign
Select item 344117	NM_001122752.2(SERPINI1):c.-19+117A>G	PDCD10, SERPINI1	Single nucleotide variant (5 prime UTR variant +1 more)	Cerebral cavernous malformation +1 more	GLikely benign
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)	not provided +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 +1 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 2320975	NM_001122752.2(SERPINI1):c.44T>C (p.Met15Thr)	SERPINI1 (M15T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases +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 +1 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 903551	NM_001122752.2(SERPINI1):c.95A>G (p.Asn32Ser)	SERPINI1 (N32S)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
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)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
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 7086	NM_001122752.2(SERPINI1):c.145T>C (p.Ser49Pro)	SERPINI1 (S49P)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GPathogenic
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 7087	NM_001122752.2(SERPINI1):c.154A>C (p.Ser52Arg)	SERPINI1 (S52R)	Single nucleotide variant (missense variant)	Familial encephalopathy with neuroserpin inclusion bodies	GPathogenic
Select item 2243122	NM_001122752.2(SERPINI1):c.157A>G (p.Ile53Val)	SERPINI1 (I53V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 344122	NM_001122752.2(SERPINI1):c.161C>T (p.Ala54Val)	SERPINI1 (A54V)	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	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 +1 more	GBenign/Likely benign
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)	Familial encephalopathy with neuroserpin inclusion bodies	GUncertain significance
Select item 2336924	NM_001122752.2(SERPINI1):c.226A>G (p.Met76Val)	SERPINI1 (M76V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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	GUncertain significance
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 1289463	NM_001122752.2(SERPINI1):c.251-198T>A	SERPINI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241625	NM_001122752.2(SERPINI1):c.251-139A>G	SERPINI1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278173	NM_001122752.2(SERPINI1):c.251-122G>C	SERPINI1	Single nucleotide variant (intron variant)	not provided	GBenign

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