Related gene-specific medical variations for Gene (Select 3053) - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067218	NM_000185.4(SERPIND1):c.437A>T (p.Asn146Ile)	PI4KA, SERPIND1 (N146I)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3055203	NM_000185.4(SERPIND1):c.420G>C (p.Val140=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	SERPIND1-related condition	GLikely benign
Select item 3051436	NM_000185.4(SERPIND1):c.1338C>T (p.Asn446=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	SERPIND1-related condition	GLikely benign
Select item 3049326	NM_000185.4(SERPIND1):c.286G>A (p.Val96Ile)	PI4KA, SERPIND1 (V96I)	Single nucleotide variant (missense variant +1 more)	SERPIND1-related condition	GLikely benign
Select item 3049069	NM_000185.4(SERPIND1):c.830C>T (p.Ala277Val)	PI4KA, SERPIND1 (A277V)	Single nucleotide variant (missense variant +1 more)	SERPIND1-related condition	GLikely benign
Select item 3043506	NM_000185.4(SERPIND1):c.999C>T (p.Leu333=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	SERPIND1-related condition	GLikely benign
Select item 3041598	NM_000185.4(SERPIND1):c.118C>T (p.Pro40Ser)	PI4KA, SERPIND1 (P40S)	Single nucleotide variant (missense variant +1 more)	SERPIND1-related condition	GLikely benign
Select item 3033976	NM_000185.4(SERPIND1):c.1325C>T (p.Thr442Met)	PI4KA, SERPIND1 (T442M)	Single nucleotide variant (missense variant +1 more)	SERPIND1-related condition	GLikely benign
Select item 3030144	NM_000185.4(SERPIND1):c.465C>T (p.Pro155=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	SERPIND1-related condition	GLikely benign
Select item 3027360	NM_000185.4(SERPIND1):c.1441G>A (p.Glu481Lys)	PI4KA, SERPIND1 (E481K)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3026677	NM_000185.4(SERPIND1):c.1164-6G>T	PI4KA, SERPIND1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3025672	NM_000185.4(SERPIND1):c.973A>G (p.Met325Val)	PI4KA, SERPIND1 (M325V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2652918	NM_000185.4(SERPIND1):c.1403G>A (p.Arg468His)	PI4KA, SERPIND1 (R468H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2652917	NM_000185.4(SERPIND1):c.1395C>T (p.Thr465=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2652916	NM_000185.4(SERPIND1):c.1107C>T (p.Leu369=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2652915	NM_000185.4(SERPIND1):c.18C>T (p.Asn6=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2608699	NM_000185.4(SERPIND1):c.800T>G (p.Met267Arg)	PI4KA, SERPIND1 (M267R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2572128	NM_000185.4(SERPIND1):c.1338C>A (p.Asn446Lys)	PI4KA, SERPIND1 (N446K)	Single nucleotide variant (missense variant +1 more)	Thrombus	GUncertain significance
Select item 2572113	NM_000185.4(SERPIND1):c.1147A>T (p.Lys383Ter)	PI4KA, SERPIND1 (K383*)	Single nucleotide variant (nonsense +1 more)	Hemorrhage	GLikely pathogenic
Select item 2507384	NM_000185.4(SERPIND1):c.218G>A (p.Gly73Glu)	PI4KA, SERPIND1 (G73E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2490816	NM_000185.4(SERPIND1):c.863T>C (p.Met288Thr)	SERPIND1, PI4KA (M288T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2470000	NM_000185.4(SERPIND1):c.622C>T (p.Arg208Cys)	PI4KA, SERPIND1 (R208C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2320647	NM_000185.4(SERPIND1):c.229G>A (p.Asp77Asn)	PI4KA, SERPIND1 (D77N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2260829	NM_000185.4(SERPIND1):c.1396C>G (p.Gln466Glu)	PI4KA, SERPIND1 (Q466E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2255600	NM_000185.4(SERPIND1):c.532C>T (p.His178Tyr)	PI4KA, SERPIND1 (H178Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2244253	NM_000185.4(SERPIND1):c.512G>A (p.Gly171Glu)	SERPIND1, PI4KA (G171E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2240949	NM_000185.4(SERPIND1):c.40A>G (p.Ile14Val)	SERPIND1, PI4KA (I14V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2229137	NM_000185.4(SERPIND1):c.1207T>C (p.Tyr403His)	PI4KA, SERPIND1 (Y403H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1804598	NM_000185.4(SERPIND1):c.1168C>T (p.Arg390Ter)	SERPIND1, PI4KA (R390*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 1695036	NM_000185.4(SERPIND1):c.941G>A (p.Arg314Gln)	PI4KA, SERPIND1 (R314Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1684359	NM_000185.4(SERPIND1):c.488G>C (p.Gly163Ala)	PI4KA, SERPIND1 (G163A)	Single nucleotide variant (missense variant +1 more)	Heparin cofactor II deficiency	GUncertain significance
Select item 1676783	NM_000185.4(SERPIND1):c.700C>T (p.Leu234Phe)	PI4KA, SERPIND1 (L234F)	Single nucleotide variant (missense variant +1 more)	Heparin cofactor II deficiency	GUncertain significance
Select item 1676740	NM_000185.4(SERPIND1):c.161T>G (p.Leu54Arg)	PI4KA, SERPIND1 (L54R)	Single nucleotide variant (missense variant +1 more)	Heparin cofactor II deficiency	GUncertain significance
Select item 1675876	NM_000185.4(SERPIND1):c.749T>C (p.Ile250Thr)	PI4KA, SERPIND1 (I250T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1302931	NM_000185.4(SERPIND1):c.1070T>C (p.Ile357Thr)	PI4KA, SERPIND1 (I357T)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1269862	NM_000185.4(SERPIND1):c.285C>T (p.Ile95=)	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 1268540	NM_058004.4(PI4KA):c.2328+13650G>A	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1260560	NM_058004.4(PI4KA):c.2328+6181A>G	PI4KA, SERPIND1	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 930228	NM_000185.4(SERPIND1):c.220dup (p.Glu74fs)	PI4KA, SERPIND1 (E74fs)	Duplication (frameshift variant +1 more)	Heparin cofactor II deficiency	GUncertain significance
Select item 809323	NM_000185.4(SERPIND1):c.842T>C (p.Ile281Thr)	PI4KA, SERPIND1 (I281T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 788340	NM_000185.4(SERPIND1):c.231C>A (p.Asp77Glu)	PI4KA, SERPIND1 (D77E)	Single nucleotide variant (missense variant +1 more)	Heparin cofactor II deficiency +1 more	GConflicting classifications of pathogenicity
Select item 781609	NM_000185.4(SERPIND1):c.260G>A (p.Ser87Asn)	PI4KA, SERPIND1 (S87N)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 731703	NM_000185.4(SERPIND1):c.467T>C (p.Val156Ala)	PI4KA, SERPIND1 (V156A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 710163	NM_000185.4(SERPIND1):c.1164-5T>C	PI4KA, SERPIND1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 627233	NM_000185.4(SERPIND1):c.1409C>T (p.Thr470Ile)	PI4KA, SERPIND1 (T470I)	Single nucleotide variant (missense variant +1 more)	Deep venous thrombosis	GUncertain significance
Select item 626989	NM_000185.4(SERPIND1):c.1333G>C (p.Val445Leu)	PI4KA, SERPIND1 (V445L)	Single nucleotide variant (missense variant +1 more)	Thrombotic stroke	GUncertain significance
Select item 393085	NM_000185.4(SERPIND1):c.980A>C (p.Gln327Pro)	PI4KA, SERPIND1 (Q327P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 14955	NM_000185.4(SERPIND1):c.1385C>T (p.Pro462Leu)	PI4KA, SERPIND1 (P462L)	Single nucleotide variant (missense variant +1 more)	Heparin cofactor II deficiency	GPathogenic
Select item 14954	NM_000185.4(SERPIND1):c.1429_1430del (p.Phe477fs)	PI4KA, SERPIND1 (F477fs)	Deletion (frameshift variant +1 more)	Heparin cofactor II deficiency	GPathogenic
Select item 14953	NM_000185.4(SERPIND1):c.321dup (p.Val108fs)	PI4KA, SERPIND1 (V108fs)	Duplication (frameshift variant +1 more)	Heparin cofactor II deficiency	GPathogenic
Select item 14952	NM_000185.4(SERPIND1):c.623G>A (p.Arg208His)	PI4KA, SERPIND1 (R208H)	Single nucleotide variant (missense variant +1 more)	Heparin cofactor II deficiency	GBenign

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Links from Gene

Items: 51