C0015523[trait identifier] AND "Counsyl"[submitter] - ClinVar

Search results

Items: 94

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 553189	NM_000128.3(F11):c.-456G>A	F11	Single nucleotide variant	Hereditary factor XI deficiency disease	GUncertain significance
Select item 348371	NM_000128.4(F11):c.-54G>A	F11	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 552872	NM_000128.4(F11):c.2T>A (p.Met1Lys)	F11 (M1K)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 551125	NM_000128.4(F11):c.16C>T (p.Gln6Ter)	F11 (Q6*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370594	NM_000128.4(F11):c.25_28del (p.His9fs)	F11 (H9fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 550706	NM_000128.4(F11):c.55+6delinsGAG	F11	Indel (intron variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 189122	NM_000128.4(F11):c.67C>T (p.Gln23Ter)	F11 (Q23*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 550659	NM_000128.4(F11):c.155dup (p.Tyr52Ter)	F11 (Y52*)	Duplication (nonsense)	not provided +1 more	GLikely pathogenic
Select item 11901	NM_000128.4(F11):c.166T>C (p.Cys56Arg)	F11 (C56R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 68191	NM_000128.4(F11):c.188C>T (p.Ala63Val)	F11 (A63V)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 370747	NM_000128.4(F11):c.218+1G>A	F11	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
Select item 488986	NM_000128.4(F11):c.218+4A>G	F11	Single nucleotide variant (intron variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 370221	NM_000128.4(F11):c.219G>A (p.Trp73Ter)	F11 (W73*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 371284	NM_000128.4(F11):c.291del (p.Tyr98fs)	F11 (Y98fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 68192	NM_000128.4(F11):c.302A>G (p.Lys101Arg)	F11 (K101R)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GConflicting classifications of pathogenicity
Select item 188810	NM_000128.4(F11):c.325G>A (p.Ala109Thr)	F11 (A109T)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 554481	NM_000128.4(F11):c.325+5G>T	F11	Single nucleotide variant (intron variant)	Hereditary factor XI deficiency disease +1 more	GUncertain significance
Select item 371555	NM_000128.4(F11):c.326-1G>A	F11	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 551397	NM_000128.4(F11):c.374A>G (p.Tyr125Cys)	F11 (Y125C)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 188913	NM_000128.4(F11):c.400C>T (p.Gln134Ter)	F11 (Q134*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 11891	NM_000128.4(F11):c.403G>T (p.Glu135Ter)	F11 (E135*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease +2 more	GPathogenic
Select item 188914	NM_000128.4(F11):c.408C>A (p.Cys136Ter)	F11 (C136*)	Single nucleotide variant (nonsense)	Abnormal bleeding +2 more	GPathogenic/Likely pathogenic
Select item 554924	NM_000128.4(F11):c.422C>T (p.Thr141Met)	F11 (T141M)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 555711	NM_000128.4(F11):c.449C>T (p.Thr150Met)	F11 (T150M)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GConflicting classifications of pathogenicity
Select item 429591	NM_000128.4(F11):c.484C>T (p.Arg162Cys)	F11 (R162C +1 more)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GUncertain significance
Select item 370695	NM_000128.4(F11):c.486-2A>G	F11	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 371238	NM_000128.4(F11):c.596-7_600del	F11	Deletion (splice acceptor variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 550222	NM_000128.4(F11):c.599G>A (p.Cys200Tyr)	F11 (C200Y)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GConflicting classifications of pathogenicity
Select item 558063	NM_000128.4(F11):c.644_649del (p.Ile215_Asp216del)	F11	Deletion (inframe_deletion)	Hereditary factor XI deficiency disease	GPathogenic/Likely pathogenic
Select item 552592	NM_000128.4(F11):c.680G>A (p.Gly227Asp)	F11 (G227D)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 188795	NM_000128.4(F11):c.682C>T (p.Arg228Ter)	F11 (R228*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 68196	NM_000128.4(F11):c.683G>A (p.Arg228Gln)	F11 (R228Q)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GUncertain significance
Select item 68197	NM_000128.4(F11):c.723C>G (p.Phe241Leu)	F11 (F241L)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 189094	NM_000128.4(F11):c.730C>T (p.Gln244Ter)	F11 (Q244*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 188920	NM_000128.4(F11):c.751C>T (p.Gln251Ter)	F11 (Q251*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 552888	NM_000128.4(F11):c.755+2T>C	F11	Single nucleotide variant (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 555730	NM_000128.4(F11):c.756A>T (p.Arg252Ser)	F11 (R252S)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 553190	NM_000128.4(F11):c.769del (p.Thr259fs)	F11 (T259fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 555638	NM_000128.4(F11):c.783G>C (p.Glu261Asp)	F11 (E261D)	Single nucleotide variant (missense variant)	Abnormal bleeding +1 more	GUncertain significance
Select item 551022	NM_000128.4(F11):c.803G>A (p.Arg268His)	F11 (R268H)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GUncertain significance
Select item 557666	NM_000128.4(F11):c.865+1G>C	F11	Single nucleotide variant (splice donor variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 11892	NM_000128.4(F11):c.901T>C (p.Phe301Leu)	F11 (F301L)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +2 more	GPathogenic
Select item 189129	NM_000128.4(F11):c.908del (p.Gly303fs)	F11 (G303fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 188757	NM_000128.4(F11):c.961_962del (p.Cys321fs)	F11 (C321fs)	Microsatellite (frameshift variant)	Hereditary factor XI deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 370362	NM_000128.4(F11):c.964_965del (p.Thr322fs)	F11 (T322fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 550462	NM_000128.4(F11):c.977G>A (p.Arg326His)	F11 (R326H)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 550141	NM_000128.4(F11):c.990dup (p.Thr331fs)	F11 (T331fs)	Duplication (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 554920	NM_000128.4(F11):c.990del (p.Phe330fs)	F11 (F330fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 555110	NM_000128.4(F11):c.1028+1G>A	F11	Single nucleotide variant (splice donor variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 188727	NM_000128.4(F11):c.1075del (p.Ile359fs)	F11 (I359fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 555420	NM_000128.4(F11):c.1084G>A (p.Gly362Arg)	F11 (G362R)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 551619	NM_000128.4(F11):c.1103G>C (p.Gly368Ala)	F11 (G368A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 189115	NM_000128.4(F11):c.1107C>A (p.Tyr369Ter)	F11 (Y369*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 553054	NM_000128.4(F11):c.1135+5G>A	F11	Single nucleotide variant (intron variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 555987	NM_000128.4(F11):c.1136-7_1136-4del	F11	Deletion (intron variant)	Hereditary factor XI deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 555640	NM_000128.4(F11):c.1171G>A (p.Gly391Arg)	F11 (G391R)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 188760	NM_000128.4(F11):c.1186C>T (p.Arg396Cys)	F11 (R396C)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GPathogenic/Likely pathogenic
Select item 550649	NM_000128.4(F11):c.1217A>C (p.His406Pro)	F11 (H406P)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 371658	NM_000128.4(F11):c.1232_1235del (p.Thr411fs)	F11 (T411fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 554679	NM_000128.4(F11):c.1234C>T (p.Gln412Ter)	F11 (Q412*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 371565	NM_000128.4(F11):c.1247G>A (p.Cys416Tyr)	F11 (C416Y)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 11903	NM_000128.4(F11):c.1253G>T (p.Gly418Val)	F11 (G418V)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 551366	NM_000128.4(F11):c.1273T>A (p.Trp425Arg)	F11 (W425R)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 555810	NM_000128.4(F11):c.1275G>C (p.Trp425Cys)	F11 (W425C)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 554922	NM_000128.4(F11):c.1283C>T (p.Thr428Ile)	F11 (T428I)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 556572	NM_000128.4(F11):c.1304+25_1304+28del	F11	Deletion (intron variant)	Hereditary factor XI deficiency disease	GLikely benign
Select item 371352	NM_000128.4(F11):c.1305-1G>A	F11	Single nucleotide variant (splice acceptor variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 189138	NM_000128.4(F11):c.1313C>A (p.Ser438Ter)	F11 (S438*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease	GPathogenic/Likely pathogenic
Select item 550660	NM_000128.4(F11):c.1329del (p.Val444fs)	F11 (V444fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 552815	NM_000128.4(F11):c.1362_1375del (p.Lys455fs)	F11 (K455fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 551948	NM_000128.4(F11):c.1380_1383del (p.Phe460fs)	F11 (F460fs)	Microsatellite (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 371138	NM_000128.4(F11):c.1390C>T (p.Gln464Ter)	F11 (Q464*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 285379	NM_000128.4(F11):c.1432G>A (p.Gly478Arg)	F11 (G478R)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 558170	NM_000128.4(F11):c.1472dup (p.Asn491fs)	F11 (N491fs)	Duplication (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 551595	NM_000128.4(F11):c.1478C>T (p.Thr493Ile)	F11 (T493I)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 556268	NM_000128.4(F11):c.1480+2T>C	F11	Single nucleotide variant (splice donor variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 551810	NM_000128.4(F11):c.1481-1G>C	F11, F11-AS1	Single nucleotide variant (splice acceptor variant)	Hereditary factor XI deficiency disease +1 more	GLikely pathogenic
Select item 370461	NM_000128.4(F11):c.1481-1G>T	F11, F11-AS1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 68179	NM_000128.4(F11):c.1517A>G (p.Asp506Gly)	F11, F11-AS1 (D506G)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 555904	NM_000128.4(F11):c.1546G>A (p.Val516Met)	F11, F11-AS1 (V516M)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GConflicting classifications of pathogenicity
Select item 370801	NM_000128.4(F11):c.1560dup (p.Tyr521fs)	F11, F11-AS1 (Y521fs)	Duplication (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 188887	NM_000128.4(F11):c.1556G>A (p.Trp519Ter)	F11, F11-AS1 (W519*)	Single nucleotide variant (nonsense)	Abnormal bleeding +2 more	GPathogenic/Likely pathogenic
Select item 189154	NM_000128.4(F11):c.1613C>T (p.Pro538Leu)	F11-AS1, F11 (P538L)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GPathogenic/Likely pathogenic
Select item 550369	NM_000128.4(F11):c.1620_1621dup (p.Thr541fs)	F11, F11-AS1 (T541fs)	Duplication (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 551223	NM_000128.4(F11):c.1627G>A (p.Glu543Lys)	F11, F11-AS1 (E543K)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GUncertain significance
Select item 371311	NM_000128.4(F11):c.1676_1682del (p.Ile559fs)	F11, F11-AS1 (I559fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 68186	NM_000128.4(F11):c.1693G>A (p.Glu565Lys)	F11, F11-AS1 (E565K)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 11890	NM_000128.4(F11):c.1716+1G>A	F11, F11-AS1	Single nucleotide variant (splice donor variant)	Hereditary factor XI deficiency disease +1 more	GPathogenic
Select item 553257	NM_000128.4(F11):c.1718G>A (p.Gly573Glu)	F11, F11-AS1 (G573E)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 553288	NM_000128.4(F11):c.1724C>A (p.Ser575Ter)	F11, F11-AS1 (S575*)	Single nucleotide variant (nonsense +1 more)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 554918	NM_000128.4(F11):c.1741T>C (p.Cys581Arg)	F11, F11-AS1 (C581R)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 371214	NM_000128.4(F11):c.1778C>T (p.Thr593Met)	F11, F11-AS1 (T593M)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 370342	NM_000128.4(F11):c.1789G>T (p.Glu597Ter)	F11, F11-AS1 (E597*)	Single nucleotide variant (nonsense +1 more)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 68188	NM_000128.4(F11):c.1789G>A (p.Glu597Lys)	F11, F11-AS1 (E597K)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 94