ClinVar for MedGen (Select 8770) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065582	NM_000128.4(F11):c.434A>C (p.His145Pro)	F11 (H145P)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 2664701	NM_000128.4(F11):c.485+1G>T	F11	Single nucleotide variant (synonymous variant +1 more)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 2637829	NM_000128.4(F11):c.688T>A (p.Cys230Ser)	F11 (C230S)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 2637513	NM_000128.4(F11):c.1831G>A (p.Val611Met)	F11, F11-AS1 (V611M)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 2585162	NM_000128.4(F11):c.1335C>G (p.Tyr445Ter)	F11 (Y445*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 2585031	NM_000128.4(F11):c.508A>T (p.Thr170Ser)	F11 (T170S)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 2582755	NM_000128.4(F11):c.1220C>A (p.Thr407Lys)	F11 (T407K)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 2582743	NM_000128.4(F11):c.691A>C (p.Thr231Pro)	F11 (T231P)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 2582715	NM_000128.4(F11):c.1634G>A (p.Cys545Tyr)	F11, F11-AS1 (C545Y)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 2581513	NM_000128.4(F11):c.752_755+25delinsT	F11	Indel (splice donor variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 2572153	NM_000128.4(F11):c.325+1G>T	F11	Single nucleotide variant (splice donor variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 2572130	NM_000128.4(F11):c.1388T>A (p.Val463Asp)	F11 (V463D)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 2572126	NM_000128.4(F11):c.1305-2A>G	F11	Single nucleotide variant (splice acceptor variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 2441319	NM_000128.4(F11):c.1469T>C (p.Val490Ala)	F11 (V490A)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 2440180	NM_000128.4(F11):c.1837G>A (p.Glu613Lys)	F11-AS1, F11 (E613K)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 2440173	NM_000128.4(F11):c.738del (p.Trp246fs)	F11 (W246fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1726788	NM_000128.4(F11):c.879_880delinsAATA (p.Ser294fs)	F11 (S294fs)	Indel (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1726585	NM_000128.4(F11):c.60T>A (p.Cys20Ter)	F11 (C20*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1726399	NM_000128.4(F11):c.963C>A (p.Cys321Ter)	F11 (C321*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1726377	NM_000128.4(F11):c.614del (p.Phe205fs)	F11 (F205fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1726048	NM_000128.4(F11):c.1408del (p.Asp470fs)	F11 (D470fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1725650	NM_000128.4(F11):c.38_39del (p.Phe13fs)	F11 (F13fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1725373	NM_000128.4(F11):c.668del (p.Ala223fs)	F11 (A223fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1725040	NM_000128.4(F11):c.228T>A (p.Cys76Ter)	F11 (C76*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1724959	NM_000128.4(F11):c.90del (p.Phe30fs)	F11 (F30fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1724482	NM_000128.4(F11):c.1351C>T (p.Gln451Ter)	F11 (Q451*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1724392	NM_000128.4(F11):c.729_735del (p.Gln244fs)	F11 (Q244fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1724343	NM_000128.4(F11):c.1365del (p.Glu456fs)	F11 (E456fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1724307	NM_000128.4(F11):c.415A>T (p.Arg139Ter)	F11 (R139*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1723919	NM_000128.4(F11):c.174_175dup (p.Phe59fs)	F11 (F59fs)	Microsatellite (frameshift variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1704201	NM_000128.4(F11):c.1633T>C (p.Cys545Arg)	F11, F11-AS1 (C545R)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 1703829	NM_000128.4(F11):c.719C>T (p.Thr240Ile)	F11 (T240I)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 1703828	NM_000128.4(F11):c.89T>C (p.Phe30Ser)	F11 (F30S)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 1703827	NM_000128.4(F11):c.791T>G (p.Leu264Trp)	F11 (L264W)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 1703826	NM_000128.4(F11):c.1138T>C (p.Cys380Arg)	F11 (C380R)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 1703259	Single allele	DBET, DUX4 +67 more	Deletion	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1684402	NM_000128.4(F11):c.1049T>C (p.Leu350Pro)	F11 (L350P)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 1684401	NM_000128.3(F11):c.-153T>G	F11	Single nucleotide variant	Hereditary factor XI deficiency disease	GUncertain significance
Select item 1684399	NM_000128.4(F11):c.55+6T>G	F11	Single nucleotide variant (intron variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 1684397	NM_000128.4(F11):c.560G>T (p.Gly187Val)	F11 (G187V)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 1684396	NM_000128.4(F11):c.973G>T (p.Val325Phe)	F11 (V325F)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1676751	NM_000128.4(F11):c.1852A>G (p.Ile618Val)	F11-AS1, F11 (I618V)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 1676750	NM_000128.4(F11):c.616C>T (p.Pro206Ser)	F11 (P206S)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1555323	NM_000128.4(F11):c.1481-9T>A	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1482231	NM_000128.4(F11):c.1060G>A (p.Gly354Arg)	F11 (G354R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1333005	Single allele	F11	Duplication	Hereditary factor XI deficiency disease	GUncertain significance
Select item 1333004	Single allele	F11	Deletion	Hereditary factor XI deficiency disease	GPathogenic
Select item 1324363	NM_000128.4(F11):c.1327C>T (p.Arg443Cys)	F11 (R443C)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 1185149	NM_000128.4(F11):c.1717-48A>G	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1185148	NM_000128.4(F11):c.1576+51C>A	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1185147	NM_000128.4(F11):c.1481-34G>T	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1185146	NM_000128.4(F11):c.-1-138A>C	F11	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1098510	NM_000128.4(F11):c.230T>C (p.Val77Ala)	F11 (V77A)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 992721	NM_000128.4(F11):c.1204C>T (p.Gln402Ter)	F11 (Q402*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 989873	NM_000128.4(F11):c.1683C>T (p.Ala561=)	F11, F11-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 973015	NM_000128.4(F11):c.1178C>T (p.Ala393Val)	F11 (A393V)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	Gnot provided
Select item 903658	NM_000128.4(F11):c.*817A>G	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 903657	NM_000128.4(F11):c.*763T>A	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 903656	NM_000128.4(F11):c.*609C>A	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 903655	NM_000128.4(F11):c.*551A>T	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 903593	NM_000128.4(F11):c.1305-14T>C	F11	Single nucleotide variant (intron variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 903592	NM_000128.4(F11):c.1304+12G>A	F11	Single nucleotide variant (intron variant)	Hereditary factor XI deficiency disease +3 more	GConflicting classifications of pathogenicity
Select item 903591	NM_000128.4(F11):c.1219A>G (p.Thr407Ala)	F11 (T407A)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GUncertain significance
Select item 903590	NM_000128.4(F11):c.1029-11T>C	F11	Single nucleotide variant (intron variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 901709	NM_000128.4(F11):c.*448A>G	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 901708	NM_000128.4(F11):c.*445C>T	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 901707	NM_000128.4(F11):c.*404A>G	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 901706	NM_000128.4(F11):c.*346A>G	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 901641	NM_000128.4(F11):c.642C>T (p.Asn214=)	F11	Single nucleotide variant (synonymous variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 901220	NM_000128.4(F11):c.*1039G>A	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 901160	NM_000128.4(F11):c.*186C>T	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary factor XI deficiency disease	GBenign
Select item 901159	NM_000128.4(F11):c.*175C>T	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary factor XI deficiency disease	GBenign
Select item 901158	NM_000128.4(F11):c.*174C>T	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 901157	NM_000128.4(F11):c.*1A>G	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant +1 more)	Hereditary factor XI deficiency disease +1 more	GBenign/Likely benign
Select item 901156	NM_000128.4(F11):c.1842C>T (p.Tyr614=)	F11, F11-AS1	Single nucleotide variant (synonymous variant +1 more)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 901093	NM_000128.4(F11):c.56-6T>C	F11	Single nucleotide variant (intron variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 900065	NM_000128.4(F11):c.*933C>G	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 900064	NM_000128.4(F11):c.*884C>T	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GLikely benign
Select item 900063	NM_000128.4(F11):c.*846T>C	F11, F11-AS1	Single nucleotide variant (3 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 899998	NM_000128.4(F11):c.1836C>T (p.Val612=)	F11-AS1, F11	Single nucleotide variant (synonymous variant +1 more)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 899997	NM_000128.4(F11):c.1777A>G (p.Thr593Ala)	F11, F11-AS1 (T593A)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 899996	NM_000128.4(F11):c.1480+4C>T	F11	Single nucleotide variant (intron variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 899995	NM_000128.4(F11):c.1416T>C (p.Tyr472=)	F11	Single nucleotide variant (synonymous variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 899923	NM_000128.4(F11):c.-57G>A	F11	Single nucleotide variant (5 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 899922	NM_000128.4(F11):c.-70G>A	F11	Single nucleotide variant (5 prime UTR variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 899921	NM_000128.3(F11):c.-164G>A	F11	Single nucleotide variant	Hereditary factor XI deficiency disease	GUncertain significance
Select item 899920	NM_000128.3(F11):c.-233C>T	F11	Single nucleotide variant	Hereditary factor XI deficiency disease	GUncertain significance
Select item 873465	NM_000128.4(F11):c.1608G>C (p.Lys536Asn)	F11, F11-AS1 (K536N)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 813261	Single allele	CYP4V2, F11 +1 more	Deletion	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 781735	NM_000128.4(F11):c.1020C>T (p.Asn340=)	F11	Single nucleotide variant (synonymous variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 767985	NM_000128.4(F11):c.453C>T (p.Tyr151=)	F11	Single nucleotide variant (synonymous variant)	Hereditary factor XI deficiency disease +1 more	GBenign/Likely benign
Select item 763423	NM_000128.4(F11):c.696T>C (p.His232=)	F11	Single nucleotide variant (synonymous variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 761229	NM_000128.4(F11):c.596-6G>A	F11	Single nucleotide variant (intron variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 737971	NM_000128.4(F11):c.1843G>A (p.Val615Met)	F11, F11-AS1 (V615M)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease +1 more	GLikely benign
Select item 731217	NM_000128.4(F11):c.539A>G (p.Lys180Arg)	F11 (K180R)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GBenign
Select item 720105	NM_000128.4(F11):c.861C>T (p.Ile287=)	F11	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 659228	NM_000128.4(F11):c.1275_1281dup (p.Thr428fs)	F11 (T428fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic
Select item 631944	NM_000128.4(F11):c.478G>T (p.Glu160Ter)	F11 (E160*)	Single nucleotide variant (nonsense)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 627369	NM_000128.4(F11):c.731A>G (p.Gln244Arg)	F11 (Q244R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 627368	NM_000128.4(F11):c.728C>T (p.Ser243Phe)	F11 (S243F)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease	GLikely pathogenic

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