ClinVar for Gene (Select 2160) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380992	NM_000128.4(F11):c.434A>G (p.His145Arg)	F11 (H145R)	Single nucleotide variant (missense variant)	Hereditary factor XI deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 3380991	NM_000128.4(F11):c.295del (p.Ser99fs)	F11 (S99fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3379573	NM_000128.4(F11):c.485G>A (p.Arg162His)	F11 (R162H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3377453	NM_000128.4(F11):c.717dup (p.Thr240fs)	F11 (T240fs)	Duplication (frameshift variant)	Hereditary factor XI deficiency disease	GPathogenic
Select item 3375384	NM_000128.4(F11):c.1840T>G (p.Tyr614Asp)	F11, F11-AS1 (Y614D)	Single nucleotide variant (missense variant +1 more)	Hereditary factor XI deficiency disease	GLikely pathogenic
Select item 3366621	NM_000128.4(F11):c.296C>A (p.Ser99Tyr)	F11 (S99Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336310	NM_000128.4(F11):c.126C>A (p.Ser42Arg)	F11 (S42R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276925	NM_000128.4(F11):c.1708G>A (p.Ala570Thr)	F11, F11-AS1 (A570T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276924	NM_000128.4(F11):c.652G>A (p.Val218Ile)	F11 (V218I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276923	NM_000128.4(F11):c.1094G>C (p.Gly365Ala)	F11 (G365A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3250464	NM_000128.4(F11):c.1135+4A>C	F11	Single nucleotide variant (intron variant)	Hereditary factor XI deficiency disease	GUncertain significance
Select item 3246717	NC_000004.11:g.(?_186064502)_(187630981_?)dup	ANKRD37, CCDC110 +15 more	Duplication	not provided	GUncertain significance
Select item 3246702	NC_000004.11:g.(?_187191159)_(187196946_?)del	F11	Deletion	not provided	GPathogenic
Select item 3246701	NC_000004.11:g.(?_187207549)_(187209969_?)del	F11	Deletion	not provided	GPathogenic
Select item 3246700	NC_000004.11:g.(?_187205226)_(187209969_?)del	F11	Deletion	not provided	GPathogenic
Select item 3246699	NC_000004.11:g.(?_187186995)_(187209969_?)del	F11	Deletion	not provided	GPathogenic
Select item 3241954	NM_000128.4(F11):c.1321del (p.Ile441fs)	F11 (I441fs)	Deletion (frameshift variant)	Hereditary factor XI deficiency disease	GPathogenic
Select item 3234695	NM_000128.4(F11):c.45A>C (p.Ser15=)	F11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3091393	NM_000128.4(F11):c.920A>T (p.Asp307Val)	F11 (D307V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091392	NM_000128.4(F11):c.877T>G (p.Ser293Ala)	F11 (S293A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091391	NM_000128.4(F11):c.50C>G (p.Ser17Cys)	F11 (S17C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091390	NM_000128.4(F11):c.412G>C (p.Glu138Gln)	F11 (E138Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091389	NM_000128.4(F11):c.196C>T (p.Pro66Ser)	F11 (P66S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3091387	NM_000128.4(F11):c.1228C>T (p.Pro410Ser)	F11 (P410S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091386	NM_000128.4(F11):c.112G>T (p.Val38Phe)	F11 (V38F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091385	NM_000128.4(F11):c.1009G>A (p.Ala337Thr)	F11 (A337T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3062804	GRCh37/hg19 4q27-35.2(chr4:123399154-190957473)x3	FAT1, FAT4 +197 more	Copy number gain	not specified	GPathogenic
Select item 3062803	GRCh37/hg19 4q32.1-35.2(chr4:161589441-190957473)x1	AADAT, ACSL1 +85 more	Copy number loss	not specified	GPathogenic
Select item 3062767	GRCh37/hg19 4q24-35.2(chr4:101203509-190957473)x3	AADAT, ABCE1 +286 more	Copy number gain	not specified	GPathogenic
Select item 3049951	NM_000128.4(F11):c.26A>G (p.His9Arg)	F11 (H9R)	Single nucleotide variant (missense variant)	F11-related disorder	GUncertain significance
Select item 3048113	NC_000004.12:g.186265849A>G	F11	Single nucleotide variant	F11-related disorder	GLikely benign
Select item 3024634	GRCh37/hg19 4q32.3-35.2(chr4:169060637-191154276)x1	ENPP6, F11 +68 more	Copy number loss	not provided	GPathogenic
Select item 3024631	GRCh37/hg19 4p12-q35.2(chr4:45455621-191003541)x3	HPGDS, SCRG1 +537 more	Copy number gain	not provided	GPathogenic
Select item 3024032	NM_000128.4(F11):c.1512del (p.Gly505fs)	F11, F11-AS1 (G505fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 3023124	NM_000128.4(F11):c.865+14T>C	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3019204	NM_000128.4(F11):c.1029-20C>A	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3016757	NM_000128.4(F11):c.1716+6dup	F11, F11-AS1	Duplication (intron variant)	not provided	GLikely benign
Select item 3015867	NM_000128.4(F11):c.1717-4C>T	F11, F11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 3013766	NM_000128.4(F11):c.433del (p.His145fs)	F11 (H145fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2990950	NM_000128.4(F11):c.1254C>T (p.Gly418=)	F11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2987206	NM_000128.4(F11):c.756-17C>T	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985207	NM_000128.4(F11):c.1481-20C>G	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2980320	NM_000128.4(F11):c.756-11G>T	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978759	NM_000128.4(F11):c.1136-14T>C	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2978110	NM_000128.4(F11):c.326-14G>C	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2973795	NM_000128.4(F11):c.1239A>G (p.Arg413=)	F11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965947	NM_000128.4(F11):c.984G>A (p.Gln328=)	F11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2964316	NM_000128.4(F11):c.966C>G (p.Thr322=)	F11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960640	NM_000128.4(F11):c.1735C>T (p.Leu579=)	F11, F11-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2959001	NM_000128.4(F11):c.304C>T (p.Gln102Ter)	F11 (Q102*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2920099	NM_000128.4(F11):c.516A>T (p.Thr172=)	F11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2919909	NM_000128.4(F11):c.596-4G>A	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2918345	NM_000128.4(F11):c.218+18T>C	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2916020	NM_000128.4(F11):c.1717-16T>G	F11, F11-AS1	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2913661	NM_000128.4(F11):c.1577-11dup	F11, F11-AS1	Duplication (intron variant)	not provided	GBenign
Select item 2913618	NM_000128.4(F11):c.1136-13G>A	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2912840	NM_000128.4(F11):c.219-11dup	F11	Duplication (intron variant)	not provided	GBenign
Select item 2912626	NM_000128.4(F11):c.1304+11C>A	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907358	NM_000128.4(F11):c.1304+11C>T	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2906403	NM_000128.4(F11):c.459A>T (p.Thr153=)	F11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2906243	NM_000128.4(F11):c.1627G>T (p.Glu543Ter)	F11, F11-AS1 (E543*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2905954	NM_000128.4(F11):c.702C>T (p.Pro234=)	F11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903952	NM_000128.4(F11):c.1304+8C>A	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2903512	NM_000128.4(F11):c.1717-17G>C	F11, F11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2902247	NM_000128.4(F11):c.219-19G>A	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2900214	NM_000128.4(F11):c.432C>T (p.Val144=)	F11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2896634	NM_000128.4(F11):c.1481-17C>T	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2895485	NM_000128.4(F11):c.744A>G (p.Lys248=)	F11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2894546	NM_000128.4(F11):c.218+19A>G	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893640	NM_000128.4(F11):c.1777A>T (p.Thr593Ser)	F11, F11-AS1 (T593S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 2893301	NM_000128.4(F11):c.1577-11A>T	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893298	NM_000128.4(F11):c.1577-11del	F11, F11-AS1	Deletion (intron variant)	not provided	GBenign
Select item 2891998	NM_000128.4(F11):c.1062A>G (p.Gly354=)	F11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2891798	NM_000128.4(F11):c.219-20T>C	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2891264	NM_000128.4(F11):c.1821T>C (p.Val607=)	F11, F11-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2891221	NM_000128.4(F11):c.363G>A (p.Lys121=)	F11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2890308	NM_000128.4(F11):c.1716+8_1716+9del	F11, F11-AS1	Microsatellite (intron variant)	not provided	GLikely benign
Select item 2890105	NM_000128.4(F11):c.1028+8A>C	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2889386	NM_000128.4(F11):c.1576+11T>C	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2888649	NM_000128.4(F11):c.568C>T (p.Leu190=)	F11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887401	NM_000128.4(F11):c.456C>A (p.Ala152=)	F11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2887383	NM_000128.4(F11):c.325+7T>A	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2886579	NM_000128.4(F11):c.1369_1370dup (p.Asp457fs)	F11 (D457fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2884731	NM_000128.4(F11):c.596-4G>T	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2884623	NM_000128.4(F11):c.1710T>C (p.Ala570=)	F11, F11-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2884344	NM_000128.4(F11):c.201T>C (p.Ser67=)	F11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2883287	NM_000128.4(F11):c.1716+7G>T	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2883208	NM_000128.4(F11):c.720C>T (p.Thr240=)	F11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882955	NM_000128.4(F11):c.219-4dup	F11	Duplication (intron variant)	not provided	GBenign
Select item 2882665	NM_000128.4(F11):c.1481-14T>C	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2882664	NM_000128.4(F11):c.1481-15del	F11, F11-AS1	Deletion (intron variant)	not provided	GLikely benign
Select item 2880232	NM_000128.4(F11):c.1717-17G>A	F11, F11-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2879985	NM_000128.4(F11):c.326-20T>C	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2875436	NM_000128.4(F11):c.586del (p.Ser196fs)	F11 (S196fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2858560	NM_000128.4(F11):c.1481-8A>T	F11, F11-AS1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2851505	NM_000128.4(F11):c.1725G>C (p.Ser575=)	F11, F11-AS1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2848145	NM_000128.4(F11):c.979del (p.Cys327fs)	F11 (C327fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2803780	NM_000128.4(F11):c.56-9A>G	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2788858	NM_000128.4(F11):c.865+7T>C	F11	Single nucleotide variant (intron variant)	not provided	GLikely benign

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