ClinVar for Gene (Select 2165) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3349357	NM_001994.3(F13B):c.878G>T (p.Arg293Leu)	F13B (R293L)	Single nucleotide variant (missense variant)	F13B-related disorder	GUncertain significance
Select item 3348699	NM_001994.3(F13B):c.1805_1806delinsTC (p.Asn602Ile)	F13B (N602I)	Indel (missense variant)	F13B-related disorder	GUncertain significance
Select item 3337089	NM_001994.3(F13B):c.1979del (p.Arg660fs)	F13B (R660fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 3276944	NM_001994.3(F13B):c.91G>A (p.Glu31Lys)	F13B (E31K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276942	NM_001994.3(F13B):c.1244A>C (p.Tyr415Ser)	F13B (Y415S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276941	NM_001994.3(F13B):c.1217C>T (p.Ala406Val)	F13B (A406V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3256928	NM_001994.3(F13B):c.91G>T (p.Glu31Ter)	F13B (E31*)	Single nucleotide variant (nonsense)	Susceptibility to severe COVID-19	GLikely pathogenic
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3091419	NM_001994.3(F13B):c.942A>G (p.Ile314Met)	F13B (I314M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091418	NM_001994.3(F13B):c.926A>C (p.His309Pro)	F13B (H309P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091417	NM_001994.3(F13B):c.884G>A (p.Gly295Glu)	F13B (G295E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091416	NM_001994.3(F13B):c.1882A>T (p.Thr628Ser)	F13B (T628S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091414	NM_001994.3(F13B):c.1085A>G (p.Tyr362Cys)	F13B (Y362C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3063651	NM_001994.3(F13B):c.64+17A>T	F13B	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3051630	NM_001994.3(F13B):c.1227C>T (p.Asp409=)	F13B	Single nucleotide variant (synonymous variant)	F13B-related disorder	GLikely benign
Select item 2682715	NM_001994.3(F13B):c.943C>T (p.Arg315Cys)	F13B (R315C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2636960	NM_001994.3(F13B):c.1053dup (p.Lys352Ter)	F13B (K352*)	Duplication (nonsense +1 more)	F13B-related disorder	GLikely pathogenic
Select item 2627205	NM_001994.3(F13B):c.451+3A>G	F13B	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 2627097	NM_001994.3(F13B):c.1520GAG[1] (p.Gly508del)	F13B (G508del)	Microsatellite (inframe_indel +1 more)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 2627093	NM_001994.3(F13B):c.86A>T (p.His29Leu)	F13B (H29L)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 2615595	NM_001994.3(F13B):c.1825G>A (p.Gly609Ser)	F13B (G609S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2613252	NM_001994.3(F13B):c.275C>G (p.Thr92Ser)	F13B (T92S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2611690	NM_001994.3(F13B):c.457T>G (p.Cys153Gly)	F13B (C153G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2608482	NM_001994.3(F13B):c.863A>G (p.His288Arg)	F13B (H288R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591243	NM_001994.3(F13B):c.889A>G (p.Ile297Val)	F13B (I297V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2575501	NM_001994.3(F13B):c.535G>A (p.Glu179Lys)	F13B (E179K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2575500	NM_001994.3(F13B):c.1406A>G (p.Lys469Arg)	F13B (K469R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2573483	NM_001994.3(F13B):c.1803_1806delinsAAC (p.Asp601fs)	F13B (D601fs)	Indel (frameshift variant)	not specified	GUncertain significance
Select item 2572138	NM_001994.3(F13B):c.1700G>C (p.Cys567Ser)	F13B (C567S)	Single nucleotide variant (missense variant)	Thrombus	GUncertain significance
Select item 2535195	NM_001994.3(F13B):c.1763A>C (p.Glu588Ala)	F13B (E588A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2527791	NM_001994.3(F13B):c.676C>T (p.Pro226Ser)	F13B (P226S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2523866	NM_001994.3(F13B):c.1179T>A (p.Asn393Lys)	F13B (N393K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2482911	NM_001994.3(F13B):c.1348T>G (p.Cys450Gly)	F13B (C450G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409017	NM_001994.3(F13B):c.947G>A (p.Cys316Tyr)	F13B (C316Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2403338	NM_001994.3(F13B):c.131G>T (p.Ser44Ile)	F13B (S44I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2370645	NM_001994.3(F13B):c.1569G>A (p.Met523Ile)	F13B (M523I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2341010	NM_001994.3(F13B):c.890T>C (p.Ile297Thr)	F13B (I297T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2338586	NM_001994.3(F13B):c.1754C>G (p.Ser585Cys)	F13B (S585C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323488	NM_001994.3(F13B):c.1426G>T (p.Val476Phe)	F13B (V476F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253090	NM_001994.3(F13B):c.1601T>C (p.Val534Ala)	F13B (V534A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2252740	NM_001994.3(F13B):c.1138C>T (p.Arg380Cys)	F13B (R380C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234917	NM_001994.3(F13B):c.1462C>A (p.Gln488Lys)	F13B (Q488K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2222566	NM_001994.3(F13B):c.1051T>G (p.Ser351Ala)	F13B (S351A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1879127	GRCh37/hg19 1q31.3(chr1:196670448-197898389)x1	ASPM, C1orf53 +11 more	Copy number loss	not provided	GUncertain significance
Select item 1809264	GRCh37/hg19 1q25.3-32.3(chr1:181453460-213107248)x3	ASPM, IPO9 +211 more	Copy number gain	not provided	GPathogenic
Select item 1808698	GRCh37/hg19 1q31.2-32.1(chr1:193011753-199882947)x1	CFHR3, CFHR4 +22 more	Copy number loss	not provided	GPathogenic
Select item 1807694	GRCh37/hg19 1q31.1-32.1(chr1:189633885-199854163)x1	ASPM, ATP6V1G3 +28 more	Copy number loss	not provided	GLikely pathogenic
Select item 1698968	NM_001994.3(F13B):c.1152_1155dup (p.Pro386fs)	F13B (P386fs)	Duplication (frameshift variant)	Factor XIII, b subunit, deficiency of	GPathogenic
Select item 1676727	NM_001994.3(F13B):c.1079T>A (p.Val360Glu)	F13B (V360E)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 1527448	GRCh37/hg19 1q25.2-32.1(chr1:179413479-201764737)	ACBD6, APOBEC4 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527437	GRCh37/hg19 1q25.2-32.1(chr1:179073386-200192265)	ABL2, ACBD6 +82 more	Copy number loss	not specified	GPathogenic
Select item 1446722	NC_000001.10:g.(?_196621248)_(197447009_?)dup	ASPM, CFH +8 more	Duplication	not provided	GUncertain significance
Select item 1324365	NM_001994.3(F13B):c.805+1G>A	F13B	Single nucleotide variant (splice donor variant)	Factor XIII, b subunit, deficiency of	GLikely pathogenic
Select item 1322006	NM_001994.3(F13B):c.1505C>G (p.Ser502Cys)	F13B (S502C)	Single nucleotide variant (missense variant)	Cholesteatoma	GPathogenic
Select item 1288970	NM_001994.3(F13B):c.806-300T>G	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274371	NM_001994.3(F13B):c.65-158G>C	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270637	NM_001994.3(F13B):c.806-251A>T	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270193	NM_001994.3(F13B):c.1953-56T>G	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1266711	NM_001994.3(F13B):c.451+85T>A	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263306	NM_001994.3(F13B):c.806-77T>C	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257939	NM_001994.3(F13B):c.1354+202C>T	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248848	NM_001994.3(F13B):c.1355-133_1355-130del	F13B	Deletion (intron variant)	not provided	GBenign
Select item 1245718	NM_001994.3(F13B):c.1952+144C>G	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1245280	NM_001994.3(F13B):c.452-112T>C	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239637	NM_001994.3(F13B):c.1556-310C>T	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232490	NM_001994.3(F13B):c.452-33del	F13B	Deletion (intron variant)	not provided	GBenign
Select item 1227332	NM_001994.3(F13B):c.805+151C>T	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1163775	NM_001994.3(F13B):c.1594C>T (p.His532Tyr)	F13B (H532Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1098470	NM_001994.3(F13B):c.431C>T (p.Pro144Leu)	F13B (P144L)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 1098469	NM_001994.3(F13B):c.521A>T (p.Asp174Val)	F13B (D174V)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 1098468	NM_001994.3(F13B):c.565G>T (p.Gly189Ter)	F13B (G189*)	Single nucleotide variant (nonsense)	Factor XIII, b subunit, deficiency of	GPathogenic
Select item 1098467	NM_001994.3(F13B):c.625A>G (p.Thr209Ala)	F13B (T209A)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 1098466	NM_001994.3(F13B):c.779G>T (p.Trp260Leu)	F13B (W260L)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 1098465	NM_001994.3(F13B):c.881A>T (p.His294Leu)	F13B (H294L)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 1098464	NM_001994.3(F13B):c.1693G>A (p.Ala565Thr)	F13B (A565T)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 1076360	NC_000001.10:g.(?_196918585)_(197742062_?)del	ASPM, CFHR2 +5 more	Deletion	Retinitis pigmentosa 12 +1 more	GPathogenic
Select item 1069026	NM_001994.3(F13B):c.162dup (p.Leu55fs)	F13B (L55fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 1033881	NM_001994.3(F13B):c.1942C>T (p.Pro648Ser)	F13B (P648S)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 972964	GRCh37/hg19 1q31.3-32.2(chr1:194356425-210988710)x3	CD34, MDM4 +145 more	Copy number gain	not provided	Gnot provided
Select item 876658	NM_001994.3(F13B):c.-23C>A	F13B	Single nucleotide variant (5 prime UTR variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 876612	NM_001994.3(F13B):c.1228G>A (p.Gly410Arg)	F13B (G410R)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 876611	NM_001994.3(F13B):c.1257C>A (p.Ser419=)	F13B	Single nucleotide variant (synonymous variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 876610	NM_001994.3(F13B):c.1317C>T (p.Cys439=)	F13B	Single nucleotide variant (synonymous variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 875660	NM_001994.3(F13B):c.96T>C (p.Asn32=)	F13B	Single nucleotide variant (synonymous variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 875659	NM_001994.3(F13B):c.224C>T (p.Thr75Met)	F13B (T75M)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 875614	NM_001994.3(F13B):c.1877A>G (p.Tyr626Cys)	F13B (Y626C)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 875613	NM_001994.3(F13B):c.1935A>T (p.Arg645Ser)	F13B (R645S)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of +1 more	GUncertain significance
Select item 874722	NM_001994.3(F13B):c.675T>A (p.His225Gln)	F13B (H225Q)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 874721	NM_001994.3(F13B):c.815A>G (p.Asn272Ser)	F13B (N272S)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 874720	NM_001994.3(F13B):c.874T>G (p.Tyr292Asp)	F13B (Y292D)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 874719	NM_001994.3(F13B):c.889A>C (p.Ile297Leu)	F13B (I297L)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 873766	NM_001994.3(F13B):c.1106T>C (p.Leu369Pro)	F13B (L369P)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 814145	GRCh37/hg19 1q25.2-32.1(chr1:177551193-199599056)x1	ABL2, ACBD6 +88 more	Copy number loss	not provided	GPathogenic
Select item 787218	NM_001994.3(F13B):c.765C>T (p.Cys255=)	F13B	Single nucleotide variant (synonymous variant)	Factor XIII, b subunit, deficiency of +1 more	GConflicting classifications of pathogenicity
Select item 717818	NM_001994.3(F13B):c.1049A>G (p.His350Arg)	F13B (H350R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 717817	NM_001994.3(F13B):c.1586T>C (p.Leu529Pro)	F13B (L529P)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of +1 more	GConflicting classifications of pathogenicity
Select item 686360	GRCh37/hg19 1q31.3-32.1(chr1:196315481-200200856)x1	ASPM, ATP6V1G3 +18 more	Copy number loss	not provided	GUncertain significance
Select item 685144	GRCh37/hg19 1q25.3-44(chr1:182388773-249111240)x3	C4BPB, CACNA1S +433 more	Copy number gain	not provided	GPathogenic
Select item 627055	NM_001994.3(F13B):c.299_300insAAC (p.Tyr100Ter)	F13B (Y100*)	Insertion (nonsense)	Coagulation factor deficiency syndrome +1 more	GPathogenic

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