F13B[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 128

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60076	GRCh38/hg38 1q25.2-32.1(chr1:179032905-199724897)x1	LOC129388668, LOC129388669 +477 more	Copy number loss	See cases	GPathogenic
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932244, LOC129932245 +1147 more	Copy number gain	See cases	GPathogenic
Select item 146285	GRCh38/hg38 1q31.1-32.1(chr1:189034483-199615866)x1	ASPM, ATP6V1G3 +173 more	Copy number loss	See cases	GPathogenic
Select item 146109	GRCh38/hg38 1q31.3(chr1:195514309-197896494)x1	ASPM, CFH +36 more	Copy number loss	See cases	GPathogenic
Select item 294565	NM_001994.3(F13B):c.*162C>A	F13B	Single nucleotide variant (3 prime UTR variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 294566	NM_001994.3(F13B):c.*143G>A	F13B	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 294567	NM_001994.3(F13B):c.*89G>C	F13B	Single nucleotide variant (3 prime UTR variant)	Factor XIII, b subunit, deficiency of	GLikely benign
Select item 294568	NM_001994.3(F13B):c.1961C>T (p.Ser654Phe)	F13B (S654F)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 1270193	NM_001994.3(F13B):c.1953-56T>G	F13B	Single nucleotide variant (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 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 875613	NM_001994.3(F13B):c.1935A>T (p.Arg645Ser)	F13B (R645S)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 294569	NM_001994.3(F13B):c.1902G>A (p.Met634Ile)	F13B (M634I)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of +1 more	GConflicting classifications of pathogenicity
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 2615595	NM_001994.3(F13B):c.1825G>A (p.Gly609Ser)	F13B (G609S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 294570	NM_001994.3(F13B):c.1815C>T (p.His605=)	F13B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2573483	NM_001994.3(F13B):c.1803_1806delinsAAC (p.Asp601fs)	F13B (D601fs)	Indel (frameshift variant)	not specified	GUncertain significance
Select item 258504	NM_001994.3(F13B):c.1806T>C (p.Asn602=)	F13B	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 2338586	NM_001994.3(F13B):c.1754C>G (p.Ser585Cys)	F13B (S585C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 294571	NM_001994.3(F13B):c.1739-8_1739-6del	F13B	Microsatellite (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 294572	NM_001994.3(F13B):c.1707T>G (p.Asp569Glu)	F13B (D569E)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of +1 more	GBenign/Likely benign
Select item 2572138	NM_001994.3(F13B):c.1700G>C (p.Cys567Ser)	F13B (C567S)	Single nucleotide variant (missense variant)	Thrombus	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 294573	NM_001994.3(F13B):c.1670A>G (p.His557Arg)	F13B (H557R)	Single nucleotide variant (missense variant)	not provided +1 more	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 1163775	NM_001994.3(F13B):c.1594C>T (p.His532Tyr)	F13B (H532Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 717817	NM_001994.3(F13B):c.1586T>C (p.Leu529Pro)	F13B (L529P)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 258503	NM_001994.3(F13B):c.1556-13C>A	F13B	Single nucleotide variant (intron variant)	Factor XIII, b subunit, deficiency of +1 more	GConflicting classifications of pathogenicity
Select item 1239637	NM_001994.3(F13B):c.1556-310C>T	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
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 1322006	NM_001994.3(F13B):c.1505C>G (p.Ser502Cys)	F13B (S502C)	Single nucleotide variant (missense variant)	Cholesteatoma	GPathogenic
Select item 16522	NM_001994.3(F13B):c.1498del (p.Glu500fs)	F13B (E500fs)	Deletion (frameshift variant)	Factor XIII, b subunit, deficiency of	GPathogenic
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 2323488	NM_001994.3(F13B):c.1426G>T (p.Val476Phe)	F13B (V476F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1248848	NM_001994.3(F13B):c.1355-133_1355-130del	F13B	Deletion (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 16519	NM_001994.3(F13B):c.1349G>T (p.Cys450Phe)	F13B (C450F)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GPathogenic
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 294574	NM_001994.3(F13B):c.1320A>G (p.Glu440=)	F13B	Single nucleotide variant (synonymous variant)	Factor XIII, b subunit, deficiency of +1 more	GConflicting classifications of pathogenicity
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 294575	NM_001994.3(F13B):c.1285T>C (p.Tyr429His)	F13B (Y429H)	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 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 3051630	NM_001994.3(F13B):c.1227C>T (p.Asp409=)	F13B	Single nucleotide variant (synonymous variant)	F13B-related condition	GLikely benign
Select item 501663	NM_001994.3(F13B):c.1223C>G (p.Ala408Gly)	F13B (A408G)	Single nucleotide variant (missense variant)	not provided	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 294576	NM_001994.3(F13B):c.1163A>T (p.Glu388Val)	F13B (E388V)	Single nucleotide variant (missense variant)	Hereditary factor XIII deficiency disease +2 more	GUncertain significance
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 294577	NM_001994.3(F13B):c.1145A>G (p.Lys382Arg)	F13B (K382R)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	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 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 294578	NM_001994.3(F13B):c.1098C>T (p.Ser366=)	F13B	Single nucleotide variant (synonymous variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 294579	NM_001994.3(F13B):c.1089A>C (p.Ala363=)	F13B	Single nucleotide variant (synonymous variant)	Factor XIII, b subunit, deficiency of +1 more	GConflicting classifications of pathogenicity
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 294580	NM_001994.3(F13B):c.1060T>C (p.Tyr354His)	F13B (Y354H)	Single nucleotide variant (missense variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 2636960	NM_001994.3(F13B):c.1053dup (p.Lys352Ter)	F13B (K352*)	Duplication (nonsense +1 more)	F13B-related condition	GLikely pathogenic
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 717818	NM_001994.3(F13B):c.1049A>G (p.His350Arg)	F13B (H350R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 294581	NM_001994.3(F13B):c.1025T>C (p.Ile342Thr)	F13B (I342T)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 294582	NM_001994.3(F13B):c.986-4T>C	F13B	Single nucleotide variant (intron variant)	Factor XIII, b subunit, deficiency of +1 more	GConflicting classifications of pathogenicity
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 2682715	NM_001994.3(F13B):c.943C>T (p.Arg315Cys)	F13B (R315C)	Single nucleotide variant (missense variant)	not provided	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 2591243	NM_001994.3(F13B):c.889A>G (p.Ile297Val)	F13B (I297V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 294583	NM_001994.3(F13B):c.877C>T (p.Arg293Cys)	F13B (R293C)	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 2608482	NM_001994.3(F13B):c.863A>G (p.His288Arg)	F13B (H288R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 1263306	NM_001994.3(F13B):c.806-77T>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 1288970	NM_001994.3(F13B):c.806-300T>G	F13B	Single nucleotide variant (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 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 294584	NM_001994.3(F13B):c.796G>C (p.Val266Leu)	F13B (V266L)	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 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 2527791	NM_001994.3(F13B):c.676C>T (p.Pro226Ser)	F13B (P226S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 294585	NM_001994.3(F13B):c.645_647del (p.Leu216del)	F13B (L216del)	Deletion (inframe_deletion)	Factor XIII, b subunit, deficiency of	GUncertain significance
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 294586	NM_001994.3(F13B):c.570G>A (p.Lys190=)	F13B	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2575501	NM_001994.3(F13B):c.535G>A (p.Glu179Lys)	F13B (E179K)	Single nucleotide variant (missense variant)	not specified	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 2611690	NM_001994.3(F13B):c.457T>G (p.Cys153Gly)	F13B (C153G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 258505	NM_001994.3(F13B):c.456A>G (p.Thr152=)	F13B	Single nucleotide variant (synonymous variant)	Factor XIII, b subunit, deficiency of +2 more	GBenign
Select item 1232490	NM_001994.3(F13B):c.452-33del	F13B	Deletion (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 1266711	NM_001994.3(F13B):c.451+85T>A	F13B	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2627205	NM_001994.3(F13B):c.451+3A>G	F13B	Single nucleotide variant (intron variant)	not specified	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 294587	NM_001994.3(F13B):c.354C>T (p.Cys118=)	F13B	Single nucleotide variant (synonymous variant)	Factor XIII, b subunit, deficiency of	GUncertain significance
Select item 16520	NM_001994.3(F13B):c.344G>A (p.Arg115His)	F13B (R115H)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 627055	NM_001994.3(F13B):c.299_300insAAC (p.Tyr100Ter)	F13B (Y100*)	Insertion (nonsense)	Coagulation factor deficiency syndrome	GPathogenic
Select item 2613252	NM_001994.3(F13B):c.275C>G (p.Thr92Ser)	F13B (T92S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

<< First< Prev

Page of 2