ClinVar for Gene (Select 2157) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235933	GRCh38/hg38 Xq28(chrX:154895862-155336084)	BRCC3, CLIC2 +34 more	Copy number gain	Chromosome Xq28 duplication syndrome	GPathogenic
Select item 3234464	NM_000132.4(F8):c.6429+13963C>T	F8, LOC106146150	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3148884	GRCh37/hg19 Xq25-28(chrX:125253445-155233098)x1	PRR32, ABCD1 +215 more	Copy number loss	See cases	GPathogenic
Select item 3148864	GRCh37/hg19 Xq25-28(chrX:121656905-155233098)x1	SLITRK2, SLITRK4 +221 more	Copy number loss	not provided	GPathogenic
Select item 3103669	NM_001017990.2(H2AB1):c.65G>A (p.Arg22His)	F8, H2AB1 +1 more (R22H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103668	NM_001017990.2(H2AB1):c.323C>G (p.Ser108Cys)	F8, H2AB1 +1 more (S108C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3103667	NM_001017990.2(H2AB1):c.119G>A (p.Arg40Gln)	F8, H2AB1 +1 more (R40Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091497	NM_012151.4(F8A1):c.986C>T (p.Thr329Ile)	F8, F8A1 +2 more (T329I)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3091496	NM_000132.4(F8):c.643A>G (p.Ile215Val)	F8 (I215V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3091495	NM_000132.4(F8):c.6286G>A (p.Ala2096Thr)	F8 (A2096T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091494	NM_000132.4(F8):c.5995C>G (p.Pro1999Ala)	F8 (P1999A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091493	NM_000132.4(F8):c.4361T>C (p.Leu1454Ser)	F8 (L1454S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091492	NM_000132.4(F8):c.4040A>G (p.Glu1347Gly)	F8 (E1347G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091491	NM_000132.4(F8):c.3969G>C (p.Gln1323His)	F8 (Q1323H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091490	NM_000132.4(F8):c.3064A>G (p.Thr1022Ala)	F8 (T1022A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3091489	NM_000132.4(F8):c.2805A>T (p.Gln935His)	F8 (Q935H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091488	NM_000132.4(F8):c.2521C>T (p.Pro841Ser)	F8 (P841S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3091487	NM_000132.4(F8):c.1805G>A (p.Arg602Gln)	F8 (R602Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3091486	NM_000132.4(F8):c.1264G>A (p.Asp422Asn)	F8 (D422N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3075898	NM_000132.4(F8):c.5453dup (p.Ala1819fs)	F8 (A1819fs)	Duplication (frameshift variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 3068756	NC_000023.10:g.(154134849_154156845)_(154159952_154175972)dup	F8	Duplication	Hereditary factor VIII deficiency disease	GPathogenic
Select item 3068228	NM_000132.4(F8):c.5218A>G (p.Arg1740Gly)	F8 (R1740G)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 3067956	NM_000132.4(F8):c.670+5G>A	F8	Single nucleotide variant (intron variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3067175	NM_000132.4(F8):c.784C>G (p.Pro262Ala)	F8 (P262A)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 3065190	NM_000132.4(F8):c.3385C>T (p.Gln1129Ter)	F8 (Q1129*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 3063825	NM_000132.4(F8):c.839G>A (p.Gly280Asp)	F8 (G280D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063723	NM_000132.4(F8):c.1658C>G (p.Ser553Cys)	F8 (S553C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 3063640	NM_000132.4(F8):c.602G>A (p.Gly201Glu)	F8 (G201E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062491	GRCh37/hg19 Xq24-28(chrX:119395676-154930047)	TAFAZZIN, TENM1 +241 more	Copy number loss	not specified	GPathogenic
Select item 3062473	GRCh37/hg19 Xq22.2-28(chrX:103405294-155233731)	ABCD1, ACSL4 +321 more	Copy number loss	not specified	GPathogenic
Select item 3062302	NM_000132.4(F8):c.476T>A (p.Val159Asp)	F8 (V159D)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 3062175	NM_000132.4(F8):c.5306G>A (p.Gly1769Glu)	F8 (G1769E)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 3061357	NM_000132.4(F8):c.5999-1G>A	F8	Single nucleotide variant (splice acceptor variant)	F8-related condition	GLikely pathogenic
Select item 3054017	NM_000132.4(F8):c.5517A>G (p.Gln1839=)	F8	Single nucleotide variant (synonymous variant)	F8-related condition	GLikely benign
Select item 3047649	NM_000132.4(F8):c.3342G>A (p.Ser1114=)	F8	Single nucleotide variant (synonymous variant)	F8-related condition	GLikely benign
Select item 3039237	NM_000132.4(F8):c.6188-2A>G	F8	Single nucleotide variant (splice acceptor variant)	F8-related condition	GLikely pathogenic
Select item 3037084	NM_000132.4(F8):c.4912A>G (p.Lys1638Glu)	F8 (K1638E)	Single nucleotide variant (missense variant)	F8-related condition	GLikely benign
Select item 3032915	NM_000132.4(F8):c.3619C>A (p.His1207Asn)	F8 (H1207N)	Single nucleotide variant (missense variant)	F8-related condition	GUncertain significance
Select item 3032164	NM_000132.4(F8):c.5301C>T (p.Tyr1767=)	F8	Single nucleotide variant (synonymous variant)	F8-related condition	GLikely benign
Select item 3031592	NM_000132.4(F8):c.2961G>A (p.Glu987=)	F8	Single nucleotide variant (synonymous variant)	F8-related condition	GLikely benign
Select item 3028957	NM_000132.4(F8):c.2113+472_2113+473del	F8	Deletion (intron variant)	F8-related condition	GLikely benign
Select item 3027135	NM_000132.4(F8):c.6663C>A (p.Thr2221=)	F8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3026950	NM_000132.4(F8):c.5579T>C (p.Val1860Ala)	F8 (V1860A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	TMEM31, TMEM35A +488 more	Copy number gain	not provided	GPathogenic
Select item 2920970	NM_000132.4(F8):c.4163C>T (p.Pro1388Leu)	F8 (P1388L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920968	NM_000132.4(F8):c.2092T>G (p.Phe698Val)	F8 (F698V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2920965	NM_000132.4(F8):c.1312A>T (p.Ile438Phe)	F8 (I438F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2920957	NM_000132.4(F8):c.6742T>G (p.Trp2248Gly)	F8 (W113G +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2920945	NM_000132.4(F8):c.6429+5G>A	F8	Single nucleotide variant (intron variant)	not provided	GPathogenic
Select item 2920911	NM_000132.4(F8):c.6066C>T (p.Gly2022=)	F8	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2920880	NM_000132.4(F8):c.5843T>G (p.Leu1948Arg)	F8 (L1948R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2920855	NM_000132.4(F8):c.6825T>A (p.Tyr2275Ter)	F8 (Y2275* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2920840	NM_000132.4(F8):c.5941G>A (p.Val1981Met)	F8 (V1981M)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2920835	NM_000132.4(F8):c.508C>T (p.Pro170Ser)	F8 (P170S)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2920803	NM_000132.4(F8):c.4473C>G (p.Tyr1491Ter)	F8 (Y1491*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 2775450	NM_000132.4(F8):c.6429+2T>A	F8	Single nucleotide variant (splice donor variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 2775449	NM_000132.4(F8):c.686C>A (p.Ser229Ter)	F8 (S229*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 2775448	NM_000132.4(F8):c.1701del (p.Ile567fs)	F8 (I567fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 2775447	NM_000132.4(F8):c.5488G>T (p.Glu1830Ter)	F8 (E1830*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 2775446	NM_000132.4(F8):c.1372C>T (p.Arg458Cys)	F8 (R458C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 2775445	NM_000132.4(F8):c.2087C>T (p.Thr696Ile)	F8 (T696I)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 2775444	NM_000132.4(F8):c.1899G>T (p.Met633Ile)	F8 (M633I)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 2713111	NM_000132.4(F8):c.5096A>C (p.Tyr1699Ser)	F8 (Y1699S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2691908	NM_000132.4(F8):c.2098T>C (p.Ser700Pro)	F8 (S700P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2691907	NM_000132.4(F8):c.2138A>T (p.Asn713Ile)	F8 (N713I)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2691578	NC_000023.10:g.(154159952_154175972)_(154197828_154212961)del	F8	Deletion	Hereditary factor VIII deficiency disease	GPathogenic
Select item 2691484	NM_000132.4(F8):c.5219+13_5219+20del	F8	Deletion (intron variant)	not specified	GLikely benign
Select item 2691377	NC_000023.10:g.(154133299_154134694)_(154134849_154156845)del	F8	Deletion	Hereditary factor VIII deficiency disease	GPathogenic
Select item 2691330	NM_000132.4(F8):c.412del (p.Ser138fs)	F8 (S138fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 2685780	GRCh37/hg19 Xq28(chrX:153826261-154401171)x2	BRCC3, CMC4 +11 more	Copy number gain	not provided	GUncertain significance
Select item 2685774	GRCh37/hg19 Xq28(chrX:152916854-154775938)x2	GDI1, H2AB1 +58 more	Copy number gain	not provided	GPathogenic
Select item 2685724	GRCh37/hg19 Xq28(chrX:148598351-154943978)x1	ABCD1, ARHGAP4 +110 more	Copy number loss	not provided	GPathogenic
Select item 2685718	GRCh37/hg19 Xq24-28(chrX:119071609-155233731)x1	ABCD1, ACTRT1 +246 more	Copy number loss	not provided	GPathogenic
Select item 2685717	GRCh37/hg19 Xq24-28(chrX:118576752-155233731)x1	ABCD1, ACTRT1 +258 more	Copy number loss	not provided	GPathogenic
Select item 2685026	GRCh37/hg19 Xq28(chrX:153792456-154110373)x3	CTAG1A, CTAG1B +7 more	Copy number gain	not provided	GUncertain significance
Select item 2683964	NM_000132.4(F8):c.6454T>C (p.Ser2152Pro)	F8 (S17P +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2683963	NM_000132.4(F8):c.6821T>C (p.Met2274Thr)	F8 (M139T +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 2683608	NM_000132.4(F8):c.728C>G (p.Ser243Cys)	F8 (S243C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683607	NM_000132.4(F8):c.1316G>A (p.Gly439Asp)	F8 (G439D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683606	NM_000132.4(F8):c.1781T>C (p.Leu594Pro)	F8 (L594P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683605	NM_000132.4(F8):c.4367G>A (p.Gly1456Glu)	F8 (G1456E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683604	NM_000132.4(F8):c.6164A>C (p.Gln2055Pro)	F8 (Q2055P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2683590	NM_000132.4(F8):c.602-11T>C	F8	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 2683585	NM_000132.4(F8):c.1331A>C (p.Lys444Thr)	F8 (K444T)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2683582	NM_000132.4(F8):c.1462G>C (p.Ala488Pro)	F8 (A488P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2683576	NM_000132.4(F8):c.3870dup (p.Gly1291fs)	F8 (G1291fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2683573	NM_000132.4(F8):c.5101G>A (p.Glu1701Lys)	F8 (E1701K)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 2683569	NM_000132.4(F8):c.5405A>G (p.Tyr1802Cys)	F8 (Y1802C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2683561	NM_000132.4(F8):c.6326G>C (p.Arg2109Pro)	F8 (R2109P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2682472	NM_000132.4(F8):c.2852C>G (p.Ser951Cys)	F8 (S951C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2682352	NM_000132.4(F8):c.3137C>A (p.Ser1046Ter)	F8 (S1046*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 2682202	NM_000132.4(F8):c.5561G>A (p.Trp1854Ter)	F8 (W1854*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 2673271	NM_000132.4(F8):c.5120C>T (p.Pro1707Leu)	F8 (P1707L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2664820	NM_000132.4(F8):c.102C>G (p.Asp34Glu)	F8 (D34E)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 2664817	NM_000132.4(F8):c.6710C>T (p.Ala2237Val)	F8 (A102V +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2664071	NM_000132.4(F8):c.6325C>T (p.Arg2109Cys)	F8 (R2109C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2661871	NM_000132.4(F8):c.2006C>T (p.Ser669Phe)	F8 (S669F)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2661870	NM_000132.4(F8):c.2113+471_2113+473dup	F8	Duplication (intron variant)	not provided	GBenign
Select item 2661869	NM_000132.4(F8):c.2727A>G (p.Pro909=)	F8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2661868	NM_000132.4(F8):c.2954C>T (p.Ser985Leu)	F8 (S985L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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