Related gene-specific medical variations for Gene (Select 2157) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3234464	NM_000132.4(F8):c.6429+13963C>T	F8, LOC106146150	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 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 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 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 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 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 2661862	NM_000132.4(F8):c.6429+9940G>A	F8, LOC106146150	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2637908	NM_000132.4(F8):c.1120del (p.Met374fs)	F8 (M374fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2637904	NM_000132.4(F8):c.745A>T (p.Lys249Ter)	F8 (K249*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2637903	NM_000132.4(F8):c.2717C>G (p.Ser906Ter)	F8 (S906*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2637902	NM_000132.4(F8):c.836T>G (p.Met279Arg)	F8 (M279R)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2627758	NM_000132.4(F8):c.1847A>G (p.Asn616Ser)	F8 (N616S)	Single nucleotide variant (missense variant)	Bardet-Biedl syndrome 2	GUncertain significance
Select item 2608662	NM_001017990.2(H2AB1):c.56C>T (p.Thr19Ile)	F8, H2AB1 +1 more (T19I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2582770	NM_000132.4(F8):c.5132A>C (p.Gln1711Pro)	F8 (Q1711P)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 2579134	NM_000132.4(F8):c.683A>C (p.His228Pro)	F8 (H228P)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 2571388	NM_000132.4(F8):c.1010-842G>A	F8, LOC126863349	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2523862	NM_001017990.2(H2AB1):c.307A>G (p.Asn103Asp)	F8, H2AB1 +1 more (N103D)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2509933	NM_001017990.2(H2AB1):c.52C>T (p.Arg18Trp)	F8, H2AB1 +1 more (R18W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2471110	NM_001017990.2(H2AB1):c.241C>T (p.Arg81Trp)	F8, H2AB1 +1 more (R81W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2441958	NM_000132.4(F8):c.3213G>A (p.Met1071Ile)	F8 (M1071I)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 2441331	NM_000132.4(F8):c.3361T>G (p.Leu1121Val)	F8 (L1121V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441330	NM_000132.4(F8):c.274G>A (p.Gly92Ser)	F8 (G92S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441329	NM_000132.4(F8):c.5562G>T (p.Trp1854Cys)	F8 (W1854C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441328	NM_000132.4(F8):c.3409C>A (p.Leu1137Met)	F8 (L1137M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2441327	NM_000132.4(F8):c.1181C>A (p.Ala394Asp)	F8 (A394D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428751	NM_000132.4(F8):c.1639T>C (p.Cys547Arg)	F8 (C547R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2428743	NM_000132.4(F8):c.5689_5690del (p.Leu1897fs)	F8 (L1897fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2428721	NM_000132.4(F8):c.4841del (p.Lys1614fs)	F8 (K1614fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 2428719	NM_000132.4(F8):c.1457A>T (p.Asn486Ile)	F8 (N486I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428701	NM_000132.4(F8):c.1247C>T (p.Pro416Leu)	F8 (P416L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2428680	NM_000132.4(F8):c.1555_1556dup (p.Asp519fs)	F8 (D519fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2428659	NM_000132.4(F8):c.881C>G (p.Thr294Arg)	F8 (T294R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2428614	NM_000132.4(F8):c.1808G>A (p.Ser603Asn)	F8 (S603N)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2428612	NM_000132.4(F8):c.5961dup (p.Glu1988fs)	F8 (E1988fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 2428606	NM_000132.4(F8):c.101A>T (p.Asp34Val)	F8 (D34V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2428583	NM_000132.4(F8):c.521C>T (p.Thr174Ile)	F8 (T174I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428570	NM_000132.4(F8):c.842C>T (p.Thr281Ile)	F8 (T281I)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2428546	NM_000132.4(F8):c.6653T>A (p.Met2218Lys)	F8 (M2218K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428536	NM_000132.4(F8):c.37C>T (p.Leu13Phe)	F8 (L13F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2428519	NM_000132.4(F8):c.312C>A (p.Val104=)	F8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2428513	NC_000023.11:g.154901441CT[1]	F8	Microsatellite (genic upstream transcript variant)	not provided	GPathogenic
Select item 2382555	NM_012151.4(F8A1):c.23T>G (p.Leu8Arg)	F8, F8A1 +1 more (L8R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2362990	NM_012151.4(F8A1):c.835C>G (p.Leu279Val)	F8, F8A1 +1 more (L279V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2359370	NM_012151.4(F8A1):c.1024G>C (p.Val342Leu)	F8, F8A1 +2 more (V342L)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 1992368	NM_000132.4(F8):c.2045T>C (p.Val682Ala)	F8 (V682A)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1695326	NM_001017990.2(H2AB1):c.111C>T (p.Arg37=)	F8, H2AB1 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1679506	NM_000132.4(F8):c.1696C>T (p.Leu566Phe)	F8 (L566F)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1679467	NM_000132.4(F8):c.5576A>T (p.Asp1859Val)	F8 (D1859V)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1679464	NM_000132.4(F8):c.2618G>A (p.Gly873Asp)	F8 (G873D)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1679449	NM_000132.4(F8):c.853G>A (p.Val285Met)	F8 (V285M)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1331090	NM_000132.4(F8):c.5379_5381delinsGA (p.Phe1794fs)	F8 (F1794fs)	Indel (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1331085	NM_000132.4(F8):c.650T>C (p.Leu217Pro)	F8 (L217P)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1331083	NM_000132.4(F8):c.6975del (p.Arg2326fs)	F8 (R191fs +1 more)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1331057	NM_000132.4(F8):c.6020del (p.Met2007fs)	F8 (M2007fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1331040	NM_000132.4(F8):c.1430G>T (p.Gly477Val)	F8 (G477V)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1331011	NM_000132.4(F8):c.940A>C (p.Thr314Pro)	F8 (T314P)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1331002	NM_000132.4(F8):c.944C>G (p.Ala315Gly)	F8 (A315G)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1330966	NM_000132.4(F8):c.2118_2119dup (p.Trp707fs)	F8 (W707fs)	Duplication (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1330957	NM_000132.4(F8):c.74A>G (p.Tyr25Cys)	F8 (Y25C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1330924	NM_000132.4(F8):c.1481T>G (p.Ile494Ser)	F8 (I494S)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1330919	NM_000132.4(F8):c.4758G>A (p.Trp1586Ter)	F8 (W1586*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1330905	NM_000132.4(F8):c.2506dup (p.Ser836fs)	F8 (S836fs)	Duplication (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1330896	NM_000132.4(F8):c.650T>G (p.Leu217Arg)	F8 (L217R)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1330892	NM_000132.4(F8):c.6593G>A (p.Gly2198Glu)	F8 (G2198E +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1330883	NM_000132.4(F8):c.55A>C (p.Ser19Arg)	F8 (S19R)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1330871	NM_000132.4(F8):c.2162T>C (p.Met721Thr)	F8 (M721T)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1330854	NM_000132.4(F8):c.2101A>G (p.Met701Val)	F8 (M701V)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1330820	NM_000132.4(F8):c.5449C>T (p.Gln1817Ter)	F8 (Q1817*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1330799	NM_000132.4(F8):c.437_438del (p.Lys146fs)	F8 (K146fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1330791	NM_000132.4(F8):c.6118T>G (p.Cys2040Gly)	F8 (C2040G)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1330781	NM_000132.4(F8):c.5501dup (p.Tyr1834Ter)	F8 (Y1834*)	Duplication (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1330777	NM_000132.4(F8):c.2902G>T (p.Glu968Ter)	F8 (E968*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1330755	NM_000132.4(F8):c.388+1G>A	F8	Single nucleotide variant (splice donor variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1330732	NM_000132.4(F8):c.286C>T (p.Gln96Ter)	F8 (Q96*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1330709	NM_000132.4(F8):c.5999-2A>C	F8	Single nucleotide variant (splice acceptor variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1330700	NM_000132.4(F8):c.1257_1262delinsG (p.Ala420fs)	F8 (A420fs)	Indel (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1330691	NM_000132.4(F8):c.6273G>A (p.Lys2091=)	F8	Single nucleotide variant (synonymous variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1330667	NM_000132.4(F8):c.6959T>G (p.Leu2320Ter)	F8 (L185* +1 more)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1330641	NM_000132.4(F8):c.665A>C (p.Asp222Ala)	F8 (D222A)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1330609	NM_000132.4(F8):c.144-13T>G	F8	Single nucleotide variant (intron variant)	Hereditary factor VIII deficiency disease	GLikely benign
Select item 1330606	NM_000132.4(F8):c.760A>G (p.Asn254Asp)	F8 (N254D)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1330605	NM_000132.4(F8):c.5604A>T (p.Ser1868=)	F8	Single nucleotide variant (synonymous variant)	Hereditary factor VIII deficiency disease	GLikely benign
Select item 1330594	NM_000132.4(F8):c.787+5G>C	F8	Single nucleotide variant (intron variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1330579	NM_000132.4(F8):c.5335G>A (p.Gly1779Arg)	F8 (G1779R)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1330529	NM_000132.4(F8):c.4045A>G (p.Arg1349Gly)	F8 (R1349G)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1330511	NM_000132.4(F8):c.6550G>C (p.Glu2184Gln)	F8 (E2184Q +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1330501	NM_000132.4(F8):c.1485C>G (p.Tyr495Ter)	F8 (Y495*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1330488	NM_000132.4(F8):c.3399A>G (p.Gly1133=)	F8	Single nucleotide variant (synonymous variant)	Hereditary factor VIII deficiency disease	GLikely benign
Select item 1330455	NM_000132.4(F8):c.5219G>T (p.Arg1740Met)	F8 (R1740M)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1330445	NM_000132.4(F8):c.89A>G (p.Glu30Gly)	F8 (E30G)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 1330441	NM_000132.4(F8):c.1332del (p.Val445fs)	F8 (V445fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1330439	NM_000132.4(F8):c.5308G>A (p.Glu1770Lys)	F8 (E1770K)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 1330426	NM_000132.4(F8):c.1941_1944del (p.Leu650fs)	F8 (L650fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 1330419	NM_000132.4(F8):c.3746del (p.Leu1249fs)	F8 (L1249fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic

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