ClinVar for Gene (Select 2157) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380945	NM_000132.3(F8):c.-219C>T	F8	Single nucleotide variant	not provided	GPathogenic
Select item 3380944	NM_000132.4(F8):c.332C>T (p.Ala111Val)	F8 (A111V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3380943	NM_000132.4(F8):c.602-10T>G	F8	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 3380942	NM_000132.4(F8):c.1349A>G (p.Tyr450Cys)	F8 (Y450C)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3380941	NM_000132.4(F8):c.3203del (p.Arg1068fs)	F8 (R1068fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 3380940	NM_000132.4(F8):c.5594A>T (p.Asp1865Val)	F8 (D1865V)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3380939	NM_000132.4(F8):c.6302A>G (p.His2101Arg)	F8 (H2101R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3380938	NM_000132.4(F8):c.6521A>G (p.His2174Arg)	F8 (H2174R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3380773	NM_000132.4(F8):c.38T>C (p.Leu13Pro)	F8 (L13P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380772	NM_000132.4(F8):c.246G>T (p.Lys82Asn)	F8 (K82N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380771	NM_000132.4(F8):c.580G>A (p.Ala194Thr)	F8 (A194T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380770	NM_000132.4(F8):c.662T>C (p.Phe221Ser)	F8 (F221S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380769	NM_000132.4(F8):c.787+3A>T	F8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3380768	NM_000132.4(F8):c.1279A>G (p.Lys427Glu)	F8 (K427E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380767	NM_000132.4(F8):c.1333G>A (p.Val445Ile)	F8 (V445I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3380766	NM_000132.4(F8):c.1341T>G (p.Phe447Leu)	F8 (F447L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3375249	NM_000132.4(F8):c.1409C>G (p.Pro470Arg)	F8 (P470R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3374831	NM_000132.4(F8):c.73T>C (p.Tyr25His)	F8 (Y25H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3374808	NM_000132.4(F8):c.88G>A (p.Glu30Lys)	F8 (E30K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3372432	NM_000132.4(F8):c.6369G>A (p.Met2123Ile)	F8 (M2123I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3369429	NM_000132.4(F8):c.643A>T (p.Ile215Leu)	F8 (I215L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368419	NM_000132.4(F8):c.4826C>T (p.Thr1609Ile)	F8 (T1609I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367152	NM_000132.4(F8):c.5998+1G>T	F8	Single nucleotide variant (splice donor variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 3366902	NC_000023.10:g.(?_154105777)_(154113526_?)dup	F8, H2AB1	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3366901	NC_000023.10:g.(?_54610638)_(154689386_?)dup	ABCB7, ABCD1 +526 more	Duplication	Hereditary factor VIII deficiency disease	GUncertain significance
Select item 3366469	NM_000132.4(F8):c.6452C>T (p.Ser2151Leu)	F8 (S16L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3362837	NM_000132.4(F8):c.6574+5G>A	F8	Single nucleotide variant (intron variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 3362337	NM_000132.4(F8):c.2712del (p.Ile905fs)	F8 (I905fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 3359974	NM_000132.4(F8):c.4247C>T (p.Pro1416Leu)	F8 (P1416L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3358855	NM_000132.4(F8):c.4148C>G (p.Ala1383Gly)	F8 (A1383G)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance FDA Recognized database
Select item 3358854	NM_000132.4(F8):c.1420G>A (p.Gly474Arg)	F8 (G474R)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic FDA Recognized database
Select item 3358853	NM_000132.4(F8):c.6028T>C (p.Ser2010Pro)	F8 (S2010P)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance FDA Recognized database
Select item 3357269	NM_000132.4(F8):c.5320C>T (p.His1774Tyr)	F8 (H1774Y)	Single nucleotide variant (missense variant)	F8-related disorder	GLikely pathogenic
Select item 3356314	NM_000132.4(F8):c.1241A>G (p.Tyr414Cys)	F8 (Y414C)	Single nucleotide variant (missense variant)	F8-related disorder	GLikely pathogenic
Select item 3356191	NM_000132.4(F8):c.121G>A (p.Gly41Ser)	F8 (G41S)	Single nucleotide variant (missense variant)	F8-related disorder	GUncertain significance
Select item 3349932	NM_000132.4(F8):c.4658A>G (p.Lys1553Arg)	F8 (K1553R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3348341	NM_000132.4(F8):c.5843T>C (p.Leu1948Pro)	F8 (L1948P)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3347699	NM_000132.4(F8):c.6724-2A>G	F8	Single nucleotide variant (splice acceptor variant)	F8-related disorder	GPathogenic
Select item 3347256	NM_000132.4(F8):c.389G>C (p.Gly130Ala)	F8 (G130A)	Single nucleotide variant (missense variant)	F8-related disorder	GUncertain significance
Select item 3345431	NM_000132.4(F8):c.6430-2A>G	F8	Single nucleotide variant (splice acceptor variant)	F8-related disorder	GPathogenic
Select item 3345393	NM_000132.4(F8):c.6429+1G>A	F8	Single nucleotide variant (splice donor variant)	F8-related disorder	GPathogenic
Select item 3345362	NM_000132.4(F8):c.1309C>T (p.Arg437Trp)	F8 (R437W)	Single nucleotide variant (missense variant)	F8-related disorder	GUncertain significance
Select item 3344165	NM_000132.4(F8):c.5110A>C (p.Asn1704His)	F8 (N1704H)	Single nucleotide variant (missense variant)	F8-related disorder	GUncertain significance
Select item 3344052	NM_000132.4(F8):c.1904G>A (p.Ser635Asn)	F8 (S635N)	Single nucleotide variant (missense variant)	F8-related disorder	GUncertain significance
Select item 3341381	NM_000132.4(F8):c.1655A>G (p.Tyr552Cys)	F8 (Y552C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 3340747	NM_000132.4(F8):c.431A>G (p.Asp144Gly)	F8 (D144G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339990	NC_000023.10:g.(154159952_154175972)_(154176183_154182166)dup	F8	Duplication	Hereditary factor VIII deficiency disease	GPathogenic
Select item 3339707	NM_000132.4(F8):c.6560G>A (p.Gly2187Asp)	F8 (G2187D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339696	NM_000132.4(F8):c.484G>A (p.Glu162Lys)	F8 (E162K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339586	NM_000132.4(F8):c.3465dup (p.Ser1156fs)	F8 (S1156fs)	Duplication (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic
Select item 3339482	NM_000132.4(F8):c.2114G>A (p.Gly705Asp)	F8 (G705D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339367	NM_000132.4(F8):c.6265T>G (p.Trp2089Gly)	F8 (W2089G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339224	NM_000132.4(F8):c.4406T>C (p.Leu1469Ser)	F8 (L1469S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3339082	NC_000023.10:g.(154091503_154124351)_(154250999_?)del	F8, F8A1 +1 more	Deletion	Hereditary factor VIII deficiency disease	GPathogenic
Select item 3339035	NM_000132.4(F8):c.-860A>G	F8	Single nucleotide variant	not specified	GUncertain significance
Select item 3338831	NM_000132.4(F8):c.409A>G (p.Thr137Ala)	F8 (T137A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3338110	NC_000023.11:g.154966457A>C	F8	Single nucleotide variant	Hereditary factor VIII deficiency disease	GLikely pathogenic
Select item 3337861	NM_000132.4(F8):c.954_955del (p.Leu319fs)	F8 (L319fs)	Microsatellite (frameshift variant)	not provided	GLikely pathogenic
Select item 3337093	NM_000132.4(F8):c.1637G>A (p.Arg546Gln)	F8 (R546Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3336485	NM_000132.4(F8):c.5924T>C (p.Ile1975Thr)	F8 (I1975T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336285	NM_000132.4(F8):c.7036G>A (p.Glu2346Lys)	F8 (E211K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336086	NM_000132.4(F8):c.941C>A (p.Thr314Asn)	F8 (T314N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3336085	NM_000132.4(F8):c.818A>G (p.Tyr273Cys)	F8 (Y273C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3335984	NM_000132.4(F8):c.6944C>T (p.Ser2315Phe)	F8 (S180F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3283294	NM_001017990.2(H2AB1):c.91T>C (p.Ser31Pro)	F8, H2AB1 +1 more (S31P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3277001	NM_000132.4(F8):c.500C>T (p.Ala167Val)	F8 (A167V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3277000	NM_000132.4(F8):c.2885A>G (p.Asn962Ser)	F8 (N962S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257250	NM_000132.4(F8):c.2309C>G (p.Thr770Ser)	F8 (T770S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253472	NM_000132.4(F8):c.2114-6139C>T	F8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3252987	NM_000132.4(F8):c.787+1967C>T	F8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3251769	NM_000132.4(F8):c.5211A>G (p.Leu1737=)	F8	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3251664	NM_000132.4(F8):c.3196C>T (p.His1066Tyr)	F8 (H1066Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251600	NM_000132.4(F8):c.562A>C (p.Asn188His)	F8 (N188H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251579	NM_000132.4(F8):c.6440G>T (p.Gly2147Val)	F8 (G12V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3242381	NM_000132.4(F8):c.7015A>T (p.Arg2339Trp)	F8 (R204W +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic FDA Recognized database
Select item 3242380	NM_000132.4(F8):c.1244C>A (p.Ala415Asp)	F8 (A415D)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GLikely pathogenic FDA Recognized database
Select item 3242379	NM_000132.4(F8):c.1213A>T (p.Ile405Phe)	F8 (I405F)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance FDA Recognized database
Select item 3237334	NG_011403.2:g.2731_26150dup	F8	Duplication	Thrombophilia, X-linked, due to factor 8 defect	GPathogenic
Select item 3236409	NM_000132.4(F8):c.5297T>A (p.Leu1766Ter)	F8 (L1766*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease	GLikely pathogenic
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

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