"Ambry Genetics"[submitter] AND "F8"[gene] - ClinVar

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

Search results

Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 520827	NM_000132.4(F8):c.7031G>A (p.Gly2344Asp)	F8 (G2344D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely pathogenic
Select item 811460	NM_000132.4(F8):c.6849C>T (p.Ser2283=)	F8	Single nucleotide variant (synonymous variant)	Inborn genetic diseases +1 more	GBenign/Likely benign
Select item 2318048	NM_000132.4(F8):c.6818G>A (p.Ser2273Asn)	F8 (S2273N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1330618	NM_000132.4(F8):c.6696A>G (p.Gln2232=)	F8	Single nucleotide variant (synonymous variant)	Hereditary factor VIII deficiency disease +2 more	GConflicting classifications of pathogenicity
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 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 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 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 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 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 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 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 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 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 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 1330860	NM_000132.4(F8):c.6323C>T (p.Ala2108Val)	F8 (A2108V)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GUncertain significance
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 2205682	NM_000132.4(F8):c.6122A>T (p.Gln2041Leu)	F8 (Q2041L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 439683	NM_000132.4(F8):c.6089G>A (p.Ser2030Asn)	F8 (S2030N)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic/Likely pathogenic
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 2477679	NM_000132.4(F8):c.5977G>T (p.Ala1993Ser)	F8 (A1993S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249256	NM_000132.4(F8):c.5903G>A (p.Ser1968Asn)	F8 (S1968N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1685787	NM_000132.4(F8):c.5703C>A (p.Ile1901=)	F8	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2330431	NM_000132.4(F8):c.5149T>C (p.Tyr1717His)	F8 (Y1717H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363422	NM_000132.4(F8):c.5136G>C (p.Lys1712Asn)	F8 (K1712N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1331041	NM_000132.4(F8):c.5009C>T (p.Thr1670Ile)	F8 (T1670I)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +2 more	GUncertain significance
Select item 2553027	NM_000132.4(F8):c.4901A>G (p.Glu1634Gly)	F8 (E1634G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2461109	NM_000132.4(F8):c.4820A>T (p.Glu1607Val)	F8 (E1607V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 798174	NM_000132.4(F8):c.4759G>A (p.Asp1587Asn)	F8 (D1587N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2402641	NM_000132.4(F8):c.4508A>G (p.Asp1503Gly)	F8 (D1503G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2310172	NM_000132.4(F8):c.4374A>C (p.Lys1458Asn)	F8 (K1458N)	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 2301338	NM_000132.4(F8):c.4274G>A (p.Arg1425Lys)	F8 (R1425K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2540403	NM_000132.4(F8):c.4234G>T (p.Val1412Leu)	F8 (V1412L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2375400	NM_000132.4(F8):c.4211G>A (p.Arg1404Lys)	F8 (R1404K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2295466	NM_000132.4(F8):c.4162C>A (p.Pro1388Thr)	F8 (P1388T)	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 2510631	NM_000132.4(F8):c.3907A>G (p.Thr1303Ala)	F8 (T1303A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286712	NM_000132.4(F8):c.3781G>A (p.Gly1261Arg)	F8 (G1261R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2597502	NM_000132.4(F8):c.3680A>G (p.Asn1227Ser)	F8 (N1227S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2207189	NM_000132.4(F8):c.3352A>G (p.Met1118Val)	F8 (M1118V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 794089	NM_000132.4(F8):c.3280G>A (p.Glu1094Lys)	F8 (E1094K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1307717	NM_000132.4(F8):c.3163G>A (p.Asp1055Asn)	F8 (D1055N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2634702	NM_000132.4(F8):c.3145C>A (p.Gln1049Lys)	F8 (Q1049K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 2334243	NM_000132.4(F8):c.2987G>A (p.Arg996Lys)	F8 (R996K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2205432	NM_000132.4(F8):c.2961G>C (p.Glu987Asp)	F8 (E987D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 2233582	NM_000132.4(F8):c.2846C>T (p.Thr949Ile)	F8 (T949I)	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 2545698	NM_000132.4(F8):c.2771G>C (p.Gly924Ala)	F8 (G924A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1303376	NM_000132.4(F8):c.2732A>G (p.Asp911Gly)	F8 (D911G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 913257	NM_000132.4(F8):c.2696G>A (p.Ser899Asn)	F8 (S899N)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +2 more	GConflicting classifications of pathogenicity
Select item 2263432	NM_000132.4(F8):c.2685C>A (p.Phe895Leu)	F8 (F895L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2256565	NM_000132.4(F8):c.2594A>T (p.Asp865Val)	F8 (D865V)	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 2568430	NM_000132.4(F8):c.2441G>A (p.Arg814Gln)	F8 (R814Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319676	NM_000132.4(F8):c.2377G>T (p.Ala793Ser)	F8 (A793S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2551350	NM_000132.4(F8):c.2336C>G (p.Thr779Arg)	F8 (T779R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 913258	NM_000132.4(F8):c.2299C>T (p.His767Tyr)	F8 (H767Y)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GUncertain significance
Select item 2408003	NM_000132.4(F8):c.2234T>C (p.Ile745Thr)	F8 (I745T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 913260	NM_000132.4(F8):c.2212T>G (p.Tyr738Asp)	F8 (Y738D)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 2304733	NM_000132.4(F8):c.2065C>G (p.Leu689Val)	F8 (L689V)	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 2263730	NM_000132.4(F8):c.1342A>G (p.Met448Val)	F8 (M448V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309181	NM_000132.4(F8):c.1280A>G (p.Lys427Arg)	F8 (K427R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3091496	NM_000132.4(F8):c.643A>G (p.Ile215Val)	F8 (I215V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3277001	NM_000132.4(F8):c.500C>T (p.Ala167Val)	F8 (A167V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 71