ClinVar for MedGen (Select 1805414) - ClinVar

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

Links from MedGen

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3237334	NG_011403.2:g.2731_26150dup	F8	Duplication	Thrombophilia, X-linked, due to factor 8 defect	GPathogenic
Select item 1685801	NM_000132.4(F8):c.1030A>C (p.Lys344Gln)	F8 (K344Q)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1685800	NM_000132.4(F8):c.1264G>C (p.Asp422His)	F8 (D422H)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect +2 more	GConflicting classifications of pathogenicity
Select item 1685799	NM_000132.4(F8):c.1337G>A (p.Arg446Gln)	F8 (R446Q)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GUncertain significance
Select item 1685797	NM_000132.4(F8):c.2840C>G (p.Pro947Arg)	F8 (P947R)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 1685796	NM_000132.4(F8):c.3836G>A (p.Arg1279Lys)	F8 (R1279K)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect	GUncertain significance
Select item 1685795	NM_000132.4(F8):c.3986G>A (p.Arg1329His)	F8 (R1329H)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect	GUncertain significance
Select item 1685794	NM_000132.4(F8):c.4099A>T (p.Thr1367Ser)	F8 (T1367S)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect	GPathogenic
Select item 1685793	NM_000132.4(F8):c.4531G>A (p.Val1511Ile)	F8 (V1511I)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect	GUncertain significance
Select item 1685791	NM_000132.4(F8):c.4828G>T (p.Ala1610Ser)	F8 (A1610S)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect +1 more	GConflicting classifications of pathogenicity
Select item 1685790	NM_000132.4(F8):c.5144G>A (p.Arg1715Gln)	F8 (R1715Q)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect +3 more	GConflicting classifications of pathogenicity
Select item 1685789	NM_000132.4(F8):c.5291A>G (p.Gln1764Arg)	F8 (Q1764R)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect	GPathogenic
Select item 1685788	NM_000132.4(F8):c.5381T>A (p.Phe1794Tyr)	F8 (F1794Y)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 1685786	NM_000132.4(F8):c.5806C>T (p.Arg1936Cys)	F8 (R1936C)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect	GPathogenic
Select item 1685785	NM_000132.4(F8):c.5976G>A (p.Met1992Ile)	F8 (M1992I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1685784	NM_000132.4(F8):c.5999-11G>A	F8	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 8 defect +2 more	GConflicting classifications of pathogenicity
Select item 1685783	NM_000132.4(F8):c.6067G>A (p.Glu2023Lys)	F8 (E2023K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1685781	NM_000132.4(F8):c.6951C>G (p.Asp2317Glu)	F8 (D182E +1 more)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect +1 more	GConflicting classifications of pathogenicity
Select item 1685315	NM_000132.4(F8):c.1752+5G>T	F8	Single nucleotide variant (intron variant)	Thrombophilia, X-linked, due to factor 8 defect	GLikely pathogenic
Select item 1333164	NM_000132.4(F8):c.4379dup (p.Asn1460fs)	F8 (N1460fs)	Duplication (frameshift variant)	Hereditary factor VIII deficiency disease +2 more	GPathogenic/Likely pathogenic
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 1285022	NM_000132.4(F8):c.3701A>T (p.His1234Leu)	F8 (H1234L)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect	GUncertain significance
Select item 1163210	NM_000132.4(F8):c.1018G>A (p.Glu340Lys)	F8 (E340K)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect +2 more	GConflicting classifications of pathogenicity
Select item 914831	NM_000132.4(F8):c.6304G>A (p.Gly2102Ser)	F8 (G2102S)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect +2 more	GConflicting classifications of pathogenicity
Select item 913256	NM_000132.4(F8):c.2887G>A (p.Asp963Asn)	F8 (D963N)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect +2 more	GConflicting classifications of pathogenicity
Select item 811219	NM_000132.4(F8):c.6622C>G (p.Gln2208Glu)	F8 (Q2208E +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 810977	NM_000132.4(F8):c.2150G>A (p.Arg717Gln)	F8 (R717Q)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 804136	NM_000132.4(F8):c.6374G>C (p.Ser2125Thr)	F8 (S2125T)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 627370	NM_000132.4(F8):c.733C>T (p.Arg245Trp)	F8 (R245W)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect +1 more	GPathogenic/Likely pathogenic
Select item 503494	NM_000132.4(F8):c.2113+461_2113+473del	F8	Deletion (intron variant)	Thrombophilia, X-linked, due to factor 8 defect	GPathogenic
Select item 444838	NM_000132.4(F8):c.4442T>C (p.Leu1481Pro)	F8 (L1481P)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +2 more	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 368123	NM_000132.4(F8):c.1508G>A (p.Arg503His)	F8 (R503H)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GBenign FDA Recognized database
Select item 368116	NM_000132.4(F8):c.6871A>G (p.Thr2291Ala)	F8 (T2291A +1 more)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect +1 more	GUncertain significance
Select item 41001	NM_000132.4(F8):c.6769A>G (p.Met2257Val)	F8 (M2257V +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GBenign FDA Recognized database
Select item 10321	NM_000132.4(F8):c.6544C>T (p.Arg2182Cys)	F8 (R2182C +1 more)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GPathogenic
Select item 10256	NM_000132.4(F8):c.4121_4124del (p.Ile1374fs)	F8 (I1374fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 10251	NM_000132.4(F8):c.3169G>A (p.Glu1057Lys)	F8 (E1057K)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 10246	NM_000132.4(F8):c.2167G>A (p.Ala723Thr)	F8 (A723T)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +3 more	GPathogenic
Select item 10245	NM_000132.4(F8):c.2149C>T (p.Arg717Trp)	F8 (R717W)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect +4 more	GConflicting classifications of pathogenicity
Select item 10236	NM_000132.4(F8):c.1834C>T (p.Arg612Cys)	F8 (R612C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 10171	NM_000132.4(F8):c.396A>C (p.Glu132Asp)	F8 (E132D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 10167	NM_000132.4(F8):c.323A>C (p.Lys108Thr)	F8 (K108T)	Single nucleotide variant (missense variant)	not specified +1 more	GPathogenic
Select item 10156	NM_000132.4(F8):c.121G>T (p.Gly41Cys)	F8 (G41C)	Single nucleotide variant (missense variant)	Thrombophilia, X-linked, due to factor 8 defect	GPathogenic
Select item 10145	NM_000132.4(F8):c.1336C>T (p.Arg446Ter)	F8 (R446*)	Single nucleotide variant (nonsense)	Thrombophilia, X-linked, due to factor 8 defect	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from MedGen

Items: 46