"GeneDx"[submitter] AND "F8"[gene] - ClinVar

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

Search results

Items: 78

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145168	GRCh38/hg38 Xq21.1-28(chrX:78605009-156016560)x1	LOC125467786, LOC125467787 +1203 more	Copy number loss	See cases	GPathogenic
Select item 58668	GRCh38/hg38 Xq25-28(chrX:123731372-155687381)x3	MIR2114, MIR224 +718 more	Copy number gain	See cases	GPathogenic
Select item 58708	GRCh38/hg38 Xq28(chrX:153395425-155687381)x2	BCAP31, BGN +200 more	Copy number gain	See cases	GPathogenic
Select item 60423	GRCh38/hg38 Xq28(chrX:154791149-155996431)x3	BRCC3, CLIC2 +44 more	Copy number gain	See cases	GUncertain significance
Select item 10147	NM_000132.4(F8):c.6955C>T (p.Pro2319Ser)	F8 (P2319S +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 626933	NM_000132.4(F8):c.6547A>G (p.Met2183Val)	F8 (M2183V +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 10315	NM_000132.4(F8):c.6506G>A (p.Arg2169His)	F8 (R2169H +1 more)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +2 more	GPathogenic
Select item 10088	NM_000132.4(F8):c.6403C>T (p.Arg2135Ter)	F8 (R2135*)	Single nucleotide variant (nonsense)	Hereditary factor VIII deficiency disease +1 more	GPathogenic
Select item 1878999	NM_000132.4(F8):c.6299T>C (p.Ile2100Thr)	F8 (I2100T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1258414	NM_000132.4(F8):c.6274-304GT[13]	F8	Microsatellite (intron variant)	not provided	GBenign
Select item 1229233	NM_000132.4(F8):c.6274-304GT[14]	F8	Microsatellite (intron variant)	not provided	GBenign
Select item 58019	GRCh38/hg38 Xq28(chrX:154897608-155335682)x1	BRCC3, CLIC2 +19 more	Copy number loss	See cases	GPathogenic
Select item 1253881	NM_000132.4(F8):c.6115+103T>C	F8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 381561	NM_000132.4(F8):c.6103G>A (p.Val2035Met)	F8 (V2035M)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 1251259	NM_000132.4(F8):c.5998+91T>A	F8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 929936	NM_000132.4(F8):c.5587-93C>T	F8	Single nucleotide variant (intron variant)	Hereditary factor VIII deficiency disease +1 more	GPathogenic/Likely pathogenic
Select item 10274	NM_000132.4(F8):c.5399G>A (p.Arg1800His)	F8 (R1800H)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 439677	NM_000132.4(F8):c.5186G>A (p.Gly1729Glu)	F8 (G1729E)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 10266	NM_000132.4(F8):c.5123G>A (p.Arg1708His)	F8 (R1708H)	Single nucleotide variant (missense variant)	Abnormality of coagulation +2 more	GPathogenic/Likely pathogenic
Select item 10115	NM_000132.4(F8):c.5096A>T (p.Tyr1699Phe)	F8 (Y1699F)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease +1 more	GPathogenic
Select item 1878789	NM_000132.4(F8):c.5042T>C (p.Ile1681Thr)	F8 (I1681T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2577753	NM_000132.4(F8):c.4757G>A (p.Trp1586Ter)	F8 (W1586*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 449368	NM_000132.4(F8):c.4473C>A (p.Tyr1491Ter)	F8 (Y1491*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 41000	NM_000132.4(F8):c.3864A>C (p.Ser1288=)	F8	Single nucleotide variant (synonymous variant)	Hereditary factor VIII deficiency disease	GBenign FDA Recognized database
Select item 40999	NM_000132.4(F8):c.3780C>G (p.Asp1260Glu)	F8 (D1260E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 10253	NM_000132.4(F8):c.3637del (p.Ile1213fs)	F8 (I1213fs)	Deletion (frameshift variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 1313039	NM_000132.4(F8):c.3603A>T (p.Leu1201Phe)	F8 (L1201F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 3253472	NM_000132.4(F8):c.2114-6139C>T	F8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 10226	NM_000132.4(F8):c.1660A>G (p.Ser554Gly)	F8 (S554G)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 10222	NM_000132.4(F8):c.1636C>T (p.Arg546Trp)	F8 (R546W)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 439678	NM_000132.4(F8):c.1569G>T (p.Leu523=)	F8	Single nucleotide variant (synonymous variant)	not provided +1 more	GPathogenic
Select item 618104	NM_000132.4(F8):c.1094A>G (p.Tyr365Cys)	F8 (Y365C)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 439674	NM_000132.4(F8):c.1010-27G>A	F8	Single nucleotide variant (intron variant)	Hereditary factor VIII deficiency disease +1 more	GBenign
Select item 10196	NM_000132.4(F8):c.935T>C (p.Phe312Ser)	F8 (F312S)	Single nucleotide variant (missense variant)	Hereditary factor IX deficiency disease +2 more	GPathogenic/Likely pathogenic
Select item 627407	NM_000132.4(F8):c.926C>T (p.Pro309Leu)	F8 (P309L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 10192	NM_000132.4(F8):c.902G>A (p.Arg301His)	F8 (R301H)	Single nucleotide variant (missense 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 1240531	NM_000132.4(F8):c.788-343C>G	F8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3252987	NM_000132.4(F8):c.787+1967C>T	F8	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 144123	GRCh38/hg38 Xq28(chrX:154984506-155098444)x1	CMC4, LOC130068895 +9 more	Copy number loss	See cases	GPathogenic
Select item 58020	GRCh38/hg38 Xq28(chrX:154984506-155098444)x0	BRCC3, CMC4 +9 more	Copy number loss	See cases	GPathogenic
Select item 1305311	NM_000132.4(F8):c.641T>A (p.Phe214Tyr)	F8 (F214Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1297951	NM_000132.4(F8):c.601+1893T>C	F8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 449370	NM_000132.4(F8):c.599A>G (p.Glu200Gly)	F8 (E200G)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GPathogenic FDA Recognized database
Select item 2579465	NM_000132.4(F8):c.580G>C (p.Ala194Pro)	F8 (A194P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309796	NM_000132.4(F8):c.456C>G (p.Ser152Arg)	F8 (S152R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 3338831	NM_000132.4(F8):c.409A>G (p.Thr137Ala)	F8 (T137A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1174595	NM_000132.4(F8):c.262A>G (p.Met88Val)	F8 (M88V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 618103	NM_000132.4(F8):c.222G>A (p.Thr74=)	F8	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 60424	GRCh38/hg38 Xq28(chrX:155007151-155491717)x3	BRCC3, CLIC2 +27 more	Copy number gain	See cases	GUncertain significance
Select item 254001	GRCh37/hg19 Xq28(chrX:153928244-154065414)x3	MPP1, GAB3 +3 more	Copy number gain	See cases	GUncertain significance
Select item 253652	GRCh37/hg19 Xp22.33-q28(chrX:71267-155246643)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253624	GRCh37/hg19 Xp22.33-q28(chrX:60701-155246271)x3	TMEM255A, TMEM31 +819 more	Copy number gain	See cases	GPathogenic
Select item 253616	GRCh37/hg19 Xq11.1-28(chrX:62063537-155246643)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253613	GRCh37/hg19 Xp22.2-q28(chrX:13147668-155250222)x3	ABCB7, ABCD1 +783 more	Copy number gain	See cases	GPathogenic
Select item 253602	GRCh37/hg19 Xp22.33-q28(chrX:176426-155236656)x3	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253588	GRCh37/hg19 Xq27.3-28(chrX:142174780-155250222)x2	ABCD1, AFF2 +130 more	Copy number gain	See cases	GPathogenic
Select item 253583	GRCh37/hg19 Xp22.33-q28(chrX:225816-155234036)x2	PNMA3, PLP1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253579	GRCh37/hg19 Xq25-28(chrX:121022022-155211482)x1	CETN2, CLIC2 +222 more	Copy number loss	See cases	GPathogenic
Select item 253572	GRCh37/hg19 Xq11.1-28(chrX:62063537-155250222)x3	ABCB7, ABCD1 +503 more	Copy number gain	See cases	GPathogenic
Select item 253514	GRCh37/hg19 Xq28(chrX:153627408-154089925)x2	CTAG1A, MPP1 +19 more	Copy number gain	See cases	GPathogenic
Select item 253495	GRCh37/hg19 Xp22.33-q28(chrX:71267-155224766)x1	MAGEB4, MAGEB5 +818 more	Copy number loss	See cases	GPathogenic
Select item 253492	GRCh37/hg19 Xp22.33-q28(chrX:71267-155255839)x1	ABCB7, ABCD1 +819 more	Copy number loss	See cases	GPathogenic
Select item 253487	GRCh37/hg19 Xp22.33-q28(chrX:2707626-155250222)x2	RPS6KA3, RPS6KA6 +819 more	Copy number gain	See cases	GPathogenic
Select item 253458	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x2	ABCB7, ABCD1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253454	GRCh37/hg19 Xq28(chrX:154115785-154528181)x1	VBP1, BRCC3 +7 more	Copy number loss	See cases	GPathogenic
Select item 253438	GRCh37/hg19 Xp22.33-q28(chrX:176426-155250222)x3	RRAGB, RS1 +819 more	Copy number gain	See cases	GPathogenic
Select item 253432	GRCh37/hg19 Xp22.33-q28(chrX:150002-155234036)x3	ARL13A, ARMCX1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253389	GRCh37/hg19 Xp22.33-q28(chrX:71267-155234036)x2	HDAC6, HTATSF1 +818 more	Copy number gain	See cases	GPathogenic
Select item 253376	GRCh37/hg19 Xp22.33-q28(chrX:70297-155255839)x3	ABCB7, ABCD1 +819 more	Copy number gain	See cases	GPathogenic
Select item 3359974	NM_000132.4(F8):c.4247C>T (p.Pro1416Leu)	F8 (P1416L)	Single nucleotide variant (missense variant)	not provided	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: 78