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

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Items: 82

	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 3372432	NM_000132.4(F8):c.6369G>A (p.Met2123Ile)	F8 (M2123I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 810971	NM_000132.4(F8):c.6276G>A (p.Val2092=)	F8	Single nucleotide variant (synonymous variant)	Hereditary factor VIII deficiency disease +1 more	GConflicting classifications of pathogenicity
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 3368419	NM_000132.4(F8):c.4826C>T (p.Thr1609Ile)	F8 (T1609I)	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)	Thrombophilia, X-linked, due to factor 8 defect +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)	Hereditary factor VIII deficiency disease +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 3369429	NM_000132.4(F8):c.643A>T (p.Ile215Leu)	F8 (I215L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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

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Items: 82