"GeneDx"[submitter] AND "F10"[gene] - ClinVar

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Items: 36

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59924	GRCh38/hg38 13q32.3-34(chr13:100039860-114327173)x3	LOC132090158, LOC132090159 +395 more	Copy number gain	See cases	GPathogenic
Select item 152824	GRCh38/hg38 13q33.1-34(chr13:101762788-114340285)x3	LOC130010172, LOC130010173 +367 more	Copy number gain	See cases	GPathogenic
Select item 57685	GRCh38/hg38 13q33.1-34(chr13:102114025-114327173)x1	GAS6-AS1, GAS6-DT +363 more	Copy number loss	See cases	GPathogenic
Select item 57709	GRCh38/hg38 13q33.2-34(chr13:104461586-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 57710	GRCh38/hg38 13q33.2-34(chr13:104698508-114327173)x1	ABHD13, ADPRHL1 +331 more	Copy number loss	See cases	GPathogenic
Select item 59929	GRCh38/hg38 13q34(chr13:112292922-113636272)x3	ADPRHL1, ATP11A +68 more	Copy number gain	See cases	GPathogenic
Select item 12080	NM_019616.4(F7):c.1172G>A (p.Arg391Gln)	F10, F7 (R413Q +2 more)	Single nucleotide variant (missense variant +1 more)	Factor X deficiency +3 more	GBenign
Select item 1285884	NC_000013.11:g.113122509_113122513TG[2]ATTGTGA[1]	F10	Microsatellite	not provided	GBenign
Select item 1261160	NC_000013.11:g.113122633T>C	F10	Single nucleotide variant	not provided	GBenign
Select item 1223559	NC_000013.11:g.113122635C>A	F10	Single nucleotide variant	not provided	GBenign
Select item 311266	NM_000504.4(F10):c.-40C>T	F10, F7	Single nucleotide variant (5 prime UTR variant)	Factor VII deficiency +2 more	GBenign/Likely benign
Select item 1249655	NM_000504.4(F10):c.70+270A>G	F10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178123	NM_000504.4(F10):c.71-42_71-41insAGAGGAGCCTGGGTGA	F10, F10-AS1	Insertion (intron variant)	not provided	GBenign
Select item 1250576	NM_000504.4(F10):c.231+64C>T	F10, F10-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290740	NM_000504.4(F10):c.231+89G>A	F10, F10-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226473	NM_000504.4(F10):c.231+295T>G	F10, F10-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256307	NM_000504.4(F10):c.232-17T>C	F10	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1232680	NM_000504.4(F10):c.256+98C>A	F10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289702	NM_000504.4(F10):c.370+65G>A	F10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 627060	NM_000504.4(F10):c.400G>A (p.Gly134Arg)	F10 (G134R)	Single nucleotide variant (missense variant +1 more)	Hereditary factor X deficiency disease +1 more	GConflicting classifications of pathogenicity
Select item 12061	NM_000504.4(F10):c.424G>A (p.Glu142Lys)	F10 (E142K)	Single nucleotide variant (missense variant +1 more)	Abnormal bleeding +4 more	GConflicting classifications of pathogenicity
Select item 883156	NM_000504.4(F10):c.460G>A (p.Gly154Arg)	F10 (G154R)	Single nucleotide variant (missense variant +1 more)	Hereditary factor X deficiency disease +1 more	GUncertain significance
Select item 1289208	NM_000504.4(F10):c.502+288A>G	F10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288567	NM_000504.4(F10):c.502+307T>C	F10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 256308	NM_000504.4(F10):c.792C>T (p.Thr264=)	F10	Single nucleotide variant (synonymous variant)	Hereditary factor X deficiency disease +2 more	GBenign
Select item 1276744	NM_000504.4(F10):c.865+33A>G	F10	Single nucleotide variant (intron variant)	Hereditary factor X deficiency disease +1 more	GBenign
Select item 1268896	NM_000504.4(F10):c.865+90G>C	F10	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 619972	NM_000504.4(F10):c.872G>A (p.Arg291Gln)	F10 (R291Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1707756	NM_000504.4(F10):c.902C>T (p.Ala301Val)	F10 (A257V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1305191	NM_000504.4(F10):c.992C>T (p.Pro331Leu)	F10 (P287L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 427136	NM_000504.4(F10):c.1105G>A (p.Glu369Lys)	F10 (E369K +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely pathogenic
Select item 3340672	NM_000504.4(F10):c.1382G>A (p.Trp461Ter)	F10 (W417* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 1181357	NC_000013.11:g.113149822C>G	F10	Single nucleotide variant	not provided	GBenign
Select item 253491	GRCh37/hg19 13q31.2-34(chr13:89796110-115083342)x1	ABCC4, ABHD13 +94 more	Copy number loss	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	GTF2F2, LINC00567 +332 more	Copy number gain	See cases	GPathogenic
Select item 3359830	NM_000504.4(F10):c.316G>A (p.Gly106Arg)	F10 (G106R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 36