"ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1338738	NC_000013.11:g.109179481_114327244del	ADPRHL1, ANKRD10 +261 more	Deletion	Factor X deficiency +1 more	GPathogenic
Select item 2572121	NM_000504.4(F10):c.119G>C (p.Arg40Thr)	F10, F10-AS1 (R40T)	Single nucleotide variant (missense variant)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 1684308	NM_000504.4(F10):c.162_163del (p.Glu56fs)	F10, F10-AS1 (E56fs)	Deletion (frameshift variant)	Hereditary factor X deficiency disease	GPathogenic
Select item 1684307	NM_000504.4(F10):c.205G>A (p.Glu69Lys)	F10, F10-AS1 (E69K)	Single nucleotide variant (missense variant)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 2572143	NM_000504.4(F10):c.212T>C (p.Phe71Ser)	F10, F10-AS1 (F71S)	Single nucleotide variant (missense variant)	Hereditary factor X deficiency disease	GLikely pathogenic
Select item 1684306	NM_000504.4(F10):c.231G>C (p.Thr77=)	F10, F10-AS1	Single nucleotide variant (synonymous variant)	Hereditary factor X deficiency disease	GUncertain significance

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