"Baylor Genetics"[submitter] AND "F8"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1029498	NM_000132.4(F8):c.6658G>C (p.Ala2220Pro)	F8 (A85P +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2441958	NM_000132.4(F8):c.3213G>A (p.Met1071Ile)	F8 (M1071I)	Single nucleotide variant (missense variant)	Hereditary factor VIII deficiency disease	GUncertain significance
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 625803	GRCh37/hg19 Xq28(chrX:153761240-155227607)	BRCC3, CLIC2 +22 more	Copy number loss	not provided	GLikely pathogenic
Select item 625671	GRCh37/hg19 Xq26.3-28(chrX:134975270-155233945)	ABCD1, ADGRG4 +160 more	Copy number gain	not provided	GPathogenic

ClinVar