血友病A/B - MGenReviews

血友病A/B

小児・神経疾患

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Type	Name	Gene Symbol	Clinical Significance	Chromosome	Start	Stop	Reference Allele	Alternate Allele	Review Status	Other IDs
Type	Name	Gene Symbol	Clinical Significance	Chromosome	(GRCh37)		Reference Allele	Alternate Allele	Review Status	Other IDs
Deletion	NM_000133.4(F9):c.276del (p.Asp93fs)	F9	Pathogenic	X	138619543	138619543	GT	G	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.88G>C (p.Val30Leu)	F9	Pathogenic	X	138613011	138613011	G	C	criteria provided, single submitter	-
Deletion	NM_000132.4(F8):c.379del (p.Ala127fs)	F8	Pathogenic	X	154225257	154225257	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.575T>C (p.Ile192Thr)	F8	Pathogenic	X	154221237	154221237	A	G	criteria provided, single submitter	-
Deletion	NM_000132.4(F8):c.2945del (p.Asn982fs)	F8	Pathogenic	X	154159120	154159120	AT	A	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.4042A>T (p.Lys1348Ter)	F8	Pathogenic	X	154158023	154158023	T	A	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.5605G>A (p.Gly1869Ser)	F8	Pathogenic	X	154132781	154132781	C	T	criteria provided, single submitter	-
Deletion	NM_000132.4(F8):c.5954del (p.Arg1985fs)	F8	Pathogenic	X	154132225	154132225	TC	T	criteria provided, single submitter	-
Deletion	NM_000132.4(F8):c.5960_5964del (p.Lys1987fs)	F8	Pathogenic	X	154132215	154132219	CCTCTT	C	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.253-1G>C	F9	Pathogenic	X	138619520	138619520	G	C	criteria provided, single submitter	-