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
single nucleotide variant	NM_000132.4(F8):c.1648C>G (p.Arg550Gly)	F8	Likely pathogenic	X	154185336	154185336	G	C	criteria provided, single submitter	ClinGen:CA255114,UniProtKB:P00451#VAR_001109,OMIM:300841.0141
single nucleotide variant	NM_000132.4(F8):c.1649G>A (p.Arg550His)	F8	Pathogenic	X	154185335	154185335	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255115,UniProtKB:P00451#VAR_001110,OMIM:300841.0142
single nucleotide variant	NM_000132.4(F8):c.1654T>C (p.Tyr552His)	F8	Likely pathogenic	X	154185330	154185330	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.1660A>G (p.Ser554Gly)	F8	Pathogenic/Likely pathogenic	X	154185324	154185324	T	C	criteria provided, multiple submitters, no conflicts	ClinGen:CA255116,UniProtKB:P00451#VAR_001111,OMIM:300841.0143
single nucleotide variant	NM_000132.4(F8):c.1700T>C (p.Ile567Thr)	F8	Likely pathogenic	X	154185284	154185284	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_000132.4(F8):c.1778T>A (p.Ile593Asn)	F8	Likely pathogenic	X	154182292	154182292	A	T	criteria provided, single submitter	ClinGen:CA414911137
single nucleotide variant	NM_000132.4(F8):c.1804C>G (p.Arg602Gly)	F8	Pathogenic/Likely pathogenic	X	154182266	154182266	G	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_000132.4(F8):c.1804C>T (p.Arg602Ter)	F8	Pathogenic	X	154182266	154182266	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255124,OMIM:300841.0149
single nucleotide variant	NM_000132.4(F8):c.1834C>T (p.Arg612Cys)	F8	Pathogenic	X	154182236	154182236	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255129,UniProtKB:P00451#VAR_001120,OMIM:300841.0153
Deletion	NM_000132.4(F8):c.1894del (p.Ile632fs)	F8	Likely pathogenic	X	154182176	154182176	AT	A	criteria provided, single submitter	-