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_000133.4(F9):c.677G>A (p.Arg226Gln)	F9	Pathogenic	X	138633377	138633377	G	A	criteria provided, single submitter	ClinGen:CA121128,UniProtKB:P00740#VAR_006572,OMIM:300746.0031
single nucleotide variant	NM_000133.4(F9):c.676C>T (p.Arg226Trp)	F9	Pathogenic/Likely pathogenic	X	138633376	138633376	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255350,UniProtKB:P00740#VAR_006570,OMIM:300746.0030
single nucleotide variant	NM_000133.4(F9):c.572G>A (p.Arg191His)	F9	Pathogenic	X	138633272	138633272	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255342,UniProtKB:P00740#VAR_006568,OMIM:300746.0027
single nucleotide variant	NM_000133.4(F9):c.571C>T (p.Arg191Cys)	F9	Pathogenic/Likely pathogenic	X	138633271	138633271	C	T	criteria provided, multiple submitters, no conflicts	ClinGen:CA255340,UniProtKB:P00740#VAR_006569,OMIM:300746.0026
Deletion	NM_000133.4(F9):c.521-35_723+84del	F9	Pathogenic	X	138633185	138633506	AAATATCAGGTTACTAATTTTTCTTCTATTTTTCTAGTGCCATTTCCATGTGGAAGAGTTTCTGTTTCACAAACTTCTAAGCTCACCCGTGCTGAGACTGTTTTTCCTGATGTGGACTATGTAAATTCTACTGAAGCTGAAACCATTTTGGATAACATCACTCAAAGCACCCAATCATTTAATGACTTCACTCGGGTTGTTGGTGGAGAAGATGCCAAACCAGGTCAATTCCCTTGGCAGGTACTTTATACTGATGGTGTGTCAAAACTGGAGCTCAGCTGGCAAGACACAGGCCAGGTGGGAGACTGAGGCTATTTTACTAG	A	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.484C>T (p.Arg162Ter)	F9	Pathogenic	X	138630614	138630614	C	T	criteria provided, single submitter	ClinGen:CA255430,OMIM:300746.0084
single nucleotide variant	NM_000133.4(F9):c.407T>C (p.Ile136Thr)	F9	Pathogenic	X	138630537	138630537	T	C	criteria provided, single submitter	-
single nucleotide variant	NM_000133.4(F9):c.316G>A (p.Gly106Ser)	F9	Pathogenic	X	138623273	138623273	G	A	criteria provided, multiple submitters, no conflicts	ClinGen:CA255329,UniProtKB:P00740#VAR_006549,OMIM:300746.0022
single nucleotide variant	NM_000133.4(F9):c.301C>G (p.Pro101Ala)	F9	Pathogenic	X	138623258	138623258	C	G	criteria provided, single submitter	ClinGen:CA255326,OMIM:300746.0021
single nucleotide variant	NM_000133.4(F9):c.280G>A (p.Gly94Arg)	F9	Likely pathogenic	X	138623237	138623237	G	A	criteria provided, single submitter	ClinGen:CA414437361