遺伝性出血性末梢血管拡張症 (オスラー病)

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
insertion	NM_005359.5(SMAD4):c.731_732insGCCC(p.Gln245Profs)	SMAD4	Pathogenic	18	48584558	48584559	G	GCCGC	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.989A>G (p.Glu330Gly)	SMAD4	Likely pathogenic	18	48591826	48591826	A	G	criteria provided, single submitter	UniProtKB (protein):Q13485#VAR_022833,UniProtKB (variants):VAR_022833
deletion	NM_005359.6(SMAD4):c.1037del (p.Pro346fs)	SMAD4	Pathogenic	18	48591872	48591872	GC	G	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1054G>A (p.Gly352Arg)	SMAD4	Pathogenic	18	48591891	48591891	G	A	criteria provided, single submitter	OMIM Allelic Variant:600993.0011,UniProtKB (protein):Q13485#VAR_019571,UniProtKB (variants):VAR_019571
single nucleotide variant	NM_005359.6(SMAD4):c.1081C>G (p.Arg361Gly)	SMAD4	Likely pathogenic	18	48591918	48591918	C	G	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1082G>A (p.Arg361His)	SMAD4	Pathogenic	18	48591919	48591919	G	A	criteria provided, multiple submitters, no conflicts	UniProtKB (protein):Q13485#VAR_036477
deletion	NM_005359.6(SMAD4):c.1242del (p.Asp415fs)	SMAD4	Pathogenic	18	48593491	48593491	TA	T	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1333C>T (p.Arg445Ter)	SMAD4	Pathogenic	18	48603032	48603032	C	T	criteria provided, multiple submitters, no conflicts	OMIM Allelic Variant:600993.0014
deletion	NM_005359.6(SMAD4):c.1361_1364del (p.Ala454fs)	SMAD4	Pathogenic	18	48603060	48603063	GCACA	G	criteria provided, single submitter	-
single nucleotide variant	NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr)	SMAD4	Pathogenic	18	48604677	48604677	T	C	criteria provided, multiple submitters, no conflicts	OMIM Allelic Variant:600993.0015,UniProtKB (protein):Q13485#VAR_067603,UniProtKB (variants):VAR_067603