脊髄性筋萎縮症

小児・神経疾患

表のタイトル行が青色の項目は、クリックすることでソートすることができます。

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_000344.4(SMN1):c.835-21_*3+17del	SMN1	Pathogenic	5	70247747	70247838	ACTTCCTTTATTTTCCTTACAGGGTTTCAGACAAAATCAAAAAGAAGGAAGGTGCTCACATTCCTTAAATTAAGGAGTAAGTCTGCCAGCATT	A	criteria provided, single submitter	-
Deletion	NC_000005.10:g.(?_70951941)_(70951991_?)del	SMN1	Pathogenic	5	70247768	70247818	na	na	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn)	IGHMBP2	Pathogenic/Likely pathogenic	11	68702827	68702827	G	A	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.257-2A>G	IGHMBP2	Likely pathogenic	11	68675611	68675611	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.826C>T (p.Gln276Ter)	IGHMBP2	Pathogenic	11	68682405	68682405	C	T	criteria provided, single submitter	-
Duplication	NM_002180.3(IGHMBP2):c.1313dup (p.Thr439fs)	IGHMBP2	Pathogenic/Likely pathogenic	11	68700843	68700844	C	CT	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1156T>C (p.Trp386Arg)	IGHMBP2	Pathogenic/Likely pathogenic	11	68696746	68696746	T	C	criteria provided, multiple submitters, no conflicts	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1516G>T (p.Glu506Ter)	IGHMBP2	Pathogenic	11	68701360	68701360	G	T	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.1633-2A>G	IGHMBP2	Likely pathogenic	11	68702765	68702765	A	G	criteria provided, single submitter	-
single nucleotide variant	NM_002180.3(IGHMBP2):c.2575C>T (p.Gln859Ter)	IGHMBP2	Pathogenic	11	68704523	68704523	C	T	criteria provided, single submitter	-