"Genome-Nilou Lab"[submitter] AND "BIN1"[gene] - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 678147	NM_139343.3(BIN1):c.1674+56G>A	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2 +1 more	GBenign
Select item 678146	NM_139343.3(BIN1):c.1573-63C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2 +1 more	GBenign
Select item 678145	NM_139343.3(BIN1):c.1573-72C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2 +1 more	GBenign
Select item 678269	NM_139343.3(BIN1):c.1573-128T>A	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2 +1 more	GBenign
Select item 678267	NM_139343.3(BIN1):c.1372-90C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2 +1 more	GBenign
Select item 678252	NM_139343.3(BIN1):c.1132-126_1132-125dup	BIN1	Duplication (intron variant)	Myopathy, centronuclear, 2 +1 more	GBenign
Select item 678144	NM_139343.3(BIN1):c.1002+163T>C	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2 +1 more	GBenign
Select item 158020	NM_139343.3(BIN1):c.858-12C>A	BIN1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 678250	NM_139343.3(BIN1):c.774+62G>A	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2 +1 more	GBenign
Select item 158017	NM_139343.3(BIN1):c.698+10A>G	BIN1	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 158015	NM_139343.3(BIN1):c.486T>C (p.Thr162=)	BIN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 678128	NM_139343.3(BIN1):c.412-25T>C	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2 +1 more	GBenign
Select item 262469	NM_139343.3(BIN1):c.-27C>T	BIN1	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GBenign