"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "BIN1"[gene - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 158011	NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg)	BIN1 (K542R +15 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 870689	NM_139343.3(BIN1):c.1520A>T (p.Glu507Val)	BIN1 (E476V +15 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1158777	NM_139343.3(BIN1):c.1515C>T (p.Thr505=)	BIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1001992	NM_139343.3(BIN1):c.1461+1G>A	BIN1	Single nucleotide variant (splice donor variant +1 more)	Myopathy, centronuclear, 2 +1 more	GConflicting classifications of pathogenicity
Select item 1982088	NM_139343.3(BIN1):c.1227G>A (p.Thr409=)	BIN1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, centronuclear, 2 +1 more	GLikely benign
Select item 1335398	NM_139343.3(BIN1):c.1124C>G (p.Pro375Arg)	BIN1 (P344R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2571083	NM_139343.3(BIN1):c.1017A>C (p.Pro339=)	BIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1012464	NM_139343.3(BIN1):c.955G>A (p.Ala319Thr)	BIN1 (A264T +4 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 288057	NM_139343.3(BIN1):c.924C>T (p.Pro308=)	BIN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 158021	NM_139343.3(BIN1):c.888C>T (p.Ser296=)	BIN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2651326	NM_139343.3(BIN1):c.543C>T (p.Ala181=)	BIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1138939	NM_139343.3(BIN1):c.450C>T (p.Tyr150=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2 +1 more	GLikely benign
Select item 573773	NM_139343.3(BIN1):c.393C>T (p.Gly131=)	BIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 510990	NM_139343.3(BIN1):c.84+15G>T	BIN1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 158014	NM_139343.3(BIN1):c.30G>A (p.Thr10=)	BIN1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity