"Revvity Omics, Revvity"[submitter] AND "BIN1"[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2439520	NM_139343.3(BIN1):c.1778C>T (p.Pro593Leu)	BIN1 (P385L +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 858994	NM_139343.3(BIN1):c.1710C>G (p.Asp570Glu)	BIN1 (D386E +15 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1009179	NM_139343.3(BIN1):c.1670A>T (p.Glu557Val)	BIN1 (E349V +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2439522	NM_139343.3(BIN1):c.1620G>T (p.Gln540His)	BIN1 (Q332H +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2367119	NM_139343.3(BIN1):c.1492T>C (p.Phe498Leu)	BIN1 (F359L +15 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2439524	NM_139343.3(BIN1):c.1399G>A (p.Gly467Arg)	BIN1 (G313R +12 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, centronuclear, 2	GUncertain significance
Select item 837032	NM_139343.3(BIN1):c.1358C>T (p.Pro453Leu)	BIN1 (P366L +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2439518	NM_139343.3(BIN1):c.1352C>A (p.Ala451Asp)	BIN1 (A333D +6 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, centronuclear, 2	GUncertain significance
Select item 1800820	NM_139343.3(BIN1):c.1349C>T (p.Thr450Met)	BIN1 (T332M +6 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, centronuclear, 2 +2 more	GUncertain significance
Select item 530867	NM_139343.3(BIN1):c.1282G>A (p.Gly428Ser)	BIN1 (G428S +6 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, centronuclear, 2 +1 more	GUncertain significance
Select item 420403	NM_139343.3(BIN1):c.1264-11_1270del	BIN1	Deletion (splice acceptor variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 648328	NM_139343.3(BIN1):c.1205C>T (p.Thr402Met)	BIN1 (T371M +3 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, centronuclear, 2	GUncertain significance
Select item 593407	NM_139343.3(BIN1):c.1196C>T (p.Pro399Leu)	BIN1 (P399L +3 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, centronuclear, 2 +1 more	GUncertain significance
Select item 664184	NM_139343.3(BIN1):c.1181A>G (p.Asp394Gly)	BIN1 (D363G +3 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, centronuclear, 2	GUncertain significance
Select item 284019	NM_139343.3(BIN1):c.1154C>T (p.Ser385Leu)	BIN1 (S385L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 573331	NM_139343.3(BIN1):c.1138G>A (p.Ala380Thr)	BIN1 (A380T +3 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, centronuclear, 2	GUncertain significance
Select item 383228	NM_139343.3(BIN1):c.1114G>A (p.Val372Met)	BIN1 (V372M +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 432181	NM_139343.3(BIN1):c.1002+2T>C	BIN1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 331052	NM_139343.3(BIN1):c.961G>A (p.Gly321Arg)	BIN1 (G321R +4 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 389673	NM_139343.3(BIN1):c.925G>A (p.Glu309Lys)	BIN1 (E309K +4 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2439523	NM_139343.3(BIN1):c.908C>T (p.Ser303Phe)	BIN1 (S248F +4 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 420590	NM_139343.3(BIN1):c.893C>T (p.Ser298Leu)	BIN1 (S298L +4 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2 +1 more	GUncertain significance
Select item 388450	NM_139343.3(BIN1):c.805G>A (p.Gly269Ser)	BIN1 (G269S +3 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2439519	NM_139343.3(BIN1):c.785A>G (p.Asn262Ser)	BIN1 (N207S +3 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 1400065	NM_139343.3(BIN1):c.784A>C (p.Asn262His)	BIN1 (N231H +3 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 290879	NM_139343.3(BIN1):c.715G>A (p.Val239Ile)	BIN1 (V239I +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 158016	NM_139343.3(BIN1):c.696C>A (p.Asn232Lys)	BIN1 (N232K +3 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2439525	NM_139343.3(BIN1):c.376A>G (p.Met126Val)	BIN1 (M102V +2 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2439521	NM_139343.3(BIN1):c.239A>G (p.Lys80Arg)	BIN1 (K53R +2 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2688670	NM_139343.3(BIN1):c.196C>T (p.Arg66Trp)	BIN1 (R39W +2 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance

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Items: 31