"Ambry Genetics"[submitter] AND "BIN1"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 858994	NM_139343.3(BIN1):c.1710C>G (p.Asp570Glu)	BIN1 (D386E +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2 +1 more	GUncertain significance
Select item 2474437	NM_139343.3(BIN1):c.1508A>G (p.Asn503Ser)	BIN1 (N319S +15 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367119	NM_139343.3(BIN1):c.1492T>C (p.Phe498Leu)	BIN1 (F359L +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2 +1 more	GUncertain significance
Select item 3133998	NM_139343.3(BIN1):c.1487A>G (p.Glu496Gly)	BIN1 (E312G +15 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 461705	NM_139343.3(BIN1):c.1439C>T (p.Thr480Met)	BIN1 (T480M +12 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, centronuclear, 2 +2 more	GUncertain significance
Select item 1305343	NM_139343.3(BIN1):c.1435G>C (p.Glu479Gln)	BIN1 (E325Q +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 851712	NM_139343.3(BIN1):c.1403C>T (p.Thr468Ile)	BIN1 (T357I +12 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3260932	NM_139343.3(BIN1):c.1267A>G (p.Thr423Ala)	BIN1 (T348A +6 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Myopathy, centronuclear, 2 +2 more	GUncertain significance
Select item 194281	NM_139343.3(BIN1):c.1142C>T (p.Pro381Leu)	BIN1 (P381L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 3260934	NM_139343.3(BIN1):c.1141C>T (p.Pro381Ser)	BIN1 (P381S +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2324912	NM_139343.3(BIN1):c.1086T>A (p.Phe362Leu)	BIN1 (F331L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 583021	NM_139343.3(BIN1):c.1046C>T (p.Pro349Leu)	BIN1 (P349L +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2235650	NM_139343.3(BIN1):c.1043C>T (p.Thr348Ile)	BIN1 (T332I +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3133997	NM_139343.3(BIN1):c.1038A>T (p.Lys346Asn)	BIN1 (K330N +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 954970	NM_139343.3(BIN1):c.968C>T (p.Thr323Met)	BIN1 (T292M +4 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2 +1 more	GUncertain significance
Select item 331052	NM_139343.3(BIN1):c.961G>A (p.Gly321Arg)	BIN1 (G321R +4 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2 +2 more	GUncertain significance
Select item 935698	NM_139343.3(BIN1):c.920C>G (p.Thr307Ser)	BIN1 (T280S +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2309871	NM_139343.3(BIN1):c.896C>T (p.Pro299Leu)	BIN1 (P244L +4 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 892742	NM_139343.3(BIN1):c.791A>G (p.Asn264Ser)	BIN1 (N209S +3 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2 +1 more	GUncertain significance
Select item 967645	NM_139343.3(BIN1):c.478C>T (p.Leu160Phe)	BIN1 (L133F +2 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2 +1 more	GUncertain significance
Select item 1918826	NM_139343.3(BIN1):c.403G>A (p.Asp135Asn)	BIN1 (D108N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2311381	NM_139343.3(BIN1):c.310G>T (p.Ala104Ser)	BIN1 (A104S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3260933	NM_139343.3(BIN1):c.248A>G (p.Asn83Ser)	BIN1 (N59S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1909275	NM_139343.3(BIN1):c.167C>T (p.Thr56Met)	BIN1 (T32M +2 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2 +1 more	GUncertain significance

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Items: 28