"PreventionGenetics, part of Exact Sciences"[submitter] AND "BIN1"[gen - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2731487	NM_139343.3(BIN1):c.1674+7G>C	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2 +1 more	GLikely benign
Select item 158011	NM_139343.3(BIN1):c.1625A>G (p.Lys542Arg)	BIN1 (K542R +15 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 158010	NM_139343.3(BIN1):c.1595C>T (p.Thr532Met)	BIN1 (T532M +15 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 262475	NM_139343.3(BIN1):c.1587C>T (p.His529=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2 +1 more	GLikely benign
Select item 262474	NM_139343.3(BIN1):c.1573-18G>C	BIN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 158008	NM_139343.3(BIN1):c.1362G>T (p.Gly454=)	BIN1	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 262473	NM_139343.3(BIN1):c.1292C>T (p.Pro431Leu)	BIN1 (P431L +6 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, centronuclear, 2 +2 more	GBenign/Likely benign
Select item 262472	NM_139343.3(BIN1):c.1264-8G>A	BIN1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 210527	NM_139343.3(BIN1):c.1263+11C>T	BIN1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 331048	NM_139343.3(BIN1):c.1143G>A (p.Pro381=)	BIN1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3057118	NM_139343.3(BIN1):c.1132-22TGC[5]	BIN1	Microsatellite (intron variant)	BIN1-related disorder	GLikely benign
Select item 158007	NM_139343.3(BIN1):c.1132-7T>C	BIN1	Single nucleotide variant (intron variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 262471	NM_139343.3(BIN1):c.1131+18C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2 +1 more	GBenign
Select item 262470	NM_139343.3(BIN1):c.1003-15G>A	BIN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 158025	NM_139343.3(BIN1):c.957C>T (p.Ala319=)	BIN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 262480	NM_139343.3(BIN1):c.906C>T (p.Gly302=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2 +2 more	GConflicting classifications of pathogenicity
Select item 158022	NM_139343.3(BIN1):c.894G>A (p.Ser298=)	BIN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 158021	NM_139343.3(BIN1):c.888C>T (p.Ser296=)	BIN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 461712	NM_139343.3(BIN1):c.858-5C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2 +2 more	GBenign/Likely benign
Select item 158020	NM_139343.3(BIN1):c.858-12C>A	BIN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1208027	NM_139343.3(BIN1):c.858-1472C>G	BIN1 (L260V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GLikely benign
Select item 158019	NM_139343.3(BIN1):c.775-4G>A	BIN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 158018	NM_139343.3(BIN1):c.714C>T (p.Tyr238=)	BIN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 262479	NM_139343.3(BIN1):c.699-13C>T	BIN1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 158017	NM_139343.3(BIN1):c.698+10A>G	BIN1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 766827	NM_139343.3(BIN1):c.675G>A (p.Glu225=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2 +1 more	GConflicting classifications of pathogenicity
Select item 262478	NM_139343.3(BIN1):c.630C>T (p.Ile210=)	BIN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 158015	NM_139343.3(BIN1):c.486T>C (p.Thr162=)	BIN1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 262477	NM_139343.3(BIN1):c.402C>T (p.Pro134=)	BIN1	Single nucleotide variant (synonymous variant)	not specified +2 more	GLikely benign
Select item 3051194	NM_139343.3(BIN1):c.342C>T (p.Tyr114=)	BIN1	Single nucleotide variant (synonymous variant)	BIN1-related disorder	GLikely benign
Select item 262476	NM_139343.3(BIN1):c.316-19G>A	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2 +1 more	GBenign/Likely benign
Select item 705691	NM_139343.3(BIN1):c.285C>T (p.Pro95=)	BIN1	Single nucleotide variant (synonymous variant)	BIN1-related disorder +1 more	GLikely benign
Select item 2998596	NM_139343.3(BIN1):c.177C>G (p.Thr59=)	BIN1	Single nucleotide variant (synonymous variant)	BIN1-related disorder +1 more	GLikely benign
Select item 3037715	NM_139343.3(BIN1):c.85-5134A>C	BIN1 (M2L)	Single nucleotide variant (missense variant +1 more)	BIN1-related disorder	GBenign
Select item 262469	NM_139343.3(BIN1):c.-27C>T	BIN1	Single nucleotide variant (5 prime UTR variant)	Myopathy, centronuclear, 2 +1 more	GBenign

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Items: 35