Related gene-specific medical variations for Gene (Select 274) - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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
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 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 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 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 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 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 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 1676391	NM_004305.4(BIN1):c.85-5345C>T	BIN1	Single nucleotide variant	not provided	GLikely benign
Select item 1232206	NM_139343.3(BIN1):c.85-4913C>T	BIN1, LOC129934711	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 894755	NM_139343.3(BIN1):c.-146C>G	BIN1, LOC122819150	Single nucleotide variant (5 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 894754	NM_139343.3(BIN1):c.-105G>C	BIN1, LOC122819150	Single nucleotide variant (5 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 894753	NM_139343.3(BIN1):c.-105G>T	BIN1, LOC122819150	Single nucleotide variant (5 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 678248	NM_139343.3(BIN1):c.613-245C>G	BIN1, LOC112806045	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 331063	NM_139343.3(BIN1):c.-197C>A	BIN1, LOC122819150	Single nucleotide variant (5 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 331062	NM_139343.3(BIN1):c.-192G>A	LOC122819150, BIN1	Single nucleotide variant (5 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 331061	NM_139343.3(BIN1):c.-177_-174dup	BIN1, LOC122819150	Duplication (5 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 331060	NM_139343.3(BIN1):c.-163T>C	BIN1, LOC122819150	Single nucleotide variant (5 prime UTR variant)	Myopathy, centronuclear, 2 +1 more	GUncertain significance
Select item 331059	NM_139343.3(BIN1):c.-114del	BIN1, LOC122819150	Deletion (5 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 331058	NM_139343.3(BIN1):c.-62G>A	BIN1, LOC122819150	Single nucleotide variant (5 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance

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Links from Gene

Items: 20