BIN1[gene] - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 1 to 100 of 748

<< First< Prev

Page of 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153085	GRCh38/hg38 2q14.1-14.3(chr2:115302067-129071130)x1	AMMECR1L, BIN1 +254 more	Copy number loss	See cases	GPathogenic
Select item 60184	GRCh38/hg38 2q14.1-21.3(chr2:118086324-134964738)x1	ACMSD, AMER3 +391 more	Copy number loss	See cases	GPathogenic
Select item 60185	GRCh38/hg38 2q14.3(chr2:121824798-128870804)x1	AMMECR1L, BIN1 +121 more	Copy number loss	See cases	GPathogenic
Select item 60186	GRCh38/hg38 2q14.3(chr2:122324343-128371704)x1	LOC115945190, LOC120961783 +101 more	Copy number loss	See cases	GPathogenic
Select item 148393	GRCh38/hg38 2q14.3-21.1(chr2:122847356-129545581)x1	AMMECR1L, BIN1 +116 more	Copy number loss	See cases	GLikely pathogenic
Select item 146132	GRCh38/hg38 2q14.3(chr2:123169989-128460075)x1	AMMECR1L, BIN1 +100 more	Copy number loss	See cases	GPathogenic
Select item 147544	GRCh38/hg38 2q14.3-22.1(chr2:123445762-140592538)x1	ACMSD, AMER3 +336 more	Copy number loss	See cases	GPathogenic
Select item 1180433	NC_000002.12:g.124348648_129410245del	LOC129934710, LOC129934711 +112 more	Deletion	See cases	Gnot provided
Select item 331032	NM_139343.2(BIN1):c.*501G>A	BIN1	Single nucleotide variant (3 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 331033	NM_139343.3(BIN1):c.*479del	BIN1	Deletion (3 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 893781	NM_139343.3(BIN1):c.*470A>C	BIN1	Single nucleotide variant (3 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 331034	NM_139343.3(BIN1):c.*449G>A	BIN1	Single nucleotide variant (3 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 894701	NM_139343.3(BIN1):c.*418C>T	BIN1	Single nucleotide variant (3 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 331035	NM_139343.3(BIN1):c.*413G>A	BIN1	Single nucleotide variant (3 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 894702	NM_139343.3(BIN1):c.*303A>G	BIN1	Single nucleotide variant (3 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 331036	NM_139343.3(BIN1):c.*301C>T	BIN1	Single nucleotide variant (3 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 894703	NM_139343.3(BIN1):c.*247G>T	BIN1	Single nucleotide variant (3 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 331037	NM_139343.3(BIN1):c.*243T>G	BIN1	Single nucleotide variant (3 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 331038	NM_139343.3(BIN1):c.*214G>A	BIN1	Single nucleotide variant (3 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 331039	NM_139343.3(BIN1):c.*194C>T	BIN1	Single nucleotide variant (3 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 892713	NM_139343.3(BIN1):c.*82C>A	BIN1	Single nucleotide variant (3 prime UTR variant)	Myopathy, centronuclear, 2 +1 more	GBenign/Likely benign
Select item 331040	NM_139343.3(BIN1):c.*82C>T	BIN1	Single nucleotide variant (3 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 331041	NM_139343.3(BIN1):c.*55G>A	BIN1	Single nucleotide variant (3 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 892714	NM_139343.3(BIN1):c.*22C>T	BIN1	Single nucleotide variant (3 prime UTR variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 656303	NC_000002.11:g.(?_127806092)_(127834292_?)dup	BIN1, LOC112806045	Duplication	Myopathy, centronuclear, 2	GUncertain significance
Select item 389326	NM_139343.3(BIN1):c.*1C>T	BIN1	Single nucleotide variant (3 prime UTR variant)	Myopathy, centronuclear, 2 +1 more	GConflicting classifications of pathogenicity
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 2916898	NM_139343.3(BIN1):c.1774G>T (p.Val592Phe)	BIN1 (V384F +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2913769	NM_139343.3(BIN1):c.1773G>A (p.Arg591=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 1054998	NM_139343.3(BIN1):c.1771A>G (p.Arg591Gly)	BIN1 (R383G +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2072491	NM_139343.3(BIN1):c.1766C>T (p.Thr589Ile)	BIN1 (T381I +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 972218	NM_139343.3(BIN1):c.1756G>A (p.Glu586Lys)	BIN1 (E417K +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2039857	NM_139343.3(BIN1):c.1755C>T (p.Pro585=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 793833	NM_139343.3(BIN1):c.1752C>T (p.Phe584=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 1017301	NM_139343.3(BIN1):c.1751T>C (p.Phe584Ser)	BIN1 (F376S +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 579601	NM_139343.3(BIN1):c.1747G>A (p.Val583Ile)	BIN1 (V583I +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2719529	NM_139343.3(BIN1):c.1746C>T (p.Gly582=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 578253	NM_139343.3(BIN1):c.1741C>T (p.Arg581Cys)	BIN1 (R581C +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 666023	NM_139343.3(BIN1):c.1729C>G (p.Leu577Val)	BIN1 (L393V +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 1412516	NM_139343.3(BIN1):c.1726_1727delinsTT (p.Glu576Leu)	BIN1 (E392L +15 more)	Indel (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 331042	NM_139343.3(BIN1):c.1727A>T (p.Glu576Val)	BIN1 (E576V +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 8299	NM_139343.3(BIN1):c.1723A>T (p.Lys575Ter)	BIN1 (K575* +15 more)	Single nucleotide variant (nonsense)	Myopathy, centronuclear, 2	GLikely pathogenic
Select item 158013	NM_139343.3(BIN1):c.1713G>A (p.Trp571Ter)	BIN1 (W571* +15 more)	Single nucleotide variant (nonsense)	Myopathy, centronuclear, 2	GPathogenic
Select item 2770679	NM_139343.3(BIN1):c.1712G>A (p.Trp571Ter)	BIN1 (W460* +15 more)	Single nucleotide variant (nonsense)	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)	Myopathy, centronuclear, 2 +1 more	GUncertain significance
Select item 158012	NM_139343.3(BIN1):c.1710C>T (p.Asp570=)	BIN1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 461708	NM_139343.3(BIN1):c.1708G>A (p.Asp570Asn)	BIN1 (D570N +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 3017534	NM_139343.3(BIN1):c.1707C>T (p.Ser569=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 1091600	NM_139343.3(BIN1):c.1698G>A (p.Val566=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 1041563	NM_139343.3(BIN1):c.1696G>T (p.Val566Leu)	BIN1 (V443L +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 1027742	NM_139343.3(BIN1):c.1696G>A (p.Val566Met)	BIN1 (V397M +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2077543	NM_139343.3(BIN1):c.1695C>T (p.Gly565=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 1962000	NM_139343.3(BIN1):c.1695C>A (p.Gly565=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2724667	NM_139343.3(BIN1):c.1692G>A (p.Met564Ile)	BIN1 (M395I +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 1383939	NM_139343.3(BIN1):c.1691T>C (p.Met564Thr)	BIN1 (M425T +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2741096	NM_139343.3(BIN1):c.1675G>A (p.Asp559Asn)	BIN1 (D375N +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 3006048	NM_139343.3(BIN1):c.1675-2A>G	BIN1	Single nucleotide variant (splice acceptor variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 892715	NM_139343.3(BIN1):c.1675-7C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GConflicting classifications of pathogenicity
Select item 2789896	NM_139343.3(BIN1):c.1675-9G>A	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2959490	NM_139343.3(BIN1):c.1675-16G>A	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 1212491	NM_139343.3(BIN1):c.1674+192G>A	BIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 671711	NM_139343.3(BIN1):c.1674+143G>A	BIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 678147	NM_139343.3(BIN1):c.1674+56G>A	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2 +1 more	GBenign
Select item 1543477	NM_139343.3(BIN1):c.1674+20G>A	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GBenign
Select item 2144444	NM_139343.3(BIN1):c.1674+19C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2864636	NM_139343.3(BIN1):c.1674+13T>A	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2731487	NM_139343.3(BIN1):c.1674+7G>C	BIN1	Single nucleotide variant (intron variant)	BIN1-related condition +1 more	GLikely benign
Select item 1064185	NM_139343.3(BIN1):c.1674+3G>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 1398238	NM_139343.3(BIN1):c.1672C>A (p.Gln558Lys)	BIN1 (Q440K +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	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 2918342	NM_139343.3(BIN1):c.1663C>T (p.Pro555Ser)	BIN1 (P347S +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 1037947	NM_139343.3(BIN1):c.1635T>G (p.Asp545Glu)	BIN1 (D434E +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 792449	NM_139343.3(BIN1):c.1632T>G (p.Gly544=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 530869	NM_139343.3(BIN1):c.1629T>G (p.Ala543=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GConflicting classifications of pathogenicity
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 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 461707	NM_139343.3(BIN1):c.1611C>T (p.Asp537=)	BIN1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 755238	NM_139343.3(BIN1):c.1608A>G (p.Thr536=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 1470064	NM_139343.3(BIN1):c.1607C>A (p.Thr536Lys)	BIN1 (T449K +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 1407708	NM_139343.3(BIN1):c.1607C>T (p.Thr536Ile)	BIN1 (T367I +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2153856	NM_139343.3(BIN1):c.1601C>G (p.Thr534Ser)	BIN1 (T416S +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2730439	NM_139343.3(BIN1):c.1595C>A (p.Thr532Lys)	BIN1 (T393K +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
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 530866	NM_139343.3(BIN1):c.1588G>A (p.Asp530Asn)	BIN1 (D530N +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
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 2918746	NM_139343.3(BIN1):c.1583A>G (p.Gln528Arg)	BIN1 (Q453R +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 1388319	NM_139343.3(BIN1):c.1580C>T (p.Ala527Val)	BIN1 (A416V +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 288375	NM_139343.3(BIN1):c.1577A>G (p.Gln526Arg)	BIN1 (Q526R +15 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2063837	NM_139343.3(BIN1):c.1573-13G>A	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 515727	NM_139343.3(BIN1):c.1573-14C>T	BIN1	Single nucleotide variant (intron variant)	not specified +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 2053370	NM_139343.3(BIN1):c.1573-19C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 671710	NM_139343.3(BIN1):c.1573-29G>C	BIN1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212693	NM_139343.3(BIN1):c.1573-63C>G	BIN1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 678146	NM_139343.3(BIN1):c.1573-63C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2 +1 more	GBenign
Select item 678145	NM_139343.3(BIN1):c.1573-72C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2 +1 more	GBenign
Select item 678269	NM_139343.3(BIN1):c.1573-128T>A	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2 +1 more	GBenign
Select item 761199	NM_139343.3(BIN1):c.1560T>G (p.Gly520=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 1052494	NM_139343.3(BIN1):c.1558G>C (p.Gly520Arg)	BIN1 (G312R +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2146114	NM_139343.3(BIN1):c.1557A>C (p.Pro519=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign

<< First< Prev

Page of 8