ClinVar for Gene (Select 274) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 3062651	GRCh37/hg19 2q12.2-21.2(chr2:106755586-134302739)x1	ACOXL, ACTR3 +121 more	Copy number loss	not specified	GPathogenic
Select item 3062624	GRCh37/hg19 2q14.3(chr2:125361063-129616153)x3	AMMECR1L, BIN1 +16 more	Copy number gain	not specified	GUncertain significance
Select item 3057118	NM_139343.3(BIN1):c.1132-22TGC[5]	BIN1	Microsatellite (intron variant)	BIN1-related disorder	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 3037715	NM_139343.3(BIN1):c.85-5134A>C	BIN1 (M2L)	Single nucleotide variant (missense variant +1 more)	BIN1-related disorder	GBenign
Select item 3019026	NM_139343.3(BIN1):c.612+19C>G	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
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 3013018	NM_139343.3(BIN1):c.775-19C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 3010027	NM_139343.3(BIN1):c.1132-5C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 3009371	NM_139343.3(BIN1):c.1077C>T (p.Leu359=)	BIN1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, centronuclear, 2	GLikely benign
Select item 3007603	NM_139343.3(BIN1):c.165+17C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
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 3001355	NM_139343.3(BIN1):c.213C>G (p.Ser71=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	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 2993325	NM_139343.3(BIN1):c.727C>G (p.Gln243Glu)	BIN1 (Q212E +3 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2983738	NM_139343.3(BIN1):c.14_15delinsAG (p.Gly5Glu)	BIN1 (G5E)	Indel (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2981025	NM_139343.3(BIN1):c.779A>T (p.Asn260Ile)	BIN1 (N205I +3 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2979930	NM_139343.3(BIN1):c.857+4C>G	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2978776	NM_139343.3(BIN1):c.840G>A (p.Thr280=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2975892	NM_139343.3(BIN1):c.954G>A (p.Pro318=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2969899	NM_139343.3(BIN1):c.769A>G (p.Ser257Gly)	BIN1 (S202G +3 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2966005	NM_139343.3(BIN1):c.857+8C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2960321	NM_139343.3(BIN1):c.612+14C>T	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 2920535	NM_139343.3(BIN1):c.519+16G>C	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	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 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 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 2913908	NM_139343.3(BIN1):c.737C>T (p.Ala246Val)	BIN1 (A215V +3 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 2911955	NM_139343.3(BIN1):c.520-4C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2910658	NM_139343.3(BIN1):c.380A>G (p.Asp127Gly)	BIN1 (D100G +2 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2906988	NM_139343.3(BIN1):c.958G>A (p.Gly320Ser)	BIN1 (G320S +4 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2906434	NM_139343.3(BIN1):c.1372-17C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2906293	NM_139343.3(BIN1):c.1382C>T (p.Ala461Val)	BIN1 (A343V +12 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2900826	NM_139343.3(BIN1):c.284C>T (p.Pro95Leu)	BIN1 (P68L +2 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2893220	NM_139343.3(BIN1):c.1121C>T (p.Thr374Ile)	BIN1 (T358I +3 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2888665	NM_139343.3(BIN1):c.1213G>A (p.Val405Met)	BIN1 (V374M +3 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2886882	NM_139343.3(BIN1):c.165+20G>A	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2886340	NM_139343.3(BIN1):c.84+13G>A	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2879789	NM_139343.3(BIN1):c.1228C>T (p.Pro410Ser)	BIN1 (P367S +3 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2878785	NM_139343.3(BIN1):c.252G>A (p.Glu84=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2873973	NM_139343.3(BIN1):c.1510G>A (p.Gly504Ser)	BIN1 (G296S +15 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2867661	NM_139343.3(BIN1):c.613-15C>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 2862224	NM_139343.3(BIN1):c.1317G>A (p.Glu439=)	BIN1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, centronuclear, 2	GLikely benign
Select item 2860454	NM_139343.3(BIN1):c.84+4286_84+4287delinsAT	BIN1	Indel (intron variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2851866	NM_139343.3(BIN1):c.1052A>C (p.Lys351Thr)	BIN1 (K320T +3 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2836459	NM_139343.3(BIN1):c.992C>G (p.Ser331Cys)	BIN1 (S300C +4 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2832692	NM_139343.3(BIN1):c.156C>T (p.Asn52=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2828499	NM_139343.3(BIN1):c.229G>T (p.Glu77Ter)	BIN1 (E50* +2 more)	Single nucleotide variant (nonsense)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2824948	NM_139343.3(BIN1):c.1002+14C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2824771	NM_139343.3(BIN1):c.1371+13C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2822538	NM_139343.3(BIN1):c.1372-15G>A	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2816310	NM_139343.3(BIN1):c.1239+17A>G	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2812066	NM_139343.3(BIN1):c.316-15T>C	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2811376	NM_139343.3(BIN1):c.1137G>T (p.Glu379Asp)	BIN1 (E348D +3 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2793459	NM_139343.3(BIN1):c.166-20C>A	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2793410	NM_139343.3(BIN1):c.552G>C (p.Gln184His)	BIN1 (Q184H +1 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2790683	NM_139343.3(BIN1):c.84+16C>A	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2789896	NM_139343.3(BIN1):c.1675-9G>A	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2789066	NM_139343.3(BIN1):c.1494C>T (p.Phe498=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2788932	NM_139343.3(BIN1):c.444G>T (p.Val148=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2788060	NM_139343.3(BIN1):c.309C>A (p.Ile103=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2784064	NM_139343.3(BIN1):c.612+18C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2779298	NM_139343.3(BIN1):c.613-7C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
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 2766522	NM_139343.3(BIN1):c.11T>C (p.Met4Thr)	BIN1 (M4T)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2762536	NM_139343.3(BIN1):c.1335C>T (p.Ser445=)	BIN1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, centronuclear, 2	GLikely benign
Select item 2756813	NM_139343.3(BIN1):c.506C>A (p.Ala169Asp)	BIN1 (A145D +2 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2752034	NM_139343.3(BIN1):c.316-20C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2742198	NM_139343.3(BIN1):c.1159C>G (p.Gln387Glu)	BIN1 (Q344E +3 more)	Single nucleotide variant (missense variant +1 more)	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 2738769	NM_139343.3(BIN1):c.160C>G (p.Gln54Glu)	BIN1 (Q27E +2 more)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2738768	NM_139343.3(BIN1):c.939C>T (p.Asn313=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2736525	NM_139343.3(BIN1):c.504A>G (p.Glu168=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2735944	NM_139343.3(BIN1):c.1218G>A (p.Lys406=)	BIN1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, centronuclear, 2	GLikely benign
Select item 2734263	NM_139343.3(BIN1):c.70C>T (p.Arg24Cys)	BIN1 (R24C)	Single nucleotide variant (missense variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2732018	NM_139343.3(BIN1):c.1239+13C>T	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)	Myopathy, centronuclear, 2 +1 more	GLikely benign
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 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 2721235	NM_139343.3(BIN1):c.166-10C>T	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
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 2717950	NM_139343.3(BIN1):c.1342A>C (p.Ser448Arg)	BIN1 (S373R +6 more)	Single nucleotide variant (missense variant +1 more)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2716477	NM_139343.3(BIN1):c.699-12G>A	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2715622	NM_139343.3(BIN1):c.1132-12G>C	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2712509	NM_139343.3(BIN1):c.1206G>A (p.Thr402=)	BIN1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, centronuclear, 2	GLikely benign
Select item 2711784	NM_139343.3(BIN1):c.857+5G>A	BIN1	Single nucleotide variant (intron variant)	Myopathy, centronuclear, 2	GUncertain significance
Select item 2709989	NM_139343.3(BIN1):c.1248A>C (p.Pro416=)	BIN1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, centronuclear, 2	GLikely benign
Select item 2696990	NM_139343.3(BIN1):c.759C>T (p.His253=)	BIN1	Single nucleotide variant (synonymous variant)	Myopathy, centronuclear, 2	GLikely benign
Select item 2695027	NM_139343.3(BIN1):c.1413G>A (p.Ala471=)	BIN1	Single nucleotide variant (synonymous variant +1 more)	Myopathy, centronuclear, 2	GLikely benign
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 2684675	GRCh37/hg19 2q14.3(chr2:124806439-128906413)x1	AMMECR1L, BIN1 +15 more	Copy number loss	not provided	GUncertain significance
Select item 2661977	NM_139343.3(BIN1):c.857+1473A>G	BIN1	Single nucleotide variant (intron variant +1 more)	not provided	GUncertain significance
Select item 2651326	NM_139343.3(BIN1):c.543C>T (p.Ala181=)	BIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2571083	NM_139343.3(BIN1):c.1017A>C (p.Pro339=)	BIN1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2504992	NM_139343.3(BIN1):c.1263+2T>C	BIN1	Single nucleotide variant (splice donor variant +1 more)	not provided	GUncertain significance

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