ClinVar for MedGen (Select 340586) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244314	NC_000012.11:g.(?_57641889)_(57642001_?)del	STAC3	Deletion	Bailey-Bloch congenital myopathy	GPathogenic
Select item 3015215	NM_145064.3(STAC3):c.807-13C>T	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 3012991	NM_145064.3(STAC3):c.806+8G>T	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 3012622	NM_145064.3(STAC3):c.324G>A (p.Arg108=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2986548	NM_145064.3(STAC3):c.670+19C>T	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2961033	NM_145064.3(STAC3):c.433-19dup	STAC3	Duplication (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2959864	NM_145064.3(STAC3):c.468_469del (p.Tyr157fs)	STAC3 (Y157fs +1 more)	Microsatellite (frameshift variant +2 more)	Bailey-Bloch congenital myopathy	GPathogenic
Select item 2920419	NM_145064.3(STAC3):c.505+13T>C	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2918090	NM_145064.3(STAC3):c.541C>T (p.Leu181=)	STAC3	Single nucleotide variant (synonymous variant +2 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2911611	NM_145064.3(STAC3):c.505+20C>T	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2909507	NM_145064.3(STAC3):c.519C>T (p.Arg173=)	STAC3	Single nucleotide variant (synonymous variant +2 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2908864	NM_145064.3(STAC3):c.816_817del (p.Lys273fs)	STAC3 (K273fs +2 more)	Microsatellite (frameshift variant +1 more)	Bailey-Bloch congenital myopathy	GPathogenic
Select item 2905497	NM_145064.3(STAC3):c.66+10G>A	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2879043	NM_145064.3(STAC3):c.447T>C (p.His149=)	STAC3	Single nucleotide variant (synonymous variant +2 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2858621	NM_145064.3(STAC3):c.270C>T (p.His90=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2856431	NM_145064.3(STAC3):c.347T>A (p.Phe116Tyr)	STAC3 (F116Y +1 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 2855622	NM_145064.3(STAC3):c.721-3del	STAC3	Deletion (intron variant)	Bailey-Bloch congenital myopathy	GBenign
Select item 2825993	NM_145064.3(STAC3):c.720+19_720+20insAAGAATCCTTCCTCCCTTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGCAATAGAGTGACCCAACATCGCGAACAACAACCCCGTCCCGGAGAGAGATCGGTGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	STAC3	Insertion (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2811045	NM_145064.3(STAC3):c.969dup (p.Gly324fs)	STAC3 (G138fs +2 more)	Duplication (frameshift variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 2808064	NM_145064.3(STAC3):c.720+9C>A	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2802584	NM_145064.3(STAC3):c.432+17G>A	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2790170	NM_145064.3(STAC3):c.781C>T (p.Leu261=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2771036	NM_145064.3(STAC3):c.416G>C (p.Arg139Thr)	STAC3 (R100T +1 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 2766147	NM_145064.3(STAC3):c.66+8T>C	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2744024	NM_145064.3(STAC3):c.276C>T (p.Phe92=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2742731	NM_145064.3(STAC3):c.858+14C>A	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2742179	NM_145064.3(STAC3):c.297_301del (p.Pro100fs)	STAC3 (P100fs +1 more)	Deletion (frameshift variant +1 more)	Bailey-Bloch congenital myopathy	GPathogenic
Select item 2731838	NM_145064.3(STAC3):c.604-7C>T	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2712122	NM_145064.3(STAC3):c.997-5_997-3del	STAC3	Microsatellite (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2700919	NM_145064.3(STAC3):c.744G>A (p.Gln248=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2690161	NM_145064.3(STAC3):c.772T>C (p.Phe258Leu)	STAC3 (F219L +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 2421949	NM_145064.3(STAC3):c.334C>T (p.Leu112Phe)	STAC3 (L112F +1 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 2202282	NM_145064.3(STAC3):c.506-19T>C	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2199264	NM_145064.3(STAC3):c.720+18del	STAC3	Deletion (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2194294	NM_145064.3(STAC3):c.506-22_506-20del	STAC3	Microsatellite (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2185481	NM_145064.3(STAC3):c.395A>G (p.Gln132Arg)	STAC3 (Q132R +1 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 2180793	NM_145064.3(STAC3):c.505+15T>C	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2176045	NM_145064.3(STAC3):c.670G>A (p.Gly224Arg)	STAC3 (G185R +2 more)	Single nucleotide variant (missense variant)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 2154968	NM_145064.3(STAC3):c.170G>A (p.Gly57Asp)	STAC3 (G18D +1 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 2153911	NM_145064.3(STAC3):c.432+20C>G	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2147941	NM_145064.3(STAC3):c.66+11G>A	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2123516	NM_145064.3(STAC3):c.379A>G (p.Ile127Val)	STAC3 (I88V +1 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 2080308	NM_145064.3(STAC3):c.445C>T (p.His149Tyr)	STAC3 (H149Y +1 more)	Single nucleotide variant (missense variant +2 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 2074431	NM_145064.3(STAC3):c.670+2T>A	STAC3	Single nucleotide variant (splice donor variant)	Bailey-Bloch congenital myopathy	GLikely pathogenic
Select item 2063747	NM_145064.3(STAC3):c.859-20C>T	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2063592	NM_145064.3(STAC3):c.111A>G (p.Thr37=)	STAC3	Single nucleotide variant (5 prime UTR variant +2 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2058848	NM_145064.3(STAC3):c.1090A>T (p.Ile364Phe)	STAC3 (I178F +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy +1 more	GUncertain significance
Select item 2049857	NM_145064.3(STAC3):c.433-19C>G	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2049309	NM_145064.3(STAC3):c.449G>A (p.Arg150Gln)	STAC3 (R111Q +1 more)	Single nucleotide variant (missense variant +2 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 2038472	NM_145064.3(STAC3):c.293A>G (p.Lys98Arg)	STAC3 (K98R +1 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 2038290	NM_145064.3(STAC3):c.433-20C>G	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 2010288	NM_145064.3(STAC3):c.125T>C (p.Leu42Pro)	STAC3 (L42P +1 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 2008882	NM_145064.3(STAC3):c.329T>C (p.Ile110Thr)	STAC3 (I110T +1 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 1993129	NM_145064.3(STAC3):c.264G>A (p.Lys88=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1989573	NM_145064.3(STAC3):c.417A>G (p.Arg139=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 1970658	NM_145064.3(STAC3):c.506-7C>T	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1968747	NM_145064.3(STAC3):c.721-15C>T	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1967464	NM_145064.3(STAC3):c.1068T>C (p.Phe356=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1963724	NM_145064.3(STAC3):c.56G>T (p.Arg19Leu)	STAC3 (R19L)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 1952696	NM_145064.3(STAC3):c.834T>C (p.Asp278=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1944018	NM_145064.3(STAC3):c.530T>C (p.Val177Ala)	STAC3 (V138A +1 more)	Single nucleotide variant (missense variant +2 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 1940952	NM_145064.3(STAC3):c.805C>T (p.Pro269Ser)	STAC3 (P230S +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 1932807	NM_145064.3(STAC3):c.113A>G (p.Lys38Arg)	STAC3 (K38R)	Single nucleotide variant (5 prime UTR variant +2 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 1922761	NM_145064.3(STAC3):c.300A>G (p.Pro100=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1918037	NM_145064.3(STAC3):c.495C>T (p.Val165=)	STAC3	Single nucleotide variant (synonymous variant +2 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1715243	NM_145064.3(STAC3):c.392G>C (p.Cys131Ser)	STAC3 (C131S +1 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 1674679	NM_145064.3(STAC3):c.819G>A (p.Lys273=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1662522	NM_145064.3(STAC3):c.334+9T>C	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1657010	NM_145064.3(STAC3):c.506-15C>T	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1649543	NM_145064.3(STAC3):c.859-18C>G	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1649370	NM_145064.3(STAC3):c.807-16T>C	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1635701	NM_145064.3(STAC3):c.666G>A (p.Gln222=)	STAC3	Single nucleotide variant (synonymous variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1631401	NM_145064.3(STAC3):c.375C>T (p.Thr125=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	STAC3-related disorder +1 more	GLikely benign
Select item 1626190	NM_145064.3(STAC3):c.433-15C>T	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1623701	NM_145064.3(STAC3):c.66+19C>T	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1623544	NM_145064.3(STAC3):c.859-11_859-8dup	STAC3	Duplication (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1615275	NM_145064.3(STAC3):c.1029C>T (p.Gly343=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1583448	NM_145064.3(STAC3):c.334+14G>A	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1578772	NM_145064.3(STAC3):c.505+14A>G	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1578181	NM_145064.3(STAC3):c.1023G>A (p.Ala341=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1575683	NM_145064.3(STAC3):c.671-20G>A	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1574469	NM_145064.3(STAC3):c.335-9T>C	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1572766	NM_145064.3(STAC3):c.441T>C (p.Gly147=)	STAC3	Single nucleotide variant (synonymous variant +2 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1570342	NM_145064.3(STAC3):c.807-5C>A	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1566458	NM_145064.3(STAC3):c.843T>C (p.Asn281=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1564141	NM_145064.3(STAC3):c.273A>G (p.Lys91=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1562478	NM_145064.3(STAC3):c.894A>G (p.Pro298=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1551789	NM_145064.3(STAC3):c.807-12T>C	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1549321	NM_145064.3(STAC3):c.432+11T>C	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1521687	NM_145064.3(STAC3):c.652G>A (p.Glu218Lys)	STAC3 (E218K +2 more)	Single nucleotide variant (missense variant)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 1519238	NM_145064.3(STAC3):c.545G>A (p.Arg182His)	STAC3 (R182H +1 more)	Single nucleotide variant (missense variant +2 more)	Bailey-Bloch congenital myopathy +1 more	GUncertain significance
Select item 1516897	NM_145064.3(STAC3):c.996+3A>G	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 1516892	NM_145064.3(STAC3):c.24G>C (p.Glu8Asp)	STAC3 (E8D)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 1515119	NM_145064.3(STAC3):c.1073C>T (p.Thr358Ile)	STAC3 (T319I +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 1512941	NM_145064.3(STAC3):c.151G>C (p.Glu51Gln)	STAC3 (E12Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1504418	NM_145064.3(STAC3):c.622G>C (p.Glu208Gln)	STAC3 (E169Q +2 more)	Single nucleotide variant (missense variant)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 1501296	NM_145064.3(STAC3):c.419G>C (p.Cys140Ser)	STAC3 (C101S +1 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 1481810	NM_145064.3(STAC3):c.720+6A>G	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 1479778	NM_145064.3(STAC3):c.505+6T>G	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 1479141	NM_145064.3(STAC3):c.999C>G (p.Ile333Met)	STAC3 (I147M +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance

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