28423[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 262568	NM_145064.3(STAC3):c.*2C>T	STAC3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GBenign
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 262571	NM_145064.3(STAC3):c.1086G>A (p.Glu362=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign/Likely benign
Select item 2619952	NM_145064.3(STAC3):c.1082T>C (p.Leu361Pro)	STAC3 (L175P +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2241169	NM_145064.3(STAC3):c.1076A>G (p.Asp359Gly)	STAC3 (D359G +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 568460	NM_145064.3(STAC3):c.1052G>T (p.Arg351Leu)	STAC3 (R351L +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy +1 more	GUncertain significance
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 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 262570	NM_145064.3(STAC3):c.1023G>C (p.Ala341=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy +2 more	GBenign/Likely benign
Select item 851418	NM_145064.3(STAC3):c.1022C>T (p.Ala341Val)	STAC3 (A341V +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy +1 more	GUncertain significance
Select item 1108618	NM_145064.3(STAC3):c.1014A>G (p.Gly338=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1472502	NM_145064.3(STAC3):c.1008G>C (p.Gln336His)	STAC3 (Q150H +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 2602297	NM_145064.3(STAC3):c.1000G>C (p.Val334Leu)	STAC3 (V334L +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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
Select item 691283	NM_145064.3(STAC3):c.997-1G>T	STAC3	Single nucleotide variant (splice acceptor variant)	Bailey-Bloch congenital myopathy	GPathogenic
Select item 639920	NM_145064.3(STAC3):c.997-1G>C	STAC3	Single nucleotide variant (splice acceptor variant)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 2712122	NM_145064.3(STAC3):c.997-5_997-3del	STAC3	Microsatellite (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1038301	NM_145064.3(STAC3):c.997-6T>G	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1149746	NM_145064.3(STAC3):c.997-9A>T	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1222559	NM_145064.3(STAC3):c.997-24A>G	STAC3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301206	NM_145064.3(STAC3):c.997-60_997-58del	STAC3	Microsatellite (intron variant)	not provided	GLikely benign
Select item 262578	NM_145064.3(STAC3):c.996+17A>T	STAC3	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 947915	NM_145064.3(STAC3):c.996+4G>A	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	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 1010716	NM_145064.3(STAC3):c.996+1G>A	STAC3	Single nucleotide variant (splice donor variant)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 534097	NM_145064.3(STAC3):c.987G>T (p.Lys329Asn)	STAC3 (K329N +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 851882	NM_145064.3(STAC3):c.978C>G (p.Ile326Met)	STAC3 (I140M +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
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 1396308	NM_145064.3(STAC3):c.964G>T (p.Glu322Ter)	STAC3 (E136* +2 more)	Single nucleotide variant (nonsense +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 838844	NM_145064.3(STAC3):c.963C>T (p.Arg321=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 952210	NM_145064.3(STAC3):c.962G>A (p.Arg321His)	STAC3 (R321H +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 1468230	NM_145064.3(STAC3):c.954G>A (p.Val318=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 661534	NM_145064.3(STAC3):c.941C>T (p.Thr314Met)	STAC3 (T128M +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 741029	NM_145064.3(STAC3):c.939G>A (p.Val313=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 846331	NM_145064.3(STAC3):c.935G>A (p.Arg312His)	STAC3 (R126H +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 465661	NM_145064.3(STAC3):c.932A>G (p.His311Arg)	STAC3 (H311R +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 1352442	NM_145064.3(STAC3):c.904A>T (p.Ile302Phe)	STAC3 (I302F +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 647235	NM_145064.3(STAC3):c.895A>G (p.Asn299Asp)	STAC3 (N260D +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
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 1395579	NM_145064.3(STAC3):c.893C>G (p.Pro298Arg)	STAC3 (P298R +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 534101	NM_145064.3(STAC3):c.883T>C (p.Phe295Leu)	STAC3 (F295L +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 753557	NM_145064.3(STAC3):c.879C>A (p.Val293=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 705061	NM_145064.3(STAC3):c.870G>A (p.Gly290=)	STAC3	Single nucleotide variant (synonymous variant +1 more)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 425007	NM_145064.3(STAC3):c.862A>T (p.Lys288Ter)	STAC3 (K288* +2 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 1117227	NM_145064.3(STAC3):c.859-4C>A	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 1649543	NM_145064.3(STAC3):c.859-18C>G	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
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 2742731	NM_145064.3(STAC3):c.858+14C>A	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 88744	NM_145064.3(STAC3):c.851G>C (p.Trp284Ser)	STAC3 (W284S +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy +1 more	GPathogenic/Likely pathogenic
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 262577	NM_145064.3(STAC3):c.842A>G (p.Asn281Ser)	STAC3 (N281S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GBenign
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 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 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 1570342	NM_145064.3(STAC3):c.807-5C>A	STAC3	Single nucleotide variant (intron variant)	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 3015215	NM_145064.3(STAC3):c.807-13C>T	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 3012991	NM_145064.3(STAC3):c.806+8G>T	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 578220	NM_145064.3(STAC3):c.806C>T (p.Pro269Leu)	STAC3 (P269L +2 more)	Single nucleotide variant (missense variant +1 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 1472313	NM_145064.3(STAC3):c.799G>C (p.Asp267His)	STAC3 (D267H +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
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 1398920	NM_145064.3(STAC3):c.774C>G (p.Phe258Leu)	STAC3 (F219L +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
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 1463265	NM_145064.3(STAC3):c.770G>T (p.Arg257Leu)	STAC3 (R218L +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 559850	NM_145064.3(STAC3):c.763_766del (p.Leu255fs)	STAC3 (L255fs +2 more)	Microsatellite (frameshift variant +1 more)	Bailey-Bloch congenital myopathy	GPathogenic
Select item 954368	NM_145064.3(STAC3):c.746C>T (p.Ser249Phe)	STAC3 (S249F +2 more)	Single nucleotide variant (missense variant +1 more)	Bailey-Bloch congenital myopathy	GUncertain significance
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 577652	NM_145064.3(STAC3):c.739C>T (p.Gln247Ter)	STAC3 (Q247* +2 more)	Single nucleotide variant (nonsense +1 more)	Bailey-Bloch congenital myopathy	GPathogenic
Select item 2533113	NM_145064.3(STAC3):c.731C>G (p.Pro244Arg)	STAC3 (P205R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2855622	NM_145064.3(STAC3):c.721-3del	STAC3	Deletion (intron variant)	Bailey-Bloch congenital myopathy	GBenign
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 2430742	NM_145064.3(STAC3):c.720+44A>G	STAC3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2825993	NM_145064.3(STAC3):c.720+19_720+20insAAGAATCCTTCCTCCCTTGAGGGGCGCCTCTGCCCGGCCGCCCCTACTGGCAATAGAGTGACCCAACATCGCGAACAACAACCCCGTCCCGGAGAGAGATCGGTGGGNNNNNNNNNNAAAAAAAAAAAAAAAAAAAA	STAC3	Insertion (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 2808064	NM_145064.3(STAC3):c.720+9C>A	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign
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 1073206	NM_145064.3(STAC3):c.694del (p.Ala232fs)	STAC3 (A193fs +2 more)	Deletion (frameshift variant +1 more)	Bailey-Bloch congenital myopathy	GPathogenic
Select item 854372	NM_145064.3(STAC3):c.671-10C>G	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GUncertain significance
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 1300778	NM_145064.3(STAC3):c.670+33G>A	STAC3	Single nucleotide variant (intron variant)	not provided	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 1059868	NM_145064.3(STAC3):c.670+3del	STAC3	Deletion (intron variant)	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 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 1635701	NM_145064.3(STAC3):c.666G>A (p.Gln222=)	STAC3	Single nucleotide variant (synonymous variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 757463	NM_145064.3(STAC3):c.663C>T (p.Pro221=)	STAC3	Single nucleotide variant (synonymous variant)	Bailey-Bloch congenital myopathy	GLikely benign
Select item 1026763	NM_145064.3(STAC3):c.662C>A (p.Pro221His)	STAC3 (P182H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 849720	NM_145064.3(STAC3):c.636G>C (p.Glu212Asp)	STAC3 (E212D +2 more)	Single nucleotide variant (missense variant)	Bailey-Bloch congenital myopathy	GUncertain significance
Select item 1447372	NM_145064.3(STAC3):c.630G>T (p.Glu210Asp)	STAC3 (E171D +2 more)	Single nucleotide variant (missense variant)	Bailey-Bloch congenital myopathy	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 2731838	NM_145064.3(STAC3):c.604-7C>T	STAC3	Single nucleotide variant (intron variant)	Bailey-Bloch congenital myopathy	GLikely benign

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