ClinVar for Gene (Select 9531) - ClinVar - NCBI

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

Links from Gene

Items: 1 to 100 of 1147

<< First< Prev

Page of 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244902	NC_000010.10:g.(?_121429343)_(121432188_?)dup	BAG3	Duplication	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3244901	NC_000010.10:g.(?_121411188)_(121432188_?)dup	BAG3	Duplication	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3244900	NC_000010.10:g.(?_121435956)_(121436794_?)dup	BAG3	Duplication	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3244899	NC_000010.10:g.(?_121411188)_(121436794_?)dup	BAG3	Duplication	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3244898	NC_000010.10:g.(?_121429343)_(121436794_?)del	BAG3	Deletion	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 3236259	NM_004281.4(BAG3):c.436C>T (p.Gln146Ter)	BAG3 (Q146*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH	GLikely pathogenic
Select item 3223778	NM_004281.4(BAG3):c.798C>T (p.Phe266=)	BAG3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3223777	NM_004281.4(BAG3):c.662C>T (p.Ala221Val)	BAG3 (A221V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3223776	NM_004281.4(BAG3):c.586C>G (p.Leu196Val)	BAG3 (L196V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3223775	NM_004281.4(BAG3):c.384A>C (p.Ala128=)	BAG3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3223774	NM_004281.4(BAG3):c.339C>A (p.Val113=)	BAG3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3223773	NM_004281.4(BAG3):c.284C>G (p.Pro95Arg)	BAG3 (P95R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3223772	NM_004281.4(BAG3):c.200A>C (p.Asn67Thr)	BAG3 (N67T)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3223770	NM_004281.4(BAG3):c.1579dup (p.Met527fs)	BAG3 (M527fs)	Duplication (frameshift variant)	Cardiovascular phenotype	GUncertain significance
Select item 3223769	NM_004281.4(BAG3):c.144G>C (p.Thr48=)	BAG3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3223768	NM_004281.4(BAG3):c.1440_1450del (p.Arg480fs)	BAG3 (R480fs)	Deletion (frameshift variant)	Cardiovascular phenotype	GLikely pathogenic
Select item 3223766	NM_004281.4(BAG3):c.1382A>G (p.Glu461Gly)	BAG3 (E461G)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3223765	NM_004281.4(BAG3):c.1117T>C (p.Cys373Arg)	BAG3 (C373R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3223764	NM_004281.4(BAG3):c.1002T>A (p.Pro334=)	BAG3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype	GLikely benign
Select item 3132804	NM_004281.4(BAG3):c.366C>A (p.Phe122Leu)	BAG3 (F122L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063162	GRCh37/hg19 10q25.1-26.13(chr10:107129993-123817654)x3	ABLIM1, ACSL5 +70 more	Copy number gain	not specified	GLikely pathogenic
Select item 3030219	NM_004281.4(BAG3):c.1327G>A (p.Glu443Lys)	BAG3 (E443K)	Single nucleotide variant (missense variant)	BAG3-related disorder	GUncertain significance
Select item 3025751	NM_004281.4(BAG3):c.1564C>T (p.Gln522Ter)	BAG3 (Q522*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2954137	NM_004281.4(BAG3):c.1442G>C (p.Arg481Thr)	BAG3 (R481T)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2953904	NM_004281.4(BAG3):c.280_284dup (p.Ile96fs)	BAG3 (I96fs)	Duplication (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 2953587	NM_004281.4(BAG3):c.181-20T>C	BAG3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 2953546	NM_004281.4(BAG3):c.1379A>G (p.Lys460Arg)	BAG3 (K460R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2953214	NM_004281.4(BAG3):c.33G>A (p.Gln11=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 2952787	NM_004281.4(BAG3):c.1683C>T (p.Asn561=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 2952776	NM_004281.4(BAG3):c.853A>G (p.Thr285Ala)	BAG3 (T285A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2952705	NM_004281.4(BAG3):c.200A>T (p.Asn67Ile)	BAG3 (N67I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2951921	NM_004281.4(BAG3):c.27G>C (p.Met9Ile)	BAG3 (M9I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2951906	NM_004281.4(BAG3):c.909+11T>A	BAG3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 2951832	NM_004281.4(BAG3):c.846G>A (p.Arg282=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 2951805	NM_004281.4(BAG3):c.478G>A (p.Ala160Thr)	BAG3 (A160T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2951087	NM_004281.4(BAG3):c.792C>T (p.Ser264=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +2 more	GLikely benign
Select item 2951025	NM_004281.4(BAG3):c.133C>G (p.Arg45Gly)	BAG3 (R45G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2950929	NM_004281.4(BAG3):c.874C>T (p.Pro292Ser)	BAG3 (P292S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2950163	NM_004281.4(BAG3):c.1248C>G (p.Pro416=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 2950034	NM_004281.4(BAG3):c.589G>A (p.Gly197Ser)	BAG3 (G197S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2949670	NM_004281.4(BAG3):c.666G>T (p.Gln222His)	BAG3 (Q222H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2949573	NM_004281.4(BAG3):c.1684C>A (p.Pro562Thr)	BAG3 (P562T)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2948443	NM_004281.4(BAG3):c.631A>T (p.Ile211Leu)	BAG3 (I211L)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2948391	NM_004281.4(BAG3):c.36_40del (p.Ala13fs)	BAG3 (A13fs)	Deletion (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 2948085	NM_004281.4(BAG3):c.1211A>G (p.Glu404Gly)	BAG3 (E404G)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 2947889	NM_004281.4(BAG3):c.250C>G (p.Pro84Ala)	BAG3 (P84A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2947691	NM_004281.4(BAG3):c.1494C>T (p.Ala498=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 2947151	NM_004281.4(BAG3):c.1539C>T (p.Ser513=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 2946905	NM_004281.4(BAG3):c.895G>T (p.Val299Phe)	BAG3 (V299F)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2946431	NM_004281.4(BAG3):c.592A>T (p.Ser198Cys)	BAG3 (S198C)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2946237	NM_004281.4(BAG3):c.1591G>T (p.Ala531Ser)	BAG3 (A531S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2946157	NM_004281.4(BAG3):c.346C>T (p.Gln116Ter)	BAG3 (Q116*)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 2946145	NM_004281.4(BAG3):c.1646_1652del (p.Thr549fs)	BAG3 (T549fs)	Deletion (frameshift variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2945722	NM_004281.4(BAG3):c.1481T>C (p.Leu494Pro)	BAG3 (L494P)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2945685	NM_004281.4(BAG3):c.1445dup (p.Asp482fs)	BAG3 (D482fs)	Duplication (frameshift variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2945418	NM_004281.4(BAG3):c.1148T>C (p.Val383Ala)	BAG3 (V383A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2945378	NM_004281.4(BAG3):c.269G>A (p.Arg90Gln)	BAG3 (R90Q)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2945336	NM_004281.4(BAG3):c.1413G>A (p.Glu471=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 2945148	NM_004281.4(BAG3):c.91G>C (p.Asp31His)	BAG3 (D31H)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2945037	NM_004281.4(BAG3):c.851G>T (p.Ser284Ile)	BAG3 (S284I)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2944599	NM_004281.4(BAG3):c.1573A>C (p.Met525Leu)	BAG3 (M525L)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2944488	NM_004281.4(BAG3):c.1639A>G (p.Thr547Ala)	BAG3 (T547A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2944420	NM_004281.4(BAG3):c.1471T>G (p.Leu491Val)	BAG3 (L491V)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2944403	NM_004281.4(BAG3):c.1653G>A (p.Gln551=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 2944263	NM_004281.4(BAG3):c.565_588del (p.Pro189_Leu196del)	BAG3	Deletion (inframe_deletion)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2944199	NM_004281.4(BAG3):c.702A>G (p.Pro234=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 2943550	NM_004281.4(BAG3):c.448C>T (p.Gln150Ter)	BAG3 (Q150*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 2942995	NM_004281.4(BAG3):c.1246C>T (p.Pro416Ser)	BAG3 (P416S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2942943	NM_004281.4(BAG3):c.1504C>T (p.Pro502Ser)	BAG3 (P502S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2942864	NM_004281.4(BAG3):c.312G>A (p.Glu104=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 2942756	NM_004281.4(BAG3):c.1252A>G (p.Lys418Glu)	BAG3 (K418E)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2942604	NM_004281.4(BAG3):c.1067dup (p.Pro357fs)	BAG3 (P357fs)	Duplication (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 2942522	NM_004281.4(BAG3):c.359A>G (p.Gln120Arg)	BAG3 (Q120R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2942074	NM_004281.4(BAG3):c.147G>A (p.Trp49Ter)	BAG3 (W49*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 2942016	NM_004281.4(BAG3):c.910-16del	BAG3	Deletion (intron variant)	Dilated cardiomyopathy 1HH +1 more	GBenign
Select item 2941671	NM_004281.4(BAG3):c.1173T>G (p.Ala391=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 2941615	NM_004281.4(BAG3):c.1054T>A (p.Ser352Thr)	BAG3 (S352T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2941374	NM_004281.4(BAG3):c.1009dup (p.Ile337fs)	BAG3 (I337fs)	Duplication (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 2941327	NM_004281.4(BAG3):c.1489A>C (p.Lys497Gln)	BAG3 (K497Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2940708	NM_004281.4(BAG3):c.747G>A (p.Lys249=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 2940380	NM_004281.4(BAG3):c.916A>G (p.Met306Val)	BAG3 (M306V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2940266	NM_004281.4(BAG3):c.900C>T (p.Asp300=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 2940254	NM_004281.4(BAG3):c.536G>A (p.Cys179Tyr)	BAG3 (C179Y)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2940203	NM_004281.4(BAG3):c.1549G>T (p.Ala517Ser)	BAG3 (A517S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2939178	NM_004281.4(BAG3):c.283C>T (p.Pro95Ser)	BAG3 (P95S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2939166	NM_004281.4(BAG3):c.1507G>A (p.Gly503Ser)	BAG3 (G503S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2939132	NM_004281.4(BAG3):c.885G>A (p.Val295=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 2938989	NM_004281.4(BAG3):c.21G>A (p.Ser7=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 2938103	NM_004281.4(BAG3):c.803C>A (p.Ser268Ter)	BAG3 (S268*)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 2937733	NM_004281.4(BAG3):c.729C>G (p.His243Gln)	BAG3 (H243Q)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2936780	NM_004281.4(BAG3):c.1655_1692del (p.Pro552fs)	BAG3 (P552fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2936392	NM_004281.4(BAG3):c.590G>A (p.Gly197Asp)	BAG3 (G197D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2936079	NM_004281.4(BAG3):c.170A>G (p.Glu57Gly)	BAG3 (E57G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2935818	NM_004281.4(BAG3):c.180+11C>T	BAG3	Single nucleotide variant (intron variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 2935374	NM_004281.4(BAG3):c.1258C>G (p.Pro420Ala)	BAG3 (P420A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2934951	NM_004281.4(BAG3):c.1627G>C (p.Glu543Gln)	BAG3 (E543Q)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2934778	NM_004281.4(BAG3):c.868C>G (p.Pro290Ala)	BAG3 (P290A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2934463	NM_004281.4(BAG3):c.631A>G (p.Ile211Val)	BAG3 (I211V)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2934460	NM_004281.4(BAG3):c.804A>T (p.Ser268=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign

<< First< Prev

Page of 12