C3151293[trait identifier] AND "Labcorp Genetics (formerly Invitae), L - ClinVar - NCBI

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

Search results

Items: 1 to 100 of 913

<< First< Prev

Page of 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 417519	NC_000010.10:g.(?_121410882)_(121429689_?)dup	BAG3	Duplication	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 539169	NC_000010.10:g.(?_121411168)_(121436814_?)dup	BAG3	Duplication	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 1953036	NM_004281.4(BAG3):c.1A>C (p.Met1Leu)	BAG3 (M1L)	Single nucleotide variant (missense variant +1 more)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 940210	NM_004281.4(BAG3):c.2T>G (p.Met1Arg)	BAG3 (M1R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1390809	NM_004281.4(BAG3):c.5G>A (p.Ser2Asn)	BAG3 (S2N)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +2 more	GUncertain significance
Select item 2142517	NM_004281.4(BAG3):c.7G>A (p.Ala3Thr)	BAG3 (A3T)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 373252	NM_004281.4(BAG3):c.13A>G (p.Thr5Ala)	BAG3 (T5A)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +3 more	GConflicting classifications of pathogenicity
Select item 1588999	NM_004281.4(BAG3):c.15C>G (p.Thr5=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 2925509	NM_004281.4(BAG3):c.18C>G (p.His6Gln)	BAG3 (H6Q)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2086877	NM_004281.4(BAG3):c.20C>T (p.Ser7Leu)	BAG3 (S7L)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
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 1382933	NM_004281.4(BAG3):c.22C>T (p.Pro8Ser)	BAG3 (P8S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 136495	NM_004281.4(BAG3):c.25A>G (p.Met9Val)	BAG3 (M9V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +4 more	GBenign/Likely benign
Select item 2951921	NM_004281.4(BAG3):c.27G>C (p.Met9Ile)	BAG3 (M9I)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 1409128	NM_004281.4(BAG3):c.28A>G (p.Met10Val)	BAG3 (M10V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +2 more	GConflicting classifications of pathogenicity
Select item 1441462	NM_004281.4(BAG3):c.30G>T (p.Met10Ile)	BAG3 (M10I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 965510	NM_004281.4(BAG3):c.30G>A (p.Met10Ile)	BAG3 (M10I)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2923442	NM_004281.4(BAG3):c.31C>A (p.Gln11Lys)	BAG3 (Q11K)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 1424392	NM_004281.4(BAG3):c.32A>T (p.Gln11Leu)	BAG3 (Q11L)	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)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 2948391	NM_004281.4(BAG3):c.36_40del (p.Ala13fs)	BAG3 (A13fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 949690	NM_004281.4(BAG3):c.34G>A (p.Val12Met)	BAG3 (V12M)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1452208	NM_004281.4(BAG3):c.38_39dup (p.Ser14fs)	BAG3 (S14fs)	Duplication (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 1102088	NM_004281.4(BAG3):c.36G>A (p.Val12=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 2929558	NM_004281.4(BAG3):c.37G>C (p.Ala13Pro)	BAG3 (A13P)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2932478	NM_004281.4(BAG3):c.38C>T (p.Ala13Val)	BAG3 (A13V)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 1385311	NM_004281.4(BAG3):c.41C>T (p.Ser14Phe)	BAG3 (S14F)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 640933	NM_004281.4(BAG3):c.46A>G (p.Asn16Asp)	BAG3 (N16D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 162767	NM_004281.4(BAG3):c.49G>C (p.Gly17Arg)	BAG3 (G17R)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1389481	NM_004281.4(BAG3):c.50G>C (p.Gly17Ala)	BAG3 (G17A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 1642248	NM_004281.4(BAG3):c.54C>T (p.Asp18=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 222509	NM_004281.4(BAG3):c.55C>T (p.Arg19Cys)	BAG3 (R19C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +2 more	GUncertain significance
Select item 943879	NM_004281.4(BAG3):c.58G>A (p.Asp20Asn)	BAG3 (D20N)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2193034	NM_004281.4(BAG3):c.61C>G (p.Pro21Ala)	BAG3 (P21A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 1432332	NM_004281.4(BAG3):c.62C>G (p.Pro21Arg)	BAG3 (P21R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 966196	NM_004281.4(BAG3):c.72dup (p.Gly25fs)	BAG3 (G25fs)	Duplication (frameshift variant)	Myofibrillar myopathy 6 +3 more	GPathogenic/Likely pathogenic
Select item 279697	NM_004281.4(BAG3):c.67C>T (p.Pro23Ser)	BAG3 (P23S)	Single nucleotide variant (missense variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 162769	NM_004281.4(BAG3):c.72del (p.Gly25fs)	BAG3 (G25fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH +2 more	GPathogenic/Likely pathogenic
Select item 999488	NM_004281.4(BAG3):c.68C>T (p.Pro23Leu)	BAG3 (P23L)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2071275	NM_004281.4(BAG3):c.69C>G (p.Pro23=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 1059911	NM_004281.4(BAG3):c.70C>T (p.Pro24Ser)	BAG3 (P24S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 1497740	NM_004281.4(BAG3):c.71C>G (p.Pro24Arg)	BAG3 (P24R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2933293	NM_004281.4(BAG3):c.72C>G (p.Pro24=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 1345781	NM_004281.4(BAG3):c.72C>A (p.Pro24=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 1350759	NM_004281.4(BAG3):c.76T>G (p.Trp26Gly)	BAG3 (W26G)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 505229	NM_004281.4(BAG3):c.77G>A (p.Trp26Ter)	BAG3 (W26*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH +4 more	GPathogenic/Likely pathogenic
Select item 2928803	NM_004281.4(BAG3):c.84C>G (p.Ile28Met)	BAG3 (I28M)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 851274	NM_004281.4(BAG3):c.88A>G (p.Ile30Val)	BAG3 (I30V)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 2945148	NM_004281.4(BAG3):c.91G>C (p.Asp31His)	BAG3 (D31H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2587229	NM_004281.4(BAG3):c.95C>G (p.Pro32Arg)	BAG3 (P32R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 2007830	NM_004281.4(BAG3):c.96_97del (p.Gln33fs)	BAG3 (Q33fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 1985573	NM_004281.4(BAG3):c.95C>T (p.Pro32Leu)	BAG3 (P32L)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GUncertain significance
Select item 1145407	NM_004281.4(BAG3):c.96G>A (p.Pro32=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 377548	NM_004281.4(BAG3):c.96G>T (p.Pro32=)	BAG3	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 2107190	NM_004281.4(BAG3):c.99G>A (p.Gln33=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 1481141	NM_004281.4(BAG3):c.99G>C (p.Gln33His)	BAG3 (Q33H)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 1437440	NM_004281.4(BAG3):c.101C>T (p.Thr34Ile)	BAG3 (T34I)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 1161908	NM_004281.4(BAG3):c.102C>G (p.Thr34=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 1462897	NM_004281.4(BAG3):c.103G>A (p.Gly35Ser)	BAG3 (G35S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 1388942	NM_004281.4(BAG3):c.103G>T (p.Gly35Cys)	BAG3 (G35C)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +2 more	GUncertain significance
Select item 2118726	NM_004281.4(BAG3):c.104G>A (p.Gly35Asp)	BAG3 (G35D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 949224	NM_004281.4(BAG3):c.108G>A (p.Trp36Ter)	BAG3 (W36*)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 6 +2 more	GPathogenic/Likely pathogenic
Select item 841061	NM_004281.4(BAG3):c.109C>T (p.Pro37Ser)	BAG3 (P37S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1160800	NM_004281.4(BAG3):c.111C>G (p.Pro37=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 424122	NM_004281.4(BAG3):c.112TTC[1] (p.Phe39del)	BAG3 (F39del)	Microsatellite (inframe_deletion)	Myofibrillar myopathy 6 +2 more	GUncertain significance
Select item 44775	NM_004281.4(BAG3):c.111C>T (p.Pro37=)	BAG3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +3 more	GLikely benign
Select item 1998551	NM_004281.4(BAG3):c.115T>A (p.Phe39Ile)	BAG3 (F39I)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 1358111	NM_004281.4(BAG3):c.116T>C (p.Phe39Ser)	BAG3 (F39S)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1091508	NM_004281.4(BAG3):c.117C>T (p.Phe39=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 1410697	NM_004281.4(BAG3):c.122A>G (p.Asp41Gly)	BAG3 (D41G)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 935351	NM_004281.4(BAG3):c.125A>G (p.His42Arg)	BAG3 (H42R)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 1718846	NM_004281.4(BAG3):c.126C>G (p.His42Gln)	BAG3 (H42Q)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 1152588	NM_004281.4(BAG3):c.129C>T (p.Asn43=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 1644570	NM_004281.4(BAG3):c.132C>T (p.Ser44=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +2 more	GLikely benign
Select item 2951025	NM_004281.4(BAG3):c.133C>G (p.Arg45Gly)	BAG3 (R45G)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 1514767	NM_004281.4(BAG3):c.133C>A (p.Arg45Ser)	BAG3 (R45S)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 410233	NM_004281.4(BAG3):c.133C>T (p.Arg45Cys)	BAG3 (R45C)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +3 more	GConflicting classifications of pathogenicity
Select item 1500777	NM_004281.4(BAG3):c.136A>T (p.Thr46Ser)	BAG3 (T46S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 2136933	NM_004281.4(BAG3):c.137C>T (p.Thr46Ile)	BAG3 (T46I)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 1097948	NM_004281.4(BAG3):c.138C>T (p.Thr46=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +3 more	GLikely benign
Select item 201685	NM_004281.4(BAG3):c.142A>C (p.Thr48Pro)	BAG3 (T48P)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +2 more	GUncertain significance
Select item 958731	NM_004281.4(BAG3):c.143C>A (p.Thr48Lys)	BAG3 (T48K)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 566338	NM_004281.4(BAG3):c.146G>A (p.Trp49Ter)	BAG3 (W49*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 2942074	NM_004281.4(BAG3):c.147G>A (p.Trp49Ter)	BAG3 (W49*)	Single nucleotide variant (nonsense)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 2931980	NM_004281.4(BAG3):c.149A>G (p.Asn50Ser)	BAG3 (N50S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +2 more	GConflicting classifications of pathogenicity
Select item 2177045	NM_004281.4(BAG3):c.151G>A (p.Asp51Asn)	BAG3 (D51N)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 1433580	NM_004281.4(BAG3):c.155C>G (p.Pro52Arg)	BAG3 (P52R)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 1602544	NM_004281.4(BAG3):c.156G>A (p.Pro52=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 2035886	NM_004281.4(BAG3):c.160del (p.Val54fs)	BAG3 (V54fs)	Deletion (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 1435930	NM_004281.4(BAG3):c.160G>C (p.Val54Leu)	BAG3 (V54L)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 1396666	NM_004281.4(BAG3):c.165del (p.Ser56fs)	BAG3 (S56fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 1411710	NM_004281.4(BAG3):c.164C>T (p.Pro55Leu)	BAG3 (P55L)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1642135	NM_004281.4(BAG3):c.165C>T (p.Pro55=)	BAG3	Single nucleotide variant (synonymous variant)	Cardiovascular phenotype +2 more	GLikely benign
Select item 239789	NM_004281.4(BAG3):c.167C>G (p.Ser56Cys)	BAG3 (S56C)	Single nucleotide variant (missense variant)	BAG3-related disorder +4 more	GConflicting classifications of pathogenicity
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 539152	NM_004281.4(BAG3):c.173G>T (p.Gly58Val)	BAG3 (G58V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2930484	NM_004281.4(BAG3):c.174C>T (p.Gly58=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 2090075	NM_004281.4(BAG3):c.176C>G (p.Pro59Arg)	BAG3 (P59R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 1003688	NM_004281.4(BAG3):c.179A>G (p.Lys60Arg)	BAG3 (K60R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 2453007	NM_004281.4(BAG3):c.180+5G>A	BAG3	Single nucleotide variant (intron variant)	Cardiovascular phenotype +2 more	GUncertain significance

<< First< Prev

Page of 10