ClinVar for MedGen (Select 414119) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 1055

<< First< Prev

Page of 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3764073	NM_004281.4(BAG3):c.1073C>G (p.Pro358Arg)	BAG3 (P358R)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3764045	NM_004281.4(BAG3):c.180+12C>T	BAG3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3763608	NM_004281.4(BAG3):c.507+19C>T	BAG3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3763492	NM_004281.4(BAG3):c.300T>C (p.His100=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3763435	NM_004281.4(BAG3):c.1416A>G (p.Gly472=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3763273	NM_004281.4(BAG3):c.910-15G>C	BAG3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3763254	NM_004281.4(BAG3):c.513C>T (p.Ser171=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3763191	NM_004281.4(BAG3):c.218G>A (p.Gly73Asp)	BAG3 (G73D)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3763100	NM_004281.4(BAG3):c.218G>C (p.Gly73Ala)	BAG3 (G73A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3762688	NM_004281.4(BAG3):c.449A>G (p.Gln150Arg)	BAG3 (Q150R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 3762678	NM_004281.4(BAG3):c.93C>T (p.Asp31=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 3762449	NM_004281.4(BAG3):c.1449T>C (p.Gly483=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 3762448	NM_004281.4(BAG3):c.717G>A (p.Glu239=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 3762419	NM_004281.4(BAG3):c.983T>A (p.Val328Asp)	BAG3 (V328D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 3761962	NM_004281.4(BAG3):c.897C>G (p.Val299=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 3761869	NM_004281.4(BAG3):c.618C>T (p.Ile206=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 3761029	NM_004281.4(BAG3):c.1516C>T (p.Gln506Ter)	BAG3 (Q506*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 3761011	NM_004281.4(BAG3):c.522A>G (p.Pro174=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 3760972	NM_004281.4(BAG3):c.303A>T (p.Glu101Asp)	BAG3 (E101D)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 3760892	NM_004281.4(BAG3):c.1061A>G (p.Lys354Arg)	BAG3 (K354R)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 3760780	NM_004281.4(BAG3):c.49G>T (p.Gly17Cys)	BAG3 (G17C)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 3760480	NM_004281.4(BAG3):c.104G>T (p.Gly35Val)	BAG3 (G35V)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 3760185	NM_004281.4(BAG3):c.156G>T (p.Pro52=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 3760058	NM_004281.4(BAG3):c.960A>G (p.Lys320=)	BAG3	Single nucleotide variant (synonymous variant)	Dilated cardiomyopathy 1HH +1 more	GLikely benign
Select item 3759579	NM_004281.4(BAG3):c.784del (p.Ala262fs)	BAG3 (A262fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 3759225	NM_004281.4(BAG3):c.1432C>T (p.Gln478Ter)	BAG3 (Q478*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 3758839	NM_004281.4(BAG3):c.1596A>G (p.Ala532=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3758785	NM_004281.4(BAG3):c.1423G>T (p.Asp475Tyr)	BAG3 (D475Y)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3758656	NM_004281.4(BAG3):c.1126C>G (p.Pro376Ala)	BAG3 (P376A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3758654	NM_004281.4(BAG3):c.692C>G (p.Thr231Arg)	BAG3 (T231R)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3758327	NM_004281.4(BAG3):c.550T>C (p.Ser184Pro)	BAG3 (S184P)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3758324	NM_004281.4(BAG3):c.754G>C (p.Gly252Arg)	BAG3 (G252R)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3758116	NM_004281.4(BAG3):c.919A>T (p.Thr307Ser)	BAG3 (T307S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3758048	NM_004281.4(BAG3):c.1107T>C (p.Ala369=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3757830	NM_004281.4(BAG3):c.910-21_910-20delinsCG	BAG3	Indel (intron variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3757522	NM_004281.4(BAG3):c.1118_1125del (p.Cys373fs)	BAG3 (C373fs)	Deletion (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 3757466	NM_004281.4(BAG3):c.909+9A>C	BAG3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3757419	NM_004281.4(BAG3):c.1322A>G (p.Asn441Ser)	BAG3 (N441S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3757293	NM_004281.4(BAG3):c.1388T>A (p.Leu463Gln)	BAG3 (L463Q)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3757268	NM_004281.4(BAG3):c.1502T>A (p.Val501Asp)	BAG3 (V501D)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3756747	NM_004281.4(BAG3):c.977G>T (p.Gly326Val)	BAG3 (G326V)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3756716	NM_004281.4(BAG3):c.716A>T (p.Glu239Val)	BAG3 (E239V)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3756600	NM_004281.4(BAG3):c.130A>C (p.Ser44Arg)	BAG3 (S44R)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3756278	NM_004281.4(BAG3):c.1574T>G (p.Met525Arg)	BAG3 (M525R)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3755905	NM_004281.4(BAG3):c.595C>T (p.His199Tyr)	BAG3 (H199Y)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3755690	NM_004281.4(BAG3):c.1638C>T (p.His546=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3755633	NM_004281.4(BAG3):c.100_109del (p.Thr34fs)	BAG3 (T34fs)	Deletion (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 3755430	NM_004281.4(BAG3):c.1426G>A (p.Val476Met)	BAG3 (V476M)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3755196	NM_004281.4(BAG3):c.4dup (p.Ser2fs)	BAG3 (S2fs)	Duplication (frameshift variant)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 3754923	NM_004281.4(BAG3):c.684C>T (p.Ala228=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3754861	NM_004281.4(BAG3):c.224G>A (p.Arg75Lys)	BAG3 (R75K)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3754691	NM_004281.4(BAG3):c.1307A>T (p.Glu436Val)	BAG3 (E436V)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3754653	NM_004281.4(BAG3):c.1209A>C (p.Ala403=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3754377	NM_004281.4(BAG3):c.1665A>G (p.Thr555=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3754374	NM_004281.4(BAG3):c.919A>C (p.Thr307Pro)	BAG3 (T307P)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3754279	NM_004281.4(BAG3):c.455G>A (p.Gly152Glu)	BAG3 (G152E)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3753474	NM_004281.4(BAG3):c.1219C>G (p.Pro407Ala)	BAG3 (P407A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3753098	NM_004281.4(BAG3):c.990A>G (p.Pro330=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3753039	NM_004281.4(BAG3):c.1151C>T (p.Pro384Leu)	BAG3 (P384L)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3752960	NM_004281.4(BAG3):c.351T>C (p.Pro117=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3752826	NM_004281.4(BAG3):c.717G>C (p.Glu239Asp)	BAG3 (E239D)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3752669	NM_004281.4(BAG3):c.1097T>C (p.Val366Ala)	BAG3 (V366A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3752093	NM_004281.4(BAG3):c.118G>T (p.Val40Leu)	BAG3 (V40L)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3751913	NM_004281.4(BAG3):c.1495A>G (p.Ile499Val)	BAG3 (I499V)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3751563	NM_004281.4(BAG3):c.1467C>T (p.Thr489=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3751478	NM_004281.4(BAG3):c.1048C>T (p.Pro350Ser)	BAG3 (P350S)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3751309	NM_004281.4(BAG3):c.964G>A (p.Glu322Lys)	BAG3 (E322K)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3751171	NM_004281.4(BAG3):c.1318G>T (p.Asp440Tyr)	BAG3 (D440Y)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3750933	NM_004281.4(BAG3):c.863A>T (p.His288Leu)	BAG3 (H288L)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3750926	NM_004281.4(BAG3):c.1568C>T (p.Ala523Val)	BAG3 (A523V)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3750816	NM_004281.4(BAG3):c.1493C>T (p.Ala498Val)	BAG3 (A498V)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3750682	NM_004281.4(BAG3):c.730C>G (p.Gln244Glu)	BAG3 (Q244E)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3750555	NM_004281.4(BAG3):c.1338G>A (p.Lys446=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3750385	NM_004281.4(BAG3):c.645C>G (p.Asn215Lys)	BAG3 (N215K)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3750246	NM_004281.4(BAG3):c.1545T>C (p.Leu515=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3750173	NM_004281.4(BAG3):c.543C>G (p.Ser181=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3750097	NM_004281.4(BAG3):c.655C>A (p.Pro219Thr)	BAG3 (P219T)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3750076	NM_004281.4(BAG3):c.909+19C>T	BAG3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3750040	NM_004281.4(BAG3):c.849C>T (p.Ser283=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3749786	NM_004281.4(BAG3):c.680A>C (p.Gln227Pro)	BAG3 (Q227P)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3749713	NM_004281.4(BAG3):c.143C>T (p.Thr48Met)	BAG3 (T48M)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3749424	NM_004281.4(BAG3):c.910-9T>C	BAG3	Single nucleotide variant (intron variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3749189	NM_004281.4(BAG3):c.544T>C (p.Ser182Pro)	BAG3 (S182P)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3749029	NM_004281.4(BAG3):c.711G>A (p.Gln237=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3748951	NM_004281.4(BAG3):c.908A>G (p.Gln303Arg)	BAG3 (Q303R)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3748792	NM_004281.4(BAG3):c.449A>C (p.Gln150Pro)	BAG3 (Q150P)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3748766	NM_004281.4(BAG3):c.289C>A (p.Pro97Thr)	BAG3 (P97T)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3748389	NM_004281.4(BAG3):c.224G>T (p.Arg75Met)	BAG3 (R75M)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3748338	NM_004281.4(BAG3):c.1065C>T (p.Pro355=)	BAG3	Single nucleotide variant (synonymous variant)	Myofibrillar myopathy 6 +1 more	GLikely benign
Select item 3748266	NM_004281.4(BAG3):c.700C>G (p.Pro234Ala)	BAG3 (P234A)	Single nucleotide variant (missense variant)	Myofibrillar myopathy 6 +1 more	GUncertain significance
Select item 3748065	NM_004281.4(BAG3):c.257dup (p.Tyr86Ter)	BAG3 (Y86*)	Duplication (nonsense)	Myofibrillar myopathy 6 +1 more	GPathogenic
Select item 3590729	NM_004281.4(BAG3):c.1626del (p.Glu543fs)	BAG3 (E543fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 3590722	NM_004281.4(BAG3):c.1077del (p.Glu360fs)	BAG3 (E360fs)	Deletion (frameshift variant)	Dilated cardiomyopathy 1HH +1 more	GLikely pathogenic
Select item 3590709	NM_004281.4(BAG3):c.821C>A (p.Ser274Ter)	BAG3 (S274*)	Single nucleotide variant (nonsense)	Dilated cardiomyopathy 1HH +1 more	GPathogenic
Select item 3474807	NM_004281.4(BAG3):c.833G>A (p.Gly278Asp)	BAG3 (G278D)	Single nucleotide variant (missense variant)	Cardiovascular phenotype +2 more	GUncertain significance
Select item 3360400	NM_004281.4(BAG3):c.377C>A (p.Ala126Glu)	BAG3 (A126E)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3342402	NM_004281.4(BAG3):c.284C>A (p.Pro95His)	BAG3 (P95H)	Single nucleotide variant (missense variant)	Dilated cardiomyopathy 1HH +2 more	GUncertain significance
Select item 3244902	NC_000010.10:g.(?_121429343)_(121432188_?)dup	BAG3	Duplication	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 3244901	NC_000010.10:g.(?_121411188)_(121432188_?)dup	BAG3	Duplication	Dilated cardiomyopathy 1HH +1 more	GUncertain significance
Select item 3244900	NC_000010.10:g.(?_121435956)_(121436794_?)dup	BAG3	Duplication	Dilated cardiomyopathy 1HH +1 more	GUncertain significance

<< First< Prev

Page of 11