ClinVar for MedGen (Select 78750) - ClinVar - NCBI

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

Links from MedGen

Items: 1 to 100 of 155

<< First< Prev

Page of 2

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064184	NM_001365068.1(ASTN2):c.892G>C (p.Asp298His)	ASTN2 (D298H)	Single nucleotide variant (missense variant)	Sarcotubular myopathy	GUncertain significance
Select item 2502191	NM_012210.4(TRIM32):c.1294C>T (p.Leu432Phe)	ASTN2, TRIM32 (L432F)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy	GUncertain significance
Select item 1495209	NM_012210.4(TRIM32):c.577C>T (p.Arg193Cys)	ASTN2, TRIM32 (R193C)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1478070	NM_012210.4(TRIM32):c.739A>G (p.Lys247Glu)	ASTN2, TRIM32 (K247E)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GUncertain significance
Select item 1473156	NM_012210.4(TRIM32):c.1115A>G (p.Asn372Ser)	TRIM32, ASTN2 (N372S)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +2 more	GUncertain significance
Select item 1432483	NM_012210.4(TRIM32):c.986C>G (p.Pro329Arg)	ASTN2, TRIM32 (P329R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GUncertain significance
Select item 1425945	NM_012210.4(TRIM32):c.1135G>A (p.Val379Met)	ASTN2, TRIM32 (V379M)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GUncertain significance
Select item 1424332	NM_012210.4(TRIM32):c.494G>A (p.Arg165Gln)	ASTN2, TRIM32 (R165Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GUncertain significance
Select item 1408934	NM_012210.4(TRIM32):c.842T>C (p.Leu281Pro)	ASTN2, TRIM32 (L281P)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GUncertain significance
Select item 1398879	NM_012210.4(TRIM32):c.1951T>C (p.Ser651Pro)	ASTN2, TRIM32 (S651P)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1363356	NM_012210.4(TRIM32):c.134G>A (p.Arg45His)	ASTN2, TRIM32 (R45H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GUncertain significance
Select item 1362898	NM_012210.4(TRIM32):c.1321C>G (p.Leu441Val)	ASTN2, TRIM32 (L441V)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GUncertain significance
Select item 1343785	NM_012210.4(TRIM32):c.1603del (p.Leu535fs)	ASTN2, TRIM32 (L535fs)	Deletion (frameshift variant +1 more)	Sarcotubular myopathy	GPathogenic
Select item 1339327	NM_012210.4(TRIM32):c.601C>T (p.Arg201Cys)	ASTN2, TRIM32 (R201C)	Single nucleotide variant (missense variant +1 more)	TRIM32-related condition +3 more	GUncertain significance
Select item 1161357	NM_012210.4(TRIM32):c.474A>G (p.Glu158=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GLikely benign
Select item 1140961	NM_012210.4(TRIM32):c.216C>T (p.Ser72=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GLikely benign
Select item 1123864	NM_012210.4(TRIM32):c.939G>T (p.Ala313=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GLikely benign
Select item 1080174	NM_012210.4(TRIM32):c.1728C>T (p.Arg576=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GLikely benign
Select item 1077638	NM_012210.4(TRIM32):c.378A>G (p.Ala126=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GLikely benign
Select item 1069605	NM_012210.4(TRIM32):c.1771G>A (p.Val591Met)	ASTN2, TRIM32 (V591M)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +3 more	GConflicting classifications of pathogenicity
Select item 1060191	NM_012210.4(TRIM32):c.133C>T (p.Arg45Cys)	ASTN2, TRIM32 (R45C)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GUncertain significance
Select item 1047335	NM_012210.4(TRIM32):c.493C>T (p.Arg165Trp)	ASTN2, TRIM32 (R165W)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +2 more	GUncertain significance
Select item 1043028	NM_012210.4(TRIM32):c.464G>C (p.Arg155Pro)	ASTN2, TRIM32 (R155P)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +2 more	GUncertain significance
Select item 1032554	NM_012210.4(TRIM32):c.896G>A (p.Arg299Gln)	ASTN2, TRIM32 (R299Q)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +3 more	GUncertain significance
Select item 1032553	NM_012210.4(TRIM32):c.821C>G (p.Thr274Ser)	ASTN2, TRIM32 (T274S)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy	GUncertain significance
Select item 1029181	NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter)	ASTN2, TRIM32 (R613*)	Single nucleotide variant (nonsense +1 more)	TRIM32-related condition +2 more	GUncertain significance
Select item 1014438	NM_012210.4(TRIM32):c.1618C>T (p.Arg540Trp)	ASTN2, TRIM32 (R540W)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 1012070	NM_012210.4(TRIM32):c.1787G>A (p.Arg596His)	ASTN2, TRIM32 (R596H)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +3 more	GUncertain significance
Select item 1010555	NM_012210.4(TRIM32):c.422C>A (p.Ala141Glu)	ASTN2, TRIM32 (A141E)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +2 more	GUncertain significance
Select item 1007246	NM_012210.4(TRIM32):c.1061A>G (p.Gln354Arg)	ASTN2, TRIM32 (Q354R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 1004433	NM_012210.4(TRIM32):c.1199G>T (p.Arg400Leu)	ASTN2, TRIM32 (R400L)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +2 more	GUncertain significance
Select item 1003867	NM_012210.4(TRIM32):c.314G>A (p.Arg105Gln)	ASTN2, TRIM32 (R105Q)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +2 more	GUncertain significance
Select item 1001607	NM_012210.4(TRIM32):c.1198C>T (p.Arg400Cys)	ASTN2, TRIM32 (R400C)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 999474	NM_012210.4(TRIM32):c.811C>G (p.Arg271Gly)	ASTN2, TRIM32 (R271G)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 999138	NM_012210.4(TRIM32):c.973A>G (p.Met325Val)	ASTN2, TRIM32 (M325V)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +3 more	GUncertain significance
Select item 976597	NM_012210.4(TRIM32):c.978C>T (p.Asp326=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 976584	NM_012210.4(TRIM32):c.*1424C>G	ASTN2, TRIM32	Single nucleotide variant (intron variant +1 more)	Sarcotubular myopathy +1 more	GUncertain significance
Select item 972625	NM_012210.4(TRIM32):c.458_465del (p.Leu153fs)	ASTN2, TRIM32 (L153fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +3 more	GPathogenic/Likely pathogenic
Select item 965464	NM_012210.4(TRIM32):c.494G>T (p.Arg165Leu)	ASTN2, TRIM32 (R165L)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +2 more	GUncertain significance
Select item 963499	NM_012210.4(TRIM32):c.206G>A (p.Arg69His)	ASTN2, TRIM32 (R69H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 937854	NM_012210.4(TRIM32):c.1544G>A (p.Arg515Gln)	ASTN2, TRIM32 (R515Q)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 914892	NM_012210.4(TRIM32):c.*1416A>G	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcotubular myopathy +1 more	GUncertain significance
Select item 914891	NM_012210.4(TRIM32):c.*1354C>A	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GUncertain significance
Select item 914890	NM_012210.4(TRIM32):c.*1350A>C	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GUncertain significance
Select item 914889	NM_012210.4(TRIM32):c.*1254C>A	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GUncertain significance
Select item 914841	NM_012210.4(TRIM32):c.*530C>T	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcotubular myopathy +1 more	GUncertain significance
Select item 914810	NM_012210.4(TRIM32):c.1840G>A (p.Glu614Lys)	ASTN2, TRIM32 (E614K)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +2 more	GUncertain significance
Select item 914766	NM_012210.4(TRIM32):c.621A>G (p.Thr207=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Sarcotubular myopathy +1 more	GUncertain significance
Select item 914382	NM_012210.4(TRIM32):c.*1246T>C	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 914381	NM_012210.4(TRIM32):c.*1152A>G	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 914347	NM_012210.4(TRIM32):c.*464C>G	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GUncertain significance
Select item 914346	NM_012210.4(TRIM32):c.*371T>C	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GUncertain significance
Select item 914345	NM_012210.4(TRIM32):c.*312G>C	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GUncertain significance
Select item 914305	NM_012210.4(TRIM32):c.1573G>T (p.Gly525Cys)	ASTN2, TRIM32 (G525C)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GUncertain significance
Select item 914267	NM_012210.4(TRIM32):c.317G>A (p.Arg106His)	ASTN2, TRIM32 (R106H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GUncertain significance
Select item 913268	NM_012210.4(TRIM32):c.*1074A>T	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcotubular myopathy +1 more	GUncertain significance
Select item 913227	NM_012210.4(TRIM32):c.*250G>C	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcotubular myopathy +1 more	GUncertain significance
Select item 913226	NM_012210.4(TRIM32):c.*229C>T	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcotubular myopathy +1 more	GUncertain significance
Select item 913225	NM_012210.4(TRIM32):c.*206A>G	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GUncertain significance
Select item 913170	NM_012210.4(TRIM32):c.1383C>T (p.Cys461=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 913169	NM_012210.4(TRIM32):c.1306A>G (p.Met436Val)	ASTN2, TRIM32 (M436V)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +3 more	GUncertain significance
Select item 912894	NM_012210.4(TRIM32):c.*845C>T	ASTN2, TRIM32	Single nucleotide variant (intron variant +1 more)	not provided +2 more	GBenign
Select item 912893	NM_012210.4(TRIM32):c.*676G>T	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GUncertain significance
Select item 912761	NM_012210.4(TRIM32):c.-143C>T	TRIM32, ASTN2	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GUncertain significance
Select item 864083	NM_012210.4(TRIM32):c.32T>C (p.Leu11Pro)	ASTN2, TRIM32 (L11P)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +3 more	GUncertain significance
Select item 863060	NM_012210.4(TRIM32):c.277G>A (p.Glu93Lys)	ASTN2, TRIM32 (E93K)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 860718	NM_012210.4(TRIM32):c.578G>A (p.Arg193His)	ASTN2, TRIM32 (R193H)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +3 more	GUncertain significance
Select item 855521	NM_012210.4(TRIM32):c.265G>A (p.Ala89Thr)	ASTN2, TRIM32 (A89T)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 840861	NM_012210.4(TRIM32):c.302G>A (p.Arg101Gln)	ASTN2, TRIM32 (R101Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +3 more	GUncertain significance
Select item 837259	NM_012210.4(TRIM32):c.325C>T (p.Arg109Trp)	ASTN2, TRIM32 (R109W)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 836456	NM_012210.4(TRIM32):c.434G>A (p.Arg145Gln)	ASTN2, TRIM32 (R145Q)	Single nucleotide variant (missense variant +1 more)	TRIM32-related condition +3 more	GUncertain significance
Select item 813981	NM_012210.4(TRIM32):c.1424_1426dup (p.Ile475dup)	ASTN2, TRIM32	Duplication (inframe_insertion +1 more)	Sarcotubular myopathy	GUncertain significance
Select item 802505	NM_012210.4(TRIM32):c.1201A>T (p.Lys401Ter)	TRIM32, ASTN2 (K401*)	Single nucleotide variant (nonsense +1 more)	Sarcotubular myopathy	GPathogenic
Select item 699313	NM_012210.4(TRIM32):c.1609C>T (p.Leu537=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related condition +3 more	GBenign/Likely benign
Select item 697113	NM_012210.4(TRIM32):c.1275T>C (p.Asp425=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related condition +3 more	GBenign/Likely benign
Select item 650525	NM_012210.4(TRIM32):c.377C>T (p.Ala126Val)	ASTN2, TRIM32 (A126V)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GUncertain significance
Select item 645718	NM_012210.4(TRIM32):c.479T>C (p.Met160Thr)	ASTN2, TRIM32 (M160T)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 635044	NM_012210.4(TRIM32):c.872T>G (p.Ile291Ser)	ASTN2, TRIM32 (I291S)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy	GUncertain significance
Select item 597209	NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs)	ASTN2, TRIM32 (Y378fs)	Microsatellite (intron variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GPathogenic/Likely pathogenic
Select item 597006	NM_012210.4(TRIM32):c.463C>A (p.Arg155Ser)	ASTN2, TRIM32 (R155S)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GUncertain significance
Select item 576739	NM_012210.4(TRIM32):c.488T>C (p.Leu163Pro)	ASTN2, TRIM32 (L163P)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +3 more	GUncertain significance
Select item 574734	NM_012210.4(TRIM32):c.1488C>G (p.Phe496Leu)	ASTN2, TRIM32 (F496L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 569891	NM_012210.4(TRIM32):c.1619G>A (p.Arg540Gln)	ASTN2, TRIM32 (R540Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 568344	NM_012210.4(TRIM32):c.863C>A (p.Pro288His)	TRIM32, ASTN2 (P288H)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 567015	NM_012210.4(TRIM32):c.688A>G (p.Ile230Val)	TRIM32, ASTN2 (I230V)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 565373	NM_012210.4(TRIM32):c.889A>G (p.Lys297Glu)	ASTN2, TRIM32 (K297E)	Single nucleotide variant (missense variant +1 more)	TRIM32-related condition +4 more	GUncertain significance
Select item 531842	NM_012210.4(TRIM32):c.660G>C (p.Val220=)	ASTN2, TRIM32	Single nucleotide variant (intron variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 514026	NM_012210.4(TRIM32):c.1623G>A (p.Gln541=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Sarcotubular myopathy +3 more	GLikely benign
Select item 502143	NM_012210.4(TRIM32):c.496C>T (p.Arg166Trp)	ASTN2, TRIM32 (R166W)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 498075	NM_012210.4(TRIM32):c.650A>G (p.Asn217Ser)	ASTN2, TRIM32 (N217S)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 462948	NM_012210.4(TRIM32):c.440G>A (p.Arg147Gln)	ASTN2, TRIM32 (R147Q)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +3 more	GUncertain significance
Select item 462945	NM_012210.4(TRIM32):c.1046C>G (p.Ala349Gly)	ASTN2, TRIM32 (A349G)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +4 more	GUncertain significance
Select item 452197	NM_012210.4(TRIM32):c.1012G>A (p.Ala338Thr)	ASTN2, TRIM32 (A338T)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 451845	NM_012210.4(TRIM32):c.1168C>T (p.Arg390Cys)	ASTN2, TRIM32 (R390C)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +3 more	GUncertain significance
Select item 450274	NM_012210.4(TRIM32):c.979A>G (p.Met327Val)	ASTN2, TRIM32 (M327V)	Single nucleotide variant (missense variant +1 more)	TRIM32-related condition +4 more	GUncertain significance
Select item 448704	NM_012210.4(TRIM32):c.127A>G (p.Ile43Val)	ASTN2, TRIM32 (I43V)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GUncertain significance
Select item 378760	NM_012210.4(TRIM32):c.811C>T (p.Arg271Trp)	ASTN2, TRIM32 (R271W)	Single nucleotide variant (missense variant +1 more)	not provided +5 more	GUncertain significance
Select item 364740	NM_012210.4(TRIM32):c.*1490A>C	TRIM32, ASTN2	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcotubular myopathy +1 more	GUncertain significance
Select item 364738	NM_012210.4(TRIM32):c.*1207A>G	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcotubular myopathy +1 more	GUncertain significance
Select item 364737	NM_012210.4(TRIM32):c.*1206T>C	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GBenign

<< First< Prev

Page of 2