"Illumina Laboratory Services, Illumina"[submitter] AND "ASTN2"[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 364712	NM_012210.4(TRIM32):c.-133G>C	ASTN2, TRIM32	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GBenign
Select item 364713	NM_012210.4(TRIM32):c.-124G>A	TRIM32, ASTN2	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GUncertain significance
Select item 364714	NM_012210.4(TRIM32):c.-109T>C	ASTN2, TRIM32	Single nucleotide variant (5 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GUncertain significance
Select item 364715	NM_012210.4(TRIM32):c.27G>C (p.Leu9=)	ASTN2, TRIM32	Single nucleotide variant (intron variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GConflicting classifications of pathogenicity
Select item 364716	NM_012210.4(TRIM32):c.69C>T (p.Cys23=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related condition +3 more	GConflicting classifications of pathogenicity
Select item 95497	NM_012210.4(TRIM32):c.276C>T (p.Ser92=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related condition +4 more	GConflicting classifications of pathogenicity
Select item 289342	NM_012210.4(TRIM32):c.292C>A (p.Leu98Ile)	ASTN2, TRIM32 (L98I)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
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 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 283473	NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp)	ASTN2, TRIM32 (R124W)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +4 more	GConflicting classifications of pathogenicity
Select item 364717	NM_012210.4(TRIM32):c.409C>T (p.Pro137Ser)	ASTN2, TRIM32 (P137S)	Single nucleotide variant (missense variant +1 more)	TRIM32-related condition +4 more	GConflicting classifications of pathogenicity
Select item 195281	NM_012210.4(TRIM32):c.480G>A (p.Met160Ile)	ASTN2, TRIM32 (M160I)	Single nucleotide variant (missense variant +1 more)	TRIM32-related condition +4 more	GUncertain significance
Select item 195280	NM_012210.4(TRIM32):c.558G>C (p.Gln186His)	ASTN2, TRIM32 (Q186H)	Single nucleotide variant (missense variant +1 more)	TRIM32-related condition +5 more	GConflicting classifications of pathogenicity
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 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 260216	NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg)	ASTN2, TRIM32 (T257R)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +4 more	GConflicting classifications of pathogenicity
Select item 378760	NM_012210.4(TRIM32):c.811C>T (p.Arg271Trp)	ASTN2, TRIM32 (R271W)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +5 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 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 100583	NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)	ASTN2, TRIM32 (R408C)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 95495	NM_012210.4(TRIM32):c.1254G>A (p.Val418=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign
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 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 364718	NM_012210.4(TRIM32):c.1386G>A (p.Val462=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related condition +4 more	GConflicting classifications of pathogenicity
Select item 364719	NM_012210.4(TRIM32):c.1432T>G (p.Leu478Val)	ASTN2, TRIM32 (L478V)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +1 more	GUncertain significance
Select item 95496	NM_012210.4(TRIM32):c.1458C>T (p.Thr486=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related condition +4 more	GConflicting classifications of pathogenicity
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 364720	NM_012210.4(TRIM32):c.1720G>T (p.Asp574Tyr)	ASTN2, TRIM32 (D574Y)	Single nucleotide variant (missense variant +1 more)	TRIM32-related condition +2 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 364721	NM_012210.4(TRIM32):c.*84A>C	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GUncertain significance
Select item 364722	NM_012210.4(TRIM32):c.*112G>A	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcotubular myopathy +1 more	GUncertain significance
Select item 364723	NM_012210.4(TRIM32):c.*129C>T	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GBenign
Select item 364724	NM_012210.4(TRIM32):c.*152T>G	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcotubular myopathy +1 more	GUncertain significance
Select item 364725	NM_012210.4(TRIM32):c.*177C>T	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +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 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 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 364726	NM_012210.4(TRIM32):c.*283G>T	TRIM32, ASTN2	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcotubular myopathy +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 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 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 364727	NM_012210.4(TRIM32):c.*479G>T	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 364728	NM_012210.4(TRIM32):c.*512A>T	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
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 364729	NM_012210.4(TRIM32):c.*589G>A	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcotubular myopathy +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 364730	NM_012210.4(TRIM32):c.*692C>G	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GConflicting classifications of pathogenicity
Select item 364731	NM_012210.4(TRIM32):c.*737T>C	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +1 more	GUncertain significance
Select item 364732	NM_012210.4(TRIM32):c.*811del	ASTN2, TRIM32	Deletion (3 prime UTR variant +1 more)	Limb-Girdle Muscular Dystrophy, Recessive +1 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 364733	NM_012210.4(TRIM32):c.*866A>C	TRIM32, ASTN2	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcotubular myopathy +1 more	GUncertain significance
Select item 364734	NM_012210.4(TRIM32):c.*935A>G	TRIM32, ASTN2	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcotubular myopathy +1 more	GUncertain significance
Select item 364735	NM_012210.4(TRIM32):c.*1060T>C	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Sarcotubular myopathy +1 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 364736	NM_012210.4(TRIM32):c.*1077C>T	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 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
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 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 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 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 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 364739	NM_012210.4(TRIM32):c.1411_1414dup	ASTN2, TRIM32	Duplication (3 prime UTR variant +1 more)	Limb-Girdle Muscular Dystrophy, Recessive +1 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 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 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

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Items: 67