"PreventionGenetics, part of Exact Sciences"[submitter] AND "TRIM32"[g - ClinVar

Search results

Items: 83

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3029594	NM_012210.4(TRIM32):c.-6A>G	ASTN2, TRIM32	Single nucleotide variant (5 prime UTR variant +1 more)	TRIM32-related disorder	GLikely benign
Select item 282304	NM_012210.4(TRIM32):c.-5G>A	ASTN2, TRIM32	Single nucleotide variant (5 prime UTR variant +1 more)	TRIM32-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 2171515	NM_012210.4(TRIM32):c.20C>T (p.Ser7Phe)	ASTN2, TRIM32 (S7F)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +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)	TRIM32-related disorder +4 more	GUncertain significance
Select item 364716	NM_012210.4(TRIM32):c.69C>T (p.Cys23=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 11 +3 more	GConflicting classifications of pathogenicity
Select item 1077195	NM_012210.4(TRIM32):c.99T>C (p.Arg33=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 448704	NM_012210.4(TRIM32):c.127A>G (p.Ile43Val)	ASTN2, TRIM32 (I43V)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +5 more	GUncertain significance
Select item 1619665	NM_012210.4(TRIM32):c.153A>G (p.Leu51=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 437053	NM_012210.4(TRIM32):c.196_205del (p.Lys66fs)	ASTN2, TRIM32 (K66fs)	Deletion (frameshift variant +1 more)	TRIM32-related disorder +1 more	GPathogenic/Likely pathogenic
Select item 282441	NM_012210.4(TRIM32):c.201T>C (p.Ile67=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
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 11 +3 more	GUncertain significance
Select item 290913	NM_012210.4(TRIM32):c.238C>T (p.Leu80=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 167745	NM_012210.4(TRIM32):c.257T>C (p.Ile86Thr)	ASTN2, TRIM32 (I86T)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder +4 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)	TRIM32-related disorder +5 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 disorder +4 more	GConflicting classifications of pathogenicity
Select item 282492	NM_012210.4(TRIM32):c.319C>T (p.Leu107=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 288179	NM_012210.4(TRIM32):c.330A>G (p.Gln110=)	TRIM32, ASTN2	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2041739	NM_012210.4(TRIM32):c.338G>A (p.Arg113Gln)	ASTN2, TRIM32 (R113Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 281051	NM_012210.4(TRIM32):c.339G>C (p.Arg113=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1339315	NM_012210.4(TRIM32):c.341G>A (p.Ser114Asn)	ASTN2, TRIM32 (S114N)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder +2 more	GUncertain significance
Select item 507205	NM_012210.4(TRIM32):c.366C>G (p.Pro122=)	TRIM32, ASTN2	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related disorder +2 more	GLikely benign
Select item 283473	NM_012210.4(TRIM32):c.370C>T (p.Arg124Trp)	ASTN2, TRIM32 (R124W)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 7351	NM_012210.4(TRIM32):c.388C>T (p.Pro130Ser)	ASTN2, TRIM32 (P130S)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GPathogenic/Likely pathogenic
Select item 364717	NM_012210.4(TRIM32):c.409C>T (p.Pro137Ser)	TRIM32, ASTN2 (P137S)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +4 more	GConflicting classifications of pathogenicity
Select item 836456	NM_012210.4(TRIM32):c.434G>A (p.Arg145Gln)	ASTN2, TRIM32 (R145Q)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder +3 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)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 290325	NM_012210.4(TRIM32):c.464G>A (p.Arg155His)	ASTN2, TRIM32 (R155H)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +4 more	GUncertain significance
Select item 285227	NM_012210.4(TRIM32):c.467T>C (p.Leu156Pro)	ASTN2, TRIM32 (L156P)	Single nucleotide variant (missense variant +1 more)	not specified +5 more	GConflicting classifications of pathogenicity
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 195281	NM_012210.4(TRIM32):c.480G>A (p.Met160Ile)	ASTN2, TRIM32 (M160I)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +4 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)	Bardet-Biedl syndrome 11 +3 more	GUncertain significance
Select item 95498	NM_012210.4(TRIM32):c.501G>A (p.Lys167=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 288658	NM_012210.4(TRIM32):c.521C>T (p.Ser174Phe)	ASTN2, TRIM32 (S174F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +5 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)	Sarcotubular myopathy +5 more	GConflicting classifications of pathogenicity
Select item 1339327	NM_012210.4(TRIM32):c.601C>T (p.Arg201Cys)	ASTN2, TRIM32 (R201C)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder +3 more	GUncertain significance
Select item 195283	NM_012210.4(TRIM32):c.633T>C (p.Ala211=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 3030784	NM_012210.4(TRIM32):c.647C>G (p.Ser216Cys)	ASTN2, TRIM32 (S216C)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder	GUncertain significance
Select item 498075	NM_012210.4(TRIM32):c.650A>G (p.Asn217Ser)	ASTN2, TRIM32 (N217S)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +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)	TRIM32-related disorder +4 more	GUncertain significance
Select item 1063782	NM_012210.4(TRIM32):c.713G>T (p.Arg238Leu)	ASTN2, TRIM32 (R238L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 3035125	NM_012210.4(TRIM32):c.757C>T (p.Leu253=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related disorder	GLikely benign
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)	Sarcotubular myopathy +5 more	GUncertain significance
Select item 568344	NM_012210.4(TRIM32):c.863C>A (p.Pro288His)	ASTN2, TRIM32 (P288H)	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 disorder +4 more	GUncertain significance
Select item 501026	NM_012210.4(TRIM32):c.907G>A (p.Val303Met)	ASTN2, TRIM32 (V303M)	Single nucleotide variant (missense variant +1 more)	not provided +2 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)	Sarcotubular myopathy +4 more	GUncertain significance
Select item 1082793	NM_012210.4(TRIM32):c.987G>A (p.Pro329=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related disorder +1 more	GLikely benign
Select item 452197	NM_012210.4(TRIM32):c.1012G>A (p.Ala338Thr)	ASTN2, TRIM32 (A338T)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +5 more	GUncertain significance
Select item 2170196	NM_012210.4(TRIM32):c.1031G>A (p.Arg344Gln)	ASTN2, TRIM32 (R344Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 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)	Bardet-Biedl syndrome +4 more	GUncertain significance
Select item 195284	NM_012210.4(TRIM32):c.1134C>T (p.Tyr378=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +3 more	GConflicting classifications of pathogenicity
Select item 285076	NM_012210.4(TRIM32):c.1140C>T (p.Thr380=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1053501	NM_012210.4(TRIM32):c.1142G>A (p.Ser381Asn)	ASTN2, TRIM32 (S381N)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1609817	NM_012210.4(TRIM32):c.1161C>T (p.Val387=)	TRIM32, ASTN2	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 531835	NM_012210.4(TRIM32):c.1196C>T (p.Thr399Ile)	ASTN2, TRIM32 (T399I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 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 100583	NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)	ASTN2, TRIM32 (R408C)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +4 more	GConflicting classifications of pathogenicity
Select item 284781	NM_012210.4(TRIM32):c.1223G>A (p.Arg408His)	ASTN2, TRIM32 (R408H)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
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 697113	NM_012210.4(TRIM32):c.1275T>C (p.Asp425=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related disorder +3 more	GBenign/Likely benign
Select item 531840	NM_012210.4(TRIM32):c.1326T>A (p.Ile442=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 913170	NM_012210.4(TRIM32):c.1383C>T (p.Cys461=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +4 more	GConflicting classifications of pathogenicity
Select item 411138	NM_012210.4(TRIM32):c.1384G>A (p.Val462Met)	ASTN2, TRIM32 (V462M)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 364718	NM_012210.4(TRIM32):c.1386G>A (p.Val462=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome 11 +4 more	GConflicting classifications of pathogenicity
Select item 960963	NM_012210.4(TRIM32):c.1400G>C (p.Ser467Thr)	ASTN2, TRIM32 (S467T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 1190303	NM_012210.4(TRIM32):c.1416A>G (p.Pro472=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related disorder +2 more	GLikely benign
Select item 95496	NM_012210.4(TRIM32):c.1458C>T (p.Thr486=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 501785	NM_012210.4(TRIM32):c.1530A>G (p.Leu510=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	TRIM32-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 289166	NM_012210.4(TRIM32):c.1569_1575del (p.Glu524fs)	TRIM32, ASTN2 (E524fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 699313	NM_012210.4(TRIM32):c.1609C>T (p.Leu537=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +3 more	GBenign/Likely benign
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 569891	NM_012210.4(TRIM32):c.1619G>A (p.Arg540Gln)	ASTN2, TRIM32 (R540Q)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder +3 more	GUncertain significance
Select item 3031578	NM_012210.4(TRIM32):c.1663G>T (p.Val555Leu)	ASTN2, TRIM32 (V555L)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder	GUncertain significance
Select item 2050686	NM_012210.4(TRIM32):c.1687C>T (p.Arg563Cys)	ASTN2, TRIM32 (R563C)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder +1 more	GUncertain significance
Select item 260215	NM_012210.4(TRIM32):c.1710G>A (p.Ser570=)	ASTN2, TRIM32	Single nucleotide variant (intron variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 364720	NM_012210.4(TRIM32):c.1720G>T (p.Asp574Tyr)	ASTN2, TRIM32 (D574Y)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +2 more	GUncertain significance
Select item 2437266	NM_012210.4(TRIM32):c.1787G>T (p.Arg596Leu)	ASTN2, TRIM32 (R596L)	Single nucleotide variant (missense variant +1 more)	not provided +1 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)	TRIM32-related disorder +3 more	GUncertain significance
Select item 1029181	NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter)	ASTN2, TRIM32 (R613*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GUncertain significance
Select item 285576	NM_012210.4(TRIM32):c.1838G>A (p.Arg613Gln)	TRIM32, ASTN2 (R613Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 1499574	NM_012210.4(TRIM32):c.1870C>G (p.Leu624Val)	ASTN2, TRIM32 (L624V)	Single nucleotide variant (missense variant +1 more)	TRIM32-related disorder +1 more	GUncertain significance
Select item 594702	NM_012210.4(TRIM32):c.1882G>A (p.Gly628Arg)	ASTN2, TRIM32 (G628R)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance

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Items: 83