"Fulgent Genetics, Fulgent Genetics"[submitter] AND "ASTN2"[gene] - ClinVar

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 +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 +2 more	GConflicting classifications of pathogenicity
Select item 284679	NM_012210.4(TRIM32):c.98G>A (p.Arg33His)	ASTN2, TRIM32 (R33H)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +2 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 provided +4 more	GUncertain significance
Select item 1060191	NM_012210.4(TRIM32):c.133C>T (p.Arg45Cys)	ASTN2, TRIM32 (R45C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 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 +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)	Inborn genetic diseases +3 more	GUncertain significance
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 167745	NM_012210.4(TRIM32):c.257T>C (p.Ile86Thr)	ASTN2, TRIM32 (I86T)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +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	GUncertain significance
Select item 863060	NM_012210.4(TRIM32):c.277G>A (p.Glu93Lys)	TRIM32, ASTN2 (E93K)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 289342	NM_012210.4(TRIM32):c.292C>A (p.Leu98Ile)	ASTN2, TRIM32 (L98I)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +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 +3 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 837259	NM_012210.4(TRIM32):c.325C>T (p.Arg109Trp)	ASTN2, TRIM32 (R109W)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +3 more	GUncertain significance
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 +2 more	GUncertain significance
Select item 1077638	NM_012210.4(TRIM32):c.378A>G (p.Ala126=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 288372	NM_012210.4(TRIM32):c.404C>T (p.Thr135Ile)	ASTN2, TRIM32 (T135I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +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)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 290461	NM_012210.4(TRIM32):c.430G>A (p.Glu144Lys)	ASTN2, TRIM32 (E144K)	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)	Bardet-Biedl syndrome 11 +2 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)	TRIM32-related disorder +3 more	GUncertain significance
Select item 972625	NM_012210.4(TRIM32):c.458_465del (p.Leu153fs)	ASTN2, TRIM32 (L153fs)	Deletion (frameshift variant +1 more)	Sarcotubular myopathy +3 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)	not provided +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)	Bardet-Biedl syndrome +2 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 +3 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 provided +4 more	GConflicting classifications of pathogenicity
Select item 1161357	NM_012210.4(TRIM32):c.474A>G (p.Glu158=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +2 more	GLikely benign
Select item 645718	NM_012210.4(TRIM32):c.479T>C (p.Met160Thr)	ASTN2, TRIM32 (M160T)	Single nucleotide variant (missense variant +1 more)	not provided +4 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)	not provided +3 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 +3 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)	Bardet-Biedl syndrome +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 965464	NM_012210.4(TRIM32):c.494G>T (p.Arg165Leu)	ASTN2, TRIM32 (R165L)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GUncertain significance
Select item 502143	NM_012210.4(TRIM32):c.496C>T (p.Arg166Trp)	ASTN2, TRIM32 (R166W)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
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 +4 more	GUncertain significance
Select item 285831	NM_012210.4(TRIM32):c.524A>G (p.Lys175Arg)	ASTN2, TRIM32 (K175R)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	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 860718	NM_012210.4(TRIM32):c.578G>A (p.Arg193His)	ASTN2, TRIM32 (R193H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +4 more	GUncertain significance
Select item 1339327	NM_012210.4(TRIM32):c.601C>T (p.Arg201Cys)	ASTN2, TRIM32 (R201C)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 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 +3 more	GUncertain significance
Select item 567015	NM_012210.4(TRIM32):c.688A>G (p.Ile230Val)	ASTN2, TRIM32 (I230V)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +3 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 +2 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)	Sarcotubular myopathy +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 568344	NM_012210.4(TRIM32):c.863C>A (p.Pro288His)	ASTN2, TRIM32 (P288H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 290478	NM_012210.4(TRIM32):c.873T>G (p.Ile291Met)	ASTN2, TRIM32 (I291M)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome 11 +3 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)	Sarcotubular myopathy +3 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)	not provided +3 more	GUncertain significance
Select item 195279	NM_012210.4(TRIM32):c.938C>T (p.Ala313Val)	ASTN2, TRIM32 (A313V)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
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 999138	NM_012210.4(TRIM32):c.973A>G (p.Met325Val)	ASTN2, TRIM32 (M325V)	Single nucleotide variant (missense variant +1 more)	not provided +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)	Bardet-Biedl syndrome +3 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 +2 more	GUncertain significance
Select item 284059	NM_012210.4(TRIM32):c.986C>T (p.Pro329Leu)	ASTN2, TRIM32 (P329L)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
Select item 285713	NM_012210.4(TRIM32):c.1004G>A (p.Ser335Asn)	ASTN2, TRIM32 (S335N)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 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)	Inborn genetic diseases +4 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 +3 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 11 +2 more	GUncertain significance
Select item 1473156	NM_012210.4(TRIM32):c.1115A>G (p.Asn372Ser)	ASTN2, TRIM32 (N372S)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +2 more	GUncertain significance
Select item 597209	NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs)	ASTN2, TRIM32 (Y378fs)	Microsatellite (frameshift variant +1 more)	Sarcotubular myopathy +2 more	GPathogenic/Likely pathogenic
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 451845	NM_012210.4(TRIM32):c.1168C>T (p.Arg390Cys)	ASTN2, TRIM32 (R390C)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 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 +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 284781	NM_012210.4(TRIM32):c.1223G>A (p.Arg408His)	ASTN2, TRIM32 (R408H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 697113	NM_012210.4(TRIM32):c.1275T>C (p.Asp425=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Sarcotubular myopathy +3 more	GBenign/Likely benign
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 +2 more	GUncertain significance
Select item 283944	NM_012210.4(TRIM32):c.1354C>T (p.Leu452Phe)	TRIM32, ASTN2 (L452F)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +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)	not provided +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 7352	NM_012210.4(TRIM32):c.1560del (p.Cys521fs)	ASTN2, TRIM32 (C521fs)	Deletion (frameshift variant +1 more)	Sarcotubular myopathy +3 more	GPathogenic/Likely pathogenic
Select item 286257	NM_012210.4(TRIM32):c.1579G>A (p.Val527Ile)	ASTN2, TRIM32 (V527I)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 699313	NM_012210.4(TRIM32):c.1609C>T (p.Leu537=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Sarcotubular myopathy +2 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 +2 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 +2 more	GUncertain significance
Select item 514026	NM_012210.4(TRIM32):c.1623G>A (p.Gln541=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +3 more	GLikely benign
Select item 288854	NM_012210.4(TRIM32):c.1648T>C (p.Phe550Leu)	ASTN2, TRIM32 (F550L)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +4 more	GUncertain significance
Select item 1080174	NM_012210.4(TRIM32):c.1728C>T (p.Arg576=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +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 289050	NM_012210.4(TRIM32):c.1786C>T (p.Arg596Cys)	ASTN2, TRIM32 (R596C)	Single nucleotide variant (missense variant +1 more)	not provided +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)	Bardet-Biedl syndrome +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 195282	NM_012210.4(TRIM32):c.1954A>G (p.Thr652Ala)	ASTN2, TRIM32 (T652A)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GUncertain significance
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

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Items: 85