"Revvity Omics, Revvity"[submitter] AND "ASTN2"[gene] - ClinVar

Search results

Items: 76

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 288819	NM_012210.4(TRIM32):c.24C>A (p.His8Gln)	TRIM32, ASTN2 (H8Q)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 653096	NM_012210.4(TRIM32):c.43C>T (p.Arg15Trp)	ASTN2, TRIM32 (R15W)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 851419	NM_012210.4(TRIM32):c.97C>T (p.Arg33Cys)	ASTN2, TRIM32 (R33C)	Single nucleotide variant (missense variant +1 more)	not provided +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)	Sarcotubular myopathy +5 more	GUncertain significance
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 +4 more	GUncertain significance
Select item 2437268	NM_012210.4(TRIM32):c.265G>T (p.Ala89Ser)	ASTN2, TRIM32 (A89S)	Single nucleotide variant (missense variant +1 more)	not provided	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 859588	NM_012210.4(TRIM32):c.280G>A (p.Ala94Thr)	ASTN2, TRIM32 (A94T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1047448	NM_012210.4(TRIM32):c.284T>C (p.Val95Ala)	ASTN2, TRIM32 (V95A)	Single nucleotide variant (missense variant +1 more)	not provided +1 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)	not provided +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 411140	NM_012210.4(TRIM32):c.337C>T (p.Arg113Trp)	ASTN2, TRIM32 (R113W)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 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)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 2083182	NM_012210.4(TRIM32):c.381C>G (p.Asp127Glu)	ASTN2, TRIM32 (D127E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2434240	NM_012210.4(TRIM32):c.385C>T (p.Gln129Ter)	ASTN2, TRIM32 (Q129*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
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 2437269	NM_012210.4(TRIM32):c.395G>A (p.Gly132Asp)	ASTN2, TRIM32 (G132D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2143757	NM_012210.4(TRIM32):c.410C>T (p.Pro137Leu)	ASTN2, TRIM32 (P137L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1343638	NM_012210.4(TRIM32):c.463C>T (p.Arg155Cys)	ASTN2, TRIM32 (R155C)	Single nucleotide variant (missense variant +1 more)	not specified +1 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 2058636	NM_012210.4(TRIM32):c.469C>T (p.Arg157Trp)	ASTN2, TRIM32 (R157W)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2437275	NM_012210.4(TRIM32):c.470G>A (p.Arg157Gln)	ASTN2, TRIM32 (R157Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690265	NM_012210.4(TRIM32):c.496C>G (p.Arg166Gly)	ASTN2, TRIM32 (R166G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 502143	NM_012210.4(TRIM32):c.496C>T (p.Arg166Trp)	ASTN2, TRIM32 (R166W)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +4 more	GUncertain significance
Select item 501029	NM_012210.4(TRIM32):c.497G>A (p.Arg166Gln)	ASTN2, TRIM32 (R166Q)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 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 +5 more	GUncertain significance
Select item 2437273	NM_012210.4(TRIM32):c.646T>C (p.Ser216Pro)	ASTN2, TRIM32 (S216P)	Single nucleotide variant (missense variant +1 more)	not provided	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 2437276	NM_012210.4(TRIM32):c.713G>A (p.Arg238His)	ASTN2, TRIM32 (R238H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2690266	NM_012210.4(TRIM32):c.768G>T (p.Glu256Asp)	ASTN2, TRIM32 (E256D)	Single nucleotide variant (missense variant +1 more)	not provided	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 1430727	NM_012210.4(TRIM32):c.899C>T (p.Thr300Ile)	ASTN2, TRIM32 (T300I)	Single nucleotide variant (missense variant +1 more)	not provided +1 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 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 2437274	NM_012210.4(TRIM32):c.983G>T (p.Ser328Ile)	ASTN2, TRIM32 (S328I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 284059	NM_012210.4(TRIM32):c.986C>T (p.Pro329Leu)	TRIM32, ASTN2 (P329L)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +3 more	GUncertain significance
Select item 2437272	NM_012210.4(TRIM32):c.1001C>T (p.Ala334Val)	ASTN2, TRIM32 (A334V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 285713	NM_012210.4(TRIM32):c.1004G>A (p.Ser335Asn)	ASTN2, TRIM32 (S335N)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +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)	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 501836	NM_012210.4(TRIM32):c.1093G>A (p.Gly365Ser)	ASTN2, TRIM32 (G365S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 462946	NM_012210.4(TRIM32):c.1108del (p.Met370fs)	ASTN2, TRIM32 (M370fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 289168	NM_012210.4(TRIM32):c.1124T>G (p.Val375Gly)	ASTN2, TRIM32 (V375G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 282157	NM_012210.4(TRIM32):c.1162G>A (p.Ala388Thr)	ASTN2, TRIM32 (A388T)	Single nucleotide variant (intron variant +1 more)	not provided +1 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 1035639	NM_012210.4(TRIM32):c.1169G>A (p.Arg390His)	ASTN2, TRIM32 (R390H)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 2434235	NM_012210.4(TRIM32):c.1194dup (p.Thr399fs)	ASTN2, TRIM32 (T399fs)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
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 2437271	NM_012210.4(TRIM32):c.1258A>G (p.Ser420Gly)	ASTN2, TRIM32 (S420G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 283944	NM_012210.4(TRIM32):c.1354C>T (p.Leu452Phe)	TRIM32, ASTN2 (L452F)	Single nucleotide variant (missense variant +1 more)	Sarcotubular myopathy +3 more	GUncertain significance
Select item 946462	NM_012210.4(TRIM32):c.1361T>C (p.Val454Ala)	ASTN2, TRIM32 (V454A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2434251	NM_012210.4(TRIM32):c.1378del (p.His460fs)	ASTN2, TRIM32 (H460fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
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 7350	NM_012210.4(TRIM32):c.1459G>A (p.Asp487Asn)	ASTN2, TRIM32 (D487N)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GPathogenic
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 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)	Bardet-Biedl syndrome 11 +3 more	GPathogenic/Likely pathogenic
Select item 2434245	NM_012210.4(TRIM32):c.1584C>G (p.Tyr528Ter)	ASTN2, TRIM32 (Y528*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 2434248	NM_012210.4(TRIM32):c.1612G>T (p.Glu538Ter)	ASTN2, TRIM32 (E538*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 288854	NM_012210.4(TRIM32):c.1648T>C (p.Phe550Leu)	ASTN2, TRIM32 (F550L)	Single nucleotide variant (missense variant +1 more)	not provided +4 more	GUncertain significance
Select item 2124970	NM_012210.4(TRIM32):c.1768A>G (p.Ile590Val)	ASTN2, TRIM32 (I590V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
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 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 2437270	NM_012210.4(TRIM32):c.1819G>A (p.Gly607Ser)	ASTN2, TRIM32 (G607S)	Single nucleotide variant (missense variant +1 more)	not provided	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 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 940503	NM_012210.4(TRIM32):c.1855C>T (p.Pro619Ser)	ASTN2, TRIM32 (P619S)	Single nucleotide variant (missense variant +1 more)	not provided +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
Select item 598557	NM_012210.4(TRIM32):c.1957C>T (p.Pro653Ser)	ASTN2, TRIM32 (P653S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2437267	NM_012210.4(TRIM32):c.1960T>C (p.Ter654Gln)	ASTN2, TRIM32	Single nucleotide variant (stop lost +1 more)	not provided	GUncertain significance
Select item 95493	NM_012210.4(TRIM32):c.*1G>A	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GConflicting classifications of pathogenicity

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Items: 76