"GeneDx"[submitter] AND "ASTN2"[gene] - ClinVar

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Items: 60

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58483	GRCh38/hg38 9q33.1(chr9:116588311-117510401)x3	ASTN2, LOC126860748 +6 more	Copy number gain	See cases	GUncertain significance
Select item 1195170	NC_000009.12:g.116687228G>T	ASTN2, LOC130002464 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 364712	NM_012210.4(TRIM32):c.-133G>C	ASTN2, TRIM32	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 511757	NM_012210.4(TRIM32):c.-94C>T	ASTN2, LOC130002465 +1 more	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 1220919	NM_012210.4(TRIM32):c.-82+86C>T	ASTN2, LOC130002465 +1 more	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188514	NM_012210.4(TRIM32):c.-81-291A>G	ASTN2, TRIM32	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 674433	NM_012210.4(TRIM32):c.-81-98G>A	ASTN2, TRIM32	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 284296	NM_012210.4(TRIM32):c.6T>G (p.Ala2=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1312887	NM_012210.4(TRIM32):c.40C>G (p.Leu14Val)	ASTN2, TRIM32 (L14V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1305942	NM_012210.4(TRIM32):c.112C>T (p.His38Tyr)	ASTN2, TRIM32 (H38Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 282441	NM_012210.4(TRIM32):c.201T>C (p.Ile67=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	not provided +1 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)	Sarcotubular myopathy +3 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)	Sarcotubular myopathy +3 more	GUncertain significance
Select item 507205	NM_012210.4(TRIM32):c.366C>G (p.Pro122=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	not specified +1 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 +3 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)	Bardet-Biedl syndrome 11 +3 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 +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 95498	NM_012210.4(TRIM32):c.501G>A (p.Lys167=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	not provided +2 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 +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)	Sarcotubular myopathy +4 more	GConflicting classifications of pathogenicity
Select item 382743	NM_012210.4(TRIM32):c.603C>T (p.Arg201=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 386978	NM_012210.4(TRIM32):c.660G>A (p.Val220=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 381977	NM_012210.4(TRIM32):c.699G>C (p.Val233=)	TRIM32, ASTN2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 432022	NM_012210.4(TRIM32):c.700C>T (p.Gln234Ter)	ASTN2, TRIM32 (Q234*)	Single nucleotide variant (nonsense +1 more)	not provided	GLikely pathogenic
Select item 1700400	NM_012210.4(TRIM32):c.712C>T (p.Arg238Cys)	ASTN2, TRIM32 (R238C)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 260216	NM_012210.4(TRIM32):c.770C>G (p.Thr257Arg)	ASTN2, TRIM32 (T257R)	Single nucleotide variant (missense variant +1 more)	not specified +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)	not provided +4 more	GUncertain significance
Select item 387863	NM_012210.4(TRIM32):c.882T>C (p.Ala294=)	TRIM32, ASTN2	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 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 386894	NM_012210.4(TRIM32):c.1068C>T (p.Leu356=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 462946	NM_012210.4(TRIM32):c.1108del (p.Met370fs)	ASTN2, TRIM32 (M370fs)	Deletion (frameshift variant +1 more)	Bardet-Biedl syndrome +1 more	GPathogenic/Likely pathogenic
Select item 195284	NM_012210.4(TRIM32):c.1134C>T (p.Tyr378=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1328822	NM_012210.4(TRIM32):c.1143T>G (p.Ser381Arg)	ASTN2, TRIM32 (S381R)	Single nucleotide variant (missense 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 +3 more	GUncertain significance
Select item 516022	NM_012210.4(TRIM32):c.1194T>C (p.Phe398=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GLikely benign
Select item 100583	NM_012210.4(TRIM32):c.1222C>T (p.Arg408Cys)	ASTN2, TRIM32 (R408C)	Single nucleotide variant (missense variant +1 more)	not provided +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)	Bardet-Biedl syndrome +3 more	GUncertain significance
Select item 95494	NM_012210.4(TRIM32):c.1226G>A (p.Arg409His)	ASTN2, TRIM32 (R409H)	Single nucleotide variant (missense variant +1 more)	not provided +1 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 provided +4 more	GBenign
Select item 1190303	NM_012210.4(TRIM32):c.1416A>G (p.Pro472=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 2499778	NM_012210.4(TRIM32):c.1472G>T (p.Gly491Val)	ASTN2, TRIM32 (G491V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 392538	NM_012210.4(TRIM32):c.1503A>G (p.Gly501=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
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 509288	NM_012210.4(TRIM32):c.1662T>C (p.Ser554=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	Bardet-Biedl syndrome +1 more	GLikely benign
Select item 260215	NM_012210.4(TRIM32):c.1710G>A (p.Ser570=)	ASTN2, TRIM32	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 452410	NM_012210.4(TRIM32):c.1786C>G (p.Arg596Gly)	ASTN2, TRIM32 (R596G)	Single nucleotide variant (missense variant +1 more)	Bardet-Biedl syndrome +1 more	GUncertain significance
Select item 450273	NM_012210.4(TRIM32):c.1930A>G (p.Ser644Gly)	ASTN2, TRIM32 (S644G)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	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
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 364729	NM_012210.4(TRIM32):c.*589G>A	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GBenign
Select item 364730	NM_012210.4(TRIM32):c.*692C>G	TRIM32, ASTN2	Single nucleotide variant (3 prime UTR variant +1 more)	Bardet-Biedl syndrome 11 +2 more	GConflicting classifications of pathogenicity
Select item 912894	NM_012210.4(TRIM32):c.*845C>T	ASTN2, TRIM32	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GBenign
Select item 58484	GRCh38/hg38 9q33.1(chr9:116716155-117646662)x3	ASTN2, LOC126860748 +2 more	Copy number gain	See cases	GUncertain significance
Select item 151949	GRCh38/hg38 9q33.1(chr9:116739079-116814248)x1	ASTN2	Copy number loss	See cases	GLikely benign
Select item 1248446	NM_001365068.1(ASTN2):c.1482G>A (p.Pro494=)	ASTN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1296977	NM_001365068.1(ASTN2):c.1424-13C>T	ASTN2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 253796	GRCh37/hg19 9q33.1(chr9:119449044-119952215)x1	TRIM32, ASTN2	Copy number loss	See cases	GUncertain significance
Select item 253402	GRCh37/hg19 9p24.3-q34.3(chr9:163131-141122114)x3	ABCA1, ABCA2 +771 more	Copy number gain	See cases	GPathogenic

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Items: 60