TASOR[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 60057	GRCh38/hg38 3p21.1-14.3(chr3:53287477-57025368)x1	ACTR8, ARHGEF3 +53 more	Copy number loss	See cases	GUncertain significance
Select item 57386	GRCh38/hg38 3p21.1-14.1(chr3:54045018-66060461)x1	ABHD6, ACOX2 +218 more	Copy number loss	See cases	GPathogenic
Select item 2471642	NM_001141947.3(CCDC66):c.2810C>T (p.Ala937Val)	CCDC66, TASOR (A903V +11 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3139282	NM_001141947.3(CCDC66):c.2816A>C (p.Asn939Thr)	CCDC66, TASOR (N916T +11 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 774299	NM_001141947.3(CCDC66):c.2825_2828dup (p.Ser943fs)	CCDC66, TASOR (S579fs +11 more)	Microsatellite (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2366331	NM_001141947.3(CCDC66):c.2824G>A (p.Glu942Lys)	CCDC66, TASOR (E643K +11 more)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2545127	NM_001365635.2(TASOR):c.4473G>C (p.Glu1491Asp)	TASOR (E1054D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174194	NM_001365635.2(TASOR):c.4409T>C (p.Val1470Ala)	TASOR (V1033A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595962	NM_001365635.2(TASOR):c.4376C>T (p.Ala1459Val)	TASOR (A1459V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174193	NM_001365635.2(TASOR):c.4372A>G (p.Thr1458Ala)	TASOR (T1021A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174192	NM_001365635.2(TASOR):c.4223A>G (p.Asn1408Ser)	TASOR (N1408S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324514	NM_001365635.2(TASOR):c.4186C>A (p.Gln1396Lys)	TASOR (Q959K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174191	NM_001365635.2(TASOR):c.4043A>T (p.Asn1348Ile)	TASOR (N911I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174190	NM_001365635.2(TASOR):c.4004T>C (p.Ile1335Thr)	TASOR (I1294T +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174189	NM_001365635.2(TASOR):c.3991T>C (p.Ser1331Pro)	TASOR (S1331P +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174188	NM_001365635.2(TASOR):c.3967T>C (p.Phe1323Leu)	TASOR (F1282L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174187	NM_001365635.2(TASOR):c.3955T>C (p.Tyr1319His)	TASOR (Y1278H +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554511	NM_001365635.2(TASOR):c.3895A>C (p.Lys1299Gln)	TASOR (K1258Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174186	NM_001365635.2(TASOR):c.3778T>C (p.Cys1260Arg)	TASOR (C1260R +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324513	NM_001365635.2(TASOR):c.3723G>T (p.Glu1241Asp)	TASOR (E1200D +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324510	NM_001365635.2(TASOR):c.3551G>A (p.Arg1184Gln)	TASOR (R1143Q +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324511	NM_001365635.2(TASOR):c.3550C>T (p.Arg1184Trp)	TASOR (R1184W +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2463482	NM_001365635.2(TASOR):c.3545T>C (p.Met1182Thr)	TASOR (M1121T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174185	NM_001365635.2(TASOR):c.3530T>C (p.Ile1177Thr)	TASOR (I1116T +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174184	NM_001365635.2(TASOR):c.3416G>A (p.Ser1139Asn)	TASOR (S1098N +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485812	NM_001365635.2(TASOR):c.3355C>T (p.His1119Tyr)	TASOR (H1119Y +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466608	NM_001365635.2(TASOR):c.3302C>T (p.Pro1101Leu)	TASOR (P1060L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174183	NM_001365635.2(TASOR):c.3226G>A (p.Glu1076Lys)	TASOR (E1035K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174182	NM_001365635.2(TASOR):c.3187G>A (p.Glu1063Lys)	TASOR (E626K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610192	NM_001365635.2(TASOR):c.3130G>A (p.Val1044Ile)	TASOR (V983I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2596816	NM_001365635.2(TASOR):c.3094A>G (p.Ile1032Val)	TASOR (I1032V +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2523451	NM_001365635.2(TASOR):c.3043G>A (p.Glu1015Lys)	TASOR (E954K +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174181	NM_001365635.2(TASOR):c.2966C>G (p.Thr989Ser)	TASOR (T552S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174180	NM_001365635.2(TASOR):c.2924A>T (p.Gln975Leu)	TASOR (Q975L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 788971	NM_001365635.2(TASOR):c.2923C>A (p.Gln975Lys)	TASOR (Q975K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 3324515	NM_001365635.2(TASOR):c.2822C>G (p.Pro941Arg)	TASOR (P941R +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174179	NM_001365635.2(TASOR):c.2788G>A (p.Asp930Asn)	TASOR (D930N +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174178	NM_001365635.2(TASOR):c.2696G>A (p.Arg899His)	TASOR (R899H +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174177	NM_001365635.2(TASOR):c.2654A>G (p.Asp885Gly)	TASOR (D885G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174176	NM_001365635.2(TASOR):c.2498T>C (p.Val833Ala)	TASOR (V833A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2556068	NM_001365635.2(TASOR):c.2489G>T (p.Cys830Phe)	TASOR (C434F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174175	NM_001365635.2(TASOR):c.2483C>A (p.Pro828His)	TASOR (P432H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174174	NM_001365635.2(TASOR):c.2459C>T (p.Pro820Leu)	TASOR (P424L +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174173	NM_001365635.2(TASOR):c.2362T>C (p.Ser788Pro)	TASOR (S392P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174172	NM_001365635.2(TASOR):c.2339C>T (p.Ala780Val)	TASOR (A384V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174171	NM_001365635.2(TASOR):c.2316T>G (p.Phe772Leu)	TASOR (F376L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489876	NM_001365635.2(TASOR):c.2293A>T (p.Ile765Phe)	TASOR (I369F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550481	NM_001365635.2(TASOR):c.2278A>G (p.Thr760Ala)	TASOR (T364A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174169	NM_001365635.2(TASOR):c.2230A>T (p.Ile744Phe)	TASOR (I744F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174168	NM_001365635.2(TASOR):c.2230A>G (p.Ile744Val)	TASOR (I348V +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3174167	NM_001365635.2(TASOR):c.2228C>G (p.Pro743Arg)	TASOR (P347R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525604	NM_001365635.2(TASOR):c.2213A>G (p.Glu738Gly)	TASOR (E738G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174166	NM_001365635.2(TASOR):c.1992A>G (p.Ile664Met)	TASOR (I664M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174165	NM_001365635.2(TASOR):c.1964G>A (p.Arg655Gln)	TASOR (R259Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174164	NM_001365635.2(TASOR):c.1895T>G (p.Phe632Cys)	TASOR (F236C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174163	NM_001365635.2(TASOR):c.1888C>A (p.Gln630Lys)	TASOR (Q234K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174162	NM_001365635.2(TASOR):c.1645A>G (p.Asn549Asp)	TASOR (N549D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174161	NM_001365635.2(TASOR):c.1639G>A (p.Ala547Thr)	TASOR (A547T +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3324512	NM_001365635.2(TASOR):c.1453G>T (p.Ala485Ser)	TASOR (A89S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174159	NM_001365635.2(TASOR):c.1400A>G (p.Tyr467Cys)	TASOR (Y71C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174158	NM_001365635.2(TASOR):c.1317A>C (p.Arg439Ser)	TASOR (R43S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174157	NM_001365635.2(TASOR):c.1177G>T (p.Val393Phe)	TASOR (V393F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174156	NM_001365635.2(TASOR):c.1094A>G (p.Asn365Ser)	TASOR (N365S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3174196	NM_001365635.2(TASOR):c.715G>A (p.Val239Ile)	TASOR (V239I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3174195	NM_001365635.2(TASOR):c.464T>C (p.Leu155Pro)	TASOR (L155P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 788095	NM_001365635.2(TASOR):c.384T>C (p.Asn128=)	TASOR	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 487784	NM_001365635.2(TASOR):c.97G>A (p.Glu33Lys)	TASOR (E33K)	Single nucleotide variant (missense variant)	Ependymoma	GUncertain significance
Select item 3062680	GRCh37/hg19 3p21.2-14.2(chr3:51149374-59265315)x1	ABHD14A, ABHD14B +86 more	Copy number loss	not specified	GPathogenic
Select item 2685920	GRCh37/hg19 3p14.3(chr3:56317848-56658135)x3	CCDC66, ERC2 +1 more	Copy number gain	not provided	GUncertain significance
Select item 2685080	GRCh37/hg19 3p14.3(chr3:56258725-57386154)x1	APPL1, ARHGEF3 +8 more	Copy number loss	not provided	GUncertain significance
Select item 443590	GRCh37/hg19 3p14.3(chr3:56672669-57214979)x3	ARHGEF3, IL17RD +2 more	Copy number gain	See cases	GUncertain significance
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 253632	GRCh37/hg19 3p21.2-14.2(chr3:52086599-59689209)x1	ABHD6, ACOX2 +66 more	Copy number loss	See cases	GPathogenic

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Items: 74