ClinVar for Gene (Select 23272) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 788971	NM_001365635.2(TASOR):c.2923C>A (p.Gln975Lys)	TASOR (Q975K)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 788095	NM_001365635.2(TASOR):c.384T>C (p.Asn128=)	TASOR	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 487784	NM_001365635.2(TASOR):c.97G>A (p.Glu33Lys)	TASOR (E33K)	Single nucleotide variant (missense variant)	Ependymoma	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
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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 74