DTX2[gene] - ClinVar

Search results

Items: 92

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 60237	GRCh38/hg38 7q11.22-11.23(chr7:69382353-77823832)x1	SPDYE12, SPDYE13 +330 more	Copy number loss	See cases	GPathogenic
Select item 57096	GRCh38/hg38 7q11.22-21.11(chr7:71225344-81735657)x1	ABHD11, ABHD11-AS1 +317 more	Copy number loss	See cases	GPathogenic
Select item 155387	GRCh38/hg38 7q11.22-21.11(chr7:72179092-79164071)	ABHD11, ABHD11-AS1 +285 more	Copy number gain	See cases	GLikely pathogenic
Select item 144156	GRCh38/hg38 7q11.23(chr7:73352304-76722261)x1	LOC129998696, LOC129998697 +219 more	Copy number loss	See cases	GPathogenic
Select item 60244	GRCh38/hg38 7q11.23-21.11(chr7:73873420-83988860)x1	APTR, CACNA2D1 +249 more	Copy number loss	See cases	GPathogenic
Select item 154313	GRCh38/hg38 7q11.23-21.11(chr7:74377395-82031742)x1	APTR, CACNA2D1 +194 more	Copy number loss	See cases	GPathogenic
Select item 1342322	NC_000007.14:g.(75058300_?)_(?_79083658)del	APTR, CCDC146 +126 more	Deletion	Distal 7q11.23 microdeletion syndrome	GPathogenic
Select item 60279	GRCh38/hg38 7q11.23-21.11(chr7:75496701-78375575)x1	APTR, CCDC146 +109 more	Copy number loss	See cases	GPathogenic
Select item 57573	GRCh38/hg38 7q11.23(chr7:75526437-76499472)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 146877	GRCh38/hg38 7q11.23(chr7:75529854-76611483)x1	CCL24, CCL26 +65 more	Copy number loss	See cases	GPathogenic
Select item 146678	GRCh38/hg38 7q11.23(chr7:75529854-76626561)x3	CCL24, CCL26 +65 more	Copy number gain	See cases	GUncertain significance
Select item 147350	GRCh38/hg38 7q11.23(chr7:75568161-76584760)x1	CCL24, CCL26 +63 more	Copy number loss	See cases	GUncertain significance
Select item 153077	GRCh38/hg38 7q11.23(chr7:76322093-76473764)x1	DTX2, FPASL +8 more	Copy number loss	See cases	GBenign
Select item 148376	GRCh38/hg38 7q11.23-21.11(chr7:76440557-78180243)x3	APTR, CCDC146 +45 more	Copy number gain	See cases	GUncertain significance
Select item 3086111	NM_001102594.3(DTX2):c.34G>A (p.Val12Met)	DTX2 (V12M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407575	NM_001102594.3(DTX2):c.89C>T (p.Thr30Ile)	DTX2 (T30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303825	NM_001102594.3(DTX2):c.103A>G (p.Ser35Gly)	DTX2 (S35G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252248	NM_001102594.3(DTX2):c.112G>A (p.Val38Ile)	DTX2 (V38I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2368679	NM_001102594.3(DTX2):c.162T>G (p.Phe54Leu)	DTX2 (F54L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2536875	NM_001102594.3(DTX2):c.193T>G (p.Leu65Val)	DTX2 (L65V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515474	NM_001102594.3(DTX2):c.256C>T (p.Arg86Cys)	DTX2 (R86C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086109	NM_001102594.3(DTX2):c.265A>C (p.Thr89Pro)	DTX2 (T89P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611214	NM_001102594.3(DTX2):c.293A>G (p.His98Arg)	DTX2 (H98R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2286527	NM_001102594.3(DTX2):c.331G>A (p.Val111Ile)	DTX2 (V111I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086110	NM_001102594.3(DTX2):c.349G>A (p.Asp117Asn)	DTX2 (D117N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569614	NM_001102594.3(DTX2):c.405G>T (p.Gln135His)	DTX2 (Q135H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2673110	NM_001102594.3(DTX2):c.426C>T (p.Leu142=)	DTX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3273971	NM_001102594.3(DTX2):c.437C>A (p.Ala146Asp)	DTX2 (A146D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287542	NM_001102594.3(DTX2):c.464A>G (p.Asn155Ser)	DTX2 (N155S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380616	NM_001102594.3(DTX2):c.469A>G (p.Thr157Ala)	DTX2 (T157A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3086112	NM_001102594.3(DTX2):c.500G>T (p.Ser167Ile)	DTX2 (S167I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589413	NM_001102594.3(DTX2):c.520C>T (p.Arg174Cys)	DTX2 (R174C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086113	NM_001102594.3(DTX2):c.521G>A (p.Arg174His)	DTX2 (R174H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519439	NM_001102594.3(DTX2):c.559G>T (p.Ala187Ser)	DTX2 (A187S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248891	NM_001102594.3(DTX2):c.566C>T (p.Pro189Leu)	DTX2 (P189L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245445	NM_001102594.3(DTX2):c.620C>T (p.Thr207Ile)	DTX2 (T207I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2512219	NM_001102594.3(DTX2):c.628G>A (p.Val210Met)	DTX2 (V210M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086115	NM_001102594.3(DTX2):c.637C>T (p.Arg213Cys)	DTX2 (R213C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086114	NM_001102594.3(DTX2):c.637C>G (p.Arg213Gly)	DTX2 (R213G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396631	NM_001102594.3(DTX2):c.647A>G (p.His216Arg)	DTX2 (H216R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552562	NM_001102594.3(DTX2):c.656C>T (p.Thr219Ile)	DTX2 (T219I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086116	NM_001102594.3(DTX2):c.685C>G (p.His229Asp)	DTX2 (H229D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657626	NM_001102594.3(DTX2):c.690C>T (p.Pro230=)	DTX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2286057	NM_001102594.3(DTX2):c.694C>T (p.His232Tyr)	DTX2 (H232Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273969	NM_001102594.3(DTX2):c.710T>G (p.Val237Gly)	DTX2 (V237G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086118	NM_001102594.3(DTX2):c.737C>T (p.Pro246Leu)	DTX2 (P246L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478241	NM_001102594.3(DTX2):c.749C>T (p.Pro250Leu)	DTX2 (P250L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353842	NM_001102594.3(DTX2):c.760G>A (p.Gly254Arg)	DTX2 (G254R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273967	NM_001102594.3(DTX2):c.805G>A (p.Ala269Thr)	DTX2 (A269T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273968	NM_001102594.3(DTX2):c.835C>A (p.Leu279Ile)	DTX2 (L279I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351458	NM_001102594.3(DTX2):c.842G>A (p.Arg281His)	DTX2 (R281H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477856	NM_001102594.3(DTX2):c.866C>A (p.Pro289Gln)	DTX2 (P289Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086119	NM_001102594.3(DTX2):c.934A>C (p.Ser312Arg)	DTX2 (S312R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086106	NM_001102594.3(DTX2):c.1060C>T (p.Arg354Cys)	DTX2 (R354C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2381688	NM_001102594.3(DTX2):c.1061G>A (p.Arg354His)	DTX2 (R354H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3086107	NM_001102594.3(DTX2):c.1063G>A (p.Ala355Thr)	DTX2 (A355T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2605665	NM_001102594.3(DTX2):c.1165C>G (p.Pro389Ala)	DTX2 (P342A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086108	NM_001102594.3(DTX2):c.1193A>G (p.Lys398Arg)	DTX2 (K351R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2329586	NM_001102594.3(DTX2):c.1238T>A (p.Ile413Asn)	DTX2 (I366N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768164	NM_001102594.3(DTX2):c.1266G>A (p.Ala422=)	DTX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2525809	NM_001102594.3(DTX2):c.1304G>T (p.Gly435Val)	DTX2 (G435V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458372	NM_001102594.3(DTX2):c.1306T>C (p.Ser436Pro)	DTX2 (S389P +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2363563	NM_001102594.3(DTX2):c.1322A>G (p.His441Arg)	DTX2 (H441R +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2619342	NM_001102594.3(DTX2):c.1343C>T (p.Ala448Val)	DTX2 (A401V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371246	NM_001102594.3(DTX2):c.1378A>G (p.Asn460Asp)	DTX2 (N460D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734656	NM_001102594.3(DTX2):c.1390-5G>C	DTX2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3273970	NM_001102594.3(DTX2):c.1439C>T (p.Thr480Met)	DTX2 (T480M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776233	NM_001102594.3(DTX2):c.1452C>G (p.Pro484=)	DTX2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2480218	NM_001102594.3(DTX2):c.1498C>T (p.His500Tyr)	DTX2 (H453Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323428	NM_001102594.3(DTX2):c.1544G>A (p.Gly515Asp)	DTX2 (G515D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768165	NM_001102594.3(DTX2):c.1545T>C (p.Gly515=)	DTX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2657627	NM_001102594.3(DTX2):c.1572C>G (p.Pro524=)	DTX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2209334	NM_001102594.3(DTX2):c.1603C>T (p.Arg535Cys)	DTX2 (R488C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2657628	NM_001102594.3(DTX2):c.1626C>T (p.Asn542=)	DTX2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 157059	CM000669.1:g.76134203_76144560dup	DTX2, UPK3B	Duplication	Large for gestational age	Gnot provided
Select item 2329351	NM_001102594.3(DTX2):c.1783G>A (p.Gly595Ser)	DTX2 (G595S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619173	NM_001102594.3(DTX2):c.1814T>C (p.Val605Ala)	DTX2 (V558A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 979622	GRCh37/hg19 7q11.23(chr7:72403117-76709600)x1	TBL2, TMEM120A +50 more	Copy number loss	not provided	GPathogenic
Select item 687818	GRCh37/hg19 7q11.23(chr7:75091878-76117614)x1	CCL24, CCL26 +14 more	Copy number loss	not provided	GUncertain significance
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 563383	GRCh37/hg19 7q11.23(chr7:75384846-76279036)x3	STYXL1, CCL24 +12 more	Copy number gain	not provided	GUncertain significance
Select item 560111	Single allele	CACNA2D1, ERVW-1 +91 more	Deletion	not provided	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395318	GRCh37/hg19 7q11.23(chr7:76132879-76144695)x3	DTX2	Copy number gain	See cases	GBenign
Select item 394829	GRCh37/hg19 7q11.23(chr7:76069874-76144695)x3	DTX2, ZP3	Copy number gain	See cases	GBenign
Select item 394168	GRCh37/hg19 7q11.23(chr7:76123879-76144695)x3	DTX2	Copy number gain	See cases	GBenign
Select item 242972	NC_000007.13:g.(20954043_21001537)_(114528369_114556605)inv	ARMC10, ASB4 +504 more	Inversion	Childhood apraxia of speech	GPathogenic

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Items: 92