DTX1[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 2623148	NM_004416.3(DTX1):c.64G>T (p.Val22Leu)	DTX1 (V22L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2616599	NM_004416.3(DTX1):c.125C>T (p.Ala42Val)	DTX1 (A42V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352663	NM_004416.3(DTX1):c.172G>A (p.Gly58Ser)	DTX1 (G58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681251	NM_004416.3(DTX1):c.204G>C (p.Gln68His)	DTX1 (Q68H)	Single nucleotide variant (missense variant)	EBV-positive nodal T- and NK-cell lymphoma	GLikely benign
Select item 2246478	NM_004416.3(DTX1):c.248G>A (p.Arg83His)	DTX1 (R83H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768587	NM_004416.3(DTX1):c.303G>T (p.Ser101=)	DTX1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2409192	NM_004416.3(DTX1):c.343G>T (p.Gly115Cys)	DTX1 (G115C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206786	NM_004416.3(DTX1):c.460A>T (p.Asn154Tyr)	DTX1 (N154Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 155465	GRCh38/hg38 12q24.13-24.21(chr12:113077775-114372366)x1	CFAP73, DDX54 +68 more	Copy number loss	See cases	GPathogenic
Select item 2358591	NM_004416.3(DTX1):c.677C>A (p.Ala226Glu)	DTX1 (A226E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330038	NM_004416.3(DTX1):c.692C>T (p.Pro231Leu)	DTX1 (P231L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2600160	NM_004416.3(DTX1):c.709C>T (p.Pro237Ser)	DTX1 (P237S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385243	NM_004416.3(DTX1):c.766G>T (p.Ala256Ser)	DTX1 (A256S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2468870	NM_004416.3(DTX1):c.799G>C (p.Ala267Pro)	DTX1 (A267P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643346	NM_004416.3(DTX1):c.831A>G (p.Pro277=)	DTX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2321071	NM_004416.3(DTX1):c.836G>A (p.Ser279Asn)	DTX1 (S279N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2406966	NM_004416.3(DTX1):c.862A>C (p.Thr288Pro)	DTX1 (T288P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2552799	NM_004416.3(DTX1):c.887G>C (p.Arg296Pro)	DTX1 (R296P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225786	NM_004416.3(DTX1):c.890C>G (p.Pro297Arg)	DTX1 (P297R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2469269	NM_004416.3(DTX1):c.914T>A (p.Val305Glu)	DTX1 (V305E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086105	NM_004416.3(DTX1):c.929C>T (p.Ser310Phe)	DTX1 (S310F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266331	NM_004416.3(DTX1):c.1039C>A (p.Pro347Thr)	DTX1 (P347T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086102	NM_004416.3(DTX1):c.1133G>C (p.Cys378Ser)	DTX1 (C378S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2238104	NM_004416.3(DTX1):c.1147A>G (p.Lys383Glu)	DTX1 (K383E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257572	NM_004416.3(DTX1):c.1277G>A (p.Gly426Asp)	DTX1 (G426D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595695	NM_004416.3(DTX1):c.1334G>A (p.Gly445Asp)	DTX1 (G445D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480861	NM_004416.3(DTX1):c.1376A>G (p.Asn459Ser)	DTX1 (N459S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228475	NM_004416.3(DTX1):c.1429G>A (p.Glu477Lys)	DTX1 (E477K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2464747	NM_004416.3(DTX1):c.1480C>G (p.His494Asp)	DTX1 (H494D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086103	NM_004416.3(DTX1):c.1492G>A (p.Gly498Ser)	DTX1 (G498S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2411754	NM_004416.3(DTX1):c.1570G>A (p.Gly524Arg)	DTX1 (G524R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2609159	NM_004416.3(DTX1):c.1585G>A (p.Ala529Thr)	DTX1 (A529T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2493133	NM_004416.3(DTX1):c.1772C>T (p.Thr591Met)	DTX1 (T591M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2233911	NM_004416.3(DTX1):c.1780G>A (p.Gly594Ser)	DTX1 (G594S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2643347	NM_004416.3(DTX1):c.1788G>A (p.Pro596=)	DTX1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2251192	NM_004416.3(DTX1):c.1837G>A (p.Val613Ile)	DTX1 (V613I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1708192	GRCh37/hg19 12q24.13(chr12:112998335-113510817)x3	OAS2, OAS3 +3 more	Copy number gain	See cases	GUncertain significance
Select item 1527733	GRCh37/hg19 12q24.13-24.21(chr12:113445811-114933860)	CFAP73, DDX54 +13 more	Copy number loss	not specified	GPathogenic
Select item 1252006	NC_000012.11:g.113120652_115362584del	DDX54, DTX1 +17 more	Deletion	Abnormality of the upper limb +1 more	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic

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Items: 43