DTX3[gene] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 59019	GRCh38/hg38 12q13.3-14.2(chr12:57013355-63042498)x1	AGAP2, AGAP2-AS1 +199 more	Copy number loss	See cases	GPathogenic
Select item 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	See cases	GPathogenic
Select item 2271028	NM_178502.4(DTX3):c.10G>C (p.Val4Leu)	DTX3 (V4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3273972	NM_178502.4(DTX3):c.68A>G (p.Lys23Arg)	DTX3 (K26R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376363	NM_178502.4(DTX3):c.122G>A (p.Arg41Gln)	DTX3 (R44Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351812	NM_178502.4(DTX3):c.206C>G (p.Pro69Arg)	DTX3 (P72R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3273973	NM_178502.4(DTX3):c.208G>A (p.Ala70Thr)	DTX3 (A70T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086120	NM_178502.4(DTX3):c.239A>G (p.Lys80Arg)	DTX3 (K80R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279020	NM_178502.4(DTX3):c.297G>C (p.Gln99His)	DTX3 (Q102H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479863	NM_178502.4(DTX3):c.304C>G (p.Leu102Val)	DTX3 (L102V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256781	NM_178502.4(DTX3):c.358G>A (p.Ala120Thr)	DTX3 (A120T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086121	NM_178502.4(DTX3):c.406C>T (p.Arg136Trp)	DTX3 (R139W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2605833	NM_178502.4(DTX3):c.418C>G (p.Pro140Ala)	DTX3 (P140A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086122	NM_178502.4(DTX3):c.424C>T (p.Pro142Ser)	DTX3 (P142S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2590543	NM_178502.4(DTX3):c.440C>T (p.Pro147Leu)	DTX3 (P147L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344544	NM_178502.4(DTX3):c.454C>T (p.Arg152Cys)	DTX3 (R152C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086123	NM_178502.4(DTX3):c.592G>T (p.Ala198Ser)	DTX3 (A201S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086124	NM_178502.4(DTX3):c.727G>A (p.Val243Ile)	DTX3 (V243I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339241	NM_178502.4(DTX3):c.985C>T (p.Pro329Ser)	DTX3 (P332S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	SDR9C7, TSPAN31 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
Select item 2425252	NC_000012.11:g.(?_57971476)_(58025915_?)dup	ARHGEF25, B4GALNT1 +3 more	Duplication	Spastic paraplegia	GUncertain significance
Select item 2422308	NC_000012.11:g.(?_57534470)_(58190366_?)dup	AGAP2, ARHGAP9 +27 more	Duplication	Familial melanoma	GUncertain significance
Select item 1808720	GRCh37/hg19 12q13.3-14.1(chr12:57631073-58236597)x1	AGAP2, ARHGAP9 +27 more	Copy number loss	not provided	GLikely pathogenic
Select item 1410313	NC_000012.11:g.(?_57881874)_(58190366_?)dup	AGAP2, ARHGEF25 +17 more	Duplication	not provided	GUncertain significance
Select item 815529	GRCh37/hg19 12q13.3-14.1(chr12:57582163-59031979)x1	AGAP2, ARHGAP9 +31 more	Copy number loss	not provided	GLikely pathogenic
Select item 815528	GRCh37/hg19 12q13.2-14.1(chr12:55552371-62126304)x3	AGAP2, ANKRD52 +105 more	Copy number gain	not provided	GPathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 31