ClinVar for Gene (Select 196403) - ClinVar

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

Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 2498574	GRCh37/hg19 12q13.3-14.1(chr12:57064059-59314016)x1	AGAP2, ARHGAP9 +45 more	Copy number loss	not provided	GLikely pathogenic
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 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 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 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 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 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 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 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 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)	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
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 59020	GRCh38/hg38 12q13.3-14.1(chr12:57041158-60273934)x1	AGAP2, AGAP2-AS1 +162 more	Copy number loss	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

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: 28