ClinVar for Gene (Select 1649) - ClinVar

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Links from Gene

Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244244	NC_000012.11:g.(?_56711393)_(58190366_?)dup	MIR616, PAN2 +51 more	Duplication	Cataract 15 multiple types +3 more	GUncertain significance
Select item 3080764	NM_004083.6(DDIT3):c.1A>T (p.Met1Leu)	DDIT3 (M1L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080763	NM_004083.6(DDIT3):c.391G>A (p.Val131Met)	DDIT3 (V154M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080762	NM_004083.6(DDIT3):c.356G>A (p.Arg119His)	DDIT3 (R119H +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080761	NM_004083.6(DDIT3):c.347G>C (p.Gly116Ala)	DDIT3 (G116A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080760	NM_004083.6(DDIT3):c.263G>C (p.Ser88Thr)	DDIT3 (S111T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080759	NM_004083.6(DDIT3):c.92C>T (p.Ser31Leu)	DDIT3 (S54L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2607356	NM_004083.6(DDIT3):c.376G>C (p.Glu126Gln)	DDIT3 (E149Q +1 more)	Single nucleotide variant (missense variant +1 more)	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 2464161	NM_004083.6(DDIT3):c.373C>G (p.Gln125Glu)	DDIT3 (Q148E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2425253	NC_000012.11:g.(?_57906514)_(57976962_?)dup	DCTN2, DDIT3 +4 more	Duplication	Spastic paraplegia +2 more	GUncertain significance
Select item 2422308	NC_000012.11:g.(?_57534470)_(58190366_?)dup	AGAP2, ARHGAP9 +27 more	Duplication	Familial melanoma	GUncertain significance
Select item 2375316	NM_004083.6(DDIT3):c.-32-6C>G	DDIT3 (P11R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2370368	NM_004083.6(DDIT3):c.470G>A (p.Arg157Gln)	DDIT3 (R180Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2312839	NM_004083.6(DDIT3):c.388A>G (p.Lys130Glu)	DDIT3 (K130E +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 782562	NM_004083.6(DDIT3):c.-23T>C	DDIT3 (F16S)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 773025	NM_004083.6(DDIT3):c.-32-25C>G	DDIT3 (P5A)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 703854	NM_004083.6(DDIT3):c.436G>A (p.Glu146Lys)	DDIT3 (E146K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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

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Links from Gene

Items: 28