Related gene-specific medical variations for Gene (Select 1763) - ClinVar

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Links from Gene

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244960	NC_000010.10:g.(?_70176446)_(70192287_?)dup	DNA2	Duplication	not provided	GUncertain significance
Select item 3244958	NC_000010.10:g.(?_70225404)_(70231621_?)dup	DNA2	Duplication	not provided	GUncertain significance
Select item 3244957	NC_000010.10:g.(?_70204658)_(70206190_?)del	DNA2	Deletion	not provided	GUncertain significance
Select item 3244956	NC_000010.10:g.(?_70174796)_(70176632_?)del	DNA2	Deletion	not provided	GUncertain significance
Select item 3244955	NC_000010.10:g.(?_70206033)_(70206190_?)del	DNA2	Deletion	not provided	GUncertain significance
Select item 3235127	NM_001080449.3:c.1764-38_1764-37insGAACCTCAAACAGCCAGGAGCAGCTGGAATGCAGGCCTTTCACTCCACTTTTC	DNA2	Insertion	Seckel syndrome 8	GPathogenic
Select item 3233330	NM_001080449.3(DNA2):c.1982_1983del (p.Leu661fs)	DNA2 (L661fs)	Microsatellite (frameshift variant +1 more)	Mitochondrial DNA deletion syndrome with progressive myopathy	GUncertain significance
Select item 2818215	NM_001080449.3(DNA2):c.3115-19C>T	DNA2, LOC132089842	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2693502	NM_001080449.3(DNA2):c.3117C>A (p.Ile1039=)	DNA2, LOC132089842	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2627764	NM_001080449.3(DNA2):c.1462G>A (p.Val488Ile)	DNA2 (V488I)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA deletion syndrome with progressive myopathy	GUncertain significance
Select item 2440892	NM_001080449.3(DNA2):c.731dup (p.Asn244fs)	DNA2 (N244fs)	Duplication (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2440891	NM_001080449.3(DNA2):c.1388A>G (p.Asn463Ser)	DNA2 (N463S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2440890	NM_001080449.3(DNA2):c.3084G>T (p.Lys1028Asn)	DNA2 (K1028N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2106903	NM_001080449.3(DNA2):c.3161del (p.Leu1054fs)	LOC132089842, DNA2 (L1054fs)	Deletion (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1700971	NM_001080449.3(DNA2):c.3122A>G (p.Asp1041Gly)	DNA2, LOC132089842 (D1041G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1511881	NM_001080449.3(DNA2):c.3157A>G (p.Ile1053Val)	DNA2, LOC132089842 (I1053V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1477835	NM_001080449.3(DNA2):c.3137A>G (p.Glu1046Gly)	DNA2, LOC132089842 (E1046G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1324261	NM_001080449.3(DNA2):c.1220+2T>C	DNA2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 1322749	NM_001080449.3(DNA2):c.258-1G>T	DNA2	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 1292160	NM_001080449.3(DNA2):c.3115-21T>C	DNA2, LOC132089842	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278246	NM_001080449.3(DNA2):c.3115-99del	DNA2, LOC132089842	Deletion (intron variant)	not provided	GBenign
Select item 806496	NM_001080449.3(DNA2):c.1936A>C (p.Ile646Leu)	DNA2 (I646L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 522960	NM_001080449.3(DNA2):c.3014C>T (p.Thr1005Ile)	DNA2 (T1005I)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA deletion syndrome with progressive myopathy	GLikely pathogenic
Select item 424949	NM_001080449.3(DNA2):c.186_187dup (p.Glu63fs)	DNA2 (E63fs)	Microsatellite (frameshift variant +1 more)	not provided	GLikely pathogenic

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Links from Gene

Items: 24