ClinVar for MedGen (Select 767513) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 1709661	NM_001080449.3(DNA2):c.876C>A (p.Tyr292Ter)	DNA2 (Y292*)	Single nucleotide variant (nonsense +1 more)	Mitochondrial DNA deletion syndrome with progressive myopathy	GUncertain significance
Select item 1698835	NM_001080449.3(DNA2):c.1213T>C (p.Tyr405His)	DNA2 (Y405H)	Single nucleotide variant (non-coding transcript variant +1 more)	Mitochondrial DNA deletion syndrome with progressive myopathy +1 more	GUncertain significance
Select item 1333770	NM_001080449.3(DNA2):c.2546G>T (p.Gly849Val)	DNA2 (G849V)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA deletion syndrome with progressive myopathy	GUncertain significance
Select item 1333768	NM_001080449.3(DNA2):c.1450del (p.Arg484fs)	DNA2 (R484fs)	Deletion (frameshift variant +1 more)	Mitochondrial DNA deletion syndrome with progressive myopathy	GUncertain significance
Select item 1333505	NM_001080449.3(DNA2):c.411G>C (p.Met137Ile)	DNA2 (M137I)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA deletion syndrome with progressive myopathy	GUncertain significance
Select item 1176875	NM_001080449.3(DNA2):c.662C>G (p.Ala221Gly)	DNA2 (A221G)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 1031788	NM_001080449.3(DNA2):c.707T>C (p.Met236Thr)	DNA2 (M236T)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 8	GUncertain significance
Select item 1030090	NM_001080449.3(DNA2):c.2219C>G (p.Ala740Gly)	DNA2 (A740G)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA deletion syndrome with progressive myopathy	GUncertain significance
Select item 807407	NM_001080449.3(DNA2):c.1919C>T (p.Ser640Leu)	DNA2 (S640L)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA deletion syndrome with progressive myopathy +1 more	GLikely pathogenic
Select item 559218	NM_001080449.3(DNA2):c.720-4del	DNA2	Deletion (intron variant)	not provided +2 more	GBenign/Likely benign
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 516414	NM_001080449.3(DNA2):c.1057+19del	DNA2	Deletion (intron variant)	Seckel syndrome 8 +2 more	GBenign
Select item 429200	NM_001080449.3(DNA2):c.2697+13del	DNA2	Deletion (intron variant)	Seckel syndrome 8 +2 more	GBenign
Select item 385006	NM_001080449.3(DNA2):c.1649A>G (p.Asn550Ser)	DNA2 (N550S)	Single nucleotide variant (missense variant +1 more)	not provided +3 more	GBenign/Likely benign
Select item 382984	NM_001080449.3(DNA2):c.295T>C (p.Leu99=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	DNA2-related condition +4 more	GBenign/Likely benign
Select item 381847	NM_001080449.3(DNA2):c.888G>A (p.Pro296=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	Seckel syndrome 8 +3 more	GBenign/Likely benign
Select item 265529	NM_001080449.3(DNA2):c.1644_1647del (p.Asp548fs)	DNA2 (D548fs)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 257346	NM_001080449.3(DNA2):c.507C>A (p.Ala169=)	DNA2	Single nucleotide variant (synonymous variant +1 more)	Seckel syndrome 8 +3 more	GBenign
Select item 257343	NM_001080449.3(DNA2):c.2430C>G (p.Phe810Leu)	DNA2 (F810L)	Single nucleotide variant (missense variant +1 more)	Seckel syndrome 8 +3 more	GBenign/Likely benign
Select item 41479	NM_001080449.3(DNA2):c.1909G>A (p.Val637Ile)	DNA2 (V637I)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 41478	NM_001080449.3(DNA2):c.679A>G (p.Lys227Glu)	DNA2 (K227E)	Single nucleotide variant (missense variant +1 more)	Mitochondrial DNA deletion syndrome with progressive myopathy	GPathogenic
Select item 41477	NM_001080449.3(DNA2):c.593G>A (p.Arg198His)	DNA2 (R198H)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 23