Related gene-specific medical variations for Gene (Select 8802) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3247379	NC_000002.11:g.(?_84650870)_(84652747_?)del	SUCLG1	Deletion	Mitochondrial DNA depletion syndrome 9	GLikely pathogenic
Select item 2436521	NM_003849.4(SUCLG1):c.548T>G (p.Ile183Ser)	SUCLG1 (I183S)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome 9	GUncertain significance
Select item 2434026	NM_003849.4(SUCLG1):c.790G>T (p.Glu264Ter)	SUCLG1 (E264*)	Single nucleotide variant (nonsense)	Mitochondrial DNA depletion syndrome 9	GLikely pathogenic
Select item 1012243	NM_003849.4(SUCLG1):c.987dup (p.Ala330fs)	SUCLG1 (A330fs)	Duplication (frameshift variant)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 980434	GRCh37/hg19 2p11.2(chr2:83598955-84683243)x3	SUCLG1	Copy number gain	not provided	GUncertain significance
Select item 818207	NM_003849.4(SUCLG1):c.457_458delinsTA (p.Val153Ter)	SUCLG1 (V153*)	Indel (nonsense)	Mitochondrial DNA depletion syndrome 9	GPathogenic
Select item 685380	GRCh37/hg19 2p11.2(chr2:84557633-84673199)x3	SUCLG1	Copy number gain	not provided	GUncertain significance

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