"SUCLG1-related disorder"[Disease/phenotype] AND "PreventionGenetics, - ClinVar - NCBI

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

Search results

Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 337155	NM_003849.4(SUCLG1):c.590-6G>A	SUCLG1	Single nucleotide variant (intron variant)	Mitochondrial DNA depletion syndrome 9 +3 more	GConflicting classifications of pathogenicity
Select item 440313	NM_003849.4(SUCLG1):c.537A>G (p.Gly179=)	SUCLG1	Single nucleotide variant (synonymous variant)	SUCLG1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 337157	NM_003849.4(SUCLG1):c.345T>C (p.Ala115=)	SUCLG1	Single nucleotide variant (synonymous variant)	SUCLG1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 895876	NM_003849.4(SUCLG1):c.319-8T>C	SUCLG1	Single nucleotide variant (intron variant)	SUCLG1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 203970	NM_003849.4(SUCLG1):c.236G>A (p.Gly79Asp)	SUCLG1 (G79D)	Single nucleotide variant (missense variant)	Mitochondrial DNA depletion syndrome +4 more	GConflicting classifications of pathogenicity
Select item 1216878	NM_003849.4(SUCLG1):c.102G>A (p.Pro34=)	SUCLG1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 705976	NM_003849.4(SUCLG1):c.63C>A (p.Leu21=)	SUCLG1	Single nucleotide variant (synonymous variant)	Mitochondrial DNA depletion syndrome 9 +2 more	GLikely benign
Select item 337164	NM_003849.3(SUCLG1):c.-39C>G	SUCLG1	Single nucleotide variant	SUCLG1-related disorder +3 more	GConflicting classifications of pathogenicity