"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "LOC1300678 - ClinVar - NCBI

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Items: 10

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 764487	NM_001953.5(TYMP):c.1242G>A (p.Pro414=)	SCO2, TYMP +1 more	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2653401	NM_001953.5(TYMP):c.1165G>A (p.Val389Met)	LOC130067862, SCO2 +1 more (V389M +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 223064	NM_001953.5(TYMP):c.1160-1G>A	LOC130067862, SCO2 +1 more (G392S)	Single nucleotide variant (missense variant +3 more)	Mitochondrial neurogastrointestinal encephalomyopathy +2 more	GPathogenic
Select item 137875	NM_001953.5(TYMP):c.1159+12G>A	LOC130067862, SCO2 +1 more	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 342139	NM_001953.5(TYMP):c.1137G>A (p.Glu379=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	Mitochondrial DNA depletion syndrome 1 +3 more	GConflicting classifications of pathogenicity
Select item 378841	NM_001953.5(TYMP):c.1071C>T (p.Ala357=)	LOC130067862, SCO2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 872413	NM_001953.5(TYMP):c.1034G>A (p.Arg345Gln)	SCO2, LOC130067862 +1 more (R345Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 870753	NM_001953.5(TYMP):c.996_1026del (p.Ala333fs)	LOC130067862, SCO2 +1 more (A333fs)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 870754	NM_001953.5(TYMP):c.945G>A (p.Trp315Ter)	LOC130067862, TYMP (W315*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 215324	NM_001953.4(TYMP):c.929-6_929-3del	LOC130067862, SCO2 +1 more	Microsatellite (intron variant)	Mitochondrial DNA depletion syndrome 1 +4 more	GBenign/Likely benign