"Institute for Clinical Genetics, University Hospital TU Dresden, Univ - ClinVar - NCBI

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

Search results

Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 218092	NM_002528.7(NTHL1):c.685+1G>A	NTHL1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 649591	NM_002528.7(NTHL1):c.637A>G (p.Met213Val)	NTHL1 (M103V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1319187	NM_002528.7(NTHL1):c.525+2T>G	NTHL1	Single nucleotide variant (splice donor variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 587357	NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr)	NTHL1 (I168T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 3 +4 more	GConflicting classifications of pathogenicity
Select item 2576030	NM_002528.7(NTHL1):c.426_445del (p.Met143fs)	NTHL1 (M143fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 843342	NM_002528.7(NTHL1):c.358C>T (p.Arg120Cys)	NTHL1 (R120C +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 192319	NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter)	NTHL1 (Q82*)	Single nucleotide variant (nonsense +1 more)	NTHL1-related condition +3 more	GPathogenic
Select item 1045520	NM_002528.7(NTHL1):c.183G>C (p.Glu61Asp)	NTHL1 (E61D +1 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 639293	NM_002528.7(NTHL1):c.32G>A (p.Arg11Gln)	NTHL1 (R11Q)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 3 +2 more	GUncertain significance