Related gene-specific medical variations for Gene (Select 4913) - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243633	NC_000016.9:g.(?_2089925)_(2094811_?)del	NTHL1	Deletion	not provided	GPathogenic
Select item 3243632	NC_000016.9:g.(?_2093548)_(2096387_?)del	NTHL1	Deletion	not provided	GUncertain significance
Select item 3239986	NM_002528.7(NTHL1):c.608T>C (p.Leu203Pro)	NTHL1 (L146P +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3	GUncertain significance
Select item 2682031	NM_002528.7(NTHL1):c.300A>T (p.Ala100=)	NTHL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 2677385	NM_002528.7(NTHL1):c.397C>T (p.Gln133Ter)	NTHL1 (Q133* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 3	GLikely pathogenic
Select item 2677384	NM_002528.7(NTHL1):c.115+2T>G	NTHL1	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 3	GLikely pathogenic
Select item 2677383	NM_002528.7(NTHL1):c.355-27C>G	NTHL1	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 3	GUncertain significance
Select item 2677382	NM_002528.7(NTHL1):c.507C>A (p.Tyr169Ter)	NTHL1 (Y169* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 3	GLikely pathogenic
Select item 2677381	NM_002528.7(NTHL1):c.35_48dup (p.Pro17fs)	NTHL1 (P17fs)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 3	GLikely pathogenic
Select item 2677379	NM_002528.7(NTHL1):c.571C>T (p.His191Tyr)	NTHL1 (H134Y +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3	GUncertain significance
Select item 2677377	NM_002528.7(NTHL1):c.530del (p.Lys177fs)	NTHL1 (K120fs +2 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 3	GLikely pathogenic
Select item 2677376	NM_002528.7(NTHL1):c.354+65C>G	NTHL1	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 3	GUncertain significance
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 2434455	NM_002528.7(NTHL1):c.190G>T (p.Asp64Tyr)	NTHL1 (D64Y)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 3	GUncertain significance
Select item 1177373	NM_002528.7(NTHL1):c.745A>T (p.Lys249Ter)	NTHL1 (K139* +2 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 3	GLikely pathogenic