"Baylor Genetics"[submitter] AND "NTHL1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2677380	NM_002528.7(NTHL1):c.904C>T (p.Gln302Ter)	NTHL1 (Q192* +2 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 3 +1 more	GUncertain significance
Select item 1954255	NM_002528.7(NTHL1):c.899C>A (p.Ala300Asp)	NTHL1 (A190D +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 663621	NM_002528.7(NTHL1):c.896C>T (p.Pro299Leu)	NTHL1 (P242L +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1765934	NM_002528.7(NTHL1):c.889C>T (p.Leu297Phe)	NTHL1 (L240F +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 968751	NM_002528.7(NTHL1):c.887C>T (p.Ala296Val)	NTHL1 (A239V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 657834	NM_002528.7(NTHL1):c.877C>G (p.Leu293Val)	NTHL1 (L293V +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GConflicting classifications of pathogenicity
Select item 822844	NM_002528.7(NTHL1):c.871G>A (p.Ala291Thr)	NTHL1 (A291T +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 858572	NM_002528.7(NTHL1):c.862C>T (p.Arg288Cys)	NTHL1 (R288C +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 620182	NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)	NTHL1 (Q279* +2 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 3 +2 more	GPathogenic/Likely pathogenic
Select item 587358	NM_002528.7(NTHL1):c.832G>A (p.Gly278Ser)	NTHL1 (G278S +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 822331	NM_002528.7(NTHL1):c.812A>G (p.Asn271Ser)	NTHL1 (N161S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 659416	NM_002528.7(NTHL1):c.806A>T (p.Glu269Val)	NTHL1 (E159V +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 638875	NM_002528.7(NTHL1):c.805G>A (p.Glu269Lys)	NTHL1 (E212K +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 2194859	NM_002528.7(NTHL1):c.800G>A (p.Trp267Ter)	NTHL1 (W157* +2 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 3 +1 more	GPathogenic/Likely pathogenic
Select item 2624712	NM_002528.7(NTHL1):c.797T>A (p.Leu266Gln)	NTHL1 (L156Q +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 649703	NM_002528.7(NTHL1):c.797T>C (p.Leu266Pro)	NTHL1 (L266P +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 1762232	NM_002528.7(NTHL1):c.792-1G>A	NTHL1	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 949095	NM_002528.7(NTHL1):c.791+2T>C	NTHL1	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 3 +2 more	GConflicting classifications of pathogenicity
Select item 1069732	NM_002528.7(NTHL1):c.791+1G>A	NTHL1	Single nucleotide variant (splice donor variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1009529	NM_002528.7(NTHL1):c.785T>C (p.Leu262Pro)	NTHL1 (L152P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 853018	NM_002528.7(NTHL1):c.784C>G (p.Leu262Val)	NTHL1 (L262V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1400424	NM_002528.7(NTHL1):c.783G>C (p.Trp261Cys)	NTHL1 (W204C +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +1 more	GUncertain significance
Select item 639573	NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter)	NTHL1 (W151* +2 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 3 +2 more	GPathogenic/Likely pathogenic
Select item 1761733	NM_002528.7(NTHL1):c.778G>A (p.Glu260Lys)	NTHL1 (E203K +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 662189	NM_002528.7(NTHL1):c.769G>C (p.Ala257Pro)	NTHL1 (A147P +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 655076	NM_002528.7(NTHL1):c.769G>A (p.Ala257Thr)	NTHL1 (A200T +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 645459	NM_002528.7(NTHL1):c.764G>A (p.Arg255His)	NTHL1 (R145H +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 657672	NM_002528.7(NTHL1):c.763C>T (p.Arg255Cys)	NTHL1 (R198C +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 938905	NM_002528.7(NTHL1):c.761C>T (p.Thr254Ile)	NTHL1 (T144I +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 639895	NM_002528.7(NTHL1):c.752C>T (p.Pro251Leu)	NTHL1 (P141L +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 659005	NM_002528.7(NTHL1):c.746A>G (p.Lys249Arg)	NTHL1 (K192R +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +3 more	GUncertain significance
Select item 664208	NM_002528.7(NTHL1):c.731C>T (p.Thr244Ile)	NTHL1 (T134I +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 647306	NM_002528.7(NTHL1):c.731C>G (p.Thr244Ser)	NTHL1 (T187S +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 948044	NM_002528.7(NTHL1):c.713C>T (p.Ala238Val)	NTHL1 (A128V +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 646870	NM_002528.7(NTHL1):c.712G>A (p.Ala238Thr)	NTHL1 (A238T +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GConflicting classifications of pathogenicity
Select item 1515221	NM_002528.7(NTHL1):c.709dup (p.Ile237fs)	NTHL1 (I237fs +2 more)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1496545	NM_002528.7(NTHL1):c.704A>C (p.His235Pro)	NTHL1 (H125P +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +1 more	GUncertain significance
Select item 641079	NM_002528.7(NTHL1):c.703C>T (p.His235Tyr)	NTHL1 (H178Y +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 664760	NM_002528.7(NTHL1):c.693C>A (p.Asp231Glu)	NTHL1 (D174E +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 649768	NM_002528.7(NTHL1):c.680G>A (p.Gly227Asp)	NTHL1 (G227D +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +3 more	GUncertain significance
Select item 850856	NM_002528.7(NTHL1):c.677C>T (p.Ser226Leu)	NTHL1 (S169L +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 655078	NM_002528.7(NTHL1):c.671C>T (p.Thr224Ile)	NTHL1 (T114I +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 997596	NM_002528.7(NTHL1):c.661G>A (p.Ala221Thr)	NTHL1 (A111T +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 654726	NM_002528.7(NTHL1):c.661G>T (p.Ala221Ser)	NTHL1 (A164S +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 647670	NM_002528.7(NTHL1):c.652A>G (p.Met218Val)	NTHL1 (M108V +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GConflicting classifications of pathogenicity
Select item 826591	NM_002528.7(NTHL1):c.649G>A (p.Ala217Thr)	NTHL1 (A160T +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 855591	NM_002528.7(NTHL1):c.644A>G (p.His215Arg)	NTHL1 (H105R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1754631	NM_002528.7(NTHL1):c.639G>A (p.Met213Ile)	NTHL1 (M213I +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 649591	NM_002528.7(NTHL1):c.637A>G (p.Met213Val)	NTHL1 (M103V +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 1515250	NM_002528.7(NTHL1):c.625_626del (p.Val209fs)	NTHL1 (V209fs +2 more)	Microsatellite (frameshift variant)	Familial adenomatous polyposis 3 +1 more	GPathogenic/Likely pathogenic
Select item 665893	NM_002528.7(NTHL1):c.625G>A (p.Val209Ile)	NTHL1 (V152I +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 650921	NM_002528.7(NTHL1):c.620C>T (p.Pro207Leu)	NTHL1 (P150L +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1312338	NM_002528.7(NTHL1):c.614C>A (p.Ala205Glu)	NTHL1 (A95E +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 640737	NM_002528.7(NTHL1):c.614C>T (p.Ala205Val)	NTHL1 (A148V +2 more)	Single nucleotide variant (missense variant)	not specified +4 more	GUncertain significance
Select item 657110	NM_002528.7(NTHL1):c.613G>A (p.Ala205Thr)	NTHL1 (A205T +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
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 655543	NM_002528.7(NTHL1):c.604G>T (p.Glu202Ter)	NTHL1 (E145* +2 more)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 641752	NM_002528.7(NTHL1):c.604G>A (p.Glu202Lys)	NTHL1 (E145K +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 1039595	NM_002528.7(NTHL1):c.592G>C (p.Ala198Pro)	NTHL1 (A198P +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 656585	NM_002528.7(NTHL1):c.589C>G (p.Pro197Ala)	NTHL1 (P140A +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 657748	NM_002528.7(NTHL1):c.583G>A (p.Asp195Asn)	NTHL1 (D138N +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 2630134	NM_002528.7(NTHL1):c.578G>T (p.Gly193Val)	NTHL1 (G136V +2 more)	Single nucleotide variant (missense variant)	NTHL1-related disorder +2 more	GUncertain significance
Select item 660395	NM_002528.7(NTHL1):c.577G>A (p.Gly193Ser)	NTHL1 (G83S +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
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 1971628	NM_002528.7(NTHL1):c.559A>G (p.Ile187Val)	NTHL1 (I130V +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +1 more	GUncertain significance
Select item 645962	NM_002528.7(NTHL1):c.551C>G (p.Thr184Ser)	NTHL1 (T127S +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	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 1002124	NM_002528.7(NTHL1):c.530A>G (p.Lys177Arg)	NTHL1 (K120R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 665971	NM_002528.7(NTHL1):c.526-1G>A	NTHL1	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 3 +2 more	GPathogenic/Likely pathogenic
Select item 1319187	NM_002528.7(NTHL1):c.525+2T>G	NTHL1	Single nucleotide variant (splice donor variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 2169584	NM_002528.7(NTHL1):c.521G>A (p.Trp174Ter)	NTHL1 (W64* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 834869	NM_002528.7(NTHL1):c.511G>A (p.Val171Ile)	NTHL1 (V171I +1 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 665248	NM_002528.7(NTHL1):c.511G>C (p.Val171Leu)	NTHL1 (V61L +1 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 3 +2 more	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 652417	NM_002528.7(NTHL1):c.499C>G (p.Leu167Val)	NTHL1 (L167V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 970591	NM_002528.7(NTHL1):c.493G>A (p.Gly165Ser)	NTHL1 (G165S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 646654	NM_002528.7(NTHL1):c.491T>C (p.Leu164Pro)	NTHL1 (L54P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 661437	NM_002528.7(NTHL1):c.488C>T (p.Thr163Met)	NTHL1 (T53M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 664935	NM_002528.7(NTHL1):c.476C>T (p.Thr159Ile)	NTHL1 (T159I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 654258	NM_002528.7(NTHL1):c.472C>T (p.Gln158Ter)	NTHL1 (Q158* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 650531	NM_002528.7(NTHL1):c.457G>T (p.Val153Leu)	NTHL1 (V153L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 645958	NM_002528.7(NTHL1):c.455C>T (p.Thr152Met)	NTHL1 (T152M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +3 more	GUncertain significance
Select item 660301	NM_002528.7(NTHL1):c.446G>C (p.Arg149Pro)	NTHL1 (R149P +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 645021	NM_002528.7(NTHL1):c.446G>A (p.Arg149Gln)	NTHL1 (R39Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 664729	NM_002528.7(NTHL1):c.445C>T (p.Arg149Trp)	NTHL1 (R149W +1 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 643316	NM_002528.7(NTHL1):c.443C>T (p.Ala148Val)	NTHL1 (A148V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified +4 more	GUncertain significance
Select item 641334	NM_002528.7(NTHL1):c.440G>A (p.Arg147Gln)	NTHL1 (R37Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 642918	NM_002528.7(NTHL1):c.439C>T (p.Arg147Trp)	NTHL1 (R147W +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 647096	NM_002528.7(NTHL1):c.433C>T (p.Arg145Ter)	NTHL1 (R35* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 3 +2 more	GPathogenic/Likely pathogenic
Select item 664977	NM_002528.7(NTHL1):c.424G>A (p.Ala142Thr)	NTHL1 (A142T +1 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 659434	NM_002528.7(NTHL1):c.421G>A (p.Gly141Ser)	NTHL1 (G31S +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1007163	NM_002528.7(NTHL1):c.419C>T (p.Ala140Val)	NTHL1 (A30V +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 653343	NM_002528.7(NTHL1):c.416C>T (p.Thr139Met)	NTHL1 (T29M +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 838915	NM_002528.7(NTHL1):c.410A>T (p.Gln137Leu)	NTHL1 (Q137L +1 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 3 +1 more	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 665291	NM_002528.7(NTHL1):c.391_392del (p.Ser131fs)	NTHL1 (S131fs +1 more)	Microsatellite (frameshift variant +1 more)	Familial adenomatous polyposis 3 +2 more	GPathogenic/Likely pathogenic
Select item 1450071	NM_002528.7(NTHL1):c.388C>G (p.Leu130Val)	NTHL1 (L130V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 853491	NM_002528.7(NTHL1):c.382C>G (p.Leu128Val)	NTHL1 (L128V +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 1060922	NM_002528.7(NTHL1):c.377T>C (p.Leu126Pro)	NTHL1 (L126P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 645235	NM_002528.7(NTHL1):c.366C>G (p.Tyr122Ter)	NTHL1 (Y12* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic

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