"GeneDx"[submitter] AND "NTHL1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58594	GRCh38/hg38 16p13.3-13.13(chr16:23141-11296695)x3	LOC112340388, LOC112441449 +821 more	Copy number gain	See cases	GPathogenic
Select item 58595	GRCh38/hg38 16p13.3(chr16:29941-2560460)x3	ABCA3, AMDHD2 +356 more	Copy number gain	See cases	GPathogenic
Select item 58597	GRCh38/hg38 16p13.3(chr16:46766-3214623)x3	ARHGDIG, ATP6V0C +482 more	Copy number gain	See cases	GPathogenic
Select item 58600	GRCh38/hg38 16p13.3(chr16:1221651-2233773)x3	BAIAP3, BRICD5 +162 more	Copy number gain	See cases	GPathogenic
Select item 1216727	NM_002528.7(NTHL1):c.*6G>T	NTHL1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 665513	NM_002528.7(NTHL1):c.907G>C (p.Gly303Arg)	NTHL1 (G193R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 757993	NM_002528.7(NTHL1):c.900C>T (p.Ala300=)	NTHL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 758458	NM_002528.7(NTHL1):c.897G>A (p.Pro299=)	NTHL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 663621	NM_002528.7(NTHL1):c.896C>T (p.Pro299Leu)	NTHL1 (P242L +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1038093	NM_002528.7(NTHL1):c.883C>A (p.Gln295Lys)	NTHL1 (Q185K +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 760672	NM_002528.7(NTHL1):c.870C>T (p.His290=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 651647	NM_002528.7(NTHL1):c.863G>A (p.Arg288His)	NTHL1 (R178H +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 757655	NM_002528.7(NTHL1):c.843C>A (p.Thr281=)	NTHL1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 620182	NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter)	NTHL1 (Q279* +2 more)	Single nucleotide variant (nonsense)	Hereditary cancer-predisposing syndrome +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 668398	NM_002528.7(NTHL1):c.831C>T (p.Phe277=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 647740	NM_002528.7(NTHL1):c.823G>A (p.Val275Met)	NTHL1 (V218M +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 822331	NM_002528.7(NTHL1):c.812A>G (p.Asn271Ser)	NTHL1 (N161S +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 656042	NM_002528.7(NTHL1):c.802C>T (p.His268Tyr)	NTHL1 (H211Y +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 545891	NM_002528.7(NTHL1):c.795del (p.Glu265fs)	NTHL1 (E208fs +2 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GLikely pathogenic
Select item 827492	NM_002528.7(NTHL1):c.793G>A (p.Glu265Lys)	NTHL1 (E155K +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 722626	NM_002528.7(NTHL1):c.792-3C>T	NTHL1	Single nucleotide variant (intron variant)	NTHL1-related condition +3 more	GConflicting classifications of pathogenicity
Select item 1069732	NM_002528.7(NTHL1):c.791+1G>A	NTHL1	Single nucleotide variant (splice donor variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 662189	NM_002528.7(NTHL1):c.769G>C (p.Ala257Pro)	NTHL1 (A147P +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +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)	Familial adenomatous polyposis 3 +3 more	GConflicting classifications of pathogenicity
Select item 847902	NM_002528.7(NTHL1):c.763C>G (p.Arg255Gly)	NTHL1 (R255G +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 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 639895	NM_002528.7(NTHL1):c.752C>T (p.Pro251Leu)	NTHL1 (P141L +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 656262	NM_002528.7(NTHL1):c.748T>A (p.Ser250Thr)	NTHL1 (S250T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 659005	NM_002528.7(NTHL1):c.746A>G (p.Lys249Arg)	NTHL1 (K192R +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 948044	NM_002528.7(NTHL1):c.713C>T (p.Ala238Val)	NTHL1 (A128V +2 more)	Single nucleotide variant (missense variant)	not provided +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)	Hereditary cancer-predisposing syndrome +3 more	GConflicting classifications of pathogenicity
Select item 1515221	NM_002528.7(NTHL1):c.709dup (p.Ile237fs)	NTHL1 (I237fs +2 more)	Duplication (frameshift variant)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 766380	NM_002528.7(NTHL1):c.705C>T (p.His235=)	NTHL1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1310009	NM_002528.7(NTHL1):c.695C>A (p.Thr232Lys)	NTHL1 (T122K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1309288	NM_002528.7(NTHL1):c.690G>A (p.Val230=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 651153	NM_002528.7(NTHL1):c.686-7C>G	NTHL1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 679779	NM_002528.7(NTHL1):c.686-99G>A	NTHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1210574	NM_002528.7(NTHL1):c.685+123A>G	NTHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
Select item 654726	NM_002528.7(NTHL1):c.661G>T (p.Ala221Ser)	NTHL1 (A164S +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +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)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 855591	NM_002528.7(NTHL1):c.644A>G (p.His215Arg)	NTHL1 (H105R +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 748652	NM_002528.7(NTHL1):c.621G>A (p.Pro207=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 758775	NM_002528.7(NTHL1):c.615G>A (p.Ala205=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1312338	NM_002528.7(NTHL1):c.614C>A (p.Ala205Glu)	NTHL1 (A95E +2 more)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +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	GUncertain significance
Select item 757814	NM_002528.7(NTHL1):c.607C>T (p.Leu203=)	NTHL1	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1305901	NM_002528.7(NTHL1):c.585C>T (p.Asp195=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 660395	NM_002528.7(NTHL1):c.577G>A (p.Gly193Ser)	NTHL1 (G83S +2 more)	Single nucleotide variant (missense variant)	not specified +3 more	GUncertain significance
Select item 741376	NM_002528.7(NTHL1):c.576C>T (p.Tyr192=)	NTHL1	Single nucleotide variant (synonymous variant)	NTHL1-related condition +2 more	GLikely benign
Select item 1091759	NM_002528.7(NTHL1):c.564G>A (p.Leu188=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1706124	NM_002528.7(NTHL1):c.556G>T (p.Ala186Ser)	NTHL1 (A129S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 639791	NM_002528.7(NTHL1):c.556G>A (p.Ala186Thr)	NTHL1 (A129T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1312621	NM_002528.7(NTHL1):c.539A>G (p.Tyr180Cys)	NTHL1 (Y123C +2 more)	Single nucleotide variant (missense variant)	not provided	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 1099014	NM_002528.7(NTHL1):c.526-10T>G	NTHL1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 514746	NM_002528.7(NTHL1):c.526-11_526-10del	NTHL1	Deletion (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 679778	NM_002528.7(NTHL1):c.525+131C>T	NTHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 861425	NM_002528.7(NTHL1):c.525G>A (p.Arg175=)	NTHL1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2169584	NM_002528.7(NTHL1):c.521G>A (p.Trp174Ter)	NTHL1 (W64* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 3 +1 more	GPathogenic/Likely pathogenic
Select item 515928	NM_002528.7(NTHL1):c.516T>G (p.Gly172=)	NTHL1	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 834869	NM_002528.7(NTHL1):c.511G>A (p.Val171Ile)	NTHL1 (V171I +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +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)	not provided +2 more	GUncertain significance
Select item 756738	NM_002528.7(NTHL1):c.510C>T (p.Pro170=)	NTHL1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 587357	NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr)	NTHL1 (I168T +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +4 more	GConflicting classifications of pathogenicity
Select item 646654	NM_002528.7(NTHL1):c.491T>C (p.Leu164Pro)	NTHL1 (L54P +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 762962	NM_002528.7(NTHL1):c.489G>A (p.Thr163=)	NTHL1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 661437	NM_002528.7(NTHL1):c.488C>T (p.Thr163Met)	NTHL1 (T53M +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 758706	NM_002528.7(NTHL1):c.486C>T (p.Ala162=)	NTHL1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 759519	NM_002528.7(NTHL1):c.483T>C (p.Asp161=)	NTHL1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 971902	NM_002528.7(NTHL1):c.479A>G (p.Asp160Gly)	NTHL1 (D50G +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	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)	not provided +2 more	GUncertain significance
Select item 651378	NM_002528.7(NTHL1):c.455C>A (p.Thr152Lys)	NTHL1 (T42K +1 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 3 +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)	Familial adenomatous polyposis 3 +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 +1 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)	Familial adenomatous polyposis 3 +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 515021	NM_002528.7(NTHL1):c.444G>A (p.Ala148=)	NTHL1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GLikely benign
Select item 643316	NM_002528.7(NTHL1):c.443C>T (p.Ala148Val)	NTHL1 (A148V +1 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 3 +4 more	GUncertain significance
Select item 1313094	NM_002528.7(NTHL1):c.440G>T (p.Arg147Leu)	NTHL1 (R147L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 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 +1 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 +1 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)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic/Likely pathogenic
Select item 659434	NM_002528.7(NTHL1):c.421G>A (p.Gly141Ser)	NTHL1 (G31S +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 514865	NM_002528.7(NTHL1):c.420G>A (p.Ala140=)	NTHL1	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 653343	NM_002528.7(NTHL1):c.416C>T (p.Thr139Met)	NTHL1 (T29M +1 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 1098039	NM_002528.7(NTHL1):c.402C>G (p.Thr134=)	NTHL1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 1307035	NM_002528.7(NTHL1):c.384G>C (p.Leu128=)	NTHL1	Single nucleotide variant (synonymous variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GConflicting classifications of pathogenicity
Select item 840254	NM_002528.7(NTHL1):c.380C>T (p.Ser127Leu)	NTHL1 (S127L +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1148995	NM_002528.7(NTHL1):c.373C>T (p.Leu125=)	NTHL1	Single nucleotide variant (synonymous variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 644578	NM_002528.7(NTHL1):c.366C>A (p.Tyr122Ter)	NTHL1 (Y12* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 3 +2 more	GPathogenic
Select item 639039	NM_002528.7(NTHL1):c.359G>A (p.Arg120His)	NTHL1 (R10H +1 more)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 843342	NM_002528.7(NTHL1):c.358C>T (p.Arg120Cys)	NTHL1 (R120C +1 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 641091	NM_002528.7(NTHL1):c.355G>T (p.Val119Leu)	NTHL1 (V119L +1 more)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 3 +2 more	GConflicting classifications of pathogenicity
Select item 1293804	NM_002528.7(NTHL1):c.355-264A>G	NTHL1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1212089	NM_002528.7(NTHL1):c.355-277G>A	NTHL1	Single nucleotide variant (intron variant)	not provided	GLikely benign

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