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

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3301265	NM_002528.7(NTHL1):c.915_*16dup (p.Leu304_Ter305=)	NTHL1	Duplication (no sequence alteration)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1349444	NM_002528.7(NTHL1):c.915A>G (p.Ter305Trp)	NTHL1	Single nucleotide variant (stop lost)	not provided +1 more	GUncertain significance
Select item 1766769	NM_002528.7(NTHL1):c.914G>A (p.Ter305=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1994747	NM_002528.7(NTHL1):c.912_913del (p.Ter305MetextTer?)	NTHL1	Microsatellite (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 823190	NM_002528.7(NTHL1):c.911T>A (p.Leu304His)	NTHL1 (L247H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1766633	NM_002528.7(NTHL1):c.909T>C (p.Gly303=)	NTHL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1766567	NM_002528.7(NTHL1):c.907G>A (p.Gly303Ser)	NTHL1 (G193S +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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	GConflicting classifications of pathogenicity
Select item 1097478	NM_002528.7(NTHL1):c.906G>A (p.Gln302=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1766391	NM_002528.7(NTHL1):c.902C>T (p.Ala301Val)	NTHL1 (A301V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 645998	NM_002528.7(NTHL1):c.901G>A (p.Ala301Thr)	NTHL1 (A301T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 757993	NM_002528.7(NTHL1):c.900C>T (p.Ala300=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GBenign/Likely benign
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 1552916	NM_002528.7(NTHL1):c.897G>T (p.Pro299=)	NTHL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely 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 2586097	NM_002528.7(NTHL1):c.896C>G (p.Pro299Arg)	NTHL1 (P299R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	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 1510165	NM_002528.7(NTHL1):c.890T>C (p.Leu297Pro)	NTHL1 (L187P +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 645433	NM_002528.7(NTHL1):c.889C>G (p.Leu297Val)	NTHL1 (L187V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 757789	NM_002528.7(NTHL1):c.888C>A (p.Ala296=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
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 1765732	NM_002528.7(NTHL1):c.884A>G (p.Gln295Arg)	NTHL1 (Q295R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1765701	NM_002528.7(NTHL1):c.883C>T (p.Gln295Ter)	NTHL1 (Q185* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GLikely pathogenic
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 1017123	NM_002528.7(NTHL1):c.883C>G (p.Gln295Glu)	NTHL1 (Q185E +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3301254	NM_002528.7(NTHL1):c.882C>T (p.Asn294=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 646860	NM_002528.7(NTHL1):c.882C>G (p.Asn294Lys)	NTHL1 (N294K +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 3301272	NM_002528.7(NTHL1):c.880A>C (p.Asn294His)	NTHL1 (N184H +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1042949	NM_002528.7(NTHL1):c.877C>T (p.Leu293Phe)	NTHL1 (L236F +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 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 1765388	NM_002528.7(NTHL1):c.875G>T (p.Cys292Phe)	NTHL1 (C235F +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1765278	NM_002528.7(NTHL1):c.872C>T (p.Ala291Val)	NTHL1 (A291V +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
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 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 949091	NM_002528.7(NTHL1):c.869A>G (p.His290Arg)	NTHL1 (H180R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1026614	NM_002528.7(NTHL1):c.863G>C (p.Arg288Pro)	NTHL1 (R178P +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
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 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 1408735	NM_002528.7(NTHL1):c.860C>G (p.Pro287Arg)	NTHL1 (P287R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3222687	NM_002528.7(NTHL1):c.859C>G (p.Pro287Ala)	NTHL1 (P177A +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2586095	NM_002528.7(NTHL1):c.858C>G (p.His286Gln)	NTHL1 (H176Q +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1107687	NM_002528.7(NTHL1):c.858C>T (p.His286=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 1764770	NM_002528.7(NTHL1):c.857A>G (p.His286Arg)	NTHL1 (H176R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3222686	NM_002528.7(NTHL1):c.856C>T (p.His286Tyr)	NTHL1 (H176Y +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 834403	NM_002528.7(NTHL1):c.855_856delinsTT (p.His286Tyr)	NTHL1 (H176Y +2 more)	Indel (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 2451102	NM_002528.7(NTHL1):c.855G>T (p.Val285=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1764689	NM_002528.7(NTHL1):c.855G>A (p.Val285=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1388098	NM_002528.7(NTHL1):c.854T>C (p.Val285Ala)	NTHL1 (V285A +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2565695	NM_002528.7(NTHL1):c.853G>C (p.Val285Leu)	NTHL1 (V228L +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1008869	NM_002528.7(NTHL1):c.853G>A (p.Val285Met)	NTHL1 (V175M +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3222685	NM_002528.7(NTHL1):c.852T>A (p.Pro284=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222684	NM_002528.7(NTHL1):c.851C>T (p.Pro284Leu)	NTHL1 (P174L +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1077480	NM_002528.7(NTHL1):c.846T>C (p.Cys282=)	NTHL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1721603	NM_002528.7(NTHL1):c.844T>C (p.Cys282Arg)	NTHL1 (C172R +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2565692	NM_002528.7(NTHL1):c.843C>T (p.Thr281=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 757655	NM_002528.7(NTHL1):c.843C>A (p.Thr281=)	NTHL1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1473273	NM_002528.7(NTHL1):c.842C>A (p.Thr281Asn)	NTHL1 (T224N +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 663340	NM_002528.7(NTHL1):c.842C>T (p.Thr281Ile)	NTHL1 (T171I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1764180	NM_002528.7(NTHL1):c.840G>A (p.Gln280=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3301249	NM_002528.7(NTHL1):c.839A>G (p.Gln280Arg)	NTHL1 (Q170R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1764095	NM_002528.7(NTHL1):c.838C>T (p.Gln280Ter)	NTHL1 (Q170* +2 more)	Single nucleotide variant (nonsense)	not provided +1 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 1081725	NM_002528.7(NTHL1):c.834C>T (p.Gly278=)	NTHL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1431124	NM_002528.7(NTHL1):c.833G>A (p.Gly278Asp)	NTHL1 (G221D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1974837	NM_002528.7(NTHL1):c.832G>C (p.Gly278Arg)	NTHL1 (G221R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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)	not provided +1 more	GLikely benign
Select item 1763747	NM_002528.7(NTHL1):c.828C>T (p.Gly276=)	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)	not provided +2 more	GUncertain significance
Select item 1143079	NM_002528.7(NTHL1):c.819C>T (p.Leu273=)	NTHL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1125788	NM_002528.7(NTHL1):c.819C>G (p.Leu273=)	NTHL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 839780	NM_002528.7(NTHL1):c.817C>T (p.Leu273Phe)	NTHL1 (L163F +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 1763273	NM_002528.7(NTHL1):c.816A>G (p.Gly272=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 1108267	NM_002528.7(NTHL1):c.813T>C (p.Asn271=)	NTHL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1001662	NM_002528.7(NTHL1):c.812A>C (p.Asn271Thr)	NTHL1 (N161T +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)	not provided +2 more	GUncertain significance
Select item 2169278	NM_002528.7(NTHL1):c.811A>C (p.Asn271His)	NTHL1 (N161H +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
Select item 836475	NM_002528.7(NTHL1):c.811A>T (p.Asn271Tyr)	NTHL1 (N214Y +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1763023	NM_002528.7(NTHL1):c.810C>A (p.Ile270=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
Select item 3222682	NM_002528.7(NTHL1):c.807G>C (p.Glu269Asp)	NTHL1 (E159D +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 2446938	NM_002528.7(NTHL1):c.807G>T (p.Glu269Asp)	NTHL1 (E212D +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 796625	NM_002528.7(NTHL1):c.807G>A (p.Glu269=)	NTHL1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1762862	NM_002528.7(NTHL1):c.806A>G (p.Glu269Gly)	NTHL1 (E212G +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	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 838410	NM_002528.7(NTHL1):c.805G>C (p.Glu269Gln)	NTHL1 (E212Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 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 760932	NM_002528.7(NTHL1):c.804C>T (p.His268=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome +1 more	GLikely benign
Select item 641416	NM_002528.7(NTHL1):c.804C>G (p.His268Gln)	NTHL1 (H268Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 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 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 1762519	NM_002528.7(NTHL1):c.797T>G (p.Leu266Arg)	NTHL1 (L266R +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	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 1762393	NM_002528.7(NTHL1):c.795G>C (p.Glu265Asp)	NTHL1 (E208D +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 545891	NM_002528.7(NTHL1):c.795del (p.Glu265fs)	NTHL1 (E208fs +2 more)	Deletion (frameshift variant)	not provided +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)	not provided +1 more	GUncertain significance
Select item 2451095	NM_002528.7(NTHL1):c.792G>C (p.Arg264Ser)	NTHL1 (R154S +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome	GUncertain significance
Select item 1762271	NM_002528.7(NTHL1):c.792G>A (p.Arg264=)	NTHL1	Single nucleotide variant (synonymous variant)	Hereditary cancer-predisposing syndrome	GLikely benign
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 1421571	NM_002528.7(NTHL1):c.792-2A>G	NTHL1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GConflicting classifications of pathogenicity

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