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	ABAT, ABCA3 +822 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 150284	GRCh38/hg38 16p13.3-13.12(chr16:43732-13326806)x3	EEF2KMT, ELOB +917 more	Copy number gain	See cases	GPathogenic
Select item 147509	GRCh38/hg38 16p13.3(chr16:46766-4247185)x3	LOC125146383, LOC125146384 +556 more	Copy number gain	See cases	GPathogenic
Select item 144298	GRCh38/hg38 16p13.3-13.13(chr16:46766-11525516)x3	ABAT, ABCA3 +843 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 155643	GRCh38/hg38 16p13.3-13.11(chr16:666662-15743104)x3	ABAT, ABCA3 +926 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 146395	GRCh38/hg38 16p13.3(chr16:1850978-2116369)x3	GFER, HS3ST6 +44 more	Copy number gain	See cases	GUncertain significance
Select item 978603	NC_000016.10:g.1851807_2093151del	GFER, HS3ST6 +43 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 1696839	NC_000016.10:g.1903155_2093402del	GFER, HS3ST6 +40 more	Deletion	Tuberous sclerosis 2	GPathogenic
Select item 152270	GRCh38/hg38 16p13.3(chr16:2025885-2088686)x1	LOC130058209, LOC130058210 +3 more	Copy number loss	See cases	GPathogenic
Select item 1802880	NM_002528.7(NTHL1):c.*31G>A	NTHL1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 1697742	NM_002528.7(NTHL1):c.*30T>C	NTHL1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 3256298	NM_002528.7(NTHL1):c.*19C>T	NTHL1	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
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 663405	NC_000016.9:g.(?_2089915)_(2110824_?)dup	LOC130058209, LOC130058210 +2 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 642056	NC_000016.9:g.(?_2089915)_(2138621_?)dup	LOC130058209, LOC130058210 +2 more	Duplication	Tuberous sclerosis 2	GUncertain significance
Select item 1216727	NM_002528.7(NTHL1):c.*6G>T	NTHL1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 1461151	NM_002528.7(NTHL1):c.912_913dup (p.Ter305SerextTer?)	NTHL1	Microsatellite (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GUncertain significance
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 1376459	NM_002528.7(NTHL1):c.913T>C (p.Ter305Arg)	NTHL1	Single nucleotide variant (stop lost)	not provided	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 2089008	NM_002528.7(NTHL1):c.910C>A (p.Leu304Ile)	NTHL1 (L304I +2 more)	Single nucleotide variant (missense variant)	not provided	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 1008141	NM_002528.7(NTHL1):c.908_909delinsAA (p.Gly303Glu)	NTHL1 (G193E +2 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 1474532	NM_002528.7(NTHL1):c.908G>A (p.Gly303Asp)	NTHL1 (G193D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1020014	NM_002528.7(NTHL1):c.908G>C (p.Gly303Ala)	NTHL1 (G193A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 845921	NM_002528.7(NTHL1):c.908G>T (p.Gly303Val)	NTHL1 (G193V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1046994	NM_002528.7(NTHL1):c.906G>C (p.Gln302His)	NTHL1 (Q245H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1471748	NM_002528.7(NTHL1):c.905A>T (p.Gln302Leu)	NTHL1 (Q192L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1965662	NM_002528.7(NTHL1):c.904C>G (p.Gln302Glu)	NTHL1 (Q302E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 657015	NM_002528.7(NTHL1):c.897_904del (p.Ala300fs)	NTHL1 (A190fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2078229	NM_002528.7(NTHL1):c.903C>G (p.Ala301=)	NTHL1	Single nucleotide variant (synonymous variant)	not provided	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 2022470	NM_002528.7(NTHL1):c.900C>A (p.Ala300=)	NTHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1133571	NM_002528.7(NTHL1):c.897G>C (p.Pro299=)	NTHL1	Single nucleotide variant (synonymous variant)	not provided	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 2127531	NM_002528.7(NTHL1):c.884_888dup (p.Leu297fs)	NTHL1 (L240fs +2 more)	Duplication (frameshift variant)	not provided	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 2854946	NM_002528.7(NTHL1):c.888C>G (p.Ala296=)	NTHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1651646	NM_002528.7(NTHL1):c.888C>T (p.Ala296=)	NTHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1009713	NM_002528.7(NTHL1):c.887C>A (p.Ala296Asp)	NTHL1 (A186D +2 more)	Single nucleotide variant (missense variant)	not provided	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 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 1023906	NM_002528.7(NTHL1):c.884A>C (p.Gln295Pro)	NTHL1 (Q185P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2810668	NM_002528.7(NTHL1):c.877C>A (p.Leu293Ile)	NTHL1 (L183I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2117791	NM_002528.7(NTHL1):c.869_877del (p.His290_Cys292del)	NTHL1	Deletion (inframe_deletion)	not provided	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 1005183	NM_002528.7(NTHL1):c.875G>A (p.Cys292Tyr)	NTHL1 (C182Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1348831	NM_002528.7(NTHL1):c.874T>C (p.Cys292Arg)	NTHL1 (C182R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1038154	NM_002528.7(NTHL1):c.862_874del (p.Arg288fs)	NTHL1 (R178fs +2 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2812693	NM_002528.7(NTHL1):c.873C>G (p.Ala291=)	NTHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1008817	NM_002528.7(NTHL1):c.873del (p.Cys292fs)	NTHL1 (C182fs +2 more)	Deletion (frameshift variant)	not provided	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 1502669	NM_002528.7(NTHL1):c.872C>A (p.Ala291Asp)	NTHL1 (A291D +2 more)	Single nucleotide variant (missense variant)	not provided	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 2089195	NM_002528.7(NTHL1):c.861T>C (p.Pro287=)	NTHL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 846306	NM_002528.7(NTHL1):c.859C>T (p.Pro287Ser)	NTHL1 (P177S +2 more)	Single nucleotide variant (missense variant)	not provided	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

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