ClinVar for MedGen (Select 902388) - ClinVar

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Items: 39

VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24344551.	NM_002528.7(NTHL1):c.190G>T (p.Asp64Tyr) GRCh37: Chr16:2096293 GRCh38: Chr16:2046292	NTHL1	D64Y	Familial adenomatous polyposis 3	Uncertain significance (Sep 24, 2022)	criteria provided, single submitter
Select item 24313252.	NM_002528.7(NTHL1):c.185del (p.Gly62fs) GRCh37: Chr16:2096298 GRCh38: Chr16:2046297	NTHL1	A3fs, G62fs	Familial adenomatous polyposis 3	Pathogenic (Jan 19, 2023)	criteria provided, single submitter
Select item 24313143.	NM_002528.7(NTHL1):c.199A>T (p.Lys67Ter) GRCh37: Chr16:2096284 GRCh38: Chr16:2046283	NTHL1	K67*, R7S	Familial adenomatous polyposis 3	Pathogenic (Jan 19, 2023)	criteria provided, single submitter
Select item 13123384.	NM_002528.7(NTHL1):c.614C>A (p.Ala205Glu) GRCh37: Chr16:2093639 GRCh38: Chr16:2043638	NTHL1	A95E, A148E, A205E	Familial adenomatous polyposis 3, not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 11773735.	NM_002528.7(NTHL1):c.745A>T (p.Lys249Ter) GRCh37: Chr16:2090180 GRCh38: Chr16:2040179	NTHL1	K139, K192, K249*	Familial adenomatous polyposis 3	Likely pathogenic (May 3, 2021)	criteria provided, single submitter
Select item 10763956.	NM_002528.7(NTHL1):c.736A>T (p.Lys246Ter) GRCh37: Chr16:2090189 GRCh38: Chr16:2040188	NTHL1	K136, K189, K246*	Familial adenomatous polyposis 3, not provided	Pathogenic (Mar 1, 2023)	criteria provided, multiple submitters, no conflicts
Select item 10071727.	NM_002528.7(NTHL1):c.94C>T (p.Arg32Trp) GRCh37: Chr16:2097731 GRCh38: Chr16:2047730	NTHL1	R32W	Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Oct 14, 2021)	criteria provided, multiple submitters, no conflicts
Select item 10066128.	NM_002528.7(NTHL1):c.241C>G (p.Pro81Ala) GRCh37: Chr16:2096242 GRCh38: Chr16:2046241	NTHL1	P81A	Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Nov 30, 2022)	criteria provided, multiple submitters, no conflicts
Select item 9975969.	NM_002528.7(NTHL1):c.661G>A (p.Ala221Thr) GRCh37: Chr16:2093592 GRCh38: Chr16:2043591	NTHL1	A111T, A164T, A221T	Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome	Uncertain significance (May 21, 2022)	criteria provided, multiple submitters, no conflicts
Select item 95899510.	NM_002528.7(NTHL1):c.116-9T>A GRCh37: Chr16:2096376 GRCh38: Chr16:2046375	NTHL1		Familial adenomatous polyposis 3, not provided	Uncertain significance (Jan 26, 2022)	criteria provided, multiple submitters, no conflicts
Select item 85644811.	NM_002528.7(NTHL1):c.673G>A (p.Val225Met) GRCh37: Chr16:2093580 GRCh38: Chr16:2043579	NTHL1	V115M, V168M, V225M	not provided, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3	Uncertain significance (Apr 27, 2023)	criteria provided, multiple submitters, no conflicts
Select item 85108712.	NM_002528.7(NTHL1):c.349C>A (p.Pro117Thr) GRCh37: Chr16:2096134 GRCh38: Chr16:2046133	NTHL1	P117T	not specified, not provided, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3	Uncertain significance (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 77696313.	NM_002528.7(NTHL1):c.116-10C>G GRCh37: Chr16:2096377 GRCh38: Chr16:2046376	NTHL1		Familial adenomatous polyposis 3, not specified, not provided	Benign/Likely benign (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 76355414.	NM_002528.7(NTHL1):c.115+9G>A GRCh37: Chr16:2097701 GRCh38: Chr16:2047700	NTHL1		Familial adenomatous polyposis 3, not provided	Likely benign (Aug 19, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66597115.	NM_002528.7(NTHL1):c.526-1G>A GRCh37: Chr16:2093728 GRCh38: Chr16:2043727	NTHL1		Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, not provided	Pathogenic/Likely pathogenic (Feb 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 66491616.	NM_002528.7(NTHL1):c.31C>T (p.Arg11Trp) GRCh37: Chr16:2097794 GRCh38: Chr16:2047793	NTHL1	R11W	Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Feb 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 66472917.	NM_002528.7(NTHL1):c.445C>T (p.Arg149Trp) GRCh37: Chr16:2094711 GRCh38: Chr16:2044710	NTHL1	R149W, R39W	not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (May 8, 2023)	criteria provided, multiple submitters, no conflicts
Select item 66416118.	NM_002528.7(NTHL1):c.20G>C (p.Arg7Thr) GRCh37: Chr16:2097805 GRCh38: Chr16:2047804	NTHL1	R7T	Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Feb 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 66124019.	NM_002528.7(NTHL1):c.46G>C (p.Gly16Arg) GRCh37: Chr16:2097779 GRCh38: Chr16:2047778	NTHL1	G16R	not provided, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome	Uncertain significance (Sep 14, 2022)	criteria provided, multiple submitters, no conflicts
Select item 66039520.	NM_002528.7(NTHL1):c.577G>A (p.Gly193Ser) GRCh37: Chr16:2093676 GRCh38: Chr16:2043675	NTHL1	G83S, G193S, G136S	Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, not provided, not specified	Uncertain significance (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 66019621.	NM_002528.7(NTHL1):c.358C>G (p.Arg120Gly) GRCh37: Chr16:2094798 GRCh38: Chr16:2044797	NTHL1	R10G, R120G	Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Feb 10, 2023)	criteria provided, multiple submitters, no conflicts
Select item 65900522.	NM_002528.7(NTHL1):c.746A>G (p.Lys249Arg) GRCh37: Chr16:2090179 GRCh38: Chr16:2040178	NTHL1	K192R, K139R, K249R	Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, not provided, not specified	Uncertain significance (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 65767223.	NM_002528.7(NTHL1):c.763C>T (p.Arg255Cys) GRCh37: Chr16:2090162 GRCh38: Chr16:2040161	NTHL1	R198C, R255C, R145C	Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Oct 27, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65688424.	NM_002528.7(NTHL1):c.115+1G>A GRCh37: Chr16:2097709 GRCh38: Chr16:2047708	NTHL1		not provided, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome	Pathogenic/Likely pathogenic (Jul 18, 2023)	criteria provided, multiple submitters, no conflicts
Select item 65507625.	NM_002528.7(NTHL1):c.769G>A (p.Ala257Thr) GRCh37: Chr16:2090156 GRCh38: Chr16:2040155	NTHL1	A200T, A147T, A257T	Familial adenomatous polyposis 3, not specified, Hereditary cancer-predisposing syndrome, not provided	Conflicting interpretations of pathogenicity (Aug 15, 2023)	criteria provided, conflicting interpretations
Select item 65139926.	NM_002528.7(NTHL1):c.105G>C (p.Glu35Asp) GRCh37: Chr16:2097720 GRCh38: Chr16:2047719	NTHL1	E35D	Familial adenomatous polyposis 3, not provided	Uncertain significance (May 31, 2023)	criteria provided, multiple submitters, no conflicts
Select item 65137827.	NM_002528.7(NTHL1):c.455C>A (p.Thr152Lys) GRCh37: Chr16:2094701 GRCh38: Chr16:2044700	NTHL1	T42K, T152K	Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Nov 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 65092128.	NM_002528.7(NTHL1):c.620C>T (p.Pro207Leu) GRCh37: Chr16:2093633 GRCh38: Chr16:2043632	NTHL1	P150L, P207L, P97L	Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Aug 17, 2023)	criteria provided, multiple submitters, no conflicts
Select item 64976829.	NM_002528.7(NTHL1):c.680G>A (p.Gly227Asp) GRCh37: Chr16:2093573 GRCh38: Chr16:2043572	NTHL1	G227D, G170D, G117D	not provided, not specified, Hereditary cancer-predisposing syndrome	Uncertain significance (Nov 2, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64446830.	NM_002528.7(NTHL1):c.7G>T (p.Ala3Ser) GRCh37: Chr16:2097818 GRCh38: Chr16:2047817	NTHL1	A3S	Familial adenomatous polyposis 3, not provided, Hereditary cancer-predisposing syndrome	Uncertain significance (Jul 6, 2022)	criteria provided, multiple submitters, no conflicts
Select item 64141331.	NM_002528.7(NTHL1):c.149C>T (p.Pro50Leu) GRCh37: Chr16:2096334 GRCh38: Chr16:2046333	NTHL1	P50L	Hereditary cancer-predisposing syndrome, not provided	Uncertain significance (Feb 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 63957332.	NM_002528.7(NTHL1):c.782G>A (p.Trp261Ter) GRCh37: Chr16:2090143 GRCh38: Chr16:2040142	NTHL1	W151, W204, W261*	not provided, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3	Likely pathogenic (Jun 5, 2023)	criteria provided, multiple submitters, no conflicts
Select item 62018233.	NM_002528.7(NTHL1):c.835C>T (p.Gln279Ter) GRCh37: Chr16:2090005 GRCh38: Chr16:2040004	NTHL1	Q279, Q222, Q169*	Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3, not provided	Pathogenic/Likely pathogenic (Aug 15, 2023)	criteria provided, multiple submitters, no conflicts
Select item 58735834.	NM_002528.7(NTHL1):c.832G>A (p.Gly278Ser) GRCh37: Chr16:2090008 GRCh38: Chr16:2040007	NTHL1	G278S, G168S, G221S	not provided, Familial adenomatous polyposis 3, Hereditary cancer-predisposing syndrome	Uncertain significance (Mar 9, 2023)	criteria provided, multiple submitters, no conflicts
Select item 58735735.	NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr) GRCh37: Chr16:2094653 GRCh38: Chr16:2044652	NTHL1	I168T, I58T	Hereditary cancer-predisposing syndrome, not specified, Familial adenomatous polyposis 3, not provided	Conflicting interpretations of pathogenicity (Aug 15, 2023)	criteria provided, conflicting interpretations
Select item 54588536.	NM_002528.7(NTHL1):c.211dup (p.Ala71fs) GRCh37: Chr16:2096271-2096272 GRCh38: Chr16:2046270-2046271	NTHL1	A71fs	not provided, Hereditary cancer-predisposing syndrome, Familial adenomatous polyposis 3	Pathogenic/Likely pathogenic (Oct 22, 2022)	criteria provided, multiple submitters, no conflicts
Select item 49914537.	NM_002528.7(NTHL1):c.274C>T (p.Arg92Cys) GRCh37: Chr16:2096209 GRCh38: Chr16:2046208	NTHL1	R92C	Familial adenomatous polyposis 3, not provided, Hereditary cancer-predisposing syndrome, not specified	Conflicting interpretations of pathogenicity (Aug 15, 2023)	criteria provided, conflicting interpretations
Select item 21809238.	NM_002528.7(NTHL1):c.685+1G>A GRCh37: Chr16:2093567 GRCh38: Chr16:2043566	NTHL1		Familial adenomatous polyposis 3, not provided	Pathogenic/Likely pathogenic (Feb 11, 2022)	criteria provided, multiple submitters, no conflicts
Select item 19231939.	NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) GRCh37: Chr16:2096239 GRCh38: Chr16:2046238	NTHL1	Q82*	Familial adenomatous polyposis 3, not provided, Hereditary cancer-predisposing syndrome	Conflicting interpretations of pathogenicity (Aug 15, 2023)	criteria provided, conflicting interpretations

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Items: 39