ClinVar for MedGen (Select 902388) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3254378	NM_002528.7(NTHL1):c.40_59del (p.Ser14fs)	NTHL1 (S14fs)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3	GPathogenic
Select item 3254299	NM_002528.7(NTHL1):c.618del (p.Pro207fs)	NTHL1 (P150fs +2 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 3	GPathogenic
Select item 3254240	NM_002528.7(NTHL1):c.55del (p.Ala19fs)	NTHL1 (A19fs)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3	GPathogenic
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 3148701	NM_002528.7(NTHL1):c.288del (p.Asn96fs)	NTHL1 (N96fs)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3	GPathogenic
Select item 3148675	NM_002528.7(NTHL1):c.26_29delinsCGGAG (p.Leu9fs)	NTHL1 (L9fs)	Indel (frameshift variant +1 more)	Familial adenomatous polyposis 3	GPathogenic
Select item 3148665	NM_002528.7(NTHL1):c.199_284del (p.Lys67fs)	NTHL1 (K67fs)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3	GPathogenic
Select item 3148439	NM_002528.7(NTHL1):c.525+3G>A	NTHL1	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 3	GLikely benign
Select item 2889846	NM_002528.7(NTHL1):c.167_168del (p.Leu56fs)	NTHL1 (L56fs)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3 +1 more	GPathogenic
Select item 2747024	NM_002528.7(NTHL1):c.565del (p.Gln189fs)	NTHL1 (Q132fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
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 2677384	NM_002528.7(NTHL1):c.115+2T>G	NTHL1	Single nucleotide variant (splice donor variant)	Familial adenomatous polyposis 3	GLikely pathogenic
Select item 2677383	NM_002528.7(NTHL1):c.355-27C>G	NTHL1	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 3	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 2677381	NM_002528.7(NTHL1):c.35_48dup (p.Pro17fs)	NTHL1 (P17fs)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 3	GLikely pathogenic
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 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 2677378	NM_002528.7(NTHL1):c.343G>A (p.Ala115Thr)	NTHL1 (A115T)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +1 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 2677376	NM_002528.7(NTHL1):c.354+65C>G	NTHL1	Single nucleotide variant (intron variant)	Familial adenomatous polyposis 3	GUncertain significance
Select item 2677375	NM_002528.7(NTHL1):c.-22G>T	LOC130058209, NTHL1 (M1I)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3	GUncertain significance
Select item 2673970	NM_002528.7(NTHL1):c.763del (p.Arg255fs)	NTHL1 (R145fs +2 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 3	GLikely pathogenic
Select item 2673946	NM_002528.7(NTHL1):c.786_791+20del	NTHL1	Deletion (splice donor variant)	Familial adenomatous polyposis 3	GLikely pathogenic
Select item 2673941	NM_002528.7(NTHL1):c.796_808del (p.Leu266fs)	NTHL1 (L156fs +2 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 3	GLikely pathogenic
Select item 2673822	NM_002528.7(NTHL1):c.730_731del (p.Thr244fs)	NTHL1 (T134fs +2 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 3	GPathogenic
Select item 2673821	NM_002528.7(NTHL1):c.542del (p.Ile181fs)	NTHL1 (I124fs +2 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 3	GPathogenic
Select item 2673819	NM_002528.7(NTHL1):c.477_480del (p.Asp160fs)	NTHL1 (D160fs +1 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3	GPathogenic
Select item 2673818	NM_002528.7(NTHL1):c.716del (p.Asn239fs)	NTHL1 (N129fs +2 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 3	GPathogenic
Select item 2673817	NM_002528.7(NTHL1):c.48_60dup (p.Pro21fs)	NTHL1 (P21fs)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 3	GPathogenic
Select item 2673816	NM_002528.7(NTHL1):c.80delinsGG (p.Glu27fs)	NTHL1 (E27fs)	Indel (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2673815	NM_002528.7(NTHL1):c.305_315del (p.Val102fs)	NTHL1 (V102fs)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3	GPathogenic
Select item 2673814	NM_002528.7(NTHL1):c.452_462del (p.Leu151fs)	NTHL1 (L151fs +1 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3	GPathogenic
Select item 2673813	NM_002528.7(NTHL1):c.353dup (p.Val119fs)	NTHL1 (S119fs +1 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 3 +1 more	GPathogenic
Select item 2673812	NM_002528.7(NTHL1):c.763dup (p.Arg255fs)	NTHL1 (R145fs +2 more)	Duplication (frameshift variant)	Familial adenomatous polyposis 3	GPathogenic
Select item 2673811	NM_002528.7(NTHL1):c.357dup (p.Arg120fs)	NTHL1 (R10fs +1 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 3	GPathogenic
Select item 2673810	NM_002528.7(NTHL1):c.729G>A (p.Trp243Ter)	NTHL1 (W133* +2 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 3 +1 more	GPathogenic
Select item 2673809	NM_002528.7(NTHL1):c.668del (p.Gly223fs)	NTHL1 (G113fs +2 more)	Deletion (frameshift variant)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2673808	NM_002528.7(NTHL1):c.559_562del (p.Ile187fs)	NTHL1 (I130fs +2 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 3	GPathogenic
Select item 2673807	NM_002528.7(NTHL1):c.805G>T (p.Glu269Ter)	NTHL1 (E159* +2 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 3	GPathogenic
Select item 2673806	NM_002528.7(NTHL1):c.-9G>T	NTHL1	Single nucleotide variant (5 prime UTR variant)	Familial adenomatous polyposis 3	GPathogenic
Select item 2673805	NM_002528.7(NTHL1):c.565C>T (p.Gln189Ter)	NTHL1 (Q132* +2 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 3	GPathogenic
Select item 2673804	NM_002528.7(NTHL1):c.34_53dup (p.Pro21fs)	NTHL1 (P21fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
Select item 2673803	NM_002528.7(NTHL1):c.322G>T (p.Glu108Ter)	NTHL1 (E108*)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 3	GPathogenic
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 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 2434455	NM_002528.7(NTHL1):c.190G>T (p.Asp64Tyr)	NTHL1 (D64Y)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 3	GUncertain significance
Select item 2431325	NM_002528.7(NTHL1):c.185del (p.Gly62fs)	NTHL1 (A3fs +1 more)	Deletion (frameshift variant)	Familial adenomatous polyposis 3	GPathogenic
Select item 2431314	NM_002528.7(NTHL1):c.199A>T (p.Lys67Ter)	NTHL1 (K67* +1 more)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 3	GPathogenic/Likely pathogenic
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 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 2135297	NM_002528.7(NTHL1):c.469del (p.Leu157fs)	NTHL1 (L157fs +1 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 2065396	NM_002528.7(NTHL1):c.116-2A>C	NTHL1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 2025416	NM_002528.7(NTHL1):c.226del (p.Val76fs)	NTHL1 (V76fs)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3 +2 more	GPathogenic
Select item 2020379	NM_002528.7(NTHL1):c.666G>A (p.Trp222Ter)	NTHL1 (W222* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 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 1780318	NM_002528.7(NTHL1):c.155A>C (p.Lys52Thr)	NTHL1 (K52T)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1776794	NM_002528.7(NTHL1):c.138del (p.Pro46_Val47insTer)	NTHL1	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +1 more	GPathogenic
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 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 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 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 1741266	NM_002528.7(NTHL1):c.428dup (p.Met143fs)	NTHL1 (M33fs +1 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 3 +2 more	GPathogenic
Select item 1517306	NM_002528.7(NTHL1):c.271A>G (p.Ile91Val)	NTHL1 (I91V)	Single nucleotide variant (missense variant +1 more)	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 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 1493429	NM_002528.7(NTHL1):c.4A>C (p.Thr2Pro)	NTHL1 (T2P)	Single nucleotide variant (missense variant +1 more)	Familial adenomatous polyposis 3 +2 more	GUncertain significance
Select item 1484387	NM_002528.7(NTHL1):c.675_676del (p.Ser226fs)	NTHL1 (S169fs +2 more)	Microsatellite (frameshift variant)	Familial adenomatous polyposis 3 +1 more	GPathogenic
Select item 1452364	NM_002528.7(NTHL1):c.568C>T (p.Gln190Ter)	NTHL1 (Q190* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 1415393	NM_002528.7(NTHL1):c.29C>T (p.Thr10Ile)	NTHL1 (T10I)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1415037	NM_002528.7(NTHL1):c.418dup (p.Ala140fs)	NTHL1 (A140fs +1 more)	Duplication (frameshift variant +1 more)	Familial adenomatous polyposis 3 +2 more	GPathogenic
Select item 1405525	NM_002528.7(NTHL1):c.256C>T (p.Gln86Ter)	NTHL1 (Q86*)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1403427	NM_002528.7(NTHL1):c.11T>A (p.Leu4Ter)	NTHL1 (L4*)	Single nucleotide variant (nonsense +1 more)	Familial adenomatous polyposis 3 +1 more	GPathogenic
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 1386054	NM_002528.7(NTHL1):c.634A>C (p.Lys212Gln)	NTHL1 (K102Q +2 more)	Single nucleotide variant (missense variant)	Hereditary cancer-predisposing syndrome +2 more	GConflicting classifications of pathogenicity
Select item 1381420	NM_002528.7(NTHL1):c.526-1G>T	NTHL1	Single nucleotide variant (splice acceptor variant)	Familial adenomatous polyposis 3 +1 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 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 1177373	NM_002528.7(NTHL1):c.745A>T (p.Lys249Ter)	NTHL1 (K139* +2 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 3	GLikely pathogenic
Select item 1076395	NM_002528.7(NTHL1):c.736A>T (p.Lys246Ter)	NTHL1 (K136* +2 more)	Single nucleotide variant (nonsense)	Familial adenomatous polyposis 3 +1 more	GPathogenic
Select item 1075052	NM_002528.7(NTHL1):c.160_161del (p.Gln54fs)	NTHL1 (Q54fs)	Microsatellite (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1074540	NM_002528.7(NTHL1):c.84del (p.Pro30fs)	NTHL1 (P30fs)	Deletion (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
Select item 1070434	NM_002528.7(NTHL1):c.265dup (p.Val89fs)	NTHL1 (V89fs)	Duplication (frameshift variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GPathogenic
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 1068685	NM_002528.7(NTHL1):c.510del (p.Val171fs)	NTHL1 (V171fs +1 more)	Deletion (frameshift variant +1 more)	Familial adenomatous polyposis 3 +2 more	GPathogenic
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 1059297	NM_002528.7(NTHL1):c.89C>T (p.Pro30Leu)	NTHL1 (P30L)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1044505	NM_002528.7(NTHL1):c.-15C>T	NTHL1 (P4S)	Single nucleotide variant (missense variant)	Familial adenomatous polyposis 3 +2 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 1019509	NM_002528.7(NTHL1):c.98G>A (p.Arg33Lys)	NTHL1 (R33K)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 1007172	NM_002528.7(NTHL1):c.94C>T (p.Arg32Trp)	NTHL1 (R32W)	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 1006612	NM_002528.7(NTHL1):c.241C>G (p.Pro81Ala)	NTHL1 (P81A)	Single nucleotide variant (missense variant +1 more)	Hereditary cancer-predisposing syndrome +2 more	GUncertain significance
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 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 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 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

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