ClinVar for MedGen (Select 406281) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3600142	NM_000391.4(TPP1):c.95C>G (p.Pro32Arg)	TPP1 (P32R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +1 more	GUncertain significance
Select item 3600141	NM_000391.4(TPP1):c.213del (p.Ser72fs)	TPP1 (S72fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 2 +1 more	GLikely pathogenic
Select item 3600140	NM_000391.4(TPP1):c.635C>A (p.Thr212Asn)	TPP1 (T212N)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +1 more	GUncertain significance
Select item 3600139	NM_000391.4(TPP1):c.916C>T (p.Gln306Ter)	TPP1 (Q306*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2 +1 more	GLikely pathogenic
Select item 3600138	NM_000391.4(TPP1):c.1589_1590del (p.Glu530fs)	TPP1 (E530fs)	Microsatellite (frameshift variant)	Neuronal ceroid lipofuscinosis 2 +1 more	GLikely pathogenic
Select item 3242108	NM_000391.4(TPP1):c.164A>G (p.Gln55Arg)	TPP1 (Q55R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 2911404	NM_000391.4(TPP1):c.496del (p.His166fs)	TPP1 (H166fs)	Deletion (frameshift variant)	Autosomal recessive spinocerebellar ataxia 7 +2 more	GPathogenic/Likely pathogenic
Select item 2691784	NM_000391.4(TPP1):c.1146-199G>A	TPP1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 2	GPathogenic
Select item 2627617	NM_000391.4(TPP1):c.1450dup (p.Ile484fs)	TPP1 (I484fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GPathogenic
Select item 2627616	NM_000391.4(TPP1):c.182_184delinsC (p.Leu61fs)	TPP1 (L61fs)	Indel (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GPathogenic
Select item 2627615	NM_000391.4(TPP1):c.1266_1266+1delinsTACAAACAAACA	TPP1	Indel (splice donor variant)	Neuronal ceroid lipofuscinosis 2	GPathogenic
Select item 2584878	NM_000391.4(TPP1):c.1679T>C (p.Leu560Pro)	TPP1 (L560P)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 2500920	NM_000391.4(TPP1):c.230-2A>G	TPP1	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 2434219	NM_000391.4(TPP1):c.1425+1G>A	TPP1	Single nucleotide variant (splice donor variant)	Autosomal recessive spinocerebellar ataxia 7 +2 more	GLikely pathogenic
Select item 2418966	NM_000391.4(TPP1):c.337dup (p.Ser113fs)	TPP1 (S113fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2154688	NM_000391.4(TPP1):c.646G>A (p.Val216Met)	TPP1 (V216M)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely pathogenic
Select item 2098723	NM_000391.4(TPP1):c.1490del (p.Arg497fs)	TPP1 (R497fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 2 +2 more	GPathogenic/Likely pathogenic
Select item 2052460	NM_000391.4(TPP1):c.146_155del (p.Leu49fs)	TPP1 (L49fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1805012	NM_000391.4(TPP1):c.1012C>G (p.Gln338Glu)	TPP1 (Q338E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1726982	NM_000391.4(TPP1):c.1104dup (p.Ser369fs)	TPP1 (S369fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1726649	NM_000391.4(TPP1):c.876C>A (p.Tyr292Ter)	TPP1 (Y292*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1726640	NM_000391.4(TPP1):c.760C>T (p.Gln254Ter)	TPP1 (Q254*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1726629	NM_000391.4(TPP1):c.767C>A (p.Ser256Ter)	TPP1 (S256*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1726625	NM_000391.4(TPP1):c.638C>A (p.Ser213Ter)	TPP1 (S213*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1726424	NM_000391.4(TPP1):c.636_638delinsA (p.Ser213fs)	TPP1 (S213fs)	Indel (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1726106	NM_000391.4(TPP1):c.238dup (p.Leu80fs)	TPP1 (L80fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1725375	NM_000391.4(TPP1):c.904G>T (p.Glu302Ter)	TPP1 (E302*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1725361	NM_000391.4(TPP1):c.1176_1177del (p.Phe393fs)	TPP1 (F393fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1725187	NM_000391.4(TPP1):c.1199_1200del (p.Thr400fs)	TPP1 (T400fs)	Microsatellite (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1724964	NM_000391.4(TPP1):c.262_270delinsAT (p.Leu88fs)	TPP1 (L88fs)	Indel (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1724958	NM_000391.4(TPP1):c.1020_1021del (p.Asn341fs)	TPP1 (N341fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1724577	NM_000391.4(TPP1):c.147del (p.Thr50fs)	TPP1 (T50fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1724563	NM_000391.4(TPP1):c.1248_1250delinsT (p.Pro417fs)	TPP1 (P417fs)	Indel (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1724134	NM_000391.4(TPP1):c.1213_1214delinsT (p.Asp405fs)	TPP1 (D405fs)	Indel (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1708149	NM_000391.4(TPP1):c.1012C>T (p.Gln338Ter)	TPP1 (Q338*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1705669	NM_000391.4(TPP1):c.1168G>C (p.Gly390Arg)	TPP1 (G390R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 1701805	NM_000391.4(TPP1):c.130G>T (p.Glu44Ter)	TPP1 (E44*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2	GPathogenic
Select item 1686271	NM_000391.4(TPP1):c.899del (p.Gly300fs)	TPP1 (G300fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GPathogenic
Select item 1675144	NM_000391.4(TPP1):c.1243G>A (p.Val415Met)	TPP1 (V415M)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 7 +1 more	GUncertain significance
Select item 1425566	NM_000391.4(TPP1):c.509-6C>G	TPP1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 1424325	NM_000391.4(TPP1):c.1279A>T (p.Thr427Ser)	TPP1 (T427S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1423529	NM_000391.4(TPP1):c.1145G>A (p.Ser382Asn)	TPP1 (S382N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1325221	NM_000391.4(TPP1):c.1016G>T (p.Arg339Leu)	TPP1 (R339L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1190419	NM_000391.4(TPP1):c.1496dup (p.Leu500fs)	TPP1 (L500fs)	Duplication (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1180593	NM_000391.4(TPP1):c.1426-78T>C	TPP1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 1073897	NM_000391.4(TPP1):c.1626G>A (p.Trp542Ter)	TPP1 (W542*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2 +1 more	GPathogenic
Select item 1065450	NM_000391.4(TPP1):c.987_989del (p.Glu329del)	TPP1 (E329del)	Deletion (inframe_deletion)	Neuronal ceroid lipofuscinosis 2	GPathogenic
Select item 1056179	NM_000391.4(TPP1):c.968T>C (p.Val323Ala)	TPP1 (V323A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1051211	NM_000391.4(TPP1):c.1495C>A (p.Pro499Thr)	TPP1 (P499T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1047496	NM_000391.4(TPP1):c.898G>A (p.Gly300Arg)	TPP1 (G300R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1037329	NM_000391.4(TPP1):c.1381G>T (p.Val461Leu)	TPP1 (V461L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1016568	NM_000391.4(TPP1):c.886+5del	TPP1	Deletion (intron variant)	not provided	GUncertain significance
Select item 1011442	NM_000391.4(TPP1):c.593T>C (p.Leu198Pro)	TPP1 (L198P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1007273	NM_000391.4(TPP1):c.79C>G (p.Gln27Glu)	TPP1 (Q27E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1005567	NM_000391.4(TPP1):c.802C>T (p.Arg268Trp)	TPP1 (R268W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1002369	NM_000391.4(TPP1):c.76G>A (p.Asp26Asn)	TPP1 (D26N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1001700	NM_000391.4(TPP1):c.88A>G (p.Thr30Ala)	TPP1 (T30A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1000278	NM_000391.4(TPP1):c.992C>A (p.Ser331Tyr)	TPP1 (S331Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 999039	NM_000391.4(TPP1):c.803G>A (p.Arg268Gln)	TPP1 (R268Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 996968	NM_000391.4(TPP1):c.751T>C (p.Phe251Leu)	TPP1 (F251L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 996031	NM_000391.4(TPP1):c.688-1G>T	TPP1	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 2	GPathogenic
Select item 996030	NM_000391.4(TPP1):c.1340G>C (p.Arg447Pro)	TPP1 (R447P)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 990506	NM_000391.4(TPP1):c.18-7C>T	TPP1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 990505	NM_000391.4(TPP1):c.18-5T>C	TPP1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 990504	NM_000391.4(TPP1):c.35C>T (p.Ala12Val)	TPP1 (A12V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 990503	NM_000391.4(TPP1):c.51C>G (p.Gly17=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990502	NM_000391.4(TPP1):c.508+10A>G	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 990501	NM_000391.4(TPP1):c.514G>A (p.Gly172Arg)	TPP1 (G172R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 990500	NM_000391.4(TPP1):c.807C>T (p.Ala269=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990499	NM_000391.4(TPP1):c.1090G>A (p.Gly364Arg)	TPP1 (G364R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 990498	NM_000391.4(TPP1):c.1434T>C (p.Thr478=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 990497	NM_000391.4(TPP1):c.1570G>A (p.Glu524Lys)	TPP1 (E524K)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 982727	NM_000391.4(TPP1):c.843G>A (p.Met281Ile)	TPP1 (M281I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 974574	NM_000391.4(TPP1):c.533del (p.Pro178fs)	TPP1 (P178fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 972379	NM_000391.4(TPP1):c.1075+5C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 972222	NM_000391.4(TPP1):c.1443T>G (p.Phe481Leu)	TPP1 (F481L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 969895	NM_000391.4(TPP1):c.965C>T (p.Thr322Ile)	TPP1 (T322I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 969357	NM_000391.4(TPP1):c.1087delinsTT (p.Ala363fs)	TPP1 (A363fs)	Indel (frameshift variant)	Autosomal recessive spinocerebellar ataxia 7 +2 more	GPathogenic/Likely pathogenic
Select item 968055	NM_000391.4(TPP1):c.889C>T (p.Arg297Trp)	TPP1 (R297W)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 966723	NM_000391.4(TPP1):c.11A>T (p.Gln4Leu)	TPP1 (Q4L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 966667	NM_000391.4(TPP1):c.230-8C>A	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 965399	NM_000391.4(TPP1):c.1075+2T>C	TPP1	Single nucleotide variant (splice donor variant)	Autosomal recessive spinocerebellar ataxia 7 +2 more	GPathogenic/Likely pathogenic
Select item 954818	NM_000391.4(TPP1):c.1034T>C (p.Met345Thr)	TPP1 (M345T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 953611	NM_000391.4(TPP1):c.90-3C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 953300	NM_000391.4(TPP1):c.770T>C (p.Val257Ala)	TPP1 (V257A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 952907	NM_000391.4(TPP1):c.509-8C>A	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 949676	NM_000391.4(TPP1):c.1266+4C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 948538	NM_000391.4(TPP1):c.294G>A (p.Thr98=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 946736	NM_000391.4(TPP1):c.1663G>A (p.Ala555Thr)	TPP1 (A555T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 946567	NM_000391.4(TPP1):c.1003G>A (p.Ala335Thr)	TPP1 (A335T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 939167	NM_000391.4(TPP1):c.535A>T (p.Thr179Ser)	TPP1 (T179S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 938967	NM_000391.4(TPP1):c.1373G>A (p.Gly458Asp)	TPP1 (G458D)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 879995	NM_000391.4(TPP1):c.*1478T>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 879994	NM_000391.4(TPP1):c.*1508G>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 879993	NM_000391.4(TPP1):c.*1540T>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 879992	NM_000391.4(TPP1):c.*1560C>T	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 879690	NM_000391.4(TPP1):c.1552-14A>C	TPP1	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 879689	NM_000391.4(TPP1):c.*124C>T	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 879688	NM_000391.4(TPP1):c.*171T>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2 +1 more	GUncertain significance
Select item 879687	NM_000391.4(TPP1):c.*223T>C	TPP1	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GUncertain significance

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