TPP1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 151263	GRCh38/hg38 11p15.5-15.4(chr11:61793-10727969)x3	LOC130005128, LOC130005129 +723 more	Copy number gain	See cases	GPathogenic
Select item 144515	GRCh38/hg38 11p15.5-15.1(chr11:446754-18904742)x3	CHID1, CHRNA10 +917 more	Copy number gain	See cases	GPathogenic
Select item 147641	GRCh38/hg38 11p15.4(chr11:6261582-6637999)x3	APBB1, ARFIP2 +41 more	Copy number gain	See cases	GPathogenic
Select item 305486	NM_000391.4(TPP1):c.*1774G>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 879629	NM_000391.4(TPP1):c.*1741G>T	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305487	NM_000391.4(TPP1):c.*1715T>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 305488	NM_000391.4(TPP1):c.*1634T>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305489	NM_000391.4(TPP1):c.*1628G>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GBenign
Select item 305490	NM_000391.4(TPP1):c.*1588C>T	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GBenign
Select item 305491	NM_000391.4(TPP1):c.*1570C>T	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 879993	NM_000391.4(TPP1):c.*1540T>C	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 879995	NM_000391.4(TPP1):c.*1478T>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305492	NM_000391.4(TPP1):c.*1428T>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305493	NM_000391.4(TPP1):c.*1412T>G	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 305494	NM_000391.4(TPP1):c.*1311C>T	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305495	NM_000391.4(TPP1):c.*1302A>T	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 877196	NM_000391.4(TPP1):c.*1282C>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 877197	NM_000391.4(TPP1):c.*1250T>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305496	NM_000391.4(TPP1):c.*1216dup	TPP1	Duplication (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 305497	NM_000391.4(TPP1):c.*1118G>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GBenign
Select item 877198	NM_000391.4(TPP1):c.*1108T>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305498	NM_000391.4(TPP1):c.*1000T>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305499	NM_000391.4(TPP1):c.*986C>G	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GLikely benign
Select item 878234	NM_000391.4(TPP1):c.*984T>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 878235	NM_000391.4(TPP1):c.*937C>T	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 878236	NM_000391.4(TPP1):c.*829C>T	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305500	NM_000391.4(TPP1):c.*785T>G	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 878237	NM_000391.4(TPP1):c.*716C>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 878238	NM_000391.4(TPP1):c.*704C>T	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305501	NM_000391.4(TPP1):c.*668C>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 878239	NM_000391.4(TPP1):c.*346A>G	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 305502	NM_000391.4(TPP1):c.*314del	TPP1	Deletion (3 prime UTR variant)	Neuronal Ceroid-Lipofuscinosis, Recessive	GUncertain significance
Select item 305503	NM_000391.4(TPP1):c.*312T>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 877571	NM_000391.4(TPP1):c.*241T>C	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GBenign
Select item 879687	NM_000391.4(TPP1):c.*223T>C	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	GUncertain significance
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 305504	NM_000391.4(TPP1):c.*71G>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GBenign
Select item 305505	NM_000391.4(TPP1):c.*44T>A	TPP1	Single nucleotide variant (3 prime UTR variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 1256973	NM_000391.4(TPP1):c.*12C>A	TPP1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 1418328	NM_000391.4(TPP1):c.1690T>C (p.Ter564Arg)	TPP1	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 862135	NM_000391.4(TPP1):c.1687C>T (p.Pro563Ser)	TPP1 (P563S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1654404	NM_000391.4(TPP1):c.1686C>T (p.Asn562=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2088654	NM_000391.4(TPP1):c.1679_1683del (p.Leu560fs)	TPP1 (L560fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1091934	NM_000391.4(TPP1):c.1683C>T (p.Leu561=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2150607	NM_000391.4(TPP1):c.1681C>T (p.Leu561Phe)	TPP1 (L561F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1422837	NM_000391.4(TPP1):c.1681C>G (p.Leu561Val)	TPP1 (L561V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 661918	NM_000391.4(TPP1):c.1678_1679del (p.Leu560fs)	TPP1 (L560fs)	Microsatellite (frameshift variant)	Juvenile neuronal ceroid lipofuscinosis +2 more	GPathogenic/Likely pathogenic
Select item 1460825	NM_000391.4(TPP1):c.1676C>G (p.Thr559Ser)	TPP1 (T559S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1401392	NM_000391.4(TPP1):c.1674G>C (p.Lys558Asn)	TPP1 (K558N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1150176	NM_000391.4(TPP1):c.1671G>A (p.Leu557=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 2121808	NM_000391.4(TPP1):c.1670T>C (p.Leu557Pro)	TPP1 (L557P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 939944	NM_000391.4(TPP1):c.1669C>A (p.Leu557Met)	TPP1 (L557M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207597	NM_000391.4(TPP1):c.1664C>A (p.Ala555Asp)	TPP1 (A555D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1151286	NM_000391.4(TPP1):c.1662A>G (p.Pro554=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 370550	NM_000391.4(TPP1):c.1661dup (p.Ala555fs)	TPP1 (A555fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 960462	NM_000391.4(TPP1):c.1660C>T (p.Pro554Ser)	TPP1 (P554S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2107675	NM_000391.4(TPP1):c.1653dup (p.Asn552fs)	TPP1 (N552fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 305506	NM_000391.4(TPP1):c.1653C>G (p.Pro551=)	TPP1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 2129152	NM_000391.4(TPP1):c.1652C>G (p.Pro551Arg)	TPP1 (P551R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1429764	NM_000391.4(TPP1):c.1644G>A (p.Trp548Ter)	TPP1 (W548*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1051286	NM_000391.4(TPP1):c.1643G>A (p.Trp548Ter)	TPP1 (W548*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 556797	NM_000391.4(TPP1):c.1642T>C (p.Trp548Arg)	TPP1 (W548R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 2000919	NM_000391.4(TPP1):c.1641C>G (p.Gly547=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1999856	NM_000391.4(TPP1):c.1641C>T (p.Gly547=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2810695	NM_000391.4(TPP1):c.1638A>G (p.Thr546=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912615	NM_000391.4(TPP1):c.1637C>T (p.Thr546Ile)	TPP1 (T546I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1978915	NM_000391.4(TPP1):c.1635A>G (p.Val545=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1001441	NM_000391.4(TPP1):c.1634T>C (p.Val545Ala)	TPP1 (V545A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2130987	NM_000391.4(TPP1):c.1633G>T (p.Val545Leu)	TPP1 (V545L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2001532	NM_000391.4(TPP1):c.1632T>C (p.Pro544=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 68743	NM_000391.4(TPP1):c.1630C>T (p.Pro544Ser)	TPP1 (P544S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2	Gnot provided
Select item 1073897	NM_000391.4(TPP1):c.1626G>A (p.Trp542Ter)	TPP1 (W542*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 2760597	NM_000391.4(TPP1):c.1623C>T (p.Gly541=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1439502	NM_000391.4(TPP1):c.1621G>A (p.Gly541Ser)	TPP1 (G541S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 552881	NM_000391.4(TPP1):c.1611_1621del (p.Cys537fs)	TPP1 (C537fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1439668	NM_000391.4(TPP1):c.1614T>A (p.Ser538=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2136995	NM_000391.4(TPP1):c.1613C>A (p.Ser538Tyr)	TPP1 (S538Y)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 567546	NM_000391.4(TPP1):c.1613C>G (p.Ser538Cys)	TPP1 (S538C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207602	NM_000391.4(TPP1):c.1610G>A (p.Cys537Tyr)	TPP1 (C537Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2124396	NM_000391.4(TPP1):c.1603G>A (p.Gly535Ser)	TPP1 (G535S)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2749669	NM_000391.4(TPP1):c.1602G>A (p.Gln534=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2096176	NM_000391.4(TPP1):c.1601A>G (p.Gln534Arg)	TPP1 (Q534R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207596	NM_000391.4(TPP1):c.1600C>T (p.Gln534Ter)	TPP1 (Q534*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1382395	NM_000391.4(TPP1):c.1597G>A (p.Gly533Ser)	TPP1 (G533S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 545031	NM_000391.4(TPP1):c.1593dup (p.Glu532fs)	TPP1 (E532fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 527769	NM_000391.4(TPP1):c.1593A>G (p.Val531=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1431069	NM_000391.4(TPP1):c.1592T>C (p.Val531Ala)	TPP1 (V531A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2156472	NM_000391.4(TPP1):c.1591G>A (p.Val531Ile)	TPP1 (V531I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040231	NM_000391.4(TPP1):c.1590G>A (p.Glu530=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1693391	NM_000391.4(TPP1):c.1588G>A (p.Glu530Lys)	TPP1 (E530K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2023941	NM_000391.4(TPP1):c.1585G>A (p.Glu529Lys)	TPP1 (E529K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 847286	NM_000391.4(TPP1):c.1582G>A (p.Asp528Asn)	TPP1 (D528N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783950	NM_000391.4(TPP1):c.1575C>A (p.Ser525=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1358324	NM_000391.4(TPP1):c.1574C>T (p.Ser525Phe)	TPP1 (S525F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827922	NM_000391.4(TPP1):c.1570G>T (p.Glu524Ter)	TPP1 (E524*)	Single nucleotide variant (nonsense)	not provided	GPathogenic

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