"Natera, Inc."[submitter] AND "TPP1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 305506	NM_000391.4(TPP1):c.1653C>G (p.Pro551=)	TPP1	Single nucleotide variant (synonymous variant)	TPP1-related disorder +3 more	GConflicting classifications of pathogenicity
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 207596	NM_000391.4(TPP1):c.1600C>T (p.Gln534Ter)	TPP1 (Q534*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 545031	NM_000391.4(TPP1):c.1593dup (p.Glu532fs)	TPP1 (E532fs)	Duplication (frameshift variant)	not provided	GPathogenic
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 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 655186	NM_000391.4(TPP1):c.1559G>A (p.Arg520His)	TPP1 (R520H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 639975	NM_000391.4(TPP1):c.1558C>T (p.Arg520Cys)	TPP1 (R520C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 194169	NM_000391.4(TPP1):c.1552-9C>T	TPP1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 452679	NM_000391.4(TPP1):c.1551+5G>A	TPP1	Single nucleotide variant (intron variant)	not provided +1 more	GUncertain significance
Select item 553269	NM_000391.4(TPP1):c.1547_1548del (p.Leu515_Phe516insTer)	TPP1	Deletion (nonsense)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 207595	NM_000391.4(TPP1):c.1543C>T (p.Leu515Phe)	TPP1 (L515F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 130608	NM_000391.4(TPP1):c.1542A>T (p.Gly514=)	TPP1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 207594	NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg)	TPP1 (Q509R)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 551316	NM_000391.4(TPP1):c.1525C>T (p.Gln509Ter)	TPP1 (Q509*)	Single nucleotide variant (nonsense)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 457943	NM_000391.4(TPP1):c.1496C>G (p.Pro499Arg)	TPP1 (P499R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 408910	NM_000391.4(TPP1):c.1496C>T (p.Pro499Leu)	TPP1 (P499L)	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 502454	NM_000391.4(TPP1):c.1495C>G (p.Pro499Ala)	TPP1 (P499A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 130607	NM_000391.4(TPP1):c.1494C>T (p.Pro498=)	TPP1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 457942	NM_000391.4(TPP1):c.1490G>A (p.Arg497His)	TPP1 (R497H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 457941	NM_000391.4(TPP1):c.1489C>T (p.Arg497Cys)	TPP1 (R497C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 408909	NM_000391.4(TPP1):c.1466A>G (p.Asn489Ser)	TPP1 (N489S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 457940	NM_000391.4(TPP1):c.1451T>C (p.Ile484Thr)	TPP1 (I484T)	Single nucleotide variant (missense 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 527746	NM_000391.4(TPP1):c.1435C>G (p.Pro479Ala)	TPP1 (P479A)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 990498	NM_000391.4(TPP1):c.1434T>C (p.Thr478=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 827992	NM_000391.4(TPP1):c.1425G>A (p.Ser475=)	TPP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GUncertain significance
Select item 68741	NM_000391.4(TPP1):c.1424C>T (p.Ser475Leu)	TPP1 (S475L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +2 more	GPathogenic/Likely pathogenic
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 189179	NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter)	TPP1 (W460*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 646861	NM_000391.4(TPP1):c.1351G>T (p.Asp451Tyr)	TPP1 (D451Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645	NM_000391.4(TPP1):c.1340G>A (p.Arg447His)	TPP1 (R447H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 427077	NM_000391.4(TPP1):c.1339C>T (p.Arg447Cys)	TPP1 (R447C)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 457938	NM_000391.4(TPP1):c.1328A>G (p.Asn443Ser)	TPP1 (N443S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 457937	NM_000391.4(TPP1):c.1307T>C (p.Leu436Pro)	TPP1 (L436P)	Single nucleotide variant (missense variant)	Seizure +2 more	GUncertain significance
Select item 207601	NM_000391.4(TPP1):c.1303C>G (p.His435Asp)	TPP1 (H435D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 590066	NM_000391.4(TPP1):c.1300C>T (p.Pro434Ser)	TPP1 (P434S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 207591	NM_000391.4(TPP1):c.1289T>A (p.Leu430Gln)	TPP1 (L430Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 305507	NM_000391.4(TPP1):c.1281G>A (p.Thr427=)	TPP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 130606	NM_000391.4(TPP1):c.1266+5G>A	TPP1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 2 +4 more	GBenign/Likely benign
Select item 949676	NM_000391.4(TPP1):c.1266+4C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 68738	NM_000391.4(TPP1):c.1266G>C (p.Gln422His)	TPP1 (Q422H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +3 more	GPathogenic
Select item 137703	NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln)	TPP1 (R418Q)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 7 +4 more	GBenign/Likely benign
Select item 576289	NM_000391.4(TPP1):c.1252C>T (p.Arg418Trp)	TPP1 (R418W)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 193583	NM_000391.4(TPP1):c.1241A>T (p.Asn414Ile)	TPP1 (N414I)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +3 more	GUncertain significance
Select item 207589	NM_000391.4(TPP1):c.1217A>G (p.Tyr406Cys)	TPP1 (Y406C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 408908	NM_000391.4(TPP1):c.1192C>T (p.Leu398Phe)	TPP1 (L398F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 429925	NM_000391.4(TPP1):c.1146-1G>A	TPP1	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis +1 more	GLikely pathogenic
Select item 663364	NM_000391.4(TPP1):c.1145G>C (p.Ser382Thr)	TPP1 (S382T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207587	NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr)	TPP1 (A380T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 576905	NM_000391.4(TPP1):c.1123C>T (p.Arg375Cys)	TPP1 (R375C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 419889	NM_000391.4(TPP1):c.1116C>G (p.His372Gln)	TPP1 (H372Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 972379	NM_000391.4(TPP1):c.1075+5C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 965399	NM_000391.4(TPP1):c.1075+2T>C	TPP1	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 856651	NM_000391.4(TPP1):c.1069G>C (p.Ala357Pro)	TPP1 (A357P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 501669	NM_000391.4(TPP1):c.1049G>A (p.Arg350Gln)	TPP1 (R350Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 552886	NM_000391.4(TPP1):c.1048C>T (p.Arg350Trp)	TPP1 (R350W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 426535	NM_000391.4(TPP1):c.1045G>A (p.Ala349Thr)	TPP1 (A349T)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 130605	NM_000391.4(TPP1):c.1044C>T (p.Ala348=)	TPP1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 2 +4 more	GBenign/Likely benign
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 305509	NM_000391.4(TPP1):c.1033A>C (p.Met345Leu)	TPP1 (M345L)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
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 1000278	NM_000391.4(TPP1):c.992C>A (p.Ser331Tyr)	TPP1 (S331Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207585	NM_000391.4(TPP1):c.992C>T (p.Ser331Phe)	TPP1 (S331F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 969895	NM_000391.4(TPP1):c.965C>T (p.Thr322Ile)	TPP1 (T322I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 662224	NM_000391.4(TPP1):c.956A>G (p.His319Arg)	TPP1 (H319R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426392	NM_000391.4(TPP1):c.947C>A (p.Ala316Asp)	TPP1 (A316D)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +2 more	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 207584	NM_000391.4(TPP1):c.890G>A (p.Arg297Gln)	TPP1 (R297Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +2 more	GUncertain significance
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 558852	NM_000391.4(TPP1):c.887-8_887-6del	TPP1	Deletion (intron variant)	not provided	GBenign
Select item 305513	NM_000391.4(TPP1):c.887-7_887-6del	TPP1	Deletion (intron variant)	not provided +2 more	GBenign
Select item 305512	NM_000391.4(TPP1):c.887-6del	TPP1	Deletion (intron variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +1 more	GConflicting classifications of pathogenicity
Select item 1016568	NM_000391.4(TPP1):c.886+5del	TPP1	Deletion (intron variant)	not provided	GUncertain significance
Select item 2647	NM_000391.4(TPP1):c.851G>T (p.Gly284Val)	TPP1 (G284V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +2 more	GPathogenic
Select item 92885	NM_000391.4(TPP1):c.840G>C (p.Leu280=)	TPP1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 207581	NM_000391.4(TPP1):c.827A>T (p.Asp276Val)	TPP1 (D276V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +2 more	GPathogenic
Select item 570396	NM_000391.4(TPP1):c.812T>C (p.Ile271Thr)	TPP1 (I271T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 527742	NM_000391.4(TPP1):c.808G>A (p.Gly270Arg)	TPP1 (G270R)	Single nucleotide variant (missense variant)	not provided	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 999039	NM_000391.4(TPP1):c.803G>A (p.Arg268Gln)	TPP1 (R268Q)	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 207580	NM_000391.4(TPP1):c.797G>A (p.Arg266Gln)	TPP1 (R266Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 207600	NM_000391.4(TPP1):c.796C>T (p.Arg266Trp)	TPP1 (R266W)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 649155	NM_000391.4(TPP1):c.782T>C (p.Val261Ala)	TPP1 (V261A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 207579	NM_000391.4(TPP1):c.776G>A (p.Arg259His)	TPP1 (R259H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 572977	NM_000391.4(TPP1):c.775C>T (p.Arg259Cys)	TPP1 (R259C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	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 568573	NM_000391.4(TPP1):c.734G>A (p.Arg245His)	TPP1 (R245H)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +2 more	GUncertain significance
Select item 130611	NM_000391.4(TPP1):c.733C>T (p.Arg245Cys)	TPP1 (R245C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 646653	NM_000391.4(TPP1):c.694G>A (p.Glu232Lys)	TPP1 (E232K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 527730	NM_000391.4(TPP1):c.687+6C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 287701	NM_000391.4(TPP1):c.665A>G (p.Asn222Ser)	TPP1 (N222S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207578	NM_000391.4(TPP1):c.638C>T (p.Ser213Leu)	TPP1 (S213L)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 7 +2 more	GConflicting classifications of pathogenicity

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