"GeneDx"[submitter] AND "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	DENND5A, DNHD1 +723 more	Copy number gain	See cases	GPathogenic
Select item 1256973	NM_000391.4(TPP1):c.*12C>A	TPP1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
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 207597	NM_000391.4(TPP1):c.1664C>A (p.Ala555Asp)	TPP1 (A555D)	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)	not specified +2 more	GConflicting classifications of pathogenicity
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 1693391	NM_000391.4(TPP1):c.1588G>A (p.Glu530Lys)	TPP1 (E530K)	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)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1204442	NM_000391.4(TPP1):c.1552-54C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674455	NM_000391.4(TPP1):c.1551+70C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 370214	NM_000391.4(TPP1):c.1551+1G>C	TPP1	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 188909	NM_000391.4(TPP1):c.1551+1G>A	TPP1	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 2 +1 more	GPathogenic/Likely pathogenic
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 specified +4 more	GBenign
Select item 207594	NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg)	TPP1 (Q509R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 382118	NM_000391.4(TPP1):c.1515A>G (p.Pro505=)	TPP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
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 137706	NM_000391.4(TPP1):c.1497T>C (p.Pro499=)	TPP1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
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 130607	NM_000391.4(TPP1):c.1494C>T (p.Pro498=)	TPP1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 2 +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 1449721	NM_000391.4(TPP1):c.1471del (p.His491fs)	TPP1 (H491fs)	Deletion (frameshift variant)	not provided	GPathogenic/Likely pathogenic
Select item 511041	NM_000391.4(TPP1):c.1470G>A (p.Glu490=)	TPP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 457939	NM_000391.4(TPP1):c.1426-10A>T	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 137705	NM_000391.4(TPP1):c.1426-10A>G	TPP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1180593	NM_000391.4(TPP1):c.1426-78T>C	TPP1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
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 1225378	NM_000391.4(TPP1):c.1407A>G (p.Pro469=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 518067	NM_000391.4(TPP1):c.1407A>T (p.Pro469=)	TPP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 207593	NM_000391.4(TPP1):c.1402A>C (p.Ile468Leu)	TPP1 (I468L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 89086	NM_000391.4(TPP1):c.1397T>G (p.Val466Gly)	TPP1 (V466G)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 137704	NM_000391.4(TPP1):c.1396G>A (p.Val466Met)	TPP1 (V466M)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +3 more	GBenign/Likely benign
Select item 207556	NM_000391.4(TPP1):c.1393A>G (p.Arg465Gly)	TPP1 (R465G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 207555	NM_000391.4(TPP1):c.1383G>A (p.Val461=)	TPP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 189179	NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter)	TPP1 (W460*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2 +2 more	GPathogenic/Likely pathogenic
Select item 510073	NM_000391.4(TPP1):c.1377C>T (p.Tyr459=)	TPP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 382535	NM_000391.4(TPP1):c.1362A>G (p.Ala454=)	TPP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
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 207592	NM_000391.4(TPP1):c.1331C>A (p.Ala444Asp)	TPP1 (A444D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 1089450	NM_000391.4(TPP1):c.1323C>T (p.Tyr441=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 1314473	NM_000391.4(TPP1):c.1319G>C (p.Ser440Thr)	TPP1 (S440T)	Single nucleotide variant (missense variant)	not provided	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 207591	NM_000391.4(TPP1):c.1289T>A (p.Leu430Gln)	TPP1 (L430Q)	Single nucleotide variant (missense variant)	not provided +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 207590	NM_000391.4(TPP1):c.1280C>T (p.Thr427Met)	TPP1 (T427M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 558848	NM_000391.4(TPP1):c.1266+28G>A	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 68738	NM_000391.4(TPP1):c.1266G>C (p.Gln422His)	TPP1 (Q422H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 137703	NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln)	TPP1 (R418Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +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)	not provided +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 1508186	NM_000391.4(TPP1):c.1187C>T (p.Pro396Leu)	TPP1 (P396L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207588	NM_000391.4(TPP1):c.1181A>G (p.Gln394Arg)	TPP1 (Q394R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 68737	NM_000391.4(TPP1):c.1166G>A (p.Gly389Glu)	TPP1 (G389E)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
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 388789	NM_000391.4(TPP1):c.1146-18G>A	TPP1	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 558849	NM_000391.4(TPP1):c.1146-24C>A	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 675087	NM_000391.4(TPP1):c.1146-107C>G	TPP1	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 207587	NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr)	TPP1 (A380T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 137702	NM_000391.4(TPP1):c.1125C>T (p.Arg375=)	TPP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 137701	NM_000391.4(TPP1):c.1117C>G (p.Gln373Glu)	TPP1 (Q373E)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +3 more	GBenign/Likely benign
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 2642	NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr)	TPP1 (C365Y)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 378759	NM_000391.4(TPP1):c.1086G>A (p.Gly362=)	TPP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 516765	NM_000391.4(TPP1):c.1076-7C>T	TPP1	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 681841	NM_000391.4(TPP1):c.1076-17C>T	TPP1	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 495858	NM_000391.4(TPP1):c.1076-18A>G	TPP1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182955	NM_000391.4(TPP1):c.1076-66T>A	TPP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 670738	NM_000391.4(TPP1):c.1075+42C>T	TPP1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign
Select item 558850	NM_000391.4(TPP1):c.1075+28T>C	TPP1	Single nucleotide variant (intron variant)	Autosomal recessive spinocerebellar ataxia 7 +3 more	GBenign
Select item 451169	NM_000391.4(TPP1):c.1069G>A (p.Ala357Thr)	TPP1 (A357T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 382690	NM_000391.4(TPP1):c.1058C>A (p.Thr353Asn)	TPP1 (T353N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1095312	NM_000391.4(TPP1):c.1053T>C (p.Gly351=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 426535	NM_000391.4(TPP1):c.1045G>A (p.Ala349Thr)	TPP1 (A349T)	Single nucleotide variant (missense variant)	not provided +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 305509	NM_000391.4(TPP1):c.1033A>C (p.Met345Leu)	TPP1 (M345L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 225692	NM_000391.4(TPP1):c.1029G>C (p.Glu343Asp)	TPP1 (E343D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198725	NM_000391.4(TPP1):c.1016G>A (p.Arg339Gln)	TPP1 (R339Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 207586	NM_000391.4(TPP1):c.1015C>T (p.Arg339Trp)	TPP1 (R339W)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +3 more	GPathogenic/Likely pathogenic
Select item 573906	NM_000391.4(TPP1):c.1009A>C (p.Ile337Leu)	TPP1 (I337L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207554	NM_000391.4(TPP1):c.1002C>T (p.Ser334=)	TPP1	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
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 510021	NM_000391.4(TPP1):c.960G>C (p.Val320=)	TPP1	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 426392	NM_000391.4(TPP1):c.947C>A (p.Ala316Asp)	TPP1 (A316D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 280248	NM_000391.4(TPP1):c.938_939del (p.Asn313fs)	TPP1 (N313fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1091565	NM_000391.4(TPP1):c.891G>T (p.Arg297=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 207584	NM_000391.4(TPP1):c.890G>A (p.Arg297Gln)	TPP1 (R297Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
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 specified +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 381560	NM_000391.4(TPP1):c.887-18A>G	TPP1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity

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