"Revvity Omics, Revvity"[submitter] AND "TPP1"[gene] - ClinVar

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Items: 33

	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 188909	NM_000391.4(TPP1):c.1551+1G>A	TPP1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 522104	NM_000391.4(TPP1):c.1497del (p.Gly501fs)	TPP1 (G501fs)	Deletion (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic/Likely pathogenic
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 408909	NM_000391.4(TPP1):c.1466A>G (p.Asn489Ser)	TPP1 (N489S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2141591	NM_000391.4(TPP1):c.1438G>A (p.Val480Met)	TPP1 (V480M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2434219	NM_000391.4(TPP1):c.1425+1G>A	TPP1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
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 2437216	NM_000391.4(TPP1):c.1351G>A (p.Asp451Asn)	TPP1 (D451N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2437218	NM_000391.4(TPP1):c.1334G>A (p.Ser445Asn)	TPP1 (S445N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 846307	NM_000391.4(TPP1):c.1222_1224del (p.Ser408del)	TPP1 (S408del)	Deletion (inframe_deletion)	not provided	GConflicting classifications of pathogenicity
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 1325222	NM_000391.4(TPP1):c.1087del (p.Ala363fs)	TPP1 (A363fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 555109	NM_000391.4(TPP1):c.1076-2A>T	TPP1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 1767474	NM_000391.4(TPP1):c.958G>A (p.Val320Met)	TPP1 (V320M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 457948	NM_000391.4(TPP1):c.866C>A (p.Thr289Asn)	TPP1 (T289N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207581	NM_000391.4(TPP1):c.827A>T (p.Asp276Val)	TPP1 (D276V)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 7 +2 more	GPathogenic
Select item 2643	NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)	TPP1 (R208*)	Single nucleotide variant (nonsense)	Abnormality of the nervous system +6 more	GPathogenic
Select item 68748	NM_000391.4(TPP1):c.617G>A (p.Arg206His)	TPP1 (R206H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2646	NM_000391.4(TPP1):c.616C>T (p.Arg206Cys)	TPP1 (R206C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2437217	NM_000391.4(TPP1):c.545T>C (p.Leu182Pro)	TPP1 (L182P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 280202	NM_000391.4(TPP1):c.509-1G>T	TPP1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2644	NM_000391.4(TPP1):c.509-1G>C	TPP1	Single nucleotide variant (splice acceptor variant)	not provided +5 more	GPathogenic
Select item 242357	NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter)	TPP1 (Y157*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 207569	NM_000391.4(TPP1):c.379C>T (p.Arg127Ter)	TPP1 (R127*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2 +4 more	GPathogenic
Select item 2437219	NM_000391.4(TPP1):c.295G>A (p.Val99Met)	TPP1 (V99M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207551	NM_000391.4(TPP1):c.260A>G (p.Asp87Gly)	TPP1 (D87G)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 553222	NM_000391.4(TPP1):c.225A>G (p.Gln75=)	TPP1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 207566	NM_000391.4(TPP1):c.200C>G (p.Ala67Gly)	TPP1 (A67G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 207564	NM_000391.4(TPP1):c.196C>T (p.Gln66Ter)	TPP1 (Q66*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic

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Items: 33