C1876161[trait identifier] AND "Counsyl"[submitter] - ClinVar

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Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 370550	NM_000391.4(TPP1):c.1661dup (p.Ala555fs)	TPP1 (A555fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
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 552881	NM_000391.4(TPP1):c.1611_1621del (p.Cys537fs)	TPP1 (C537fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 370467	NM_000391.4(TPP1):c.1552-1G>A	TPP1	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 558183	NM_000391.4(TPP1):c.1551+1G>T	TPP1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 370214	NM_000391.4(TPP1):c.1551+1G>C	TPP1	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 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 370140	NM_000391.4(TPP1):c.1449dup (p.Ile484fs)	TPP1 (I484fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 557022	NM_000391.4(TPP1):c.1449del (p.Ile484fs)	TPP1 (I484fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 2	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 557053	NM_000391.4(TPP1):c.1392_1393del (p.Asn464fs)	TPP1 (N464fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
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 551005	NM_000391.4(TPP1):c.1367_1368del (p.Leu455_Ser456insTer)	TPP1	Deletion (nonsense)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 555768	NM_000391.4(TPP1):c.1267-56_1267-37del	TPP1	Deletion (intron variant)	Neuronal ceroid lipofuscinosis 2	GLikely benign
Select item 370212	NM_000391.4(TPP1):c.1259C>A (p.Ser420Ter)	TPP1 (S420*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 370180	NM_000391.4(TPP1):c.1145+1G>A	TPP1	Single nucleotide variant (splice donor variant)	not provided +1 more	GLikely pathogenic
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 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 551267	NM_000391.4(TPP1):c.1076-1G>A	TPP1	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 2 +1 more	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 552401	NM_000391.4(TPP1):c.1076-2A>G	TPP1	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis +2 more	GPathogenic/Likely pathogenic
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 556332	NM_000391.4(TPP1):c.1042_1047del (p.Ala348_Ala349del)	TPP1	Deletion (inframe_deletion)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 188850	NM_000391.4(TPP1):c.972_979del (p.Ser324fs)	TPP1 (S324fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 280248	NM_000391.4(TPP1):c.938_939del (p.Asn313fs)	TPP1 (N313fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 381560	NM_000391.4(TPP1):c.887-18A>G	TPP1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2648	NM_000391.4(TPP1):c.857A>G (p.Asn286Ser)	TPP1 (N286S)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 552559	NM_000391.4(TPP1):c.833A>C (p.Gln278Pro)	TPP1 (Q278P)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 207582	NM_000391.4(TPP1):c.833A>G (p.Gln278Arg)	TPP1 (Q278R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis +2 more	GPathogenic/Likely pathogenic
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 371488	NM_000391.4(TPP1):c.819del (p.Ser274fs)	TPP1 (S274fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 556877	NM_000391.4(TPP1):c.731T>C (p.Met244Thr)	TPP1 (M244T)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 371022	NM_000391.4(TPP1):c.687+2T>G	TPP1	Single nucleotide variant (splice donor variant)	Abnormality of the nervous system +1 more	GPathogenic/Likely pathogenic
Select item 371293	NM_000391.4(TPP1):c.640C>T (p.Gln214Ter)	TPP1 (Q214*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2 +1 more	GPathogenic
Select item 370272	NM_000391.4(TPP1):c.609dup (p.Val204fs)	TPP1 (V204fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 2 +1 more	GPathogenic/Likely pathogenic
Select item 68747	NM_000391.4(TPP1):c.605C>T (p.Pro202Leu)	TPP1 (P202L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
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 207574	NM_000391.4(TPP1):c.509-1G>A	TPP1	Single nucleotide variant (splice acceptor variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 552911	NM_000391.4(TPP1):c.508+2dup	TPP1	Duplication (splice donor variant)	Neuronal ceroid lipofuscinosis 2	GUncertain significance
Select item 554257	NM_000391.4(TPP1):c.457T>C (p.Ser153Pro)	TPP1 (S153P)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 550623	NM_000391.4(TPP1):c.422dup (p.Tyr141Ter)	TPP1 (Y141*)	Duplication (nonsense)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 495859	NM_000391.4(TPP1):c.381-2A>G	TPP1	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GLikely pathogenic
Select item 68746	NM_000391.4(TPP1):c.380G>A (p.Arg127Gln)	TPP1 (R127Q)	Single nucleotide variant (missense variant)	not provided +2 more	GLikely pathogenic
Select item 554563	NM_000391.4(TPP1):c.357dup (p.Leu120fs)	TPP1 (L120fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 207561	NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)	TPP1 (L104*)	Single nucleotide variant (nonsense)	Autosomal recessive spinocerebellar ataxia 7 +3 more	GPathogenic
Select item 370662	NM_000391.4(TPP1):c.230-1G>C	TPP1	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 207567	NM_000391.4(TPP1):c.229G>C (p.Gly77Arg)	TPP1 (G77R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
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 552025	NM_000391.4(TPP1):c.184_185del (p.Ser62fs)	TPP1 (S62fs)	Microsatellite (frameshift variant)	Neuronal ceroid lipofuscinosis +2 more	GPathogenic/Likely pathogenic
Select item 553258	NM_000391.4(TPP1):c.17+1G>A	TPP1	Single nucleotide variant (splice donor variant)	Neuronal ceroid lipofuscinosis 2 +1 more	GLikely pathogenic
Select item 92884	NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)	TPP1 (A5D)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +4 more	GConflicting classifications of pathogenicity

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Items: 53