C1876161[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar - NCBI

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Items: 18

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1724563	NM_000391.4(TPP1):c.1248_1250delinsT (p.Pro417fs)	TPP1 (P417fs)	Indel (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1724134	NM_000391.4(TPP1):c.1213_1214delinsT (p.Asp405fs)	TPP1 (D405fs)	Indel (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1725187	NM_000391.4(TPP1):c.1199_1200del (p.Thr400fs)	TPP1 (T400fs)	Microsatellite (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1725361	NM_000391.4(TPP1):c.1176_1177del (p.Phe393fs)	TPP1 (F393fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1726982	NM_000391.4(TPP1):c.1104dup (p.Ser369fs)	TPP1 (S369fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1724958	NM_000391.4(TPP1):c.1020_1021del (p.Asn341fs)	TPP1 (N341fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1725375	NM_000391.4(TPP1):c.904G>T (p.Glu302Ter)	TPP1 (E302*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1726649	NM_000391.4(TPP1):c.876C>A (p.Tyr292Ter)	TPP1 (Y292*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 2647	NM_000391.4(TPP1):c.851G>T (p.Gly284Val)	TPP1 (G284V)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1726629	NM_000391.4(TPP1):c.767C>A (p.Ser256Ter)	TPP1 (S256*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1726640	NM_000391.4(TPP1):c.760C>T (p.Gln254Ter)	TPP1 (Q254*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1726625	NM_000391.4(TPP1):c.638C>A (p.Ser213Ter)	TPP1 (S213*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1726424	NM_000391.4(TPP1):c.636_638delinsA (p.Ser213fs)	TPP1 (S213fs)	Indel (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 2643	NM_000391.4(TPP1):c.622C>T (p.Arg208Ter)	TPP1 (R208*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2 +6 more	GPathogenic
Select item 2644	NM_000391.4(TPP1):c.509-1G>C	TPP1	Single nucleotide variant (splice acceptor variant)	Neuronal ceroid lipofuscinosis 2 +4 more	GPathogenic
Select item 1724964	NM_000391.4(TPP1):c.262_270delinsAT (p.Leu88fs)	TPP1 (L88fs)	Indel (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1726106	NM_000391.4(TPP1):c.238dup (p.Leu80fs)	TPP1 (L80fs)	Duplication (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1724577	NM_000391.4(TPP1):c.147del (p.Thr50fs)	TPP1 (T50fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic