C1876161[trait identifier] AND "Foundation for Research in Genetics an - ClinVar - NCBI

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Items: 13

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1073897	NM_000391.4(TPP1):c.1626G>A (p.Trp542Ter)	TPP1 (W542*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
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 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 218336	NM_000391.4(TPP1):c.1376A>C (p.Tyr459Ser)	TPP1 (Y459S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 619137	NM_000391.4(TPP1):c.1080C>A (p.Asp360Glu)	TPP1 (D360E)	Single nucleotide variant (missense variant)	Autosomal recessive spinocerebellar ataxia 7 +1 more	GUncertain significance
Select item 559477	NM_000391.4(TPP1):c.689del (p.Phe230fs)	TPP1 (F230fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
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 242356	NM_000391.4(TPP1):c.457_490del (p.Ser153fs)	TPP1 (S153fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 242357	NM_000391.4(TPP1):c.471C>A (p.Tyr157Ter)	TPP1 (Y157*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 221282	NM_000391.4(TPP1):c.456G>C (p.Arg152Ser)	TPP1 (R152S)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 197664	NM_000391.4(TPP1):c.381-10dup	TPP1	Duplication (intron variant)	Neuronal Ceroid-Lipofuscinosis, Recessive +2 more	GBenign/Likely benign
Select item 559497	NM_000391.4(TPP1):c.184del (p.Ser62fs)	TPP1 (S62fs)	Deletion (frameshift variant)	Neuronal ceroid lipofuscinosis 2	GLikely pathogenic
Select item 1701805	NM_000391.4(TPP1):c.130G>T (p.Glu44Ter)	TPP1 (E44*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2	GPathogenic