"Eurofins Ntd Llc (ga)"[submitter] AND "TPP1"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 284359	NM_000391.4(TPP1):c.1558C>A (p.Arg520Ser)	TPP1 (R520S)	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 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 502454	NM_000391.4(TPP1):c.1495C>G (p.Pro499Ala)	TPP1 (P499A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
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 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 501669	NM_000391.4(TPP1):c.1049G>A (p.Arg350Gln)	TPP1 (R350Q)	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 282924	NM_000391.4(TPP1):c.887-10_887-6del	TPP1	Deletion (intron variant)	not specified	GLikely benign
Select item 2649	NM_000391.4(TPP1):c.887-10A>G	TPP1	Single nucleotide variant (intron variant)	not provided +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
Select item 92885	NM_000391.4(TPP1):c.840G>C (p.Leu280=)	TPP1	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 207600	NM_000391.4(TPP1):c.796C>T (p.Arg266Trp)	TPP1 (R266W)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +1 more	GConflicting classifications of pathogenicity
Select item 207553	NM_000391.4(TPP1):c.688-7T>A	TPP1	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 282108	NM_000391.4(TPP1):c.687+20C>T	TPP1	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 287701	NM_000391.4(TPP1):c.665A>G (p.Asn222Ser)	TPP1 (N222S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198075	NM_000391.4(TPP1):c.542C>T (p.Ser181Phe)	TPP1 (S181F)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 198076	NM_000391.4(TPP1):c.523C>T (p.Arg175Cys)	TPP1 (R175C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 198074	NM_000391.4(TPP1):c.510G>A (p.Val170=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2644	NM_000391.4(TPP1):c.509-1G>C	TPP1	Single nucleotide variant (splice acceptor variant)	not provided +4 more	GPathogenic
Select item 197664	NM_000391.4(TPP1):c.381-10dup	TPP1	Duplication (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 68745	NM_000391.4(TPP1):c.299A>G (p.Gln100Arg)	TPP1 (Q100R)	Single nucleotide variant (missense variant)	not specified +5 more	GBenign/Likely benign
Select item 130609	NM_000391.4(TPP1):c.293C>T (p.Thr98Met)	TPP1 (T98M)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 197137	NM_000391.4(TPP1):c.244C>T (p.Leu82=)	TPP1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 196263	NM_000391.4(TPP1):c.118C>T (p.Arg40Cys)	TPP1 (R40C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 92884	NM_000391.4(TPP1):c.14C>A (p.Ala5Asp)	TPP1 (A5D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +4 more	GConflicting classifications of pathogenicity
Select item 207558	NM_000391.4(TPP1):c.7C>A (p.Leu3Ile)	TPP1 (L3I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 516764	NM_000391.4(TPP1):c.6A>T (p.Gly2=)	TPP1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity

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Items: 30