C1836474[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 207594	NM_000391.4(TPP1):c.1526A>G (p.Gln509Arg)	TPP1 (Q509R)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +3 more	GConflicting classifications of pathogenicity
Select item 457942	NM_000391.4(TPP1):c.1490G>A (p.Arg497His)	TPP1 (R497H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 189179	NM_000391.4(TPP1):c.1379G>A (p.Trp460Ter)	TPP1 (W460*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2 +2 more	GPathogenic/Likely pathogenic
Select item 207590	NM_000391.4(TPP1):c.1280C>T (p.Thr427Met)	TPP1 (T427M)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 1424325	NM_000391.4(TPP1):c.1279A>T (p.Thr427Ser)	TPP1 (T427S)	Single nucleotide variant (missense variant)	not provided +2 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 68738	NM_000391.4(TPP1):c.1266G>C (p.Gln422His)	TPP1 (Q422H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic
Select item 137703	NM_000391.4(TPP1):c.1253G>A (p.Arg418Gln)	TPP1 (R418Q)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +4 more	GBenign/Likely benign
Select item 1423529	NM_000391.4(TPP1):c.1145G>A (p.Ser382Asn)	TPP1 (S382N)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 207587	NM_000391.4(TPP1):c.1138G>A (p.Ala380Thr)	TPP1 (A380T)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
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 130605	NM_000391.4(TPP1):c.1044C>T (p.Ala348=)	TPP1	Single nucleotide variant (synonymous variant)	Neuronal ceroid lipofuscinosis 2 +4 more	GBenign/Likely benign
Select item 305509	NM_000391.4(TPP1):c.1033A>C (p.Met345Leu)	TPP1 (M345L)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 806611	NM_000391.4(TPP1):c.859A>G (p.Ile287Val)	TPP1 (I287V)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
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 207581	NM_000391.4(TPP1):c.827A>T (p.Asp276Val)	TPP1 (D276V)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +2 more	GPathogenic
Select item 207579	NM_000391.4(TPP1):c.776G>A (p.Arg259His)	TPP1 (R259H)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
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 1425566	NM_000391.4(TPP1):c.509-6C>G	TPP1	Single nucleotide variant (intron variant)	Neuronal ceroid lipofuscinosis 2 +2 more	GConflicting classifications of pathogenicity
Select item 859613	NM_000391.4(TPP1):c.481C>T (p.Gln161Ter)	TPP1 (Q161*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis +3 more	GPathogenic/Likely pathogenic
Select item 644051	NM_000391.4(TPP1):c.437C>T (p.Thr146Met)	TPP1 (T146M)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 378757	NM_000391.4(TPP1):c.435T>C (p.Pro145=)	TPP1	Single nucleotide variant (synonymous variant)	Autosomal recessive spinocerebellar ataxia 7 +3 more	GBenign/Likely benign
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 554563	NM_000391.4(TPP1):c.357dup (p.Leu120fs)	TPP1 (L120fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 207568	NM_000391.4(TPP1):c.319G>A (p.Gly107Arg)	TPP1 (G107R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 207561	NM_000391.4(TPP1):c.311T>A (p.Leu104Ter)	TPP1 (L104*)	Single nucleotide variant (nonsense)	Neuronal ceroid lipofuscinosis 2 +3 more	GPathogenic
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 137698	NM_000391.4(TPP1):c.185C>T (p.Ser62Leu)	TPP1 (S62L)	Single nucleotide variant (missense variant)	Neuronal ceroid lipofuscinosis 2 +4 more	GBenign/Likely benign
Select item 207560	NM_000391.4(TPP1):c.101G>A (p.Gly34Asp)	TPP1 (G34D)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 844878	NM_000391.4(TPP1):c.53A>T (p.Lys18Ile)	TPP1 (K18I)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance

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Items: 31