"GeneDx"[submitter] AND "PTS"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 1204513	NC_000011.10:g.112226192A>G	PTS	Single nucleotide variant	not provided	GLikely benign
Select item 1301470	NC_000011.10:g.112226219C>G	PTS	Single nucleotide variant	not provided	GLikely benign
Select item 1320455	NC_000011.10:g.112226337C>T	LOC130006765, PTS	Single nucleotide variant	not provided	GLikely benign
Select item 1301490	NC_000011.10:g.112226363C>T	LOC130006765, PTS	Single nucleotide variant	not provided	GLikely benign
Select item 2156433	NM_000317.3(PTS):c.11A>G (p.Glu4Gly)	LOC130006765, PTS (E4G)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 449684	NM_000317.3(PTS):c.44C>T (p.Ser15Phe)	LOC130006765, PTS (S15F)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1277260	NM_000317.3(PTS):c.83+84A>T	LOC130006765, PTS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1301515	NM_000317.3(PTS):c.83+190C>A	PTS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 486	NM_000317.3(PTS):c.84-323A>T	PTS	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 649292	NM_000317.3(PTS):c.84-291A>G	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1297387	NM_000317.3(PTS):c.84-7dup	PTS	Duplication (intron variant)	not provided	GBenign
Select item 1230021	NM_000317.3(PTS):c.84-7del	PTS	Deletion (intron variant)	not provided	GBenign
Select item 553378	NM_000317.3(PTS):c.84-3C>G	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 550850	NM_000317.3(PTS):c.118_121del (p.Phe40fs)	PTS (F40fs)	Deletion (frameshift variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GPathogenic
Select item 479	NM_000317.3(PTS):c.155A>G (p.Asn52Ser)	PTS (N52S)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GPathogenic
Select item 302498	NM_000317.3(PTS):c.163+14T>C	PTS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1300547	NM_000317.3(PTS):c.163+121A>G	PTS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1314972	NM_000317.3(PTS):c.163+133G>A	PTS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1303149	NM_000317.3(PTS):c.164-716A>T	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1310415	NM_000317.3(PTS):c.164-672C>T	PTS	Single nucleotide variant (intron variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 1281914	NM_000317.3(PTS):c.164-316C>T	PTS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1291820	NM_000317.3(PTS):c.164-287A>G	PTS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1216486	NM_000317.3(PTS):c.164-258C>A	PTS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1258222	NM_000317.3(PTS):c.164-248C>T	PTS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280771	NM_000317.3(PTS):c.164-97T>C	PTS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1314926	NM_000317.3(PTS):c.187-177A>G	PTS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237176	NM_000317.3(PTS):c.187-81A>G	PTS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1326676	NM_000317.3(PTS):c.187-52G>A	PTS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 463151	NM_000317.3(PTS):c.200C>T (p.Thr67Met)	PTS (T67M)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 372484	NM_000317.3(PTS):c.238A>G (p.Met80Val)	PTS (M80V)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 1321746	NM_000317.3(PTS):c.243+30C>G	PTS	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241030	NM_000317.3(PTS):c.243+94T>A	PTS	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 432083	NM_000317.3(PTS):c.248C>A (p.Ala83Glu)	PTS (A83E)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 480	NM_000317.3(PTS):c.259C>T (p.Pro87Ser)	PTS (P87S)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +2 more	GPathogenic
Select item 372485	NM_000317.3(PTS):c.281A>G (p.Asp94Gly)	PTS (D94G)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 370413	NM_000317.3(PTS):c.297C>A (p.Tyr99Ter)	PTS (Y99*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1303150	NM_000317.3(PTS):c.298T>G (p.Phe100Val)	PTS (F100V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1302929	NM_000317.3(PTS):c.308T>C (p.Val103Ala)	PTS (V103A)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 532010	NM_000317.3(PTS):c.315-3T>C	PTS	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 552175	NM_000317.3(PTS):c.317C>T (p.Thr106Met)	PTS (T106M)	Single nucleotide variant (missense variant)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 555399	NM_000317.3(PTS):c.400G>T (p.Glu134Ter)	PTS (E134*)	Single nucleotide variant (nonsense)	6-Pyruvoyl-tetrahydrobiopterin synthase deficiency +1 more	GConflicting classifications of pathogenicity
Select item 302499	NM_000317.3(PTS):c.405T>C (p.Thr135=)	PTS	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3360527	NM_000317.3(PTS):c.43T>G (p.Ser15Ala)	PTS (S15A)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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Items: 44