C0268164[trait identifier] AND "Myriad Genetics, Inc."[submitter] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 140583	NM_000030.3(AGXT):c.33dup (p.Lys12fs)	AGXT (K12fs)	Duplication (frameshift variant)	AGXT-related condition +4 more	GPathogenic
Select item 983726	NM_000030.3(AGXT):c.198C>A (p.Tyr66Ter)	AGXT (Y66*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GPathogenic/Likely pathogenic
Select item 1725503	NM_000030.3(AGXT):c.239_251del (p.Gly80fs)	AGXT (G80fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 983727	NM_000030.3(AGXT):c.252T>A (p.Cys84Ter)	AGXT (C84*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 1726291	NM_000030.3(AGXT):c.259del (p.Glu87fs)	AGXT (E87fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 1725601	NM_000030.3(AGXT):c.279del (p.Leu94fs)	AGXT (L94fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 983728	NM_000030.3(AGXT):c.358G>T (p.Gly120Ter)	AGXT (G120*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 971513	NM_000030.3(AGXT):c.374_381del (p.Pro125fs)	AGXT (P125fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 983729	NM_000030.3(AGXT):c.412G>T (p.Glu138Ter)	AGXT (E138*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 983730	NM_000030.3(AGXT):c.439A>T (p.Lys147Ter)	AGXT (K147*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 40166	NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)	AGXT (G170R)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 1725119	NM_000030.3(AGXT):c.528C>A (p.Tyr176Ter)	AGXT (Y176*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 1725188	NM_000030.3(AGXT):c.536delinsACTGGAGG (p.Leu179fs)	AGXT (L179fs)	Indel (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 1725026	NM_000030.3(AGXT):c.579_580del (p.Tyr194fs)	AGXT (Y194fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 983731	NM_000030.3(AGXT):c.653C>A (p.Ser218Ter)	AGXT (S218*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 5647	NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)	AGXT (R233C)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 1725682	NM_000030.3(AGXT):c.706A>T (p.Lys236Ter)	AGXT (K236*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 5646	NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)	AGXT (I244T)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +3 more	GPathogenic
Select item 204129	NM_000030.3(AGXT):c.822G>C (p.Glu274Asp)	AGXT (E274D)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GConflicting classifications of pathogenicity
Select item 1726776	NM_000030.3(AGXT):c.934A>T (p.Lys312Ter)	AGXT (K190* +1 more)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GLikely pathogenic

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Items: 20