"Fulgent Genetics, Fulgent Genetics"[submitter] AND "AGXT"[gene] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 204172	NM_000030.3(AGXT):c.2_3delinsAT (p.Met1Asn)	AGXT (M1N)	Indel (missense variant +1 more)	not provided +1 more	GPathogenic
Select item 204065	NM_000030.3(AGXT):c.2T>C (p.Met1Thr)	AGXT (M1T)	Single nucleotide variant (missense variant +1 more)	Primary hyperoxaluria, type I +2 more	GPathogenic/Likely pathogenic
Select item 140583	NM_000030.3(AGXT):c.33dup (p.Lys12fs)	AGXT (K12fs)	Duplication (frameshift variant)	not provided +4 more	GPathogenic
Select item 1141292	NM_000030.3(AGXT):c.27C>G (p.Thr9=)	AGXT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 896591	NM_000030.3(AGXT):c.31C>G (p.Pro11Ala)	AGXT (P11A)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 204069	NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)	AGXT (P11R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +2 more	GPathogenic/Likely pathogenic
Select item 5641	NM_000030.3(AGXT):c.32C>T (p.Pro11Leu)	AGXT (P11L)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 more	GBenign/Likely benign
Select item 957713	NM_000030.3(AGXT):c.70C>A (p.Leu24Ile)	AGXT (L24I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 554506	NM_000030.3(AGXT):c.82C>T (p.Pro28Ser)	AGXT (P28S)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 188957	NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)	AGXT (R36C)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 204072	NM_000030.3(AGXT):c.107G>A (p.Arg36His)	AGXT (R36H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204176	NM_000030.3(AGXT):c.126del (p.Leu43fs)	AGXT (L43fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 5644	NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)	AGXT (G41R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +2 more	GPathogenic
Select item 204075	NM_000030.3(AGXT):c.130C>T (p.Gln44Ter)	AGXT (Q44*)	Single nucleotide variant (nonsense)	Primary hyperoxaluria, type I	GPathogenic/Likely pathogenic
Select item 204083	NM_000030.3(AGXT):c.242C>T (p.Ser81Leu)	AGXT (S81L)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +3 more	GPathogenic/Likely pathogenic
Select item 962187	NM_000030.3(AGXT):c.286C>G (p.Pro96Ala)	AGXT (P96A)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 188866	NM_000030.3(AGXT):c.302T>C (p.Leu101Pro)	AGXT (L101P)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204182	NM_000030.3(AGXT):c.327del (p.Gln110fs)	AGXT (Q110fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 204092	NM_000030.3(AGXT):c.332G>A (p.Arg111Gln)	AGXT (R111Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204095	NM_000030.3(AGXT):c.352C>T (p.Arg118Cys)	AGXT (R118C)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 204096	NM_000030.3(AGXT):c.353G>A (p.Arg118His)	AGXT (R118H)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 961691	NM_000030.3(AGXT):c.358G>A (p.Gly120Arg)	AGXT (G120R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GConflicting classifications of pathogenicity
Select item 797780	NM_000030.3(AGXT):c.375G>C (p.Pro125=)	AGXT	Single nucleotide variant (synonymous variant)	Primary hyperoxaluria, type I +1 more	GLikely benign
Select item 1655697	NM_000030.3(AGXT):c.423+12G>A	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I +1 more	GLikely benign
Select item 711545	NM_000030.3(AGXT):c.424-4T>C	AGXT	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 204185	NM_000030.3(AGXT):c.447_454del (p.Leu151fs)	AGXT (L151fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I +2 more	GPathogenic
Select item 5645	NM_000030.3(AGXT):c.454T>A (p.Phe152Ile)	AGXT (F152I)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 1604628	NM_000030.3(AGXT):c.483C>G (p.Gly161=)	AGXT	Single nucleotide variant (synonymous variant)	Primary hyperoxaluria, type I +1 more	GLikely benign
Select item 40166	NM_000030.3(AGXT):c.508G>A (p.Gly170Arg)	AGXT (G170R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 more	GPathogenic/Likely pathogenic
Select item 204111	NM_000030.3(AGXT):c.547G>A (p.Asp183Asn)	AGXT (D183N)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 990641	NM_000030.3(AGXT):c.551C>T (p.Ser184Leu)	AGXT (S184L)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 92311	NM_000030.3(AGXT):c.557C>T (p.Ala186Val)	AGXT (A186V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 189047	NM_000030.3(AGXT):c.568G>A (p.Gly190Arg)	AGXT (G190R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 204191	NM_000030.3(AGXT):c.577del (p.Leu193fs)	AGXT (L193fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 719693	NM_000030.3(AGXT):c.573C>T (p.Thr191=)	AGXT	Single nucleotide variant (synonymous variant)	Primary hyperoxaluria, type I +1 more	GBenign/Likely benign
Select item 204113	NM_000030.3(AGXT):c.584T>G (p.Met195Arg)	AGXT (M195R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 92312	NM_000030.3(AGXT):c.590G>A (p.Arg197Gln)	AGXT (R197Q)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 more	GBenign/Likely benign
Select item 1093090	NM_000030.3(AGXT):c.596-10C>T	AGXT	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1083154	NM_000030.3(AGXT):c.596-7T>C	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I +1 more	GLikely benign
Select item 335297	NM_000030.3(AGXT):c.601G>A (p.Asp201Asn)	AGXT (D201N)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GConflicting classifications of pathogenicity
Select item 204115	NM_000030.3(AGXT):c.603C>A (p.Asp201Glu)	AGXT (D201E)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 5640	NM_000030.3(AGXT):c.613T>C (p.Ser205Pro)	AGXT (S205P)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 1060317	NM_000030.3(AGXT):c.637G>A (p.Ala213Thr)	AGXT (A213T)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GUncertain significance
Select item 204121	NM_000030.3(AGXT):c.646G>A (p.Gly216Arg)	AGXT (G216R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 198034	NM_000030.3(AGXT):c.654G>A (p.Ser218=)	AGXT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1156272	NM_000030.3(AGXT):c.660C>T (p.Ile220=)	AGXT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 204194	NM_000030.3(AGXT):c.662_664del (p.Ser221del)	AGXT (S221del)	Deletion (inframe_deletion)	Primary hyperoxaluria, type I +2 more	GPathogenic/Likely pathogenic
Select item 370958	NM_000030.3(AGXT):c.673_676del (p.Lys225fs)	AGXT (K225fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 5647	NM_000030.3(AGXT):c.697C>T (p.Arg233Cys)	AGXT (R233C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 5648	NM_000030.3(AGXT):c.698G>A (p.Arg233His)	AGXT (R233H)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 5646	NM_000030.3(AGXT):c.731T>C (p.Ile244Thr)	AGXT (I244T)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic
Select item 254727	NM_000030.3(AGXT):c.732C>A (p.Ile244=)	AGXT	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 204048	NM_000030.3(AGXT):c.742G>T (p.Ala248Ser)	AGXT (A248S)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GConflicting classifications of pathogenicity
Select item 383368	NM_000030.3(AGXT):c.743C>T (p.Ala248Val)	AGXT (A248V)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 550408	NM_000030.3(AGXT):c.777-17C>A	AGXT	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 188774	NM_000030.3(AGXT):c.777-1G>C	AGXT	Single nucleotide variant (splice acceptor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 204129	NM_000030.3(AGXT):c.822G>C (p.Glu274Asp)	AGXT (E274D)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 198686	NM_000030.3(AGXT):c.836T>C (p.Ile279Thr)	AGXT (I279T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 990642	NM_000030.3(AGXT):c.846+5A>G	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 204169	NM_000030.3(AGXT):c.847-3C>G	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
Select item 204055	NM_000030.3(AGXT):c.865C>T (p.Arg289Cys)	AGXT (R289C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 763755	NM_000030.3(AGXT):c.888G>A (p.Ala296=)	AGXT	Single nucleotide variant (synonymous variant)	Primary hyperoxaluria, type I +1 more	GLikely benign
Select item 1080258	NM_000030.3(AGXT):c.981C>T (p.Pro327=)	AGXT	Single nucleotide variant (synonymous variant)	Primary hyperoxaluria, type I +1 more	GLikely benign
Select item 1354545	NM_000030.3(AGXT):c.1002C>T (p.Asp334=)	AGXT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 39486	NM_000030.3(AGXT):c.1020A>G (p.Ile340Met)	AGXT (I340M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 711546	NM_000030.3(AGXT):c.1023C>A (p.Asp341Glu)	AGXT (D341E)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 188986	NM_000030.3(AGXT):c.1049G>A (p.Gly350Asp)	AGXT (G350D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1448578	NM_000030.3(AGXT):c.1065G>A (p.Thr355=)	AGXT	Single nucleotide variant (synonymous variant)	Primary hyperoxaluria, type I +1 more	GConflicting classifications of pathogenicity
Select item 204146	NM_000030.3(AGXT):c.1076T>C (p.Leu359Pro)	AGXT (L359P)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 204147	NM_000030.3(AGXT):c.1079G>A (p.Arg360Gln)	AGXT (R360Q)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 204061	NM_000030.3(AGXT):c.1174C>T (p.Leu392=)	AGXT	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign

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Items: 71