AGXT[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1193707	NC_000002.12:g.240868545G>A	AGXT	Single nucleotide variant	not provided	GLikely benign
Select item 1191369	NC_000002.12:g.240868633G>C	AGXT	Single nucleotide variant	not provided	GLikely benign
Select item 204215	NG_008005.1:g.(?_5001)_(11460_12190)del	AGXT	Deletion	Primary hyperoxaluria, type I	GPathogenic
Select item 204214	NG_008005.1:g.(?_5001)_(9305_10233)del	AGXT	Deletion	Primary hyperoxaluria, type I	GPathogenic
Select item 335291	NM_000030.2(AGXT):c.-46G>A	AGXT	Single nucleotide variant	Primary hyperoxaluria +1 more	GBenign/Likely benign
Select item 895171	NM_000030.3(AGXT):c.-24C>G	AGXT	Single nucleotide variant (5 prime UTR variant)	Primary hyperoxaluria, type I	GLikely benign
Select item 335292	NM_000030.3(AGXT):c.-23G>A	AGXT	Single nucleotide variant (5 prime UTR variant)	Primary hyperoxaluria, type I +1 more	GBenign/Likely benign
Select item 335293	NM_000030.3(AGXT):c.-14G>A	AGXT	Single nucleotide variant (5 prime UTR variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 3048343	NM_000030.3(AGXT):c.-6C>T	AGXT	Single nucleotide variant (5 prime UTR variant)	AGXT-related disorder	GLikely benign
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 204066	NM_000030.3(AGXT):c.3G>T (p.Met1Ile)	AGXT (M1I)	Single nucleotide variant (missense variant +1 more)	Primary hyperoxaluria, type I	GPathogenic
Select item 2035904	NM_000030.3(AGXT):c.9T>A (p.Ser3=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1109563	NM_000030.3(AGXT):c.15G>A (p.Lys5=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2095232	NM_000030.3(AGXT):c.21G>C (p.Leu7=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1091620	NM_000030.3(AGXT):c.21G>T (p.Leu7=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 204067	NM_000030.3(AGXT):c.22G>C (p.Val8Leu)	AGXT (V8L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2681152	NM_000030.3(AGXT):c.23_24delinsAT (p.Val8Asp)	AGXT (V8D)	Indel (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 140583	NM_000030.3(AGXT):c.33dup (p.Lys12fs)	AGXT (K12fs)	Duplication (frameshift variant)	not provided +4 more	GPathogenic
Select item 1359036	NM_000030.3(AGXT):c.26_27insA (p.Lys12fs)	AGXT (K12fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 204173	NM_000030.3(AGXT):c.32_33del (p.Pro11fs)	AGXT (P11fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 204016	NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)	AGXT (T9N)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 more	GBenign/Likely benign
Select item 188775	NM_000030.3(AGXT):c.33del (p.Lys12fs)	AGXT (K12fs)	Deletion (frameshift variant)	Primary hyperoxaluria +2 more	GPathogenic/Likely pathogenic
Select item 1587675	NM_000030.3(AGXT):c.27C>T (p.Thr9=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 204017	NM_000030.3(AGXT):c.27C>A (p.Thr9=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681160	NM_000030.3(AGXT):c.28_29delinsA (p.Pro10fs)	AGXT (P10fs)	Indel (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 383367	NM_000030.3(AGXT):c.28C>G (p.Pro10Ala)	AGXT (P10A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 204068	NM_000030.3(AGXT):c.28C>T (p.Pro10Ser)	AGXT (P10S)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2069242	NM_000030.3(AGXT):c.31C>T (p.Pro11Ser)	AGXT (P11S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1678650	NM_000030.3(AGXT):c.31_32insT (p.Pro11fs)	AGXT (P11fs)	Insertion (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic
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 3018764	NM_000030.3(AGXT):c.32_33delinsTT (p.Pro11Leu)	AGXT (P11L)	Indel (missense variant)	not provided	GLikely benign
Select item 2704789	NM_000030.3(AGXT):c.32_33insT (p.Lys12fs)	AGXT (K12fs)	Insertion (frameshift variant)	not provided	GPathogenic
Select item 1131706	NM_000030.3(AGXT):c.32_33delinsTG (p.Pro11Leu)	AGXT (P11L)	Indel (missense variant)	not provided	GLikely benign
Select item 204069	NM_000030.3(AGXT):c.32C>G (p.Pro11Arg)	AGXT (P11R)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 204018	NM_000030.3(AGXT):c.32C>A (p.Pro11His)	AGXT (P11H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 5641	NM_000030.3(AGXT):c.32C>T (p.Pro11Leu)	AGXT (P11L)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2664113	NM_000030.3(AGXT):c.34_35dup (p.Ala13fs)	AGXT (A13fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 1618199	NM_000030.3(AGXT):c.33C>G (p.Pro11=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1095848	NM_000030.3(AGXT):c.33C>A (p.Pro11=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 204019	NM_000030.3(AGXT):c.35A>G (p.Lys12Arg)	AGXT (K12R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2681174	NM_000030.3(AGXT):c.40dup (p.Leu14fs)	AGXT (L14fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2557073	NM_000030.3(AGXT):c.37G>C (p.Ala13Pro)	AGXT (A13P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1147023	NM_000030.3(AGXT):c.39C>T (p.Ala13=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 896592	NM_000030.3(AGXT):c.40C>T (p.Leu14=)	AGXT	Single nucleotide variant (synonymous variant)	Primary hyperoxaluria, type I +1 more	GConflicting classifications of pathogenicity
Select item 1106799	NM_000030.3(AGXT):c.42G>A (p.Leu14=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1102171	NM_000030.3(AGXT):c.48G>A (p.Lys16=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681183	NM_000030.3(AGXT):c.52C>T (p.Leu18Phe)	AGXT (L18F)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 3016202	NM_000030.3(AGXT):c.54C>T (p.Leu18=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2085105	NM_000030.3(AGXT):c.57C>G (p.Ser19=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2982980	NM_000030.3(AGXT):c.60C>A (p.Ile20=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974803	NM_000030.3(AGXT):c.63C>T (p.Pro21=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 204020	NM_000030.3(AGXT):c.65A>G (p.Asn22Ser)	AGXT (N22S)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 more	GBenign
Select item 654767	NM_000030.3(AGXT):c.67C>T (p.Gln23Ter)	AGXT (Q23*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
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 2134972	NM_000030.3(AGXT):c.72C>T (p.Leu24=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 749894	NM_000030.3(AGXT):c.72C>G (p.Leu24=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 204070	NM_000030.3(AGXT):c.74T>G (p.Leu25Arg)	AGXT (L25R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2848698	NM_000030.3(AGXT):c.75G>T (p.Leu25=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 204071	NM_000030.3(AGXT):c.77T>C (p.Leu26Pro)	AGXT (L26P)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2671856	NM_000030.3(AGXT):c.79G>T (p.Gly27Trp)	AGXT (G27W)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2681190	NM_000030.3(AGXT):c.80G>A (p.Gly27Glu)	AGXT (G27E)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GUncertain significance
Select item 2771220	NM_000030.3(AGXT):c.81G>C (p.Gly27=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 204174	NM_000030.3(AGXT):c.83del (p.Pro28fs)	AGXT (P28fs)	Deletion (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2502380	NM_000030.3(AGXT):c.87_134delinsGTCTCACCCATGTTCCCACCCACA (p.Pro30_Met45delinsSerHisProCysSerHisProGln)	AGXT	Indel (inframe_indel)	Hyperoxaluria	GUncertain significance
Select item 2847462	NM_000030.3(AGXT):c.90T>C (p.Pro30=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1974244	NM_000030.3(AGXT):c.99G>C (p.Leu33=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1951431	NM_000030.3(AGXT):c.100C>T (p.Pro34Ser)	AGXT (P34S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3276756	NM_000030.3(AGXT):c.104C>A (p.Pro35His)	AGXT (P35H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3276736	NM_000030.3(AGXT):c.104C>G (p.Pro35Arg)	AGXT (P35R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2699244	NM_000030.3(AGXT):c.105T>A (p.Pro35=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1919327	NM_000030.3(AGXT):c.106C>G (p.Arg36Gly)	AGXT (R36G)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 188957	NM_000030.3(AGXT):c.106C>T (p.Arg36Cys)	AGXT (R36C)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2088931	NM_000030.3(AGXT):c.107G>C (p.Arg36Pro)	AGXT (R36P)	Single nucleotide variant (missense variant)	not provided	GLikely 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 204175	NM_000030.3(AGXT):c.116_117dup (p.Ala40fs)	AGXT (A40fs)	Duplication (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1124220	NM_000030.3(AGXT):c.120C>T (p.Ala40=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 554314	NM_000030.3(AGXT):c.126dup (p.Leu43fs)	AGXT (L43fs)	Duplication (frameshift variant)	Primary hyperoxaluria, type I	GPathogenic/Likely pathogenic
Select item 2203295	NM_000030.3(AGXT):c.121G>C (p.Gly41Arg)	AGXT (G41R)	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 204073	NM_000030.3(AGXT):c.122G>A (p.Gly41Glu)	AGXT (G41E)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 188985	NM_000030.3(AGXT):c.122G>T (p.Gly41Val)	AGXT (G41V)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1532835	NM_000030.3(AGXT):c.123G>A (p.Gly41=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 204074	NM_000030.3(AGXT):c.125G>A (p.Gly42Glu)	AGXT (G42E)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GPathogenic
Select item 2755319	NM_000030.3(AGXT):c.126G>C (p.Gly42=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1647033	NM_000030.3(AGXT):c.126G>A (p.Gly42=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3344672	NM_000030.3(AGXT):c.128T>C (p.Leu43Pro)	AGXT (L43P)	Single nucleotide variant (missense variant)	AGXT-related disorder	GUncertain significance
Select item 1614489	NM_000030.3(AGXT):c.128T>A (p.Leu43Gln)	AGXT (L43Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 1080865	NM_000030.3(AGXT):c.138C>T (p.Ile46=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2681194	NM_000030.3(AGXT):c.139G>C (p.Gly47Arg)	AGXT (G47R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 1497047	NM_000030.3(AGXT):c.139G>T (p.Gly47Trp)	AGXT (G47W)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 204076	NM_000030.3(AGXT):c.139G>A (p.Gly47Arg)	AGXT (G47R)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2681153	NM_000030.3(AGXT):c.140G>A (p.Gly47Glu)	AGXT (G47E)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	GLikely pathogenic
Select item 2031048	NM_000030.3(AGXT):c.144C>T (p.Ser48=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 550334	NM_000030.3(AGXT):c.145A>C (p.Met49Leu)	AGXT (M49L)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1528302	NM_000030.3(AGXT):c.156T>C (p.Asp52=)	AGXT	Single nucleotide variant (synonymous variant)	not provided	GLikely benign

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