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

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Items: 90

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	LOC129935726, LOC129935727 +1665 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	LOC129935966, LOC129935967 +630 more	Copy number gain	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	ACKR3, AGAP1 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	RAB17-DT, RAMP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 58879	GRCh38/hg38 2q37.1-37.3(chr2:234172536-242086301)x1	LOC126806577, LOC126806578 +334 more	Copy number loss	See cases	GPathogenic
Select item 58880	GRCh38/hg38 2q37.1-37.3(chr2:234668159-242126245)x1	PRLH, PRR21 +325 more	Copy number loss	See cases	GPathogenic
Select item 59177	GRCh38/hg38 2q37.2-37.3(chr2:235563664-242086301)x3	ACKR3, AGAP1 +303 more	Copy number gain	See cases	GPathogenic
Select item 58883	GRCh38/hg38 2q37.2-37.3(chr2:235741079-242032456)x1	ACKR3, AGAP1 +298 more	Copy number loss	See cases	GPathogenic
Select item 58910	GRCh38/hg38 2q37.3(chr2:240067206-242086301)x1	FAM240C, FARP2 +143 more	Copy number loss	See cases	GPathogenic
Select item 58911	GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1	AGXT, ANKMY1 +131 more	Copy number loss	See cases	GPathogenic
Select item 152539	GRCh38/hg38 2q37.3(chr2:240671231-242092126)x1	LOC132088835, LOC132088836 +96 more	Copy number loss	See cases	GLikely pathogenic
Select item 59179	GRCh38/hg38 2q37.3(chr2:240712924-241408725)x3	LOC129936008, LOC129936009 +47 more	Copy number gain	See cases	GPathogenic
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 335291	NM_000030.2(AGXT):c.-46G>A	AGXT	Single nucleotide variant	Primary hyperoxaluria +1 more	GBenign/Likely 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 140583	NM_000030.3(AGXT):c.33dup (p.Lys12fs)	AGXT (K12fs)	Duplication (frameshift variant)	not provided +4 more	GPathogenic
Select item 204016	NM_000030.3(AGXT):c.26C>A (p.Thr9Asn)	AGXT (T9N)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
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 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 204020	NM_000030.3(AGXT):c.65A>G (p.Asn22Ser)	AGXT (N22S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
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 5644	NM_000030.3(AGXT):c.121G>A (p.Gly41Arg)	AGXT (G41R)	Single nucleotide variant (missense variant)	Primary hyperoxaluria +2 more	GPathogenic
Select item 204021	NM_000030.3(AGXT):c.165+16A>G	AGXT	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 204026	NM_000030.3(AGXT):c.165+40A>C	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I +1 more	GBenign/Likely benign
Select item 1288193	NM_000030.3(AGXT):c.165+58_165+59insACGGAAGAGGGGAGGGGTCACTGCTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATC	AGXT	Microsatellite (intron variant)	not provided	GBenign
Select item 1276006	NM_000030.3(AGXT):c.166-57_166-56insTTCCTCACTCGGGGGGCCTGGGTCTCACCCCTGTACCCACCCACAGATCGTGGACGAGGGAAGGGGGTCACTGC	AGXT	Microsatellite (intron variant)	not provided +1 more	GBenign
Select item 204077	NM_000030.3(AGXT):c.167T>A (p.Ile56Asn)	AGXT (I56N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 204030	NM_000030.3(AGXT):c.264C>T (p.Ala88=)	AGXT	Single nucleotide variant (synonymous variant)	Primary hyperoxaluria, type I +2 more	GBenign
Select item 2574876	NM_000030.3(AGXT):c.289G>A (p.Gly97Arg)	AGXT (G97R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 204032	NM_000030.3(AGXT):c.358+13C>T	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I +2 more	GBenign
Select item 204033	NM_000030.3(AGXT):c.358+56_358+64del	AGXT	Microsatellite (intron variant)	not provided	GBenign
Select item 1184756	NM_000030.3(AGXT):c.358+163G>T	AGXT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1706985	NM_000030.3(AGXT):c.358+198G>C	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203324	NM_000030.3(AGXT):c.358+228C>G	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1273120	NM_000030.3(AGXT):c.359-163C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 204183	NM_000030.3(AGXT):c.359-1_382del	AGXT	Deletion (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 204035	NM_000030.3(AGXT):c.423+29C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 204037	NM_000030.3(AGXT):c.423+45T>G	AGXT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 204039	NM_000030.3(AGXT):c.424-16G>A	AGXT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 204103	NM_000030.3(AGXT):c.473C>T (p.Ser158Leu)	AGXT (S158L)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GPathogenic/Likely pathogenic
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 204041	NM_000030.3(AGXT):c.524+91C>T	AGXT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1235232	NM_000030.3(AGXT):c.525-216G>A	AGXT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1282526	NM_000030.3(AGXT):c.525-68T>G	AGXT	Single nucleotide variant (intron variant)	not provided	GBenign
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 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 1184757	NM_000030.3(AGXT):c.595+100G>A	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I +1 more	GBenign
Select item 1208470	NM_000030.3(AGXT):c.595+150C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1268250	NM_000030.3(AGXT):c.595+151G>A	AGXT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227606	NM_000030.3(AGXT):c.595+231G>C	AGXT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264195	NM_000030.3(AGXT):c.596-208C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GBenign
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 451443	NM_000030.3(AGXT):c.676G>A (p.Ala226Thr)	AGXT (A226T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1276681	NM_000030.3(AGXT):c.680+204C>G	AGXT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 204046	NM_000030.3(AGXT):c.681-94G>A	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 204047	NM_000030.3(AGXT):c.705G>A (p.Thr235=)	AGXT	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 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 1284126	NM_000030.3(AGXT):c.776+69C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1193825	NM_000030.3(AGXT):c.777-302C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1243896	NM_000030.3(AGXT):c.777-77G>A	AGXT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1209374	NM_000030.3(AGXT):c.777-57C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 204050	NM_000030.3(AGXT):c.777-45C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 204049	NM_000030.3(AGXT):c.777-44A>G	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I +1 more	GBenign
Select item 204052	NM_000030.3(AGXT):c.839C>T (p.Ala280Val)	AGXT (A280V)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 204054	NM_000030.3(AGXT):c.846+52G>A	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I +1 more	GBenign
Select item 1184758	NM_000030.3(AGXT):c.846+170C>T	AGXT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1184759	NM_000030.3(AGXT):c.846+199G>A	AGXT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1184760	NM_000030.3(AGXT):c.847-83G>T	AGXT	Single nucleotide variant (intron variant)	Primary hyperoxaluria, type I +1 more	GBenign
Select item 204056	NM_000030.3(AGXT):c.883G>A (p.Ala295Thr)	AGXT (A295T)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 204161	NM_000030.3(AGXT):c.942+1G>T	AGXT	Single nucleotide variant (splice donor variant)	not provided	GPathogenic/Likely pathogenic
Select item 1184761	NM_000030.3(AGXT):c.942+127C>T	AGXT	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1198702	NM_000030.3(AGXT):c.942+173C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201216	NM_000030.3(AGXT):c.942+174G>A	AGXT	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1270030	NM_000030.3(AGXT):c.943-167G>T	AGXT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 204057	NM_000030.3(AGXT):c.943-117C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 631851	NM_000030.3(AGXT):c.949C>T (p.Arg317Trp)	AGXT (R317W)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +1 more	GConflicting classifications of pathogenicity
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 1243049	NM_000030.3(AGXT):c.1071+163A>G	AGXT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1250826	NM_000030.3(AGXT):c.1072-219C>G	AGXT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273566	NM_000030.3(AGXT):c.1072-204C>T	AGXT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257335	NM_000030.3(AGXT):c.1072-114G>A	AGXT	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 204060	NM_000030.3(AGXT):c.1142G>A (p.Arg381Lys)	AGXT (R381K)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 204063	NM_000030.3(AGXT):c.*41C>A	AGXT	Single nucleotide variant (3 prime UTR variant)	Primary hyperoxaluria, type I +1 more	GBenign
Select item 204064	NM_000030.3(AGXT):c.*289A>C	AGXT	Single nucleotide variant (3 prime UTR variant)	Primary hyperoxaluria, type I +1 more	GBenign

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Items: 90