AGXT[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	LOC129935343, LOC129935344 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 146683	GRCh38/hg38 2q34-37.3(chr2:210579676-242126245)x3	LOC129935841, LOC129935842 +1148 more	Copy number gain	See cases	GPathogenic
Select item 155149	GRCh38/hg38 2q35-37.3(chr2:218101759-242126245)x3	LOC129935871, LOC129935872 +986 more	Copy number gain	See cases	GPathogenic
Select item 59173	GRCh38/hg38 2q36.3-37.3(chr2:227803148-242086301)x3	ACKR3, AGAP1 +630 more	Copy number gain	See cases	GPathogenic
Select item 144756	GRCh38/hg38 2q36.3-37.3(chr2:228723579-241404867)x3	LOC129935973, LOC129935974 +576 more	Copy number gain	See cases	GPathogenic
Select item 161051	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	ACKR3, AGAP1 +455 more	Copy number loss	See cases	GPathogenic
Select item 34724	GRCh38/hg38 2q37.1-37.3(chr2:231770279-242126245)x1	LOC129935973, LOC129935974 +455 more	Copy number loss	See cases	GPathogenic
Select item 58851	GRCh38/hg38 2q37.1-37.3(chr2:233420162-242086301)x1	LOC129935990, LOC129935991 +361 more	Copy number loss	See cases	GPathogenic
Select item 58852	GRCh38/hg38 2q37.1-37.3(chr2:233453611-242099155)x1	ACKR3, AGAP1 +359 more	Copy number loss	See cases	GPathogenic
Select item 154186	GRCh38/hg38 2q37.1-37.3(chr2:234159653-241841232)x1	LOC132090688, LOC132090689 +325 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 57457	GRCh38/hg38 2q37.1-37.3(chr2:234345842-242126245)x1	HDAC4, HDAC4-AS1 +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 147967	GRCh38/hg38 2q37.2-37.3(chr2:234835780-242065208)x1	ACKR3, AGAP1 +318 more	Copy number loss	See cases	GPathogenic
Select item 147844	GRCh38/hg38 2q37.2-37.3(chr2:235028429-242066108)x1	ACKR3, AGAP1 +314 more	Copy number loss	See cases	GPathogenic
Select item 59176	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242126245)x3	ACKR3, AGAP1 +311 more	Copy number gain	See cases	GPathogenic
Select item 58882	GRCh38/hg38 2q37.2-37.3(chr2:235268768-242065208)x1	ACKR3, AGAP1 +309 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 147465	GRCh38/hg38 2q37.2-37.3(chr2:235603604-241771051)x1	ACKR3, AGAP1 +288 more	Copy number loss	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 153183	GRCh38/hg38 2q37.2-37.3(chr2:235846916-241841232)x1	ACKR3, AGAP1 +288 more	Copy number loss	See cases	GPathogenic
Select item 151026	GRCh38/hg38 2q37.3(chr2:236413722-242126251)x1	LOC122889015, LOC122889016 +287 more	Copy number loss	See cases	GPathogenic
Select item 57420	GRCh38/hg38 2q37.3(chr2:236555233-242126245)x1	ACKR3, AGXT +276 more	Copy number loss	See cases	GPathogenic
Select item 1684635	Single allele	GPC1-AS1, GPR35 +274 more	Deletion	Chromosome 2q37 deletion syndrome	GPathogenic
Select item 150710	GRCh38/hg38 2q37.3(chr2:236775762-242126251)x1	AGXT, ANKMY1 +274 more	Copy number loss	See cases	GPathogenic
Select item 146261	GRCh38/hg38 2q37.3(chr2:236966763-242065208)x1	AGXT, ANKMY1 +271 more	Copy number loss	See cases	GPathogenic
Select item 146602	GRCh38/hg38 2q37.3(chr2:237034476-242065208)x1	AGXT, ANKMY1 +270 more	Copy number loss	See cases	GPathogenic
Select item 147368	GRCh38/hg38 2q37.3(chr2:237232204-242065208)x1	AGXT, ANKMY1 +264 more	Copy number loss	See cases	GPathogenic
Select item 58885	GRCh38/hg38 2q37.3(chr2:237526184-241996090)x1	LOC129935970, LOC129935971 +251 more	Copy number loss	See cases	GPathogenic
Select item 57432	GRCh38/hg38 2q37.3(chr2:237643996-242126245)x1	COPS9, CROCC2 +250 more	Copy number loss	See cases	GPathogenic
Select item 151032	GRCh38/hg38 2q37.3(chr2:237902870-242126251)x1	AGXT, ANKMY1 +235 more	Copy number loss	See cases	GPathogenic
Select item 144177	GRCh38/hg38 2q37.3(chr2:238756369-241771051)x3	AGXT, ANKMY1 +171 more	Copy number gain	See cases	GPathogenic
Select item 149058	GRCh38/hg38 2q37.3(chr2:238833519-242126245)x1	AGXT, ANKMY1 +185 more	Copy number loss	See cases	GPathogenic
Select item 204217	NC_000002.12:g.(?_239048168)_(240879119_?)del	PRR21, RNPEPL1 +84 more	Deletion	Primary hyperoxaluria, type I	GPathogenic
Select item 153228	GRCh38/hg38 2q37.3(chr2:239507342-241841232)x1	LOC129936021, LOC129936022 +144 more	Copy number loss	See cases	GPathogenic
Select item 155356	GRCh38/hg38 2q37.3(chr2:239642965-241841232)x1	LOC110121227, LOC110599582 +143 more	Copy number loss	See cases	GLikely pathogenic
Select item 147508	GRCh38/hg38 2q37.3(chr2:240067206-242126245)x1	AGXT, ANKMY1 +145 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 146578	GRCh38/hg38 2q37.3(chr2:240171137-242065208)x1	AGXT, ANKMY1 +138 more	Copy number loss	See cases	GPathogenic
Select item 149568	GRCh38/hg38 2q37.3(chr2:240187901-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GLikely pathogenic
Select item 151964	GRCh38/hg38 2q37.3(chr2:240228628-242126245)x1	AGXT, ANKMY1 +140 more	Copy number loss	See cases	GUncertain significance
Select item 58911	GRCh38/hg38 2q37.3(chr2:240444819-242086301)x1	AGXT, ANKMY1 +131 more	Copy number loss	See cases	GPathogenic
Select item 146232	GRCh38/hg38 2q37.3(chr2:240507151-242065208)x1	AGXT, ANKMY1 +127 more	Copy number loss	See cases	GLikely pathogenic
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 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)	not provided +1 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)	Primary hyperoxaluria +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)	not provided +3 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 2681193	NM_000030.3(AGXT):c.[32C>T;836T>C]	AGXT (P11L +1 more)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I	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)	Primary hyperoxaluria, type I +2 more	GConflicting classifications of pathogenicity
Select item 204018	NM_000030.3(AGXT):c.32C>A (p.Pro11His)	AGXT (P11H)	Single nucleotide variant (missense variant)	Primary hyperoxaluria, type I +2 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)	Inborn genetic diseases +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)	not provided +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

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