AGXT2[gene] - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 149959	GRCh38/hg38 5p15.33-13.2(chr5:22149-35831538)x1	ADAMTS12, ADAMTS16 +697 more	Copy number loss	See cases	GPathogenic
Select item 149824	GRCh38/hg38 5p15.33-q13.3(chr5:22149-74412725)x3	ACTBL2, ADAMTS12 +1445 more	Copy number gain	See cases	GPathogenic
Select item 146130	GRCh38/hg38 5p15.33-11(chr5:49978-46114984)x3	ADAMTS12, ADAMTS16 +953 more	Copy number gain	See cases	GPathogenic
Select item 58068	GRCh38/hg38 5p15.33-13.2(chr5:54839-35680845)x3	LINC02116, LINC02120 +696 more	Copy number gain	See cases	GPathogenic
Select item 58067	GRCh38/hg38 5p15.33-12(chr5:54839-45649861)x3	ADAMTS12, ADAMTS16 +952 more	Copy number gain	See cases	GPathogenic
Select item 152724	GRCh38/hg38 5p15.32-13.2(chr5:4849498-36818719)x3	ADAMTS12, ADAMTS16 +530 more	Copy number gain	See cases	GPathogenic
Select item 2683745	GRCh38/hg38 5p13.3-12(chr5:29299893-45899898)x3	AGXT2, LOC121725200 +385 more	Copy number gain	See cases	GLikely pathogenic
Select item 59606	GRCh38/hg38 5p13.3-13.2(chr5:30149035-35213678)x1	ADAMTS12, AGXT2 +116 more	Copy number loss	See cases	GPathogenic
Select item 146364	GRCh38/hg38 5p13.3-13.2(chr5:30961310-36143306)x1	ADAMTS12, AGXT2 +128 more	Copy number loss	See cases	GLikely pathogenic
Select item 2394426	NM_031900.4(AGXT2):c.1504C>T (p.Arg502Cys)	AGXT2 (R427C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097555	NM_031900.4(AGXT2):c.1457C>T (p.Ser486Leu)	AGXT2 (S411L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2533948	NM_031900.4(AGXT2):c.1451C>T (p.Ala484Val)	AGXT2 (A409V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2608546	NM_031900.4(AGXT2):c.1411G>T (p.Val471Phe)	AGXT2 (V471F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097546	NM_031900.4(AGXT2):c.1355T>C (p.Leu452Pro)	AGXT2 (L452P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 734731	NM_031900.4(AGXT2):c.1339-8A>G	AGXT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2481362	NM_031900.4(AGXT2):c.1333G>A (p.Asp445Asn)	AGXT2 (D445N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391593	NM_031900.4(AGXT2):c.1291G>A (p.Val431Ile)	AGXT2 (V431I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454538	NM_031900.4(AGXT2):c.1283T>C (p.Val428Ala)	AGXT2 (V353A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210446	NM_031900.4(AGXT2):c.1271A>T (p.Glu424Val)	AGXT2 (E349V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2611599	NM_031900.4(AGXT2):c.1193T>C (p.Ile398Thr)	AGXT2 (I398T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 402346	NM_031900.4(AGXT2):c.1188+1G>A	AGXT2	Single nucleotide variant (intron variant +1 more)	not specified +1 more	GBenign/Likely benign
Select item 3097531	NM_031900.4(AGXT2):c.1106A>G (p.Lys369Arg)	AGXT2 (K369R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2511179	NM_031900.4(AGXT2):c.1079C>T (p.Ala360Val)	AGXT2 (A360V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3276787	NM_031900.4(AGXT2):c.1075G>A (p.Ala359Thr)	AGXT2 (A359T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410467	NM_031900.4(AGXT2):c.1073T>C (p.Met358Thr)	AGXT2 (M358T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475630	NM_031900.4(AGXT2):c.1044G>A (p.Met348Ile)	AGXT2 (M348I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2478958	NM_031900.4(AGXT2):c.1000T>C (p.Trp334Arg)	AGXT2 (W334R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208331	NM_031900.4(AGXT2):c.980G>T (p.Gly327Val)	AGXT2 (G327V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3097627	NM_031900.4(AGXT2):c.917C>G (p.Ala306Gly)	AGXT2 (A306G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560065	NM_031900.4(AGXT2):c.901G>A (p.Gly301Arg)	AGXT2 (G301R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525466	NM_031900.4(AGXT2):c.824C>T (p.Thr275Ile)	AGXT2 (T275I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3068142	NM_031900.4(AGXT2):c.814dup (p.Thr272fs)	AGXT2 (T272fs)	Duplication (frameshift variant)	Beta-aminoisobutyric acid, urinary excretion of	GUncertain significance
Select item 2536601	NM_031900.4(AGXT2):c.815C>G (p.Thr272Arg)	AGXT2 (T272R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209781	NM_031900.4(AGXT2):c.794A>G (p.Tyr265Cys)	AGXT2 (Y265C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 709029	NM_031900.4(AGXT2):c.725G>A (p.Arg242Gln)	AGXT2 (R242Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2222784	NM_031900.4(AGXT2):c.697C>T (p.Arg233Cys)	AGXT2 (R233C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457023	NM_031900.4(AGXT2):c.683G>A (p.Cys228Tyr)	AGXT2 (C228Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2375484	NM_031900.4(AGXT2):c.661A>G (p.Thr221Ala)	AGXT2 (T221A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276797	NM_031900.4(AGXT2):c.623C>T (p.Thr208Ile)	AGXT2 (T208I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 769649	NM_031900.4(AGXT2):c.609C>T (p.Tyr203=)	AGXT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2358151	NM_031900.4(AGXT2):c.565G>A (p.Asp189Asn)	AGXT2 (D189N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308038	NM_031900.4(AGXT2):c.548C>T (p.Ala183Val)	AGXT2 (A183V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3097575	NM_031900.4(AGXT2):c.478C>T (p.Pro160Ser)	AGXT2 (P160S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355595	NM_031900.4(AGXT2):c.475G>A (p.Glu159Lys)	AGXT2 (E159K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276807	NM_031900.4(AGXT2):c.457C>G (p.Leu153Val)	AGXT2 (L153V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271175	NM_031900.4(AGXT2):c.442G>C (p.Glu148Gln)	AGXT2 (E148Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 427577	NM_031900.4(AGXT2):c.418G>A (p.Val140Ile)	AGXT2 (V140I)	Single nucleotide variant (missense variant)	Beta-aminoisobutyric acid, urinary excretion of	GAffects
Select item 723368	NM_031900.4(AGXT2):c.398G>A (p.Arg133His)	AGXT2 (R133H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 789736	NM_031900.4(AGXT2):c.397C>T (p.Arg133Cys)	AGXT2 (R133C)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2539924	NM_031900.4(AGXT2):c.295G>A (p.Ala99Thr)	AGXT2 (A99T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 745802	NM_031900.4(AGXT2):c.288C>G (p.Leu96=)	AGXT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2298815	NM_031900.4(AGXT2):c.226C>T (p.Pro76Ser)	AGXT2 (P76S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276775	NM_031900.4(AGXT2):c.223T>C (p.Ser75Pro)	AGXT2 (S75P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2370506	NM_031900.4(AGXT2):c.220C>A (p.Leu74Ile)	AGXT2 (L74I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280896	NM_031900.4(AGXT2):c.137C>T (p.Pro46Leu)	AGXT2 (P46L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3276816	NM_031900.4(AGXT2):c.72G>A (p.Met24Ile)	AGXT2 (M24I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148941	GRCh37/hg19 5p13.3-13.2(chr5:33684931-35652823)x1	ADAMTS12, AGXT2 +11 more	Copy number loss	See cases	GUncertain significance
Select item 2685139	GRCh37/hg19 5p15.33-13.2(chr5:113577-35613146)x1	ADAMTS12, ADAMTS16 +89 more	Copy number loss	not provided	GPathogenic
Select item 2424399	NC_000005.9:g.(?_33944753)_(39364566_?)dup	AGXT2, AMACR +32 more	Duplication	not provided	GUncertain significance
Select item 1808669	GRCh37/hg19 5p13.3-11(chr5:29348753-46389339)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	not provided	GPathogenic
Select item 1527153	GRCh37/hg19 5p14.1-11(chr5:26382110-46389339)	ADAMTS12, AGXT2 +72 more	Copy number gain	not specified	GPathogenic
Select item 1433583	NC_000005.9:g.(?_33944753)_(35089722_?)dup	AGXT2, AMACR +8 more	Duplication	Alpha-methylacyl-CoA racemase deficiency	GUncertain significance
Select item 1180548	GRCh37/hg19 5p13.2-11(chr5:34984696-46405042)x3	AGXT2, ANXA2R +51 more	Copy number gain	not provided	GPathogenic
Select item 1012370	GRCh37/hg19 5p13.3-12(chr5:29081195-45294031)x3	ADAMTS12, AGXT2 +71 more	Copy number gain	See cases	GPathogenic
Select item 687304	GRCh37/hg19 5p13.2-11(chr5:34453883-46389339)x3	AGXT2, ANXA2R +56 more	Copy number gain	not provided	GPathogenic
Select item 635930	Single allele	C5orf24, C5orf34 +600 more	Deletion	Neurodevelopmental disorder	GUncertain significance
Select item 563053	GRCh37/hg19 5p14.1-12(chr5:27227243-45685844)x3	C1QTNF3, C5orf22 +71 more	Copy number gain	not provided	GPathogenic
Select item 563027	GRCh37/hg19 5p15.33-13.2(chr5:113576-35739404)x3	ADAMTS12, ADAMTS16 +90 more	Copy number gain	not provided	GPathogenic
Select item 442809	GRCh37/hg19 5p14.2-11(chr5:24281195-46389339)x3	ADAMTS12, AGXT2 +73 more	Copy number gain	See cases	GLikely pathogenic
Select item 442431	GRCh37/hg19 5p15.1-q35.2(chr5:17628741-176575720)x1	DHFR, DHX29 +738 more	Copy number loss	See cases	GPathogenic
Select item 441920	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 441919	GRCh37/hg19 5p15.33-q35.3(chr5:113577-180719789)x3	ABLIM3, ACOT12 +870 more	Copy number gain	See cases	GPathogenic
Select item 394547	GRCh37/hg19 5p13.2(chr5:34945903-35060803)x3	AGXT2, DNAJC21 +1 more	Copy number gain	See cases	GUncertain significance
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic

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Items: 74