ClinVar for MedGen (Select 78688) - ClinVar - NCBI

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VariationLocation		Gene(s)	Protein change	Condition(s)	Clinical significance (Last reviewed)	Review status
Select item 24221901.	NC_000006.11:g.(?_131902339)_(131905048_?)dup GRCh37: Chr6:131902339-131905048	MED23, ARG1		Arginase deficiency	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 24221892.	NC_000006.11:g.(?_131900217)_(131902528_?)del GRCh37: Chr6:131900217-131902528	ARG1, MED23		Arginase deficiency	Pathogenic (Aug 19, 2022)	criteria provided, single submitter
Select item 24212813.	NM_000045.4(ARG1):c.314T>C (p.Ile105Thr) GRCh37: Chr6:131902367 GRCh38: Chr6:131581227	ARG1, MED23	I105T, I113T	Arginase deficiency	Uncertain significance (Jun 29, 2022)	criteria provided, single submitter
Select item 24180504.	NM_000045.4(ARG1):c.505A>G (p.Ile169Val) GRCh37: Chr6:131903800 GRCh38: Chr6:131582660	ARG1, MED23	I169V, I177V	Arginase deficiency	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 21983885.	NM_000045.4(ARG1):c.724C>T (p.Pro242Ser) GRCh37: Chr6:131904553 GRCh38: Chr6:131583413	ARG1, MED23	P157S, P250S, P242S	Arginase deficiency	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 21976206.	NM_000045.4(ARG1):c.231C>T (p.Ser77=) GRCh37: Chr6:131900351 GRCh38: Chr6:131579211	ARG1, MED23		Arginase deficiency	Likely benign (Nov 2, 2022)	criteria provided, single submitter
Select item 21933617.	NM_000045.4(ARG1):c.666-5A>G GRCh37: Chr6:131904490 GRCh38: Chr6:131583350	ARG1, MED23		Arginase deficiency	Likely benign (Oct 13, 2022)	criteria provided, single submitter
Select item 21914728.	NM_000045.4(ARG1):c.929G>T (p.Gly310Val) GRCh37: Chr6:131905008 GRCh38: Chr6:131583868	ARG1, MED23	G225V, G310V, G318V	Arginase deficiency	Uncertain significance (May 17, 2022)	criteria provided, single submitter
Select item 21900469.	NM_000045.4(ARG1):c.242C>T (p.Ala81Val) GRCh37: Chr6:131900362 GRCh38: Chr6:131579222	MED23, ARG1	A89V, A81V	Arginase deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 218681710.	NM_000045.4(ARG1):c.306-7C>T GRCh37: Chr6:131902352 GRCh38: Chr6:131581212	ARG1, MED23		Arginase deficiency	Likely benign (Sep 21, 2022)	criteria provided, single submitter
Select item 218528711.	NM_000045.4(ARG1):c.646C>T (p.Leu216Phe) GRCh37: Chr6:131904285 GRCh38: Chr6:131583145	ARG1, MED23	L216F, L131F, L224F	Arginase deficiency	Uncertain significance (May 2, 2022)	criteria provided, single submitter
Select item 217462512.	NM_000045.4(ARG1):c.51G>C (p.Lys17Asn) GRCh37: Chr6:131894473 GRCh38: Chr6:131573333	ARG1	K17N	Arginase deficiency	Uncertain significance (May 15, 2022)	criteria provided, single submitter
Select item 216788013.	NM_000045.4(ARG1):c.787G>A (p.Glu263Lys) GRCh37: Chr6:131904616 GRCh38: Chr6:131583476	ARG1, MED23	E178K, E263K, E271K	Arginase deficiency	Uncertain significance (Feb 22, 2022)	criteria provided, single submitter
Select item 216545114.	NM_000045.4(ARG1):c.666-18_666-14del GRCh37: Chr6:131904474-131904478 GRCh38: Chr6:131583334-131583338	ARG1, MED23		Arginase deficiency	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 216234615.	NM_000045.4(ARG1):c.232G>A (p.Glu78Lys) GRCh37: Chr6:131900352 GRCh38: Chr6:131579212	ARG1, MED23	E86K, E78K	Arginase deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 216022316.	NM_000045.4(ARG1):c.879G>C (p.Val293=) GRCh37: Chr6:131904958 GRCh38: Chr6:131583818	ARG1, MED23		Arginase deficiency	Likely benign (Nov 2, 2022)	criteria provided, single submitter
Select item 215917017.	NM_000045.4(ARG1):c.84T>C (p.Pro28=) GRCh37: Chr6:131897829 GRCh38: Chr6:131576689	ARG1, MED23		Arginase deficiency	Likely benign (Apr 28, 2022)	criteria provided, single submitter
Select item 215433618.	NM_000045.4(ARG1):c.92T>G (p.Leu31Trp) GRCh37: Chr6:131897837 GRCh38: Chr6:131576697	ARG1, MED23	L31W	Arginase deficiency	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 215308019.	NM_000045.4(ARG1):c.159G>T (p.Leu53=) GRCh37: Chr6:131900279 GRCh38: Chr6:131579139	ARG1, MED23		Arginase deficiency	Likely benign (Apr 12, 2022)	criteria provided, single submitter
Select item 215140620.	NM_000045.4(ARG1):c.770G>T (p.Gly257Val) GRCh37: Chr6:131904599 GRCh38: Chr6:131583459	ARG1, MED23	G265V, G172V, G257V	Arginase deficiency	Uncertain significance (Aug 9, 2022)	criteria provided, single submitter
Select item 215123221.	NM_000045.4(ARG1):c.67G>T (p.Gly23Trp) GRCh37: Chr6:131897812 GRCh38: Chr6:131576672	ARG1, MED23	G23W	Arginase deficiency	Uncertain significance (Mar 11, 2022)	criteria provided, single submitter
Select item 214865022.	NM_000045.4(ARG1):c.553G>C (p.Gly185Arg) GRCh37: Chr6:131903848 GRCh38: Chr6:131582708	ARG1, MED23	G185R, G193R	Arginase deficiency	Uncertain significance (Sep 24, 2021)	criteria provided, single submitter
Select item 214854423.	NM_000045.4(ARG1):c.934C>T (p.His312Tyr) GRCh37: Chr6:131905013 GRCh38: Chr6:131583873	MED23, ARG1	H320Y, H227Y, H312Y	Arginase deficiency	Uncertain significance (Apr 7, 2022)	criteria provided, single submitter
Select item 214601524.	NM_000045.4(ARG1):c.237G>C (p.Gln79His) GRCh37: Chr6:131900357 GRCh38: Chr6:131579217	ARG1, MED23	Q79H, Q87H	Inborn genetic diseases, Arginase deficiency	Uncertain significance (Aug 16, 2022)	criteria provided, multiple submitters, no conflicts
Select item 213647125.	NM_000045.4(ARG1):c.673del (p.Arg225fs) GRCh37: Chr6:131904499 GRCh38: Chr6:131583359	ARG1, MED23	R233fs, R225fs, R140fs	Arginase deficiency	Pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 213647026.	NM_000045.4(ARG1):c.401C>T (p.Thr134Ile) GRCh37: Chr6:131902454 GRCh38: Chr6:131581314	ARG1, MED23	T142I, T134I	Arginase deficiency	Pathogenic (May 18, 2022)	criteria provided, single submitter
Select item 213549127.	NM_000045.4(ARG1):c.906T>G (p.Ala302=) GRCh37: Chr6:131904985 GRCh38: Chr6:131583845	ARG1, MED23		Arginase deficiency	Likely benign (May 8, 2022)	criteria provided, single submitter
Select item 213355628.	NM_000045.4(ARG1):c.666-2A>C GRCh37: Chr6:131904493 GRCh38: Chr6:131583353	ARG1, MED23		Arginase deficiency	Pathogenic (May 4, 2022)	criteria provided, single submitter
Select item 213355529.	NM_000045.4(ARG1):c.364T>G (p.Trp122Gly) GRCh37: Chr6:131902417 GRCh38: Chr6:131581277	ARG1, MED23	W122G, W130G	Arginase deficiency	Uncertain significance (May 4, 2022)	criteria provided, single submitter
Select item 212947730.	NM_000045.4(ARG1):c.159_163del (p.Pro54fs) GRCh37: Chr6:131900276-131900280 GRCh38: Chr6:131579136-131579140	ARG1, MED23	P54fs, P62fs	Arginase deficiency	Pathogenic (Apr 23, 2022)	criteria provided, single submitter
Select item 212466031.	NM_000045.4(ARG1):c.168T>A (p.Ala56=) GRCh37: Chr6:131900288 GRCh38: Chr6:131579148	ARG1, MED23		Arginase deficiency	Likely benign (Sep 27, 2022)	criteria provided, single submitter
Select item 212446832.	NM_000045.4(ARG1):c.640del (p.Glu214fs) GRCh37: Chr6:131904279 GRCh38: Chr6:131583139	ARG1, MED23	E129fs, E214fs, E222fs	Arginase deficiency	Pathogenic (Oct 13, 2022)	criteria provided, single submitter
Select item 212080133.	NM_000045.4(ARG1):c.157C>T (p.Leu53=) GRCh37: Chr6:131900277 GRCh38: Chr6:131579137	ARG1, MED23		Arginase deficiency	Likely benign (Apr 2, 2022)	criteria provided, single submitter
Select item 211522534.	NM_000045.4(ARG1):c.130+8_130+9del GRCh37: Chr6:131897880-131897881 GRCh38: Chr6:131576740-131576741	ARG1, MED23		Arginase deficiency	Likely benign (Mar 24, 2022)	criteria provided, single submitter
Select item 210988035.	NM_000045.4(ARG1):c.900C>G (p.Thr300=) GRCh37: Chr6:131904979 GRCh38: Chr6:131583839	ARG1, MED23		Arginase deficiency	Likely benign (Mar 12, 2022)	criteria provided, single submitter
Select item 210284736.	NM_000045.4(ARG1):c.789A>G (p.Glu263=) GRCh37: Chr6:131904618 GRCh38: Chr6:131583478	ARG1, MED23		Arginase deficiency	Likely benign (Feb 24, 2022)	criteria provided, single submitter
Select item 210247737.	NM_000045.4(ARG1):c.57+1G>T GRCh37: Chr6:131894480 GRCh38: Chr6:131573340	ARG1		Arginase deficiency	Pathogenic (Mar 6, 2022)	criteria provided, single submitter
Select item 210030438.	NM_000045.4(ARG1):c.665+11_665+27del GRCh37: Chr6:131904314-131904330 GRCh38: Chr6:131583174-131583190	ARG1, MED23		Arginase deficiency	Likely benign (Aug 10, 2022)	criteria provided, single submitter
Select item 209771239.	NM_000045.4(ARG1):c.832G>C (p.Val278Leu) GRCh37: Chr6:131904911 GRCh38: Chr6:131583771	ARG1, MED23	V193L, V278L, V286L	Arginase deficiency	Uncertain significance (Aug 6, 2022)	criteria provided, single submitter
Select item 209122240.	NM_000045.4(ARG1):c.241G>T (p.Ala81Ser) GRCh37: Chr6:131900361 GRCh38: Chr6:131579221	ARG1, MED23	A89S, A81S	Arginase deficiency	Uncertain significance (Jul 13, 2022)	criteria provided, single submitter
Select item 209042141.	NM_000045.4(ARG1):c.282C>T (p.Ser94=) GRCh37: Chr6:131900402 GRCh38: Chr6:131579262	ARG1, MED23		Arginase deficiency	Likely benign (Jan 27, 2022)	criteria provided, single submitter
Select item 209009542.	NM_000045.4(ARG1):c.69G>A (p.Gly23=) GRCh37: Chr6:131897814 GRCh38: Chr6:131576674	ARG1, MED23		Arginase deficiency	Likely benign (Jan 26, 2022)	criteria provided, single submitter
Select item 208945943.	NM_000045.4(ARG1):c.318A>G (p.Gly106=) GRCh37: Chr6:131902371 GRCh38: Chr6:131581231	ARG1, MED23		Arginase deficiency	Likely benign (Jun 9, 2022)	criteria provided, single submitter
Select item 208841244.	NM_000045.4(ARG1):c.130+9_130+10insTTTTTTTTTTTTTTTTTTTTNNNNNNNNNNTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCAGAACAAGGTAATTTTT GRCh37: Chr6:131897867-131897868 GRCh38: Chr6:131576727-131576728	ARG1, MED23		Arginase deficiency	Uncertain significance (Jan 20, 2022)	criteria provided, single submitter
Select item 208572745.	NM_000045.4(ARG1):c.673A>C (p.Arg225=) GRCh37: Chr6:131904502 GRCh38: Chr6:131583362	ARG1, MED23		Arginase deficiency	Likely benign (Jan 16, 2022)	criteria provided, single submitter
Select item 207988446.	NM_000045.4(ARG1):c.789A>T (p.Glu263Asp) GRCh37: Chr6:131904618 GRCh38: Chr6:131583478	ARG1, MED23	E263D, E271D, E178D	Arginase deficiency	Uncertain significance (Jul 1, 2022)	criteria provided, single submitter
Select item 207394547.	NM_000045.4(ARG1):c.646C>G (p.Leu216Val) GRCh37: Chr6:131904285 GRCh38: Chr6:131583145	ARG1, MED23	L131V, L216V, L224V	Arginase deficiency	Uncertain significance (Jul 6, 2022)	criteria provided, single submitter
Select item 206975948.	NM_000045.4(ARG1):c.131-4T>A GRCh37: Chr6:131900247 GRCh38: Chr6:131579107	ARG1, MED23	L51I	Arginase deficiency	Likely benign (Oct 14, 2022)	criteria provided, single submitter
Select item 206493049.	NM_000045.4(ARG1):c.594_595dup (p.Ser199fs) GRCh37: Chr6:131904230-131904231 GRCh38: Chr6:131583090-131583091	ARG1, MED23	S199fs, S207fs, S114fs	Arginase deficiency	Pathogenic (Sep 19, 2022)	criteria provided, single submitter
Select item 205836450.	NM_000045.4(ARG1):c.802+1G>A GRCh37: Chr6:131904632 GRCh38: Chr6:131583492	ARG1, MED23		Arginase deficiency	Pathogenic (Apr 28, 2022)	criteria provided, single submitter
Select item 205584851.	NM_000045.4(ARG1):c.802+4G>C GRCh37: Chr6:131904635 GRCh38: Chr6:131583495	ARG1, MED23		Arginase deficiency	Uncertain significance (Jun 28, 2022)	criteria provided, single submitter
Select item 205063852.	NM_000045.4(ARG1):c.131-9T>C GRCh37: Chr6:131900242 GRCh38: Chr6:131579102	ARG1, MED23	L49S	Arginase deficiency	Likely benign (Dec 20, 2021)	criteria provided, single submitter
Select item 204167853.	NM_015979.4(MED23):c.4095+4355_4095+4358del GRCh37: Chr6:131904491-131904494 GRCh38: Chr6:131583351-131583354	ARG1, MED23		Arginase deficiency	Pathogenic (Jul 26, 2022)	criteria provided, single submitter
Select item 203725454.	NM_000045.4(ARG1):c.440T>C (p.Phe147Ser) GRCh37: Chr6:131902493 GRCh38: Chr6:131581353	ARG1, MED23	F155S, F147S	Arginase deficiency	Uncertain significance (Dec 8, 2021)	criteria provided, single submitter
Select item 203253655.	NM_000045.4(ARG1):c.519T>C (p.Asp173=) GRCh37: Chr6:131903814 GRCh38: Chr6:131582674	ARG1, MED23		Arginase deficiency	Likely benign (Sep 25, 2022)	criteria provided, single submitter
Select item 201854556.	NM_000045.4(ARG1):c.124_125insT (p.Glu42fs) GRCh37: Chr6:131897869-131897870 GRCh38: Chr6:131576729-131576730	ARG1, MED23	E42fs	Arginase deficiency	Pathogenic (Jul 21, 2022)	criteria provided, single submitter
Select item 200942057.	NM_000045.4(ARG1):c.839C>T (p.Pro280Leu) GRCh37: Chr6:131904918 GRCh38: Chr6:131583778	ARG1, MED23	P288L, P195L, P280L	Arginase deficiency	Uncertain significance (Jun 22, 2022)	criteria provided, single submitter
Select item 200824758.	NM_000045.4(ARG1):c.58-18T>C GRCh37: Chr6:131897785 GRCh38: Chr6:131576645	MED23, ARG1		Arginase deficiency	Uncertain significance (Jun 19, 2022)	criteria provided, single submitter
Select item 200794559.	NM_000045.4(ARG1):c.30T>C (p.Ile10=) GRCh37: Chr6:131894452 GRCh38: Chr6:131573312	ARG1		Arginase deficiency	Likely benign (Jun 21, 2022)	criteria provided, single submitter
Select item 200710360.	NM_000045.4(ARG1):c.5G>T (p.Ser2Ile) GRCh37: Chr6:131894427 GRCh38: Chr6:131573287	ARG1	S2I	Arginase deficiency	Uncertain significance (Nov 27, 2021)	criteria provided, single submitter
Select item 200185561.	NM_000045.4(ARG1):c.687A>C (p.Leu229=) GRCh37: Chr6:131904516 GRCh38: Chr6:131583376	ARG1, MED23		Arginase deficiency	Likely benign (Jun 1, 2022)	criteria provided, single submitter
Select item 199981462.	NM_000045.4(ARG1):c.157del (p.Leu53fs) GRCh37: Chr6:131900276 GRCh38: Chr6:131579136	ARG1, MED23	L53fs, L61fs	Arginase deficiency	Pathogenic (May 28, 2022)	criteria provided, single submitter
Select item 199823063.	NM_000045.4(ARG1):c.58-18T>A GRCh37: Chr6:131897785 GRCh38: Chr6:131576645	ARG1, MED23		Arginase deficiency	Uncertain significance (May 24, 2022)	criteria provided, single submitter
Select item 199657964.	NM_000045.4(ARG1):c.58-8T>C GRCh37: Chr6:131897795 GRCh38: Chr6:131576655	ARG1, MED23		Arginase deficiency	Uncertain significance (Aug 19, 2022)	criteria provided, single submitter
Select item 199532065.	NM_000045.4(ARG1):c.162C>T (p.Pro54=) GRCh37: Chr6:131900282 GRCh38: Chr6:131579142	ARG1, MED23		Arginase deficiency	Likely benign (May 16, 2022)	criteria provided, single submitter
Select item 199286566.	NM_000045.4(ARG1):c.568T>C (p.Leu190=) GRCh37: Chr6:131904207 GRCh38: Chr6:131583067	ARG1, MED23		Arginase deficiency	Likely benign (Sep 14, 2022)	criteria provided, single submitter
Select item 198893567.	NM_000045.4(ARG1):c.915A>G (p.Gly305=) GRCh37: Chr6:131904994 GRCh38: Chr6:131583854	ARG1, MED23		Arginase deficiency	Likely benign (Oct 7, 2022)	criteria provided, single submitter
Select item 198724168.	NM_000045.4(ARG1):c.589T>C (p.Tyr197His) GRCh37: Chr6:131904228 GRCh38: Chr6:131583088	ARG1, MED23	Y112H, Y197H, Y205H	Arginase deficiency	Uncertain significance (Sep 1, 2022)	criteria provided, multiple submitters, no conflicts
Select item 198364469.	NM_000045.4(ARG1):c.533G>A (p.Gly178Asp) GRCh37: Chr6:131903828 GRCh38: Chr6:131582688	ARG1, MED23	G178D, G186D	Arginase deficiency	Uncertain significance (Apr 17, 2022)	criteria provided, single submitter
Select item 197983070.	NM_000045.4(ARG1):c.14C>G (p.Ser5Cys) GRCh37: Chr6:131894436 GRCh38: Chr6:131573296	ARG1	S5C	Arginase deficiency	Uncertain significance (Jul 25, 2022)	criteria provided, single submitter
Select item 197838971.	NM_000045.4(ARG1):c.582C>T (p.Gly194=) GRCh37: Chr6:131904221 GRCh38: Chr6:131583081	ARG1, MED23		Arginase deficiency	Likely benign (Apr 1, 2022)	criteria provided, single submitter
Select item 197426672.	NM_000045.4(ARG1):c.306-1G>T GRCh37: Chr6:131902358 GRCh38: Chr6:131581218	ARG1, MED23		Arginase deficiency	Likely pathogenic (Dec 31, 2021)	criteria provided, single submitter
Select item 197364673.	NM_000045.4(ARG1):c.371A>G (p.Asp124Gly) GRCh37: Chr6:131902424 GRCh38: Chr6:131581284	ARG1, MED23	D124G, D132G	Arginase deficiency	Uncertain significance (Jan 26, 2022)	criteria provided, single submitter
Select item 197209574.	NM_000045.4(ARG1):c.827T>C (p.Met276Thr) GRCh37: Chr6:131904906 GRCh38: Chr6:131583766	ARG1, MED23	M284T, M191T, M276T	Arginase deficiency	Uncertain significance (Aug 10, 2022)	criteria provided, single submitter
Select item 196409575.	NM_000045.4(ARG1):c.159G>A (p.Leu53=) GRCh37: Chr6:131900279 GRCh38: Chr6:131579139	ARG1, MED23		Arginase deficiency	Likely benign (Oct 25, 2022)	criteria provided, single submitter
Select item 195452976.	NM_000045.4(ARG1):c.420G>A (p.Leu140=) GRCh37: Chr6:131902473 GRCh38: Chr6:131581333	ARG1, MED23		Arginase deficiency	Likely benign (Jun 25, 2022)	criteria provided, single submitter
Select item 195356177.	NM_000045.4(ARG1):c.561-6T>C GRCh37: Chr6:131904194 GRCh38: Chr6:131583054	ARG1, MED23		Arginase deficiency	Likely benign (Mar 4, 2022)	criteria provided, single submitter
Select item 194623378.	NM_000045.4(ARG1):c.673A>G (p.Arg225Gly) GRCh37: Chr6:131904502 GRCh38: Chr6:131583362	ARG1, MED23	R140G, R225G, R233G	Arginase deficiency	Uncertain significance (Feb 25, 2022)	criteria provided, single submitter
Select item 194567179.	NM_000045.4(ARG1):c.4A>G (p.Ser2Gly) GRCh37: Chr6:131894426 GRCh38: Chr6:131573286	ARG1	S2G	Arginase deficiency	Uncertain significance (Dec 31, 2021)	criteria provided, single submitter
Select item 193619080.	NM_000045.4(ARG1):c.104G>A (p.Gly35Asp) GRCh37: Chr6:131897849 GRCh38: Chr6:131576709	ARG1, MED23	G35D	Arginase deficiency	Uncertain significance (Jan 27, 2022)	criteria provided, single submitter
Select item 193449381.	NM_000045.4(ARG1):c.803-12TTG[2] GRCh37: Chr6:131904870-131904872 GRCh38: Chr6:131583730-131583732	ARG1, MED23		Arginase deficiency	Uncertain significance (Sep 1, 2021)	criteria provided, single submitter
Select item 193090382.	NM_000045.4(ARG1):c.128A>G (p.Gln43Arg) GRCh37: Chr6:131897873 GRCh38: Chr6:131576733	ARG1, MED23	Q43R	Arginase deficiency	Uncertain significance (Jun 18, 2022)	criteria provided, single submitter
Select item 192712483.	NM_000045.4(ARG1):c.306-1del GRCh37: Chr6:131902358 GRCh38: Chr6:131581218	ARG1, MED23		Arginase deficiency	Likely pathogenic (Jun 13, 2022)	criteria provided, single submitter
Select item 191837184.	NM_000045.4(ARG1):c.957C>A (p.Asn319Lys) GRCh37: Chr6:131905036 GRCh38: Chr6:131583896	ARG1, MED23	N319K, N327K, N234K	Arginase deficiency	Uncertain significance (Jul 19, 2022)	criteria provided, single submitter
Select item 191803085.	NM_000045.4(ARG1):c.920C>T (p.Ala307Val) GRCh37: Chr6:131904999 GRCh38: Chr6:131583859	ARG1, MED23	A315V, A307V, A222V	Arginase deficiency	Uncertain significance (Mar 9, 2022)	criteria provided, single submitter
Select item 191780786.	NM_000045.4(ARG1):c.275G>T (p.Arg92Ile) GRCh37: Chr6:131900395 GRCh38: Chr6:131579255	ARG1, MED23	R100I, R92I	Arginase deficiency	Uncertain significance (Jan 3, 2022)	criteria provided, single submitter
Select item 191319487.	NM_000045.4(ARG1):c.665+7T>G GRCh37: Chr6:131904311 GRCh38: Chr6:131583171	ARG1, MED23		Arginase deficiency	Likely benign (Dec 2, 2021)	criteria provided, single submitter
Select item 191237688.	NM_000045.4(ARG1):c.516G>A (p.Lys172=) GRCh37: Chr6:131903811 GRCh38: Chr6:131582671	ARG1, MED23		Arginase deficiency	Likely benign (Oct 1, 2022)	criteria provided, single submitter
Select item 190142589.	NM_000045.4(ARG1):c.362T>C (p.Ile121Thr) GRCh37: Chr6:131902415 GRCh38: Chr6:131581275	ARG1, MED23	I121T, I129T	Arginase deficiency	Uncertain significance (Mar 27, 2022)	criteria provided, single submitter
Select item 180659990.	NM_000045.4(ARG1):c.75A>C (p.Glu25Asp) GRCh37: Chr6:131897820 GRCh38: Chr6:131576680	ARG1, MED23	E25D	Arginase deficiency, not provided	Conflicting interpretations of pathogenicity (Oct 24, 2022)	criteria provided, conflicting interpretations
Select item 172688891.	NM_000045.4(ARG1):c.145_146insC (p.Asp49fs) GRCh37: Chr6:131900265-131900266 GRCh38: Chr6:131579125-131579126	MED23, ARG1	D49fs, D57fs	Arginase deficiency	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172686792.	NM_000045.4(ARG1):c.182_184delinsG (p.Asp61fs) GRCh37: Chr6:131900302-131900304 GRCh38: Chr6:131579162-131579164	MED23, ARG1	D61fs, D69fs	Arginase deficiency	Likely pathogenic (Jan 2, 2022)	criteria provided, single submitter
Select item 172674293.	NM_000045.4(ARG1):c.432_448del (p.Val145fs) GRCh37: Chr6:131902485-131902501 GRCh38: Chr6:131581345-131581361	ARG1, MED23	V145fs, V153fs	Arginase deficiency	Likely pathogenic (Dec 31, 2021)	criteria provided, single submitter
Select item 172653394.	NM_000045.4(ARG1):c.637G>T (p.Glu213Ter) GRCh37: Chr6:131904276 GRCh38: Chr6:131583136	ARG1, MED23	E128, E213, E221*	Arginase deficiency	Likely pathogenic (Dec 17, 2021)	criteria provided, single submitter
Select item 172584695.	NM_000045.4(ARG1):c.459del (p.Gly154fs) GRCh37: Chr6:131902509 GRCh38: Chr6:131581369	ARG1, MED23	G154fs, G162fs	Arginase deficiency	Likely pathogenic (Apr 3, 2022)	criteria provided, single submitter
Select item 172427696.	NM_000045.4(ARG1):c.661G>T (p.Gly221Ter) GRCh37: Chr6:131904300 GRCh38: Chr6:131583160	MED23, ARG1	G136, G221, G229*	Arginase deficiency	Likely pathogenic (Feb 3, 2022)	criteria provided, single submitter
Select item 172421797.	NM_000045.4(ARG1):c.143_146del (p.Lys48fs) GRCh37: Chr6:131900261-131900264 GRCh38: Chr6:131579121-131579124	ARG1, MED23	K48fs, K56fs	Arginase deficiency	Likely pathogenic (Feb 2, 2022)	criteria provided, single submitter
Select item 172416998.	NM_000045.4(ARG1):c.140_141del (p.Val47fs) GRCh37: Chr6:131900258-131900259 GRCh38: Chr6:131579118-131579119	ARG1, MED23	V47fs, V55fs	Arginase deficiency	Likely pathogenic (Jan 28, 2022)	criteria provided, single submitter
Select item 172408199.	NM_000045.4(ARG1):c.148_149insTTATGTAGTGCAAC (p.Tyr50delinsPheMetTer) GRCh37: Chr6:131900268-131900269 GRCh38: Chr6:131579128-131579129	ARG1, MED23		Arginase deficiency	Likely pathogenic (Jan 25, 2022)	criteria provided, single submitter
Select item 1723397100.	NM_000045.4(ARG1):c.314_345delinsATGCAAGCATCAGGATGACT (p.Ile105_His115delinsAsnAlaSerIleArgMetThr) GRCh37: Chr6:131902367-131902398 GRCh38: Chr6:131581227-131581258	ARG1, MED23		Arginase deficiency, not specified	Conflicting interpretations of pathogenicity (Oct 28, 2022)	criteria provided, conflicting interpretations

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