ClinVar for PubMed (Select 7649538) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2980910	NM_000045.4(ARG1):c.493dup (p.Val165fs)	ARG1, MED23 (V173fs +1 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 2866149	NM_000045.4(ARG1):c.326_353del (p.Ser109fs)	ARG1, MED23 (S117fs +1 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 2845490	NM_000045.4(ARG1):c.459dup (p.Gly154fs)	MED23, ARG1 (G162fs +1 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 2831245	NM_000045.4(ARG1):c.131-1G>T	ARG1, MED23 (E52*)	Single nucleotide variant (nonsense +2 more)	Arginase deficiency	GLikely pathogenic
Select item 2821709	NM_000045.4(ARG1):c.58-2A>T	ARG1, MED23	Single nucleotide variant (splice acceptor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 2746384	NM_000045.4(ARG1):c.457_465+18del	ARG1, MED23	Deletion (splice donor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 2710716	NM_000045.4(ARG1):c.435_438dup (p.Phe147fs)	ARG1, MED23 (F155fs +1 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 2678311	NM_000045.4(ARG1):c.603del (p.Glu202fs)	ARG1, MED23 (E117fs +2 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 2678300	NM_000045.4(ARG1):c.341_344dup (p.Asp117fs)	ARG1, MED23 (D117fs +1 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 2678221	NM_000045.4(ARG1):c.491G>A (p.Trp164Ter)	ARG1, MED23 (W164* +1 more)	Single nucleotide variant (nonsense +2 more)	Arginase deficiency	GPathogenic
Select item 2422189	NC_000006.11:g.(?_131900217)_(131902528_?)del	MED23, ARG1	Deletion	Arginase deficiency	GPathogenic
Select item 2136471	NM_000045.4(ARG1):c.673del (p.Arg225fs)	ARG1, MED23 (R233fs +2 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 2133556	NM_000045.4(ARG1):c.666-2A>C	ARG1, MED23	Single nucleotide variant (splice acceptor variant +1 more)	Arginase deficiency	GPathogenic
Select item 2129477	NM_000045.4(ARG1):c.159_163del (p.Pro54fs)	ARG1, MED23 (P54fs +1 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 2124468	NM_000045.4(ARG1):c.640del (p.Glu214fs)	ARG1, MED23 (E129fs +2 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 2102477	NM_000045.4(ARG1):c.57+1G>T	ARG1	Single nucleotide variant (splice donor variant)	Arginase deficiency	GPathogenic
Select item 2064930	NM_000045.4(ARG1):c.594_595dup (p.Ser199fs)	ARG1, MED23 (S199fs +2 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 2041678	NM_015979.4(MED23):c.4095+4355_4095+4358del	ARG1, MED23	Microsatellite (intron variant)	Arginase deficiency	GPathogenic
Select item 2018545	NM_000045.4(ARG1):c.124_125insT (p.Glu42fs)	ARG1, MED23 (E42fs)	Insertion (frameshift variant +1 more)	Arginase deficiency	GPathogenic
Select item 1999814	NM_000045.4(ARG1):c.157del (p.Leu53fs)	ARG1, MED23 (L53fs +1 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 1974266	NM_000045.4(ARG1):c.306-1G>T	ARG1, MED23	Single nucleotide variant (splice acceptor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 1927124	NM_000045.4(ARG1):c.306-1del	ARG1, MED23	Deletion (splice acceptor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 1523618	NM_000045.4(ARG1):c.665+2T>C	ARG1, MED23	Single nucleotide variant (splice donor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 1518205	NM_000045.4(ARG1):c.466-179_524del	ARG1, MED23	Deletion (splice acceptor variant +1 more)	Arginase deficiency	GLikely pathogenic
Select item 1501863	NM_000045.4(ARG1):c.560+2T>C	ARG1, MED23	Single nucleotide variant (splice donor variant +1 more)	Arginase deficiency	GPathogenic
Select item 1500820	NM_000045.4(ARG1):c.57+2_57+6del	ARG1	Deletion (splice donor variant)	Arginase deficiency	GLikely pathogenic
Select item 1451696	NM_000045.4(ARG1):c.577_578del (p.Leu193fs)	ARG1, MED23 (L108fs +2 more)	Microsatellite (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 1427598	NM_000045.4(ARG1):c.130+1G>A	ARG1, MED23	Single nucleotide variant (splice donor variant +1 more)	Arginase deficiency +1 more	GPathogenic
Select item 1386013	NM_000045.4(ARG1):c.603_604del (p.Glu202fs)	ARG1, MED23 (E117fs +2 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 1385981	NM_000045.4(ARG1):c.124G>T (p.Glu42Ter)	ARG1, MED23 (E42*)	Single nucleotide variant (nonsense +1 more)	Arginase deficiency	GPathogenic
Select item 1076486	NM_000045.4(ARG1):c.93del (p.Arg32fs)	ARG1, MED23 (R32fs)	Deletion (frameshift variant +1 more)	Arginase deficiency	GPathogenic
Select item 1075842	NM_000045.4(ARG1):c.684del (p.His228_Leu229insTer)	ARG1, MED23	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 1075123	NM_000045.4(ARG1):c.492G>A (p.Trp164Ter)	ARG1, MED23 (W164* +1 more)	Single nucleotide variant (nonsense +2 more)	Arginase deficiency	GPathogenic
Select item 1074774	NM_000045.4(ARG1):c.50del (p.Lys17fs)	ARG1 (K17fs)	Deletion (frameshift variant +1 more)	Arginase deficiency	GPathogenic
Select item 1072006	NM_000045.4(ARG1):c.272del (p.Gly91fs)	ARG1, MED23 (G91fs +1 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 1069104	NM_000045.4(ARG1):c.366G>A (p.Trp122Ter)	ARG1, MED23 (W122* +1 more)	Single nucleotide variant (nonsense +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 852613	NM_000045.4(ARG1):c.464dup (p.Ile156fs)	ARG1, MED23 (I156fs +1 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 847351	NM_000045.4(ARG1):c.142A>T (p.Lys48Ter)	ARG1, MED23 (K56* +1 more)	Single nucleotide variant (intron variant +2 more)	Arginase deficiency	GPathogenic
Select item 839881	NM_000045.4(ARG1):c.336dup (p.Arg113fs)	ARG1, MED23 (R121fs +1 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 837901	NM_000045.4(ARG1):c.131-1G>C	ARG1, MED23 (E52Q)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GLikely pathogenic
Select item 802269	NM_000045.4(ARG1):c.646_649del (p.Leu216fs)	ARG1, MED23 (L216fs +2 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 657467	NM_000045.4(ARG1):c.425del (p.Gly142fs)	ARG1, MED23 (G150fs +1 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 645245	NM_000045.4(ARG1):c.3G>A (p.Met1Ile)	ARG1 (M1I)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 578126	NM_000045.4(ARG1):c.189del (p.Gln65fs)	ARG1, MED23 (Q65fs +1 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic
Select item 557931	NM_000045.4(ARG1):c.129del (p.Glu44fs)	ARG1, MED23 (E44fs)	Deletion (frameshift variant +1 more)	Arginase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 557567	NM_000045.4(ARG1):c.466-2A>G	ARG1, MED23	Single nucleotide variant (splice acceptor variant +1 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 555971	NM_000045.4(ARG1):c.2T>C (p.Met1Thr)	ARG1 (M1T)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 553898	NM_000045.4(ARG1):c.372dup (p.Ala125fs)	ARG1, MED23 (A125fs +1 more)	Duplication (frameshift variant +2 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 419876	NM_000045.4(ARG1):c.466-1G>C	ARG1, MED23	Single nucleotide variant (splice acceptor variant +1 more)	Arginase deficiency +1 more	GPathogenic
Select item 419417	NM_000045.4(ARG1):c.703G>A (p.Gly235Arg)	MED23, ARG1 (G235R +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GPathogenic
Select item 203606	NM_000045.4(ARG1):c.272dup (p.Arg92fs)	ARG1, MED23 (R92fs +1 more)	Duplication (frameshift variant +2 more)	Arginase deficiency +1 more	GPathogenic/Likely pathogenic
Select item 2397	NM_000045.4(ARG1):c.61C>T (p.Arg21Ter)	ARG1, MED23 (R21*)	Single nucleotide variant (nonsense +1 more)	Arginase deficiency +2 more	GPathogenic
Select item 2395	NM_000045.4(ARG1):c.57+1G>A	ARG1	Single nucleotide variant (splice donor variant)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 2394	NM_000045.4(ARG1):c.413G>T (p.Gly138Val)	ARG1, MED23 (G138V +1 more)	Single nucleotide variant (missense variant +2 more)	Arginase deficiency	GUncertain significance
Select item 2393	NM_000045.4(ARG1):c.32T>C (p.Ile11Thr)	ARG1 (I11T)	Single nucleotide variant (missense variant +1 more)	Arginase deficiency	GPathogenic/Likely pathogenic
Select item 2390	NM_000045.4(ARG1):c.365G>A (p.Trp122Ter)	ARG1, MED23 (W122* +1 more)	Single nucleotide variant (nonsense +2 more)	Arginase deficiency +1 more	GPathogenic
Select item 2386	NM_000045.4(ARG1):c.263_266del (p.Lys88fs)	ARG1, MED23 (K88fs +1 more)	Deletion (frameshift variant +2 more)	Arginase deficiency	GPathogenic

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Links from PubMed

Items: 57