2628[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150128	GRCh38/hg38 15q21.1(chr15:44765914-45476854)x3	AFG2B, C15orf48 +42 more	Copy number gain	See cases	GUncertain significance
Select item 584325	NC_000015.9:g.(?_45152372)_(45670671_?)dup	SLC28A2, SLC28A2-AS1 +26 more	Duplication	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 155188	GRCh38/hg38 15q21.1(chr15:45026980-45579878)x3	AFG2B, C15orf48 +40 more	Copy number gain	See cases	GUncertain significance
Select item 155435	GRCh38/hg38 15q21.1(chr15:45032714-45592481)x3	AFG2B, BLOC1S6 +42 more	Copy number gain	See cases	GUncertain significance
Select item 2499649	GRCh38/hg38 15q21.1(chr15:45092835-45433283)	DUOXA1, DUOXA2 +31 more	Copy number gain	Anomalous pulmonary venous return	GUncertain significance
Select item 316200	NM_001482.3(GATM):c.*940C>T	GATM	Single nucleotide variant (3 prime UTR variant)	Arginine:glycine amidinotransferase deficiency	GBenign FDA Recognized database
Select item 316201	NM_001482.3(GATM):c.*913G>A	GATM	Single nucleotide variant (3 prime UTR variant)	Arginine:glycine amidinotransferase deficiency	GBenign
Select item 316202	NM_001482.3(GATM):c.*847G>A	GATM	Single nucleotide variant (3 prime UTR variant)	Arginine:glycine amidinotransferase deficiency	GBenign FDA Recognized database
Select item 885305	NM_001482.3(GATM):c.*799T>C	GATM	Single nucleotide variant (3 prime UTR variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 885306	NM_001482.3(GATM):c.*792C>A	GATM	Single nucleotide variant (3 prime UTR variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 885307	NM_001482.3(GATM):c.*759C>T	GATM	Single nucleotide variant (3 prime UTR variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 316203	NM_001482.3(GATM):c.734_735insCA	GATM	Insertion (3 prime UTR variant)	Arginine:glycine amidinotransferase deficiency	GBenign FDA Recognized database
Select item 316204	NM_001482.3(GATM):c.*715T>C	GATM	Single nucleotide variant (3 prime UTR variant)	Arginine:glycine amidinotransferase deficiency	GBenign
Select item 886209	NM_001482.3(GATM):c.*713T>A	GATM	Single nucleotide variant (3 prime UTR variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 316205	NM_001482.3(GATM):c.*699A>C	GATM	Single nucleotide variant (3 prime UTR variant)	Arginine:glycine amidinotransferase deficiency	GBenign FDA Recognized database
Select item 316206	NM_001482.3(GATM):c.*600A>G	GATM	Single nucleotide variant (3 prime UTR variant)	Arginine:glycine amidinotransferase deficiency	GBenign FDA Recognized database
Select item 316207	NM_001482.3(GATM):c.*595C>A	GATM	Single nucleotide variant (3 prime UTR variant)	Arginine:glycine amidinotransferase deficiency	GBenign
Select item 886210	NM_001482.3(GATM):c.*555A>G	GATM	Single nucleotide variant (3 prime UTR variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 886211	NM_001482.3(GATM):c.*272C>T	GATM	Single nucleotide variant (3 prime UTR variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 886212	NM_001482.3(GATM):c.*125G>A	GATM	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 316208	NM_001482.3(GATM):c.*104A>G	GATM	Single nucleotide variant (3 prime UTR variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance FDA Recognized database
Select item 887211	NM_001482.3(GATM):c.*55C>A	GATM	Single nucleotide variant (3 prime UTR variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 887212	NM_001482.3(GATM):c.*28C>T	GATM	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 316209	NM_001482.3(GATM):c.*27C>G	GATM	Single nucleotide variant (3 prime UTR variant)	Arginine:glycine amidinotransferase deficiency	GBenign FDA Recognized database
Select item 589915	NM_001482.3(GATM):c.1269C>G (p.Asp423Glu)	GATM (D423E +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance FDA Recognized database
Select item 1545357	NM_001482.3(GATM):c.1264T>C (p.Leu422=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 509542	NM_001482.3(GATM):c.1257G>A (p.Gln419=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign FDA Recognized database
Select item 1574047	NM_001482.3(GATM):c.1254A>G (p.Leu418=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 129137	NM_001482.3(GATM):c.1252T>C (p.Leu418=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GBenign FDA Recognized database
Select item 3000640	NM_001482.3(GATM):c.1248C>A (p.Gly416=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 3022676	NM_001482.3(GATM):c.1245A>G (p.Arg415=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 386277	NM_001482.3(GATM):c.1245A>C (p.Arg415=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign FDA Recognized database
Select item 225921	NM_001482.3(GATM):c.1244G>A (p.Arg415Gln)	GATM (R415Q +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GBenign FDA Recognized database
Select item 1053957	NM_001482.3(GATM):c.1243C>T (p.Arg415Ter)	GATM (R286* +1 more)	Single nucleotide variant (nonsense)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2107481	NM_001482.3(GATM):c.1241G>A (p.Arg414His)	GATM (R285H +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 1140708	NM_001482.3(GATM):c.1239G>C (p.Arg413=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 137451	NM_001482.3(GATM):c.1239G>A (p.Arg413=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GBenign FDA Recognized database
Select item 2446451	NM_001482.3(GATM):c.1238G>A (p.Arg413Gln)	GATM (R284Q +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GLikely pathogenic FDA Recognized database
Select item 598112	NM_001482.3(GATM):c.1237C>T (p.Arg413Trp)	GATM (R413W +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GLikely pathogenic FDA Recognized database
Select item 2699173	NM_001482.3(GATM):c.1234G>A (p.Val412Ile)	GATM (V412I +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 625953	NM_001482.3(GATM):c.1231G>A (p.Asp411Asn)	GATM (D411N +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance FDA Recognized database
Select item 1106376	NM_001482.3(GATM):c.1230C>T (p.Cys410=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2791327	NM_001482.3(GATM):c.1227C>G (p.Thr409=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 510409	NM_001482.3(GATM):c.1227C>T (p.Thr409=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign FDA Recognized database
Select item 2719012	NM_001482.3(GATM):c.1218T>C (p.His406=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 590166	NM_001482.3(GATM):c.1212C>A (p.Gly404=)	GATM	Single nucleotide variant (synonymous variant)	Inborn genetic diseases	GLikely benign
Select item 570204	NM_001482.3(GATM):c.1209del (p.Gly404fs)	GATM (G275fs +1 more)	Deletion (frameshift variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance FDA Recognized database
Select item 2913810	NM_001482.3(GATM):c.1201C>T (p.Leu401=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2761215	NM_001482.3(GATM):c.1200C>T (p.Ser400=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 1106978	NM_001482.3(GATM):c.1197T>C (p.Asn399=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2919835	NM_001482.3(GATM):c.1196A>G (p.Asn399Ser)	GATM (N270S +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 1612245	NM_001482.3(GATM):c.1194C>T (p.Ala398=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 1468592	NM_001482.3(GATM):c.1190A>G (p.Asn397Ser)	GATM (N397S +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2957686	NM_001482.3(GATM):c.1187G>A (p.Arg396His)	GATM (R396H +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2032441	NM_001482.3(GATM):c.1187del (p.Arg396fs)	GATM (R267fs +1 more)	Deletion (frameshift variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2187313	NM_001482.3(GATM):c.1186C>T (p.Arg396Cys)	GATM (R267C +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 1043107	NM_001482.3(GATM):c.1186C>A (p.Arg396Ser)	GATM (R267S +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2632315	NM_001482.3(GATM):c.1183A>G (p.Ile395Val)	GATM (I266V +1 more)	Single nucleotide variant (missense variant)	GATM-related condition	GUncertain significance
Select item 513891	NM_001482.3(GATM):c.1170C>G (p.Thr390=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign FDA Recognized database
Select item 1714173	NM_001482.3(GATM):c.1166C>G (p.Thr389Ser)	GATM (T260S +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 1430517	NM_001482.3(GATM):c.1166C>T (p.Thr389Ile)	GATM (T389I +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 654184	NM_001482.3(GATM):c.1162A>G (p.Ile388Val)	GATM (I259V +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance FDA Recognized database
Select item 2983448	NM_001482.3(GATM):c.1160G>A (p.Gly387Asp)	GATM (G387D +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 1551611	NM_001482.3(GATM):c.1160-14C>T	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2838573	NM_001482.3(GATM):c.1160-17T>C	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2036476	NM_001482.3(GATM):c.1160-18A>T	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 680745	NM_001482.3(GATM):c.1159+195A>G	GATM	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2196874	NM_001482.3(GATM):c.1159+20del	GATM	Deletion (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2696483	NM_001482.3(GATM):c.1159+19A>C	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 1179735	NM_001482.3(GATM):c.1159+19A>T	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency +1 more	GBenign
Select item 380744	NM_001482.3(GATM):c.1159+19A>G	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency +2 more	GLikely benign
Select item 2506268	NM_001482.3(GATM):c.1159+17A>T	GATM	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 316210	NM_001482.3(GATM):c.1159+14A>G	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance FDA Recognized database
Select item 1658980	NM_001482.3(GATM):c.1159+10A>G	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 1530102	NM_001482.3(GATM):c.1159+9A>C	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 316211	NM_001482.3(GATM):c.1159G>C (p.Gly387Arg)	GATM (G387R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 205619	NM_001482.3(GATM):c.1151A>G (p.Glu384Gly)	GATM (E384G +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2844270	NM_001482.3(GATM):c.1149T>C (p.Phe383=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2044971	NM_001482.3(GATM):c.1144A>T (p.Met382Leu)	GATM (M382L +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2845178	NM_001482.3(GATM):c.1143G>A (p.Lys381=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 1955445	NM_001482.3(GATM):c.1124A>G (p.Asn375Ser)	GATM (N246S +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2782664	NM_001482.3(GATM):c.1118A>G (p.Asp373Gly)	GATM (D244G +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 1483079	NM_001482.3(GATM):c.1116G>A (p.Val372=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 55918	NM_001482.3(GATM):c.1111dup (p.Met371fs)	GATM (M371fs +1 more)	Duplication (frameshift variant)	Arginine:glycine amidinotransferase deficiency	GPathogenic FDA Recognized database
Select item 2829366	NM_001482.3(GATM):c.1110T>C (p.Val370=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2016903	NM_001482.3(GATM):c.1108G>A (p.Val370Ile)	GATM (V370I +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 498635	NM_001482.3(GATM):c.1106G>A (p.Arg369His)	GATM (R369H +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 205618	NM_001482.3(GATM):c.1105C>T (p.Arg369Cys)	GATM (R369C +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency +2 more	GUncertain significance
Select item 888466	NM_001482.3(GATM):c.1088T>C (p.Leu363Ser)	GATM (L363S +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 651345	NM_001482.3(GATM):c.1085T>C (p.Val362Ala)	GATM (V233A +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 1370619	NM_001482.3(GATM):c.1082A>T (p.Asn361Ile)	GATM (N232I +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2844980	NM_001482.3(GATM):c.1079dup (p.Met360fs)	GATM (M360fs +1 more)	Duplication (frameshift variant)	Arginine:glycine amidinotransferase deficiency	GPathogenic
Select item 2842191	NM_001482.3(GATM):c.1079T>C (p.Met360Thr)	GATM (M231T +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 861077	NM_001482.3(GATM):c.1067A>G (p.Lys356Arg)	GATM (K227R +1 more)	Single nucleotide variant (missense variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2860507	NM_001482.3(GATM):c.1053C>T (p.Leu351=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2010343	NM_001482.3(GATM):c.1053C>G (p.Leu351=)	GATM	Single nucleotide variant (synonymous variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign
Select item 2747701	NM_001482.3(GATM):c.1043-1G>C	GATM	Single nucleotide variant (splice acceptor variant)	Arginine:glycine amidinotransferase deficiency	GLikely pathogenic
Select item 587965	NM_001482.3(GATM):c.1043-3T>C	GATM	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 848071	NM_001482.3(GATM):c.1043-4T>G	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GUncertain significance
Select item 2796447	NM_001482.3(GATM):c.1043-10C>T	GATM	Single nucleotide variant (intron variant)	Arginine:glycine amidinotransferase deficiency	GLikely benign

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