"GeneDx"[submitter] AND "ALAS2"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58618	GRCh38/hg38 Xp11.22-11.1(chrX:52363196-58455952)x2	ALAS2, APEX2 +146 more	Copy number gain	See cases	GPathogenic
Select item 145980	GRCh38/hg38 Xp11.22-q21.31(chrX:53985575-92203108)x1	HDAC8, HDX +410 more	Copy number loss	See cases	GPathogenic
Select item 913522	NM_000032.5(ALAS2):c.*124C>T	ALAS2, APEX2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 368590	NM_000032.5(ALAS2):c.*56A>C	ALAS2	Single nucleotide variant (3 prime UTR variant)	X-linked sideroblastic anemia 1 +1 more	GBenign
Select item 40978	NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe)	ALAS2 (Y586F +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 214091	NM_000032.5(ALAS2):c.1718C>T (p.Ser573Phe)	ALAS2 (S573F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 214104	NM_000032.5(ALAS2):c.1699A>G (p.Met567Val)	ALAS2 (M567V +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 393267	NM_000032.5(ALAS2):c.1693G>C (p.Glu565Gln)	ALAS2 (E565Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1303063	NM_000032.5(ALAS2):c.1679G>A (p.Arg560His)	ALAS2 (R523H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 214100	NM_000032.5(ALAS2):c.1676G>C (p.Arg559Pro)	ALAS2 (R559P +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 214090	NM_000032.5(ALAS2):c.1676G>A (p.Arg559His)	ALAS2 (R559H +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 388258	NM_000032.5(ALAS2):c.1647T>C (p.Asp549=)	ALAS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 368591	NM_000032.5(ALAS2):c.1626G>A (p.Ala542=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 673081	NM_000032.5(ALAS2):c.1600+315A>G	ALAS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200598	NM_000032.5(ALAS2):c.1600+154G>A	ALAS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 368592	NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr)	ALAS2 (H523Y +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 214089	NM_000032.5(ALAS2):c.1560C>A (p.Pro520=)	ALAS2	Single nucleotide variant (synonymous variant)	X-linked sideroblastic anemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 214088	NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu)	ALAS2 (P520L +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2574898	NM_000032.5(ALAS2):c.1519C>T (p.Pro507Ser)	ALAS2 (P470S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 136356	NM_000032.5(ALAS2):c.1438-16T>G	ALAS2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 136355	NM_000032.5(ALAS2):c.1438-19G>C	ALAS2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1281762	NM_000032.5(ALAS2):c.1437+263del	ALAS2	Deletion (intron variant)	not provided	GBenign
Select item 1219221	NM_000032.5(ALAS2):c.1437G>C (p.Arg479=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 214087	NM_000032.5(ALAS2):c.1436G>A (p.Arg479Gln)	ALAS2 (R479Q +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 1314821	NM_000032.5(ALAS2):c.1411T>C (p.Cys471Arg)	ALAS2 (C434R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 381509	NM_000032.5(ALAS2):c.1395C>T (p.Gly465=)	ALAS2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 214099	NM_000032.5(ALAS2):c.1355G>A (p.Arg452His)	ALAS2 (R452H +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 10485	NM_000032.5(ALAS2):c.1354C>T (p.Arg452Cys)	ALAS2 (R452C +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 214098	NM_000032.5(ALAS2):c.1318G>C (p.Gly440Arg)	ALAS2 (G440R +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 1303876	NM_000032.5(ALAS2):c.1315A>G (p.Lys439Glu)	ALAS2 (K402E +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253016	NM_000032.5(ALAS2):c.1273C>T (p.Pro425Ser)	ALAS2 (P388S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1312348	NM_000032.5(ALAS2):c.1207A>G (p.Thr403Ala)	ALAS2 (T366A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1274114	NM_000032.5(ALAS2):c.1169-157C>T	ALAS2, LOC108511947	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1214960	NM_000032.5(ALAS2):c.1169-209A>T	ALAS2, LOC108511947	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 136354	NM_000032.5(ALAS2):c.1167T>G (p.Leu389=)	ALAS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 387592	NM_000032.5(ALAS2):c.1160G>C (p.Gly387Ala)	ALAS2 (G387A +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 214097	NM_000032.5(ALAS2):c.1136T>C (p.Met379Thr)	ALAS2 (M379T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 383289	NM_000032.5(ALAS2):c.1103G>A (p.Arg368Gln)	ALAS2 (R368Q +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 214096	NM_000032.5(ALAS2):c.1093T>C (p.Tyr365His)	ALAS2 (Y365H +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 136353	NM_000032.5(ALAS2):c.1092G>A (p.Leu364=)	ALAS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 384341	NM_000032.5(ALAS2):c.1061C>T (p.Thr354Ile)	ALAS2 (T354I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 449992	NM_000032.5(ALAS2):c.1057C>G (p.Leu353Val)	ALAS2 (L353V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1328685	NM_000032.5(ALAS2):c.1040C>T (p.Ser347Phe)	ALAS2 (S310F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 674111	NM_000032.5(ALAS2):c.1004-174G>A	ALAS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1277666	NM_000032.5(ALAS2):c.1004-221_1004-216del	ALAS2	Deletion (intron variant)	not provided	GBenign
Select item 1217173	NM_000032.5(ALAS2):c.1004-223_1004-216del	ALAS2	Deletion (intron variant)	not provided	GLikely benign
Select item 1199891	NM_000032.5(ALAS2):c.1004-219_1004-216del	ALAS2	Deletion (intron variant)	not provided	GLikely benign
Select item 1258596	NM_000032.5(ALAS2):c.1004-267CA[26]	ALAS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1296365	NM_000032.5(ALAS2):c.1004-267CA[24]	ALAS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1291692	NM_000032.5(ALAS2):c.1004-267CA[19]	ALAS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1276081	NM_000032.5(ALAS2):c.1004-267CA[22]	ALAS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1262632	NM_000032.5(ALAS2):c.1004-267CA[21]	ALAS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1260706	NM_000032.5(ALAS2):c.1004-267CA[23]	ALAS2	Microsatellite (intron variant)	not provided	GBenign
Select item 1187331	NM_000032.5(ALAS2):c.1004-221C>G	ALAS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1261207	NM_000032.5(ALAS2):c.1004-223C>G	ALAS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1215641	NM_000032.5(ALAS2):c.1004-241C>G	ALAS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 387958	NM_000032.5(ALAS2):c.1003+4T>C	ALAS2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1707795	NM_000032.5(ALAS2):c.912C>T (p.His304=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 681929	NM_000032.5(ALAS2):c.888A>G (p.Gly296=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 681414	NM_000032.5(ALAS2):c.844G>T (p.Ala282Ser)	ALAS2 (A269S +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 136352	NM_000032.5(ALAS2):c.828C>T (p.Cys276=)	ALAS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 136351	NM_000032.5(ALAS2):c.824-15C>T	ALAS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1227848	NM_000032.5(ALAS2):c.824-230G>C	ALAS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 509557	NM_000032.5(ALAS2):c.823+5G>A	ALAS2	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 368597	NM_000032.5(ALAS2):c.741C>T (p.His247=)	ALAS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1308554	NM_000032.5(ALAS2):c.713A>T (p.Glu238Val)	ALAS2 (E201V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 368598	NM_000032.5(ALAS2):c.661G>A (p.Ala221Thr)	ALAS2 (A221T +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 1206683	NM_000032.5(ALAS2):c.653G>A (p.Arg218His)	ALAS2 (R181H +2 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 508415	NM_000032.5(ALAS2):c.639-24_639-20dup	ALAS2	Duplication (intron variant)	not specified	GLikely benign
Select item 1194152	NM_000032.5(ALAS2):c.639-250del	ALAS2	Deletion (intron variant)	not provided	GLikely benign
Select item 1293231	NM_000032.5(ALAS2):c.638+93T>C	ALAS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1178579	NM_000032.5(ALAS2):c.638+60dup	ALAS2	Duplication (intron variant)	not provided	GLikely benign
Select item 214095	NM_000032.5(ALAS2):c.606G>A (p.Met202Ile)	ALAS2 (M202I +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 214086	NM_000032.5(ALAS2):c.577G>A (p.Val193Ile)	ALAS2 (V193I +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1214130	NM_000032.5(ALAS2):c.508C>T (p.Arg170Cys)	ALAS2 (R133C +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 386127	NM_000032.5(ALAS2):c.417A>G (p.Gly139=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 674644	NM_000032.5(ALAS2):c.416-34C>T	ALAS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1204850	NM_000032.5(ALAS2):c.416-75A>C	ALAS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 674110	NM_000032.5(ALAS2):c.415+197A>G	ALAS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383456	NM_000032.5(ALAS2):c.390A>G (p.Thr130=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 381284	NM_000032.5(ALAS2):c.381G>A (p.Gly127=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 1262393	NM_000032.5(ALAS2):c.305-204A>G	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186036	NM_000032.5(ALAS2):c.305-229T>G	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 136358	NM_000032.5(ALAS2):c.282A>G (p.Glu94=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 392108	NM_000032.5(ALAS2):c.278A>G (p.Gln93Arg)	ALAS2, LOC108663984 (Q93R +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 514393	NM_000032.5(ALAS2):c.231C>A (p.Leu77=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant)	X-linked sideroblastic anemia 1 +2 more	GBenign/Likely benign
Select item 214094	NM_000032.5(ALAS2):c.224C>T (p.Ser75Leu)	ALAS2, LOC108663984 (S75L +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 1283968	NM_000032.5(ALAS2):c.220C>T (p.Leu74=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 136357	NM_000032.5(ALAS2):c.198G>A (p.Ala66=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign
Select item 796854	NM_000032.5(ALAS2):c.197C>T (p.Ala66Val)	ALAS2, LOC108663984 (A90V +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 214093	NM_000032.5(ALAS2):c.190T>C (p.Ser64Pro)	ALAS2, LOC108663984 (S64P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1201264	NM_000032.5(ALAS2):c.182-77T>A	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1241604	NM_000032.5(ALAS2):c.182-286C>T	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1203476	NM_000032.5(ALAS2):c.181+52A>G	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3365374	NM_000032.5(ALAS2):c.115C>T (p.Pro39Ser)	ALAS2, LOC108663984 (P39S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1296553	NM_000032.5(ALAS2):c.-15-282G>T	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1244731	NM_000032.5(ALAS2):c.-15-1553C>T	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 214101	NM_000032.5(ALAS2):c.-15-1731G>A	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 214092	NM_000032.5(ALAS2):c.-15-1790G>A	ALAS2, LOC108663984 (M1I)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GBenign
Select item 1191378	NM_000032.5(ALAS2):c.-15-1916A>C	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign

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