Related gene-specific medical variations for Gene (Select 212) - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3360098	NM_000032.5(ALAS2):c.1623_1625del (p.Ala542del)	ALAS2 (A505del +2 more)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 3352863	NM_000032.5(ALAS2):c.50G>A (p.Gly17Asp)	ALAS2, LOC108663984 (G17D +1 more)	Single nucleotide variant (missense variant)	ALAS2-related disorder	GUncertain significance
Select item 3341449	NM_000032.5(ALAS2):c.304+2T>C	LOC108663984, ALAS2	Single nucleotide variant (splice donor variant)	X-linked erythropoietic protoporphyria	GLikely pathogenic
Select item 3283244	NM_000032.5(ALAS2):c.26A>C (p.Gln9Pro)	ALAS2, LOC108663984 (Q9P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3242106	NM_000032.5(ALAS2):c.272_274dup (p.Glu91_Val92insGlu)	ALAS2, LOC108663984	Duplication (inframe_insertion)	X-linked sideroblastic anemia 1	GUncertain significance
Select item 3108452	NM_000032.5(ALAS2):c.4G>T (p.Val2Leu)	ALAS2, LOC108663984 (V2L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3108450	NM_000032.5(ALAS2):c.367G>A (p.Glu123Lys)	ALAS2, LOC108663984 (E123K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3075690	NM_000032.5(ALAS2):c.304+2T>A	ALAS2, LOC108663984	Single nucleotide variant (splice donor variant)	X-linked sideroblastic anemia 1	GLikely pathogenic
Select item 3065338	NM_000032.5(ALAS2):c.1168+19C>A	ALAS2	Single nucleotide variant (intron variant)	X-linked erythropoietic protoporphyria	GUncertain significance
Select item 3062098	NM_000032.5(ALAS2):c.146C>T (p.Ser49Phe)	ALAS2, LOC108663984 (S49F +1 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1	GUncertain significance
Select item 3046336	NM_000032.5(ALAS2):c.-15-2208C>T	ALAS2, LOC108663984 +1 more	Single nucleotide variant (intron variant)	ALAS2-related disorder	GLikely benign
Select item 3022999	NM_000032.5(ALAS2):c.181+11G>A	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3014088	NM_000032.5(ALAS2):c.1169-4C>A	ALAS2, LOC108511947	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2987273	NM_000032.5(ALAS2):c.332G>A (p.Ser111Asn)	ALAS2, LOC108663984 (S111N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2963183	NM_000032.5(ALAS2):c.182-18T>A	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2955924	NM_000032.5(ALAS2):c.182-8T>C	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2893480	NM_000032.5(ALAS2):c.351C>T (p.Ser117=)	ALAS2, LOC108663984	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 2876984	NM_000032.5(ALAS2):c.181+9del	ALAS2, LOC108663984	Deletion (intron variant)	not provided	GLikely benign
Select item 2871970	NM_000032.5(ALAS2):c.1169-15C>A	ALAS2, LOC108511947	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2843852	NM_000032.5(ALAS2):c.305-16T>A	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806114	NM_000032.5(ALAS2):c.126T>C (p.Ala42=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799845	NM_000032.5(ALAS2):c.182-15C>G	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2778599	NM_000032.5(ALAS2):c.9T>G (p.Thr3=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2777950	NM_000032.5(ALAS2):c.292G>A (p.Ala98Thr)	ALAS2, LOC108663984 (A122T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690874	NM_000032.5(ALAS2):c.568G>C (p.Asp190His)	ALAS2 (D153H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690873	NM_000032.5(ALAS2):c.37G>A (p.Val13Met)	ALAS2, LOC108663984 (V13M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2690872	NM_000032.5(ALAS2):c.1744_1746delinsA (p.Tyr582fs)	ALAS2 (Y545fs +2 more)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 2664715	NM_000032.5(ALAS2):c.-15-1829T>C	ALAS2, LOC108663984	Single nucleotide variant (intron variant +1 more)	X-linked sideroblastic anemia 1	GUncertain significance
Select item 2660691	NM_000032.5(ALAS2):c.-15-1732C>T	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2500873	NM_000032.5(ALAS2):c.-15-2188A>G	ALAS2, LOC108663984 +1 more	Single nucleotide variant (intron variant)	X-linked sideroblastic anemia 1	GLikely pathogenic
Select item 2443107	NM_000032.5(ALAS2):c.352G>A (p.Gly118Ser)	ALAS2, LOC108663984 (G118S)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2438968	NM_000032.5(ALAS2):c.679C>T (p.Arg227Cys)	ALAS2 (R190C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438967	NM_000032.5(ALAS2):c.314G>A (p.Ser105Asn)	ALAS2, LOC108663984 (S105N)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2438966	NM_000032.5(ALAS2):c.98T>C (p.Phe33Ser)	ALAS2, LOC108663984 (F33S +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2438965	NM_000032.5(ALAS2):c.680G>A (p.Arg227His)	ALAS2 (R190H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438964	NM_000032.5(ALAS2):c.1066G>A (p.Val356Met)	ALAS2 (V319M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438963	NM_000032.5(ALAS2):c.716T>C (p.Leu239Pro)	ALAS2 (L202P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438962	NM_000032.5(ALAS2):c.287T>C (p.Val96Ala)	ALAS2, LOC108663984 (V120A +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438961	NM_000032.5(ALAS2):c.1232G>A (p.Arg411His)	ALAS2 (R374H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2438960	NM_000032.5(ALAS2):c.1276A>G (p.Met426Val)	ALAS2 (M389V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2420608	NM_000032.5(ALAS2):c.225G>A (p.Ser75=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2200658	NM_000032.5(ALAS2):c.47G>A (p.Arg16Gln)	ALAS2, LOC108663984 (R16Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2178460	NM_000032.5(ALAS2):c.69C>T (p.Gly23=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2071111	NM_000032.5(ALAS2):c.305-8C>T	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1970123	NM_000032.5(ALAS2):c.46C>T (p.Arg16Trp)	ALAS2, LOC108663984 (R16W +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1969348	NM_000032.5(ALAS2):c.73G>A (p.Val25Met)	ALAS2, LOC108663984 (V49M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1961974	NM_000032.5(ALAS2):c.109C>T (p.Arg37Cys)	ALAS2, LOC108663984 (R61C +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1931266	NM_000032.5(ALAS2):c.181+19C>A	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1907350	NM_000032.5(ALAS2):c.239G>A (p.Gly80Glu)	ALAS2, LOC108663984 (G104E +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1634698	NM_000032.5(ALAS2):c.304+19C>T	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1323873	NM_000032.5(ALAS2):c.638+1G>A	ALAS2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1303064	NM_000032.5(ALAS2):c.-15-2186C>G	ALAS2, LOC108663984 +1 more	Single nucleotide variant (intron 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 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 1274114	NM_000032.5(ALAS2):c.1169-157C>T	ALAS2, LOC108511947	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262393	NM_000032.5(ALAS2):c.305-204A>G	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 1241604	NM_000032.5(ALAS2):c.182-286C>T	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217926	NM_000032.5(ALAS2):c.-16+87A>G	PAGE2B, ALAS2 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214960	NM_000032.5(ALAS2):c.1169-209A>T	ALAS2, LOC108511947	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1203476	NM_000032.5(ALAS2):c.181+52A>G	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1201264	NM_000032.5(ALAS2):c.182-77T>A	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191378	NM_000032.5(ALAS2):c.-15-1916A>C	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1186036	NM_000032.5(ALAS2):c.305-229T>G	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1179923	NM_000032.5(ALAS2):c.-15-2212A>G	ALAS2, LOC108663984 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 913559	NM_000032.5(ALAS2):c.-16+6A>G	ALAS2, PAGE2B +1 more	Single nucleotide variant (intron variant)	X-linked sideroblastic anemia 1	GUncertain significance
Select item 913558	NM_000032.5(ALAS2):c.110G>A (p.Arg37His)	ALAS2, LOC108663984 (R37H +1 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1	GUncertain significance
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 799463	NM_000032.5(ALAS2):c.305-8C>G	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	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 682557	NM_000032.5(ALAS2):c.-16+15C>T	ALAS2, LOC108663984 +1 more	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 434119	NM_000032.5(ALAS2):c.373A>G (p.Ile125Val)	LOC108663984, ALAS2 (I125V)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
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 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 368601	NM_000032.5(ALAS2):c.-34C>T	ALAS2, LOC108663984 +1 more	Single nucleotide variant (5 prime UTR variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 214101	NM_000032.5(ALAS2):c.-15-1731G>A	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 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 136358	NM_000032.5(ALAS2):c.282A>G (p.Glu94=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 136357	NM_000032.5(ALAS2):c.198G>A (p.Ala66=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign

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Items: 84