ClinVar for Gene (Select 212) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 399

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
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 condition	GLikely benign
Select item 3027162	NM_000032.5(ALAS2):c.463G>C (p.Glu155Gln)	ALAS2 (E118Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 3005240	NM_000032.5(ALAS2):c.1074G>A (p.Glu358=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001582	NM_000032.5(ALAS2):c.982G>C (p.Glu328Gln)	ALAS2 (E315Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2991330	NM_000032.5(ALAS2):c.1546C>T (p.Leu516=)	ALAS2	Single nucleotide variant (synonymous 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 2982141	NM_000032.5(ALAS2):c.1000G>C (p.Asp334His)	ALAS2 (D297H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975818	NM_000032.5(ALAS2):c.810C>T (p.Ala270=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2969270	NM_000032.5(ALAS2):c.1465C>G (p.Leu489Val)	ALAS2 (L489V +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966670	NM_000032.5(ALAS2):c.824-17T>C	ALAS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2919195	NM_000032.5(ALAS2):c.502G>A (p.Val168Met)	ALAS2 (V155M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2918526	NM_000032.5(ALAS2):c.1413C>T (p.Cys471=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898399	NM_000032.5(ALAS2):c.1257T>C (p.Phe419=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2893480	NM_000032.5(ALAS2):c.351C>T (p.Ser117=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous 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 2873637	NM_000032.5(ALAS2):c.1678C>T (p.Arg560Cys)	ALAS2 (R523C +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2871970	NM_000032.5(ALAS2):c.1169-15C>A	ALAS2, LOC108511947	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867811	NM_000032.5(ALAS2):c.1622C>T (p.Thr541Ile)	ALAS2 (T528I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2843852	NM_000032.5(ALAS2):c.305-16T>A	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2838333	NM_000032.5(ALAS2):c.706C>A (p.His236Asn)	ALAS2 (H199N +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838266	NM_000032.5(ALAS2):c.639-7T>C	ALAS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821634	NM_000032.5(ALAS2):c.1084G>A (p.Val362Ile)	ALAS2 (V325I +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2810983	NM_000032.5(ALAS2):c.1152C>A (p.Ile384=)	ALAS2	Single nucleotide variant (synonymous 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 2802059	NM_000032.5(ALAS2):c.714G>T (p.Glu238Asp)	ALAS2 (E201D +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2799845	NM_000032.5(ALAS2):c.182-15C>G	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781161	NM_000032.5(ALAS2):c.538C>T (p.His180Tyr)	ALAS2 (H143Y +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2750736	NM_000032.5(ALAS2):c.1395C>G (p.Gly465=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2737237	NM_000032.5(ALAS2):c.1373G>A (p.Arg458His)	ALAS2 (R445H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2737236	NM_000032.5(ALAS2):c.1499A>G (p.Tyr500Cys)	ALAS2 (Y463C +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2737235	NM_000032.5(ALAS2):c.1685T>C (p.Val562Ala)	ALAS2 (V562A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2720831	NM_000032.5(ALAS2):c.669T>C (p.Ala223=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2720302	NM_000032.5(ALAS2):c.1569C>T (p.His523=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719843	NM_000032.5(ALAS2):c.1435C>T (p.Arg479Trp)	ALAS2 (R442W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2718989	NM_000032.5(ALAS2):c.1020C>T (p.Leu340=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2713683	NM_000032.5(ALAS2):c.1601-6del	ALAS2	Deletion (intron variant)	not provided	GLikely benign
Select item 2697006	NM_000032.5(ALAS2):c.425T>C (p.Val142Ala)	ALAS2 (V129A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2696023	NM_000032.5(ALAS2):c.1441G>A (p.Gly481Ser)	ALAS2 (G481S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2691905	NM_000032.5(ALAS2):c.1584del (p.Met528fs)	ALAS2 (M491fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2691328	NM_000032.5(ALAS2):c.415+16T>A	ALAS2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
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 2690508	NM_000032.5(ALAS2):c.1355G>T (p.Arg452Leu)	ALAS2 (R415L +2 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2683635	NM_000032.5(ALAS2):c.1646_1664dup (p.Cys555Ter)	ALAS2 (C518* +2 more)	Duplication (nonsense)	not provided	GLikely pathogenic
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 +1 more	GLikely benign
Select item 2660690	NM_000032.5(ALAS2):c.1211G>A (p.Arg404His)	ALAS2 (R367H +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2636048	NM_000032.5(ALAS2):c.844G>A (p.Ala282Thr)	ALAS2 (A245T +2 more)	Single nucleotide variant (missense variant)	ALAS2-related condition +1 more	GUncertain significance
Select item 2634710	NM_000032.5(ALAS2):c.1695G>C (p.Glu565Asp)	ALAS2 (E528D +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2609239	NM_000032.5(ALAS2):c.815T>A (p.Ile272Asn)	ALAS2 (I272N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607684	NM_000032.5(ALAS2):c.1696C>T (p.Leu566Phe)	ALAS2 (L566F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2506546	GRCh37/hg19 Xp22.33-q28(chrX:200855-155240074)	BMX, CXorf38 +821 more	Copy number gain	Klinefelter syndrome	GPathogenic
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 2425562	NC_000023.10:g.(?_53222149)_(55057617_?)del	ALAS2, APEX2 +19 more	Deletion	Congenital muscular hypertrophy-cerebral syndrome	GPathogenic
Select item 2420608	NM_000032.5(ALAS2):c.225G>A (p.Ser75=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2400538	NM_000032.5(ALAS2):c.886G>A (p.Gly296Arg)	ALAS2 (G283R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2295347	NM_000032.5(ALAS2):c.1372C>T (p.Arg458Cys)	ALAS2 (R445C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2289564	NM_000032.5(ALAS2):c.1124G>A (p.Arg375His)	ALAS2 (R375H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256239	NM_000032.5(ALAS2):c.557T>C (p.Val186Ala)	ALAS2 (V149A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2168513	NM_000032.5(ALAS2):c.1021G>A (p.Glu341Lys)	ALAS2 (E304K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2159079	NM_000032.5(ALAS2):c.1274C>T (p.Pro425Leu)	ALAS2 (P425L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2138581	NM_000032.5(ALAS2):c.1354C>A (p.Arg452Ser)	ALAS2 (R439S +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2130287	NM_000032.5(ALAS2):c.901G>C (p.Val301Leu)	ALAS2 (V264L +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2110519	NM_000032.5(ALAS2):c.841G>C (p.Asp281His)	ALAS2 (D281H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2093850	NM_000032.5(ALAS2):c.451G>A (p.Asp151Asn)	ALAS2 (D138N +2 more)	Single nucleotide variant (missense 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 2067814	NM_000032.5(ALAS2):c.1350C>T (p.His450=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2030879	NM_000032.5(ALAS2):c.1438-16T>C	ALAS2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2029928	NM_000032.5(ALAS2):c.645C>A (p.Thr215=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2024108	NM_000032.5(ALAS2):c.753A>G (p.Ser251=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2015970	NM_000032.5(ALAS2):c.496A>C (p.Lys166Gln)	ALAS2 (K129Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1986194	NM_000032.5(ALAS2):c.1621A>T (p.Thr541Ser)	ALAS2 (T541S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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

<< First< Prev

Page of 4