ClinVar for MedGen (Select 1638704) - ClinVar

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Items: 77

	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 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 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 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 1702971	NM_000032.5(ALAS2):c.1244C>T (p.Ala415Val)	ALAS2 (A378V +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 1299193	NM_000032.5(ALAS2):c.1007C>A (p.Ala336Asp)	ALAS2 (A299D +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1 +1 more	GUncertain significance
Select item 1206683	NM_000032.5(ALAS2):c.653G>A (p.Arg218His)	ALAS2 (R181H +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 1065640	NM_000032.5(ALAS2):c.488G>A (p.Arg163His)	ALAS2 (R126H +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 992940	NM_000032.5(ALAS2):c.1571A>G (p.His524Arg)	ALAS2 (H487R +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1	GLikely pathogenic
Select item 978811	NM_000032.5(ALAS2):c.1382T>A (p.Leu461His)	ALAS2 (L424H +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1	GLikely pathogenic
Select item 915149	NM_000032.5(ALAS2):c.1458C>T (p.Asn486=)	ALAS2	Single nucleotide variant (synonymous variant)	X-linked sideroblastic anemia 1	GUncertain significance
Select item 915148	NM_000032.5(ALAS2):c.1500T>C (p.Tyr500=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 915147	NM_000032.5(ALAS2):c.1532G>A (p.Arg511Gln)	ALAS2 (R511Q +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1 +2 more	GUncertain significance
Select item 913904	NM_000032.5(ALAS2):c.1638C>G (p.Pro546=)	ALAS2	Single nucleotide variant (synonymous variant)	X-linked sideroblastic anemia 1	GUncertain significance
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 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 440879	NM_000032.5(ALAS2):c.508C>A (p.Arg170Ser)	ALAS2 (R170S +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1	GPathogenic
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 369419	NM_017875.4(SLC25A38):c.*809C>T	SLC25A38	Single nucleotide variant (3 prime UTR variant)	Refractory anemia with ringed sideroblasts (clinical) +1 more	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 368600	NM_000032.5(ALAS2):c.416-11T>C	ALAS2	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 368599	NM_000032.5(ALAS2):c.652C>T (p.Arg218Cys)	ALAS2 (R218C +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1 +1 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 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 368596	NM_000032.5(ALAS2):c.1062C>G (p.Thr354=)	ALAS2	Single nucleotide variant (synonymous variant)	X-linked sideroblastic anemia 1 +1 more	GBenign
Select item 368595	NM_000032.5(ALAS2):c.1107C>T (p.Gly369=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 368594	NM_000032.5(ALAS2):c.1321G>A (p.Glu441Lys)	ALAS2 (E441K +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1 +1 more	GBenign/Likely benign
Select item 368593	NM_000032.5(ALAS2):c.1335C>T (p.Ala445=)	ALAS2	Single nucleotide variant (synonymous variant)	X-linked sideroblastic anemia 1	GUncertain significance
Select item 368592	NM_000032.5(ALAS2):c.1567C>T (p.His523Tyr)	ALAS2 (H523Y +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 368591	NM_000032.5(ALAS2):c.1626G>A (p.Ala542=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 368590	NM_000032.5(ALAS2):c.*56A>C	ALAS2	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 345160	NM_017875.4(SLC25A38):c.*642del	SLC25A38	Deletion (3 prime UTR variant)	Refractory anemia with ringed sideroblasts (clinical) +1 more	GBenign
Select item 345158	NM_017875.4(SLC25A38):c.*490G>A	SLC25A38	Single nucleotide variant (3 prime UTR variant)	X-linked sideroblastic anemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 345157	NM_017875.4(SLC25A38):c.*472G>T	SLC25A38	Single nucleotide variant (3 prime UTR variant)	X-linked sideroblastic anemia 1 +2 more	GBenign/Likely benign
Select item 345152	NM_017875.4(SLC25A38):c.*304C>T	SLC25A38	Single nucleotide variant (3 prime UTR variant)	X-linked sideroblastic anemia 1 +1 more	GConflicting classifications of pathogenicity
Select item 345149	NM_017875.4(SLC25A38):c.462G>A (p.Gly154=)	SLC25A38	Single nucleotide variant (synonymous variant)	Sideroblastic anemia 2 +2 more	GConflicting classifications of pathogenicity
Select item 345148	NM_017875.4(SLC25A38):c.446C>T (p.Thr149Met)	SLC25A38 (T149M)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1 +1 more	GUncertain significance
Select item 345147	NM_017875.4(SLC25A38):c.382A>G (p.Met128Val)	SLC25A38 (M128V)	Single nucleotide variant (missense variant)	SLC25A38-related disorder +4 more	GBenign/Likely benign
Select item 345145	NM_017875.4(SLC25A38):c.239C>G (p.Thr80Arg)	SLC25A38 (T80R)	Single nucleotide variant (missense variant)	Sideroblastic anemia 2 +4 more	GConflicting classifications of pathogenicity
Select item 345144	NM_017875.4(SLC25A38):c.161G>A (p.Arg54His)	SLC25A38 (R54H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GUncertain significance
Select item 345143	NM_017875.4(SLC25A38):c.12C>T (p.Asn4=)	SLC25A38, LOC129936510	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 345142	NM_017875.4(SLC25A38):c.-69C>T	SLC25A38	Single nucleotide variant (5 prime UTR variant)	Sideroblastic anemia 2 +1 more	GUncertain significance
Select item 345139	NM_017875.4(SLC25A38):c.-219T>C	SLC25A38	Single nucleotide variant (5 prime UTR variant)	X-linked sideroblastic anemia 1 +1 more	GUncertain significance
Select item 345138	NM_017875.4(SLC25A38):c.-225G>A	SLC25A38	Single nucleotide variant (5 prime UTR variant)	X-linked sideroblastic anemia 1 +1 more	GUncertain significance
Select item 345137	NM_017875.4(SLC25A38):c.-227G>A	SLC25A38	Single nucleotide variant (5 prime UTR variant)	X-linked sideroblastic anemia 1 +1 more	GUncertain significance
Select item 345136	NM_017875.4(SLC25A38):c.-237G>A	SLC25A38	Single nucleotide variant (5 prime UTR variant)	Sideroblastic anemia 2 +1 more	GUncertain significance
Select item 345135	NM_017875.4(SLC25A38):c.-292G>A	SLC25A38	Single nucleotide variant (5 prime UTR variant)	X-linked sideroblastic anemia 1 +2 more	GConflicting classifications of pathogenicity
Select item 345134	NM_017875.4(SLC25A38):c.-303A>C	SLC25A38	Single nucleotide variant (5 prime UTR variant)	X-linked sideroblastic anemia 1 +2 more	GBenign/Likely benign
Select item 345133	NM_017875.4(SLC25A38):c.-325G>C	SLC25A38	Single nucleotide variant (5 prime UTR variant)	Sideroblastic anemia 2 +1 more	GUncertain significance
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 214091	NM_000032.5(ALAS2):c.1718C>T (p.Ser573Phe)	ALAS2 (S573F +2 more)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 214090	NM_000032.5(ALAS2):c.1676G>A (p.Arg559His)	ALAS2 (R559H +2 more)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 214089	NM_000032.5(ALAS2):c.1560C>A (p.Pro520=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided +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)	X-linked sideroblastic anemia 1 +2 more	GConflicting classifications of pathogenicity
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 136358	NM_000032.5(ALAS2):c.282A>G (p.Glu94=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
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 136353	NM_000032.5(ALAS2):c.1092G>A (p.Leu364=)	ALAS2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 136351	NM_000032.5(ALAS2):c.824-15C>T	ALAS2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 40978	NM_000032.5(ALAS2):c.1757A>T (p.Tyr586Phe)	ALAS2 (Y586F +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 10484	NM_000032.5(ALAS2):c.595T>C (p.Tyr199His)	ALAS2 (Y199H +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1	GPathogenic
Select item 10481	NM_000032.5(ALAS2):c.1570C>G (p.His524Asp)	ALAS2 (H524D +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1	GPathogenic
Select item 10480	NM_000032.4(ALAS2):c.-258C>G	ALAS2, PAGE2B	Single nucleotide variant	not provided	GBenign/Likely benign
Select item 10479	NM_000032.5(ALAS2):c.475G>A (p.Asp159Asn)	ALAS2 (D159N +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1	GPathogenic
Select item 10478	NM_000032.5(ALAS2):c.475G>T (p.Asp159Tyr)	ALAS2 (D159Y +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1	GPathogenic
Select item 10477	NM_000032.5(ALAS2):c.1184G>A (p.Cys395Tyr)	ALAS2 (C395Y +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1	GPathogenic
Select item 10476	NM_000032.5(ALAS2):c.1702A>G (p.Ser568Gly)	ALAS2 (S568G +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1	GPathogenic
Select item 10475	NM_000032.5(ALAS2):c.1231C>T (p.Arg411Cys)	ALAS2 (R411C +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 10474	NM_000032.5(ALAS2):c.569A>T (p.Asp190Val)	ALAS2 (D190V +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1	GPathogenic
Select item 10473	NM_000032.5(ALAS2):c.514G>A (p.Ala172Thr)	ALAS2 (A172T +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1	GLikely pathogenic
Select item 10471	NM_000032.5(ALAS2):c.871G>A (p.Gly291Ser)	ALAS2 (G291S +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1	GPathogenic
Select item 10470	NM_000032.5(ALAS2):c.495C>A (p.Phe165Leu)	ALAS2 (F165L +2 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 10469	NM_000032.5(ALAS2):c.1163C>G (p.Thr388Ser)	ALAS2 (T388S +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1	GPathogenic
Select item 10468	NM_000032.5(ALAS2):c.1427T>A (p.Ile476Asn)	ALAS2 (I439N +2 more)	Single nucleotide variant (missense variant)	X-linked sideroblastic anemia 1	GPathogenic

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Items: 77