"PreventionGenetics, part of Exact Sciences"[submitter] AND "ALAS2"[ge - ClinVar - NCBI

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

Search results

Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 368591	NM_000032.5(ALAS2):c.1626G>A (p.Ala542=)	ALAS2	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 254728	NM_000032.5(ALAS2):c.1563C>T (p.Ser521=)	ALAS2	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
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 1627684	NM_000032.5(ALAS2):c.1401T>C (p.Pro467=)	ALAS2	Single nucleotide variant (synonymous variant)	ALAS2-related disorder +1 more	GLikely benign
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 2636048	NM_000032.5(ALAS2):c.844G>A (p.Ala282Thr)	ALAS2 (A245T +2 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 509557	NM_000032.5(ALAS2):c.823+5G>A	ALAS2	Single nucleotide variant (intron variant)	ALAS2-related disorder +2 more	GBenign/Likely benign
Select item 2420608	NM_000032.5(ALAS2):c.225G>A (p.Ser75=)	ALAS2, LOC108663984	Single nucleotide variant (synonymous variant)	ALAS2-related disorder +1 more	GLikely benign
Select item 214093	NM_000032.5(ALAS2):c.190T>C (p.Ser64Pro)	ALAS2, LOC108663984 (S64P +1 more)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 2660691	NM_000032.5(ALAS2):c.-15-1732C>T	ALAS2, LOC108663984	Single nucleotide variant (intron variant)	ALAS2-related disorder +1 more	GLikely benign
Select item 214092	NM_000032.5(ALAS2):c.-15-1790G>A	ALAS2, LOC108663984 (M1I)	Single nucleotide variant (missense variant +2 more)	ALAS2-related disorder +1 more	GBenign
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