Related gene-specific medical variations for Gene (Select 389860) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 1303064	NM_000032.5(ALAS2):c.-15-2186C>G	ALAS2, LOC108663984 +1 more	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 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 682557	NM_000032.5(ALAS2):c.-16+15C>T	ALAS2, LOC108663984 +1 more	Single nucleotide variant (intron variant)	not provided	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

ClinVar