CN239155[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 323478	NM_000342.4(SLC4A1):c.1606_1608dup	SLC4A1	Duplication (3 prime UTR variant)	Hemolytic anemia +2 more	GUncertain significance
Select item 323477	NM_000342.4(SLC4A1):c.*1608dup	SLC4A1	Duplication (3 prime UTR variant)	Hemolytic anemia +2 more	GUncertain significance
Select item 323479	NM_000342.4(SLC4A1):c.*1608del	SLC4A1	Deletion (3 prime UTR variant)	Hemolytic anemia +2 more	GUncertain significance
Select item 323483	NM_000342.4(SLC4A1):c.*1273del	SLC4A1	Deletion (3 prime UTR variant)	Hemolytic anemia +2 more	GUncertain significance
Select item 323488	NM_000342.4(SLC4A1):c.*1103del	SLC4A1	Deletion (3 prime UTR variant)	Hemolytic anemia +2 more	GLikely benign
Select item 323493	NM_000342.4(SLC4A1):c.*794del	SLC4A1	Deletion (3 prime UTR variant)	Distal Renal Tubular Acidosis, Dominant +2 more	GLikely benign
Select item 323504	NM_000342.4(SLC4A1):c.2210C>T (p.Ala737Val)	SLC4A1 (A737V)	Single nucleotide variant (missense variant)	Spherocytosis, Dominant +3 more	GConflicting classifications of pathogenicity
Select item 323507	NM_000342.4(SLC4A1):c.1637A>G (p.Asp546Gly)	SLC4A1 (D546G)	Single nucleotide variant (missense variant)	Hemolytic anemia +2 more	GUncertain significance
Select item 323509	NM_000342.4(SLC4A1):c.1431+13T>G	SLC4A1	Single nucleotide variant (intron variant)	Hemolytic anemia +2 more	GUncertain significance

ClinVar