C5235141[trait identifier] AND "Fulgent Genetics, Fulgent Genetics"[su - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 651979	NM_006118.4(HAX1):c.11T>C (p.Phe4Ser)	HAX1 (F4S)	Single nucleotide variant (missense variant)	Kostmann syndrome +1 more	GUncertain significance
Select item 419887	NM_006118.4(HAX1):c.91del (p.Glu31fs)	HAX1 (E31fs)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 4656	NM_006118.4(HAX1):c.125dup (p.Ser43fs)	HAX1 (S43fs)	Duplication (frameshift variant +1 more)	Kostmann syndrome +1 more	GPathogenic
Select item 658294	NM_006118.4(HAX1):c.122G>T (p.Gly41Val)	HAX1 (G41V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 659562	NM_006118.4(HAX1):c.407del (p.His136fs)	HAX1 (H136fs +1 more)	Deletion (frameshift variant)	Kostmann syndrome	GPathogenic/Likely pathogenic
Select item 944776	NM_006118.4(HAX1):c.663+1G>A	HAX1	Single nucleotide variant (splice donor variant)	Kostmann syndrome	GLikely pathogenic
Select item 543083	NM_006118.4(HAX1):c.829C>T (p.Arg277Trp)	HAX1 (R277W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance

ClinVar