LOC129931498[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 292699	NM_006118.3(HAX1):c.-150A>T	HAX1, LOC129931498	Single nucleotide variant	Kostmann syndrome	GUncertain significance
Select item 292700	NM_006118.4(HAX1):c.-58T>G	HAX1, LOC129931498	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign
Select item 292701	NM_006118.4(HAX1):c.-53del	HAX1, LOC129931498	Deletion (5 prime UTR variant)	Severe congenital neutropenia	GLikely benign
Select item 1290913	NM_006118.4(HAX1):c.-53_-52del	HAX1, LOC129931498	Deletion (5 prime UTR variant)	not provided	GBenign
Select item 1260665	NM_006118.4(HAX1):c.-53_-52delinsT	HAX1, LOC129931498	Indel (5 prime UTR variant)	not provided	GBenign
Select item 292702	NM_006118.4(HAX1):c.-52G>T	HAX1, LOC129931498	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GBenign

ClinVar