"PreventionGenetics, part of Exact Sciences"[submitter] AND "HAX1"[gen - ClinVar - NCBI

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

Search results

Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1145111	NM_006118.4(HAX1):c.18C>T (p.Leu6=)	HAX1	Single nucleotide variant (synonymous variant)	Kostmann syndrome +1 more	GLikely benign
Select item 259919	NM_006118.4(HAX1):c.53+14C>T	HAX1	Single nucleotide variant (intron variant)	not provided +2 more	GBenign/Likely benign
Select item 2630122	NM_006118.4(HAX1):c.87AGATGA[1] (p.Glu31_Asp32del)	HAX1	Microsatellite (inframe_indel +2 more)	HAX1-related disorder	GUncertain significance
Select item 2632756	NM_006118.4(HAX1):c.109G>T (p.Glu37Ter)	HAX1 (E37*)	Single nucleotide variant (nonsense +1 more)	HAX1-related disorder	GLikely pathogenic
Select item 259917	NM_006118.4(HAX1):c.159T>C (p.Ser53=)	HAX1	Single nucleotide variant (synonymous variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 292704	NM_006118.4(HAX1):c.207A>T (p.Pro69=)	HAX1	Single nucleotide variant (synonymous variant)	HAX1-related disorder +3 more	GBenign/Likely benign
Select item 259918	NM_006118.4(HAX1):c.423T>C (p.Phe141=)	HAX1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 748927	NM_006118.4(HAX1):c.436G>A (p.Glu146Lys)	HAX1 (E98K +1 more)	Single nucleotide variant (missense variant)	Kostmann syndrome +1 more	GLikely benign
Select item 762554	NM_006118.4(HAX1):c.505-9C>T	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome +1 more	GLikely benign
Select item 792260	NM_006118.4(HAX1):c.505-4G>A	HAX1	Single nucleotide variant (intron variant)	HAX1-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 68243	NM_006118.4(HAX1):c.514G>A (p.Val172Ile)	HAX1 (V172I +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 1116848	NM_006118.4(HAX1):c.557-9C>A	HAX1	Single nucleotide variant (intron variant)	Kostmann syndrome +1 more	GLikely benign
Select item 3031411	NM_006118.4(HAX1):c.755-4T>C	HAX1	Single nucleotide variant (intron variant)	HAX1-related disorder	GLikely benign
Select item 259920	NM_006118.4(HAX1):c.795T>C (p.Phe265=)	HAX1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign