"Center for Genomics, Ann and Robert H. Lurie Children's Hospital of C - ClinVar

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 579564	NM_006118.4(HAX1):c.46C>T (p.Pro16Ser)	HAX1 (P16S)	Single nucleotide variant (missense variant)	Kostmann syndrome	GUncertain significance
Select item 2500041	NM_006118.4(HAX1):c.171C>T (p.Pro57=)	HAX1	Single nucleotide variant (synonymous variant +1 more)	Kostmann syndrome	GLikely benign
Select item 992539	NM_006118.4(HAX1):c.221G>A (p.Arg74His)	HAX1 (R26H +1 more)	Single nucleotide variant (missense variant)	Kostmann syndrome	GUncertain significance

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