"PreventionGenetics, part of Exact Sciences"[submitter] AND "HPSE2"[ge - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 782770	NM_021828.5(HPSE2):c.1099-9T>C	HPSE2	Single nucleotide variant (intron variant)	Urofacial syndrome type 1 +2 more	GLikely benign
Select item 3029120	NM_021828.5(HPSE2):c.1026G>A (p.Val342=)	HPSE2	Single nucleotide variant (synonymous variant)	HPSE2-related disorder	GLikely benign
Select item 3029833	NM_021828.5(HPSE2):c.957-3C>T	HPSE2	Single nucleotide variant (intron variant)	HPSE2-related disorder	GLikely benign
Select item 779261	NM_021828.5(HPSE2):c.895G>A (p.Ala299Thr)	HPSE2 (A241T +2 more)	Single nucleotide variant (missense variant)	HPSE2-related disorder +1 more	GLikely benign
Select item 726975	NM_021828.5(HPSE2):c.727A>T (p.Ser243Cys)	HPSE2 (S243C)	Single nucleotide variant (missense variant +1 more)	HPSE2-related disorder +1 more	GLikely benign
Select item 3061264	NM_021828.5(HPSE2):c.666A>G (p.Ile222Met)	HPSE2 (I222M)	Single nucleotide variant (missense variant +1 more)	HPSE2-related disorder	GUncertain significance
Select item 716933	NM_021828.5(HPSE2):c.573G>A (p.Glu191=)	HPSE2	Single nucleotide variant (synonymous variant +1 more)	Urofacial syndrome type 1 +2 more	GBenign/Likely benign
Select item 784210	NM_021828.5(HPSE2):c.290+7C>T	HPSE2	Single nucleotide variant (intron variant)	Urofacial syndrome type 1 +2 more	GBenign/Likely benign
Select item 90	NM_021828.5(HPSE2):c.57dup (p.Ala20fs)	HPSE2 (A20fs)	Duplication (frameshift variant)	Urofacial syndrome type 1 +1 more	GPathogenic