"Fulgent Genetics, Fulgent Genetics"[submitter] AND "HPSE2"[gene] - ClinVar - NCBI

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Items: 14

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1040032	NM_021828.5(HPSE2):c.1696G>A (p.Gly566Ser)	HPSE2 (G508S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 729497	NM_021828.5(HPSE2):c.1476C>T (p.Tyr492=)	HPSE2	Single nucleotide variant (synonymous variant)	Urofacial syndrome type 1 +1 more	GBenign/Likely benign
Select item 84	NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs)	HPSE2 (N377fs +2 more)	Deletion (frameshift variant)	Urofacial syndrome type 1 +1 more	GPathogenic/Likely pathogenic
Select item 728157	NM_021828.5(HPSE2):c.1194T>C (p.Ala398=)	HPSE2	Single nucleotide variant (synonymous variant)	Urofacial syndrome type 1 +1 more	GBenign/Likely benign
Select item 1616155	NM_021828.5(HPSE2):c.1154C>T (p.Thr385Ile)	HPSE2 (T273I +2 more)	Single nucleotide variant (missense variant)	Urofacial syndrome type 1 +1 more	GBenign/Likely benign
Select item 1691127	NM_021828.5(HPSE2):c.1099-1G>A	HPSE2	Single nucleotide variant (splice acceptor variant)	Urofacial syndrome type 1 +1 more	GPathogenic
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 1276944	NM_021828.5(HPSE2):c.957-28_957-19dup	HPSE2	Duplication (intron variant)	Urofacial syndrome type 1 +1 more	GBenign/Likely benign
Select item 1507141	NM_021828.5(HPSE2):c.815G>A (p.Arg272Gln)	HPSE2 (R272Q +2 more)	Single nucleotide variant (missense variant)	Urofacial syndrome type 1 +2 more	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 1691124	NM_021828.5(HPSE2):c.429T>A (p.Tyr143Ter)	HPSE2 (Y143*)	Single nucleotide variant (nonsense)	Urofacial syndrome type 1	GPathogenic
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 730903	NM_021828.5(HPSE2):c.273C>A (p.Gly91=)	HPSE2	Single nucleotide variant (synonymous variant)	Urofacial syndrome type 1 +1 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