"GeneDx"[submitter] AND "HPSE2"[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58777	GRCh38/hg38 10q23.33-24.32(chr10:93181201-101356779)x1	LOC130004555, LOC130004556 +375 more	Copy number loss	See cases	GPathogenic
Select item 1237632	NM_021828.5(HPSE2):c.*69C>A	HPSE2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1228841	NM_021828.5(HPSE2):c.*17C>T	HPSE2	Single nucleotide variant (3 prime UTR variant)	Urofacial syndrome type 1 +1 more	GBenign
Select item 802626	NM_021828.5(HPSE2):c.1736A>T (p.Tyr579Phe)	HPSE2 (Y579F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1227966	NM_021828.5(HPSE2):c.1614-23C>T	HPSE2	Single nucleotide variant (intron variant)	Urofacial syndrome type 1 +1 more	GBenign
Select item 1259787	NM_021828.5(HPSE2):c.1614-188del	HPSE2	Deletion (intron variant)	not provided	GBenign
Select item 1223507	NM_021828.5(HPSE2):c.1614-1770A>G	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1241987	NM_021828.5(HPSE2):c.1614-2100C>T	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1235932	NM_021828.5(HPSE2):c.1613+284A>C	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183050	NM_021828.5(HPSE2):c.1613+198G>A	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226492	NM_021828.5(HPSE2):c.1613+48G>C	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 84	NM_021828.5(HPSE2):c.1465_1466del (p.Asn489fs)	HPSE2 (N377fs +2 more)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1288674	NM_021828.5(HPSE2):c.1321-96GT[10]	HPSE2	Microsatellite (intron variant)	not provided	GBenign
Select item 1249247	NM_021828.5(HPSE2):c.1321-96GT[12]	HPSE2	Microsatellite (intron variant)	not provided	GBenign
Select item 1225744	NM_021828.5(HPSE2):c.1321-99C>A	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262411	NM_021828.5(HPSE2):c.1321-233T>G	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276581	NM_021828.5(HPSE2):c.1320+299G>A	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227582	NM_021828.5(HPSE2):c.1320+179CA[13]	HPSE2	Microsatellite (intron variant)	not provided	GBenign
Select item 1273855	NM_021828.5(HPSE2):c.1320+156G>A	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226141	NM_021828.5(HPSE2):c.1205+133A>G	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1226305	NM_021828.5(HPSE2):c.1098+189A>G	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1265783	NM_021828.5(HPSE2):c.1005-48A>G	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1182064	NM_021828.5(HPSE2):c.1005-236C>T	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247419	NM_021828.5(HPSE2):c.1005-259A>G	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1276944	NM_021828.5(HPSE2):c.957-28_957-19dup	HPSE2	Duplication (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1220832	NM_021828.5(HPSE2):c.956+109A>G	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287352	NM_021828.5(HPSE2):c.956+75ATTT[7]	HPSE2	Microsatellite (intron variant)	not provided	GBenign
Select item 1271730	NM_021828.5(HPSE2):c.785-99del	HPSE2	Deletion (intron variant)	not provided	GBenign
Select item 1282817	NM_021828.5(HPSE2):c.784+189del	HPSE2	Deletion (intron variant)	not provided	GBenign
Select item 1178296	NM_021828.5(HPSE2):c.611-123A>C	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225780	NM_021828.5(HPSE2):c.611-235C>T	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1270167	NM_021828.5(HPSE2):c.611-275G>A	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 144990	GRCh38/hg38 10q24.2(chr10:98907968-98937040)x1	HPSE2, MIR6507	Copy number loss	See cases	GBenign
Select item 1268968	NM_021828.5(HPSE2):c.448+92GT[22]	HPSE2	Microsatellite (intron variant)	not provided	GBenign
Select item 1263045	NM_021828.5(HPSE2):c.448+92GT[23]	HPSE2	Microsatellite (intron variant)	not provided	GBenign
Select item 1259873	NM_021828.5(HPSE2):c.448+92GT[18]	HPSE2	Microsatellite (intron variant)	not provided	GBenign
Select item 1252104	NM_021828.5(HPSE2):c.448+92GT[15]	HPSE2	Microsatellite (intron variant)	not provided	GBenign
Select item 1250311	NM_021828.5(HPSE2):c.448+92GT[20]	HPSE2	Microsatellite (intron variant)	not provided	GBenign
Select item 1242080	NM_021828.5(HPSE2):c.448+92GT[19]	HPSE2	Microsatellite (intron variant)	not provided	GBenign
Select item 1283224	NM_021828.5(HPSE2):c.448+93T>C	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231950	NM_021828.5(HPSE2):c.291-45G>A	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1290080	NM_021828.5(HPSE2):c.291-243C>G	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280928	NC_000010.11:g.99235967CTCG[4]	HPSE2	Microsatellite	not provided	GBenign
Select item 1272633	NC_000010.11:g.99236011dup	HPSE2	Duplication	not provided	GBenign
Select item 1264845	NC_000010.11:g.99236033dup	HPSE2	Duplication	not provided	GBenign

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Items: 45