18374[HGNC] - ClinVar - NCBI

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	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 57116	GRCh38/hg38 10q23.33-25.3(chr10:95112607-116776637)x3	LOC130004500, LOC130004501 +821 more	Copy number gain	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 2038275	NM_021828.5(HPSE2):c.1769G>A (p.Arg590His)	HPSE2 (R478H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2172514	NM_021828.5(HPSE2):c.1768C>A (p.Arg590Ser)	HPSE2 (R478S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3106882	NM_021828.5(HPSE2):c.1763C>A (p.Ala588Asp)	HPSE2 (A530D +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1991219	NM_021828.5(HPSE2):c.1761G>A (p.Leu587=)	HPSE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2520069	NM_021828.5(HPSE2):c.1754A>G (p.Asn585Ser)	HPSE2 (N527S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2220681	NM_021828.5(HPSE2):c.1750G>A (p.Val584Ile)	HPSE2 (V472I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 2395364	NM_021828.5(HPSE2):c.1707G>C (p.Leu569Phe)	HPSE2 (L457F +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 738976	NM_021828.5(HPSE2):c.1704A>G (p.Thr568=)	HPSE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 1040032	NM_021828.5(HPSE2):c.1696G>A (p.Gly566Ser)	HPSE2 (G508S +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2001072	NM_021828.5(HPSE2):c.1689T>C (p.Leu563=)	HPSE2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2841396	NM_021828.5(HPSE2):c.1664T>G (p.Leu555Arg)	HPSE2 (L497R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3284753	NM_021828.5(HPSE2):c.1658G>A (p.Gly553Glu)	HPSE2 (G495E +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 60719	NM_021828.5(HPSE2):c.1628A>T (p.Asn543Ile)	HPSE2 (N543I +2 more)	Single nucleotide variant (missense variant +1 more)	Urofacial syndrome type 1	GPathogenic
Select item 715582	NM_021828.5(HPSE2):c.1618G>C (p.Val540Leu)	HPSE2 (V428L +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1996621	NM_021828.5(HPSE2):c.1614G>T (p.Lys538Asn)	HPSE2 (K480N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2422092	NM_021828.5(HPSE2):c.1613+7G>A	HPSE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2022227	NM_021828.5(HPSE2):c.1584G>A (p.Gln528=)	HPSE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3284756	NM_021828.5(HPSE2):c.1522A>G (p.Arg508Gly)	HPSE2 (R396G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2148269	NM_021828.5(HPSE2):c.1517G>A (p.Arg506Gln)	HPSE2 (R506Q +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 83	NM_021828.5(HPSE2):c.1516C>T (p.Arg506Ter)	HPSE2 (R506* +2 more)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2900106	NM_021828.5(HPSE2):c.1482T>C (p.Arg494=)	HPSE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3106881	NM_021828.5(HPSE2):c.1480C>T (p.Arg494Cys)	HPSE2 (R494C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 729497	NM_021828.5(HPSE2):c.1476C>T (p.Tyr492=)	HPSE2	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
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 2003880	NM_021828.5(HPSE2):c.1424G>C (p.Arg475Pro)	HPSE2 (R475P +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 88	NM_021828.5(HPSE2):c.1414C>T (p.Arg472Ter)	HPSE2 (R472* +2 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3284757	NM_021828.5(HPSE2):c.1403C>T (p.Pro468Leu)	HPSE2 (P356L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 591634	NM_021828.5(HPSE2):c.1370T>C (p.Leu457Ser)	HPSE2 (L457S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922857	NM_021828.5(HPSE2):c.1356C>G (p.Ile452Met)	HPSE2 (I340M +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922513	NM_021828.5(HPSE2):c.1356C>T (p.Ile452=)	HPSE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3344487	NM_021828.5(HPSE2):c.1351C>T (p.Leu451=)	HPSE2	Single nucleotide variant (synonymous variant)	HPSE2-related disorder	GLikely benign
Select item 3106880	NM_021828.5(HPSE2):c.1349G>A (p.Arg450His)	HPSE2 (R392H +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1617798	NM_021828.5(HPSE2):c.1321-11A>G	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1904067	NM_021828.5(HPSE2):c.1321-13C>T	HPSE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1921733	NM_021828.5(HPSE2):c.1321-15C>G	HPSE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1897109	NM_021828.5(HPSE2):c.1321-18C>T	HPSE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 2261251	NM_021828.5(HPSE2):c.1317A>T (p.Leu439Phe)	HPSE2 (L381F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2218635	NM_021828.5(HPSE2):c.1315T>A (p.Leu439Ile)	HPSE2 (L327I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1906311	NM_021828.5(HPSE2):c.1217C>G (p.Thr406Ser)	HPSE2 (T348S +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2705024	NM_021828.5(HPSE2):c.1212G>A (p.Leu404=)	HPSE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1226141	NM_021828.5(HPSE2):c.1205+133A>G	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
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 722894	NM_021828.5(HPSE2):c.1182C>T (p.Ser394=)	HPSE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2355738	NM_021828.5(HPSE2):c.1171A>G (p.Asn391Asp)	HPSE2 (N279D +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592719	NM_021828.5(HPSE2):c.1168A>G (p.Thr390Ala)	HPSE2 (T390A +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3284752	NM_021828.5(HPSE2):c.1151C>T (p.Thr384Ile)	HPSE2 (T272I +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3106879	NM_021828.5(HPSE2):c.1147G>T (p.Val383Leu)	HPSE2 (V325L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2299493	NM_021828.5(HPSE2):c.1141G>A (p.Gly381Ser)	HPSE2 (G381S +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1691127	NM_021828.5(HPSE2):c.1099-1G>A	HPSE2	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1344620	NM_021828.5(HPSE2):c.1099-2A>G	HPSE2	Single nucleotide variant (splice acceptor variant)	Congenital anomaly of kidney and urinary tract	GPathogenic
Select item 782770	NM_021828.5(HPSE2):c.1099-9T>C	HPSE2	Single nucleotide variant (intron variant)	Urofacial syndrome type 1 +1 more	GLikely benign
Select item 1226305	NM_021828.5(HPSE2):c.1098+189A>G	HPSE2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 598662	NM_021828.5(HPSE2):c.1055G>A (p.Arg352His)	HPSE2 (R352H +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2459886	NM_021828.5(HPSE2):c.1054C>T (p.Arg352Cys)	HPSE2 (R240C +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3348686	NM_021828.5(HPSE2):c.1005-7A>C	HPSE2	Single nucleotide variant (intron variant)	HPSE2-related disorder	GLikely benign
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 1677856	NM_021828.5(HPSE2):c.1004+1G>A	HPSE2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2286532	NM_021828.5(HPSE2):c.997T>C (p.Trp333Arg)	HPSE2 (W221R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2536422	NM_021828.5(HPSE2):c.988G>A (p.Ala330Thr)	HPSE2 (A330T +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3029833	NM_021828.5(HPSE2):c.957-3C>T	HPSE2	Single nucleotide variant (intron variant)	HPSE2-related disorder	GLikely benign
Select item 1991766	NM_021828.5(HPSE2):c.957-12T>G	HPSE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1899404	NM_021828.5(HPSE2):c.957-17C>T	HPSE2	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 445627	NM_021828.5(HPSE2):c.943G>A (p.Ala315Thr)	HPSE2 (A315T +2 more)	Single nucleotide variant (missense variant)	not provided	GBenign/Likely benign
Select item 2955299	NM_021828.5(HPSE2):c.927G>A (p.Pro309=)	HPSE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2393575	NM_021828.5(HPSE2):c.923G>A (p.Arg308Gln)	HPSE2 (R250Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614210	NM_021828.5(HPSE2):c.919G>A (p.Gly307Arg)	HPSE2 (G249R +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2831697	NM_021828.5(HPSE2):c.906T>C (p.Tyr302=)	HPSE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1323070	NM_021828.5(HPSE2):c.902T>A (p.Leu301Ter)	HPSE2 (L189* +2 more)	Single nucleotide variant (nonsense)	Urofacial syndrome type 1	GPathogenic
Select item 779261	NM_021828.5(HPSE2):c.895G>A (p.Ala299Thr)	HPSE2 (A241T +2 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2559241	NM_021828.5(HPSE2):c.877A>T (p.Ile293Phe)	HPSE2 (I293F +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1898671	NM_021828.5(HPSE2):c.846T>C (p.Asp282=)	HPSE2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3284755	NM_021828.5(HPSE2):c.830G>A (p.Ser277Asn)	HPSE2 (S219N +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1507141	NM_021828.5(HPSE2):c.815G>A (p.Arg272Gln)	HPSE2 (R272Q +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1372181	NM_021828.5(HPSE2):c.799C>T (p.Arg267Trp)	HPSE2 (R209W +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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