"Invitae"[submitter] AND "XPNPEP3"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1508602	NM_022098.4(XPNPEP3):c.47A>T (p.Asn16Ile)	XPNPEP3 (N16I)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 1944382	NM_022098.4(XPNPEP3):c.51C>T (p.Val17=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 341666	NM_022098.4(XPNPEP3):c.63A>G (p.Ser21=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 1990596	NM_022098.4(XPNPEP3):c.64+5G>C	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 2195408	NM_022098.4(XPNPEP3):c.64+9C>A	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 471411	NC_000022.10:g.(?_41264983)_(41729217_?)dup	LOC130067524, LOC130067525 +27 more	Duplication	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 2164369	NM_022098.4(XPNPEP3):c.65-17C>T	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 2975449	NM_022098.4(XPNPEP3):c.65-10C>T	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 1415192	NM_022098.4(XPNPEP3):c.85C>T (p.Arg29Ter)	XPNPEP3 (R29*)	Single nucleotide variant (nonsense)	Nephronophthisis-like nephropathy 1	GPathogenic
Select item 341667	NM_022098.4(XPNPEP3):c.111A>G (p.Pro37=)	XPNPEP3	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 641596	NM_022098.4(XPNPEP3):c.119G>A (p.Arg40Lys)	XPNPEP3 (R40K)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 2730184	NM_022098.4(XPNPEP3):c.182-3T>C	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 1554923	NM_022098.4(XPNPEP3):c.183G>A (p.Gly61=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 853210	NM_022098.4(XPNPEP3):c.218C>T (p.Ala73Val)	XPNPEP3 (A73V)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 2886078	NM_022098.4(XPNPEP3):c.250C>T (p.Gln84Ter)	XPNPEP3 (Q84*)	Single nucleotide variant (nonsense)	Nephronophthisis-like nephropathy 1	GPathogenic
Select item 901106	NM_022098.4(XPNPEP3):c.263A>G (p.Gln88Arg)	XPNPEP3 (Q88R)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 1398456	NM_022098.4(XPNPEP3):c.271A>G (p.Ser91Gly)	XPNPEP3 (S91G)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 1522050	NM_022098.4(XPNPEP3):c.272G>A (p.Ser91Asn)	XPNPEP3 (S91N)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 2184777	NM_022098.4(XPNPEP3):c.287C>T (p.Thr96Ile)	XPNPEP3 (T96I)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1 +1 more	GUncertain significance
Select item 1911252	NM_022098.4(XPNPEP3):c.289G>A (p.Val97Met)	XPNPEP3 (V97M)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 2162945	NM_022098.4(XPNPEP3):c.292G>A (p.Val98Ile)	XPNPEP3 (V98I)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 1569266	NM_022098.4(XPNPEP3):c.297G>A (p.Val99=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 1379170	NM_022098.4(XPNPEP3):c.349C>G (p.Gln117Glu)	XPNPEP3 (Q117E)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 700466	NM_022098.4(XPNPEP3):c.366G>A (p.Leu122=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 2010081	NM_022098.4(XPNPEP3):c.375T>C (p.Cys125=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 798225	NM_022098.4(XPNPEP3):c.388C>G (p.Pro130Ala)	XPNPEP3 (P130A)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GConflicting classifications of pathogenicity
Select item 2068127	NM_022098.4(XPNPEP3):c.393T>C (p.Asp131=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 1978421	NM_022098.4(XPNPEP3):c.440A>C (p.His147Pro)	XPNPEP3 (H147P)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 2723574	NM_022098.4(XPNPEP3):c.462T>G (p.Pro154=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 2415202	NM_022098.4(XPNPEP3):c.463C>T (p.Arg155Trp)	XPNPEP3 (R155W)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 2962871	NM_022098.4(XPNPEP3):c.567A>G (p.Gln189=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 695441	NM_022098.4(XPNPEP3):c.590-9C>T	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GBenign
Select item 167851	NM_022098.4(XPNPEP3):c.590-8A>G	XPNPEP3	Single nucleotide variant (intron variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 700347	NM_022098.4(XPNPEP3):c.597G>A (p.Thr199=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GConflicting classifications of pathogenicity
Select item 1579680	NM_022098.4(XPNPEP3):c.612T>C (p.Tyr204=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 2730437	NM_022098.4(XPNPEP3):c.615C>T (p.Asp205=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 2055867	NM_022098.4(XPNPEP3):c.700C>T (p.Arg234Trp)	XPNPEP3 (R234W)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 341668	NM_022098.4(XPNPEP3):c.718A>T (p.Ile240Leu)	XPNPEP3 (I240L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2010717	NM_022098.4(XPNPEP3):c.725G>T (p.Arg242Leu)	XPNPEP3 (R242L)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 2151427	NM_022098.4(XPNPEP3):c.740A>G (p.Lys247Arg)	XPNPEP3 (K247R)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 2153928	NM_022098.4(XPNPEP3):c.761G>A (p.Arg254Gln)	XPNPEP3 (R254Q)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 2056328	NM_022098.4(XPNPEP3):c.761G>T (p.Arg254Leu)	XPNPEP3 (R254L)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GBenign
Select item 1979020	NM_022098.4(XPNPEP3):c.774T>C (p.Ala258=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 901647	NM_022098.4(XPNPEP3):c.792+13T>C	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GConflicting classifications of pathogenicity
Select item 1951077	NM_022098.4(XPNPEP3):c.792+19A>G	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 2078337	NM_022098.4(XPNPEP3):c.793-19T>G	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 1596041	NM_022098.4(XPNPEP3):c.793-18C>T	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 695160	NM_022098.4(XPNPEP3):c.817A>G (p.Ser273Gly)	XPNPEP3 (S273G)	Single nucleotide variant (missense variant)	XPNPEP3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2195396	NM_022098.4(XPNPEP3):c.855+11G>A	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 2145907	NM_022098.4(XPNPEP3):c.856-14G>A	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 632390	NM_022098.4(XPNPEP3):c.856-2A>G	XPNPEP3	Single nucleotide variant (splice acceptor variant)	Nephronophthisis-like nephropathy 1	GConflicting classifications of pathogenicity
Select item 2041308	NM_022098.4(XPNPEP3):c.882C>T (p.Gly294=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 216735	NM_022098.4(XPNPEP3):c.891T>G (p.Ile297Met)	XPNPEP3 (I297M)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1 +1 more	GUncertain significance
Select item 1712468	NM_022098.4(XPNPEP3):c.926G>A (p.Arg309Gln)	XPNPEP3 (R309Q)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1 +1 more	GUncertain significance
Select item 1595502	NM_022098.4(XPNPEP3):c.933C>T (p.Asn311=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 414175	NM_022098.4(XPNPEP3):c.963C>T (p.Leu321=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 1002530	NM_022098.4(XPNPEP3):c.969+5G>A	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 2889417	NM_022098.4(XPNPEP3):c.969+13C>G	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 2775996	NM_022098.4(XPNPEP3):c.969+17C>T	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 2789499	NM_022098.4(XPNPEP3):c.970-18T>A	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 341669	NM_022098.4(XPNPEP3):c.970-9T>C	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GBenign/Likely benign
Select item 341670	NM_022098.4(XPNPEP3):c.970-8T>C	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GBenign/Likely benign
Select item 702986	NM_022098.4(XPNPEP3):c.970-4C>T	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 341671	NM_022098.4(XPNPEP3):c.1049A>G (p.Asn350Ser)	XPNPEP3 (N350S)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 1497807	NM_022098.4(XPNPEP3):c.1055+2T>G	XPNPEP3	Single nucleotide variant (splice donor variant)	Nephronophthisis-like nephropathy 1	GLikely pathogenic
Select item 341672	NM_022098.4(XPNPEP3):c.1055+15G>A	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GBenign
Select item 696213	NM_022098.4(XPNPEP3):c.1056-9C>T	XPNPEP3	Single nucleotide variant (intron variant)	XPNPEP3-related condition +2 more	GConflicting classifications of pathogenicity
Select item 2721574	NM_022098.4(XPNPEP3):c.1056-8G>A	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 2734619	NM_022098.4(XPNPEP3):c.1056-5C>G	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 2191495	NM_022098.4(XPNPEP3):c.1077A>G (p.Glu359=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 2070842	NM_022098.4(XPNPEP3):c.1093C>G (p.Leu365Val)	XPNPEP3 (L365V)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 241419	NM_022098.4(XPNPEP3):c.1122C>T (p.Leu374=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 1152185	NM_022098.4(XPNPEP3):c.1173G>C (p.Leu391=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 2094717	NM_022098.4(XPNPEP3):c.1182G>A (p.Gln394=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 2026232	NM_022098.4(XPNPEP3):c.1187T>A (p.Leu396His)	XPNPEP3 (L396H)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 341675	NM_022098.4(XPNPEP3):c.1188T>C (p.Leu396=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GConflicting classifications of pathogenicity
Select item 737913	NM_022098.4(XPNPEP3):c.1218G>A (p.Lys406=)	XPNPEP3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1161316	NM_022098.4(XPNPEP3):c.1236+8_1236+12del	XPNPEP3	Microsatellite (intron variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 2041892	NM_022098.4(XPNPEP3):c.1237-10T>C	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 199163	NM_022098.4(XPNPEP3):c.1244G>A (p.Arg415Gln)	XPNPEP3 (R415Q)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1 +1 more	GUncertain significance
Select item 940054	NM_022098.4(XPNPEP3):c.1259A>G (p.His420Arg)	XPNPEP3 (H420R)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 2156762	NM_022098.4(XPNPEP3):c.1261C>G (p.His421Asp)	XPNPEP3 (H421D)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 760460	NM_022098.4(XPNPEP3):c.1296C>T (p.Asp432=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 341677	NM_022098.4(XPNPEP3):c.1313G>A (p.Arg438His)	XPNPEP3 (R438H)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2103718	NM_022098.4(XPNPEP3):c.1314T>A (p.Arg438=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 1555671	NM_022098.4(XPNPEP3):c.1357+19A>G	XPNPEP3	Single nucleotide variant (intron variant)	Nephronophthisis-like nephropathy 1	GBenign/Likely benign
Select item 2101875	NM_022098.4(XPNPEP3):c.1363T>C (p.Tyr455His)	XPNPEP3 (Y455H)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 1923695	NM_022098.4(XPNPEP3):c.1379A>G (p.Asp460Gly)	XPNPEP3 (D460G)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 2066781	NM_022098.4(XPNPEP3):c.1402C>T (p.Arg468Trp)	XPNPEP3 (R468W)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 1990616	NM_022098.4(XPNPEP3):c.1427A>C (p.Asp476Ala)	XPNPEP3 (D476A)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 1905745	NM_022098.4(XPNPEP3):c.1449C>T (p.Asp483=)	XPNPEP3	Single nucleotide variant (synonymous variant)	Nephronophthisis-like nephropathy 1	GLikely benign
Select item 2890978	NM_022098.4(XPNPEP3):c.1450T>C (p.Ser484Pro)	XPNPEP3 (S484P)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 538749	NM_022098.4(XPNPEP3):c.1477C>G (p.Pro493Ala)	XPNPEP3 (P493A)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GConflicting classifications of pathogenicity
Select item 2121113	NM_022098.4(XPNPEP3):c.1483G>A (p.Glu495Lys)	XPNPEP3 (E495K)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 2123686	NM_022098.4(XPNPEP3):c.1488G>T (p.Met496Ile)	XPNPEP3 (M496I)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 1439938	NM_022098.4(XPNPEP3):c.1511G>A (p.Ser504Asn)	XPNPEP3 (S504N)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 580250	NM_022098.4(XPNPEP3):c.1516G>A (p.Ala506Thr)	XPNPEP3 (A506T)	Single nucleotide variant (missense variant)	Nephronophthisis-like nephropathy 1 +1 more	GUncertain significance
Select item 2426715	NC_000022.10:g.(?_41282297)_(41282539_?)del	XPNPEP3	Deletion	Nephronophthisis-like nephropathy 1	GPathogenic
Select item 2426714	NC_000022.10:g.(?_41277754)_(41278201_?)del	XPNPEP3	Deletion	Nephronophthisis-like nephropathy 1	GUncertain significance
Select item 2424165	NC_000022.10:g.(?_41074407)_(41489122_?)del	DNAJB7, EP300 +5 more	Deletion	Rubinstein-Taybi syndrome due to EP300 haploinsufficiency	GPathogenic

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