"GeneDx"[submitter] AND "PXDN"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59131	GRCh38/hg38 2p25.3-24.3(chr2:30342-14866951)x3	ACP1, ADAM17 +413 more	Copy number gain	See cases	GPathogenic
Select item 60104	GRCh38/hg38 2p25.3(chr2:50661-3293835)x1	ACP1, ALKAL2 +68 more	Copy number loss	See cases	GPathogenic
Select item 59132	GRCh38/hg38 2p25.3-25.1(chr2:50661-9652907)x3	LOC126806115, LOC126806116 +237 more	Copy number gain	See cases	GPathogenic
Select item 58809	GRCh38/hg38 2p25.3(chr2:1110952-1699889)x3	LOC102723730, LOC122710286 +7 more	Copy number gain	See cases	GUncertain significance
Select item 152527	GRCh38/hg38 2p25.3(chr2:1614809-1844295)x3	MYT1L, PXDN	Copy number gain	See cases	GLikely benign
Select item 1181985	NM_012293.3(PXDN):c.*328A>G	PXDN	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1191060	NM_012293.3(PXDN):c.*158C>T	PXDN	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 790962	NM_012293.3(PXDN):c.4437C>T (p.Pro1479=)	PXDN	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 7 +2 more	GBenign/Likely benign
Select item 1216923	NM_012293.3(PXDN):c.4321-16C>T	PXDN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1182742	NM_012293.3(PXDN):c.4321-123C>G	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186952	NM_012293.3(PXDN):c.4321-197A>G	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207744	NM_012293.3(PXDN):c.4321-240C>T	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1296702	NM_012293.3(PXDN):c.4320+254A>G	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1202963	NM_012293.3(PXDN):c.4320+223C>G	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1252237	NM_012293.3(PXDN):c.4320+220del	PXDN	Deletion (intron variant)	not provided	GBenign
Select item 1181085	NM_012293.3(PXDN):c.4320+167G>A	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256952	NM_012293.3(PXDN):c.4320+120T>C	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1242594	NM_012293.3(PXDN):c.4320+58A>G	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 707007	NM_012293.3(PXDN):c.4293A>G (p.Lys1431=)	PXDN	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 7 +1 more	GBenign
Select item 707113	NM_012293.3(PXDN):c.4207-6C>T	PXDN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1213438	NM_012293.3(PXDN):c.4207-53C>T	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191243	NM_012293.3(PXDN):c.4207-116C>T	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267466	NM_012293.3(PXDN):c.4206+249T>G	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243690	NM_012293.3(PXDN):c.4206+165A>G	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1217676	NM_012293.3(PXDN):c.4206+134C>A	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1185418	NM_012293.3(PXDN):c.4206+81A>G	PXDN	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 7 +1 more	GBenign
Select item 1185419	NM_012293.3(PXDN):c.4206+79G>A	PXDN	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 7 +1 more	GBenign
Select item 1223078	NM_012293.3(PXDN):c.4206+74G>A	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185420	NM_012293.3(PXDN):c.4206+73G>C	PXDN	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 7 +1 more	GBenign
Select item 1240510	NM_012293.3(PXDN):c.4206+70C>T	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197194	NM_012293.3(PXDN):c.4206+62C>T	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2502695	NM_012293.3(PXDN):c.4195C>A (p.Leu1399Ile)	PXDN (L1399I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 392944	NM_012293.3(PXDN):c.4126C>T (p.Arg1376Cys)	PXDN (R1376C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260231	NM_012293.3(PXDN):c.4124C>T (p.Thr1375Ile)	PXDN (T1375I)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 7 +2 more	GBenign/Likely benign
Select item 260230	NM_012293.3(PXDN):c.4088G>A (p.Gly1363Glu)	PXDN (G1363E)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 7 +2 more	GBenign/Likely benign
Select item 932291	NM_012293.3(PXDN):c.4085_4086del (p.Gln1362fs)	PXDN (Q1362fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1238679	NM_012293.3(PXDN):c.4074-40A>G	PXDN	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1257737	NM_012293.3(PXDN):c.4074-105_4074-54del	PXDN	Deletion (intron variant)	not provided	GBenign
Select item 1196328	NM_012293.3(PXDN):c.4073+90G>A	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194223	NM_012293.3(PXDN):c.4073+50C>T	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260229	NM_012293.3(PXDN):c.3953-14T>C	PXDN	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1205813	NM_012293.3(PXDN):c.3953-46G>T	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1280482	NM_012293.3(PXDN):c.3953-262A>G	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186395	NM_012293.3(PXDN):c.3953-321C>T	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1191130	NM_012293.3(PXDN):c.3952+137G>A	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260228	NM_012293.3(PXDN):c.3921A>G (p.Val1307=)	PXDN	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 7 +2 more	GBenign
Select item 772168	NM_012293.3(PXDN):c.3906C>T (p.Asp1302=)	PXDN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 260227	NM_012293.3(PXDN):c.3850G>T (p.Val1284Leu)	PXDN (V1284L)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 7 +2 more	GBenign
Select item 1211281	NM_012293.3(PXDN):c.3744-181T>G	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253531	NM_012293.3(PXDN):c.3743+135T>A	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 707377	NM_012293.3(PXDN):c.3621G>T (p.Ser1207=)	PXDN	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 7 +1 more	GBenign
Select item 1230350	NM_012293.3(PXDN):c.3609-257C>G	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233183	NM_012293.3(PXDN):c.3609-308T>C	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1231449	NM_012293.3(PXDN):c.3609-311G>A	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289459	NM_012293.3(PXDN):c.3608+102G>T	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 471915	NM_012293.3(PXDN):c.3593G>A (p.Arg1198Gln)	PXDN (R1198Q)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign
Select item 707263	NM_012293.3(PXDN):c.3291C>A (p.Pro1097=)	PXDN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 260226	NM_012293.3(PXDN):c.3198C>T (p.Ala1066=)	PXDN	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 7 +2 more	GBenign/Likely benign
Select item 217340	NM_012293.3(PXDN):c.3190G>A (p.Ala1064Thr)	PXDN (A1064T)	Single nucleotide variant (missense variant)	PXDN-related condition +2 more	GBenign/Likely benign
Select item 772146	NM_012293.3(PXDN):c.3165C>T (p.Pro1055=)	PXDN	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 260225	NM_012293.3(PXDN):c.3093C>T (p.Tyr1031=)	PXDN	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 7 +2 more	GBenign
Select item 260224	NM_012293.3(PXDN):c.2892C>T (p.Asn964=)	PXDN	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 7 +2 more	GBenign
Select item 471914	NM_012293.3(PXDN):c.2827C>T (p.Arg943Trp)	PXDN (R943W)	Single nucleotide variant (missense variant)	PXDN-related condition +3 more	GConflicting classifications of pathogenicity
Select item 430142	NM_012293.3(PXDN):c.2789C>T (p.Ala930Val)	PXDN (A930V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 260223	NM_012293.3(PXDN):c.2730A>C (p.Ile910=)	PXDN	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 7 +2 more	GBenign
Select item 260222	NM_012293.3(PXDN):c.2661C>T (p.Ser887=)	PXDN	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 7 +2 more	GBenign
Select item 772147	NM_012293.3(PXDN):c.2640C>G (p.Arg880=)	PXDN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 1708013	NM_012293.3(PXDN):c.2162C>G (p.Ser721Trp)	PXDN (S721W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1205619	NM_012293.3(PXDN):c.2105-58G>A	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1204504	NM_012293.3(PXDN):c.2104+56C>T	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1288606	NM_012293.3(PXDN):c.1947-22C>T	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1197457	NM_012293.3(PXDN):c.1947-286G>A	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1285695	NM_012293.3(PXDN):c.1947-287C>T	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1300682	NM_012293.3(PXDN):c.1946+21C>T	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 260221	NM_012293.3(PXDN):c.1946+6G>A	PXDN	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 1706898	NM_012293.3(PXDN):c.1838-231CTT[2]	PXDN	Microsatellite (intron variant)	not provided	GLikely benign
Select item 1237851	NM_012293.3(PXDN):c.1838-270G>A	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1257540	NM_012293.3(PXDN):c.1837+161G>A	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268485	NM_012293.3(PXDN):c.1837+145C>G	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230787	NM_012293.3(PXDN):c.1837+23_1837+24dup	PXDN	Duplication (intron variant)	not provided	GBenign
Select item 260220	NM_012293.3(PXDN):c.1836T>C (p.Asn612=)	PXDN	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 7 +2 more	GBenign
Select item 707008	NM_012293.3(PXDN):c.1805C>T (p.Ser602Leu)	PXDN (S602L)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 7 +1 more	GBenign/Likely benign
Select item 1213513	NM_012293.3(PXDN):c.1681-323T>C	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 569961	NM_012293.3(PXDN):c.1657G>A (p.Glu553Lys)	PXDN (E553K)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 7 +1 more	GUncertain significance
Select item 260219	NM_012293.3(PXDN):c.1568-19C>G	PXDN	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 7 +2 more	GBenign
Select item 1216780	NM_012293.3(PXDN):c.1568-26C>T	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202233	NM_012293.3(PXDN):c.1568-240C>T	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1216674	NM_012293.3(PXDN):c.1567+126G>A	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237127	NM_012293.3(PXDN):c.1567+110G>C	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185421	NM_012293.3(PXDN):c.1567+67C>T	PXDN	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 7 +1 more	GBenign
Select item 707206	NM_012293.3(PXDN):c.1495C>G (p.Gln499Glu)	PXDN (Q499E)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 1226539	NM_012293.3(PXDN):c.1410G>A (p.Gly470=)	PXDN	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1259210	NM_012293.3(PXDN):c.1409-251C>G	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1186099	NM_012293.3(PXDN):c.1409-322A>G	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1259653	NM_012293.3(PXDN):c.1408+179T>C	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1185422	NM_012293.3(PXDN):c.1408+164T>C	PXDN	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 7 +1 more	GBenign
Select item 1197966	NM_012293.3(PXDN):c.1408+48G>A	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1208789	NM_012293.3(PXDN):c.1292-21T>C	PXDN	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1231033	NM_012293.3(PXDN):c.1292-273T>G	PXDN	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1200013	NM_012293.3(PXDN):c.1291+277_1291+278dup	PXDN	Duplication (intron variant)	not provided	GLikely benign

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