PXDN[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155714	GRCh38/hg38 2p25.3(chr2:12770-4318861)x3	ACP1, ADI1 +104 more	Copy number gain	See cases	GUncertain significance
Select item 153520	GRCh38/hg38 2p25.3-23.3(chr2:12770-25039694)x3	LOC129933244, LOC129933245 +653 more	Copy number gain	See cases	GPathogenic
Select item 153475	GRCh38/hg38 2p25.3(chr2:12770-2748672)x1	ACP1, ALKAL2 +50 more	Copy number loss	See cases	GPathogenic
Select item 153441	GRCh38/hg38 2p25.3-22.3(chr2:12770-33711509)x3	LOC126806103, LOC126806104 +1047 more	Copy number gain	See cases	GPathogenic
Select item 152339	GRCh38/hg38 2p25.3(chr2:12770-2310816)x1	ACP1, ALKAL2 +46 more	Copy number loss	See cases	GLikely pathogenic
Select item 152888	GRCh38/hg38 2p25.3(chr2:17019-2305267)x1	ACP1, ALKAL2 +46 more	Copy number loss	See cases	GPathogenic
Select item 152693	GRCh38/hg38 2p25.3-24.1(chr2:17019-20001056)x3	ACP1, ADAM17 +498 more	Copy number gain	See cases	GPathogenic
Select item 152440	GRCh38/hg38 2p25.3-25.2(chr2:17019-4957745)x3	ACP1, ADI1 +108 more	Copy number gain	See cases	GLikely pathogenic
Select item 148892	GRCh38/hg38 2p25.3(chr2:17019-1645317)x1	ACP1, ALKAL2 +44 more	Copy number loss	See cases	GLikely pathogenic
Select item 148269	GRCh38/hg38 2p25.3-23.3(chr2:17019-26318846)x3	LOC129933186, LOC129933187 +736 more	Copy number gain	See cases	GPathogenic
Select item 154668	GRCh38/hg38 2p25.3-25.2(chr2:30341-4642399)x3	ACP1, ADI1 +107 more	Copy number gain	See cases	GPathogenic
Select item 148175	GRCh38/hg38 2p25.3(chr2:30341-2656139)x1	ACP1, ALKAL2 +49 more	Copy number loss	See cases	GPathogenic
Select item 146260	GRCh38/hg38 2p25.3(chr2:30341-1969402)x1	ACP1, ALKAL2 +45 more	Copy number loss	See cases	GPathogenic
Select item 146223	GRCh38/hg38 2p25.3(chr2:30341-3449132)x1	ACP1, ALKAL2 +75 more	Copy number loss	See cases	GPathogenic
Select item 146072	GRCh38/hg38 2p25.3-23.2(chr2:30341-28419664)x3	ABHD1, ACP1 +893 more	Copy number gain	See cases	GPathogenic
Select item 144454	GRCh38/hg38 2p25.3-25.2(chr2:30341-4932359)x3	ACP1, ADI1 +108 more	Copy number gain	See cases	GPathogenic
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	LOC129933017, LOC129933018 +237 more	Copy number gain	See cases	GPathogenic
Select item 59133	GRCh38/hg38 2p25.3-16.1(chr2:66097-55570637)x3	LOC129933311, LOC129933312 +1631 more	Copy number gain	See cases	GPathogenic
Select item 154817	GRCh38/hg38 2p25.3(chr2:131730-2713517)x1	ACP1, ALKAL2 +49 more	Copy number loss	See cases	GPathogenic
Select item 155615	GRCh38/hg38 2p25.3-21(chr2:236816-45983232)x3	LINC01115, LINC01121 +1400 more	Copy number gain	See cases	GPathogenic
Select item 153114	GRCh38/hg38 2p25.3(chr2:888150-1784776)x3	LINC01939, LOC102723730 +11 more	Copy number gain	See cases	GUncertain significance
Select item 152816	GRCh38/hg38 2p25.3(chr2:1110952-1714227)x3	LOC102723730, LOC122710286 +7 more	Copy number gain	See cases	GUncertain significance
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 260217	NM_012293.3(PXDN):c.*1G>T	PXDN	Single nucleotide variant (3 prime UTR variant)	not specified	GLikely benign
Select item 790962	NM_012293.3(PXDN):c.4437C>T (p.Pro1479=)	PXDN	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 2728054	NM_012293.3(PXDN):c.4425G>A (p.Ala1475=)	PXDN	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 7	GLikely benign
Select item 2547884	NM_012293.3(PXDN):c.4387C>T (p.Pro1463Ser)	PXDN (P1463S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3311809	NM_012293.3(PXDN):c.4378G>A (p.Val1460Met)	PXDN (V1460M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2854449	NM_012293.3(PXDN):c.4357C>A (p.Pro1453Thr)	PXDN (P1453T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 471916	NM_012293.3(PXDN):c.4342G>A (p.Val1448Met)	PXDN (V1448M)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 7	GUncertain significance
Select item 707356	NM_012293.3(PXDN):c.4341C>T (p.Phe1447=)	PXDN	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 7 +1 more	GBenign
Select item 1216923	NM_012293.3(PXDN):c.4321-16C>T	PXDN	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 7 +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 2754213	NM_012293.3(PXDN):c.4320+10G>A	PXDN	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 7	GLikely benign
Select item 3357113	NM_012293.3(PXDN):c.4319A>G (p.Lys1440Arg)	PXDN (K1440R)	Single nucleotide variant (missense variant)	PXDN-related disorder	GUncertain significance
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 2371193	NM_012293.3(PXDN):c.4255G>A (p.Gly1419Arg)	PXDN (G1419R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 694376	NM_012293.3(PXDN):c.4216_4225dup (p.Arg1409delinsProTer)	PXDN	Duplication (nonsense)	Anterior segment dysgenesis 7	GPathogenic
Select item 707113	NM_012293.3(PXDN):c.4207-6C>T	PXDN	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 7 +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 3005842	NM_012293.3(PXDN):c.4206+15G>A	PXDN	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 7	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 1466502	NM_012293.3(PXDN):c.4144A>G (p.Thr1382Ala)	PXDN (T1382A)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3150066	NM_012293.3(PXDN):c.4127G>A (p.Arg1376His)	PXDN (R1376H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 392944	NM_012293.3(PXDN):c.4126C>T (p.Arg1376Cys)	PXDN (R1376C)	Single nucleotide variant (missense variant)	not provided +1 more	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 1461166	NM_012293.3(PXDN):c.4123A>C (p.Thr1375Pro)	PXDN (T1375P)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 7 +1 more	GUncertain significance
Select item 2533667	NM_012293.3(PXDN):c.4104C>G (p.Asn1368Lys)	PXDN (N1368K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 260230	NM_012293.3(PXDN):c.4088G>A (p.Gly1363Glu)	PXDN (G1363E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign/Likely benign
Select item 932291	NM_012293.3(PXDN):c.4085_4086del (p.Gln1362fs)	PXDN (Q1362fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 2896009	NM_012293.3(PXDN):c.4085A>C (p.Gln1362Pro)	PXDN (Q1362P)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 7	GUncertain significance
Select item 1238679	NM_012293.3(PXDN):c.4074-40A>G	PXDN	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 7 +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 2458414	NM_012293.3(PXDN):c.4061G>A (p.Arg1354Gln)	PXDN (R1354Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2591871	NM_012293.3(PXDN):c.4060C>T (p.Arg1354Trp)	PXDN (R1354W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 731388	NM_012293.3(PXDN):c.4029G>A (p.Gln1343=)	PXDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2275155	NM_012293.3(PXDN):c.4007G>A (p.Arg1336Gln)	PXDN (R1336Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 748467	NM_012293.3(PXDN):c.3987C>G (p.Ser1329=)	PXDN	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3362525	NM_012293.3(PXDN):c.3964del (p.Arg1322fs)	PXDN (R1322fs)	Deletion (frameshift variant)	Anterior segment dysgenesis 7	GLikely pathogenic
Select item 2076418	NM_012293.3(PXDN):c.3953-5T>C	PXDN	Single nucleotide variant (intron variant)	Anterior segment dysgenesis 7	GLikely benign
Select item 260229	NM_012293.3(PXDN):c.3953-14T>C	PXDN	Single nucleotide variant (intron variant)	not specified +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 940832	NM_012293.3(PXDN):c.3949G>A (p.Glu1317Lys)	PXDN (E1317K)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 7	GUncertain significance
Select item 260228	NM_012293.3(PXDN):c.3921A>G (p.Val1307=)	PXDN	Single nucleotide variant (synonymous variant)	not specified +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 3036049	NM_012293.3(PXDN):c.3894C>T (p.Tyr1298=)	PXDN	Single nucleotide variant (synonymous variant)	PXDN-related disorder	GLikely benign
Select item 786760	NM_012293.3(PXDN):c.3876G>A (p.Ala1292=)	PXDN	Single nucleotide variant (synonymous variant)	Anterior segment dysgenesis 7	GLikely benign
Select item 1449754	NM_012293.3(PXDN):c.3862G>A (p.Val1288Met)	PXDN (V1288M)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 7 +1 more	GUncertain significance
Select item 260227	NM_012293.3(PXDN):c.3850G>T (p.Val1284Leu)	PXDN (V1284L)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3067418	NM_012293.3(PXDN):c.3848G>A (p.Arg1283Gln)	PXDN (R1283Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1361779	NM_012293.3(PXDN):c.3832G>A (p.Ala1278Thr)	PXDN (A1278T)	Single nucleotide variant (missense variant)	Anterior segment dysgenesis 7	GUncertain significance
Select item 3350281	NM_012293.3(PXDN):c.3831C>T (p.Asn1277=)	PXDN	Single nucleotide variant (synonymous variant)	PXDN-related disorder	GLikely benign

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