PTPRE[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 58821	GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1	ABRAXAS2, ACADSB +182 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 more	Copy number loss	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 more	Copy number loss	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	See cases	GPathogenic
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	LOC126861083, LOC126861084 +201 more	Copy number loss	Duane syndrome type 1 +1 more	GPathogenic
Select item 58823	GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1	ADAM12, ADAM8 +207 more	Copy number loss	See cases	GPathogenic
Select item 144558	GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1	LOC130005011, LOC130005012 +199 more	Copy number loss	See cases	GPathogenic
Select item 155548	GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1	ADAM8, ADGRA1 +199 more	Copy number loss	See cases	GPathogenic
Select item 155174	GRCh38/hg38 10q26.2-26.3(chr10:127435985-133622588)x1	ADAM8, ADGRA1 +192 more	Copy number loss	See cases	GPathogenic
Select item 153543	GRCh38/hg38 10q26.2-26.3(chr10:127507503-129782976)x3	AS-PTPRE, CLRN3 +34 more	Copy number gain	See cases	GUncertain significance
Select item 146431	GRCh38/hg38 10q26.2-26.3(chr10:127640489-132776585)x1	AS-PTPRE, BNIP3 +121 more	Copy number loss	See cases	GPathogenic
Select item 152433	GRCh38/hg38 10q26.2-26.3(chr10:127664168-133622588)x3	ADAM8, ADGRA1 +190 more	Copy number gain	See cases	GLikely pathogenic
Select item 149102	GRCh38/hg38 10q26.2-26.3(chr10:127849717-133622588)x1	ADAM8, ADGRA1 +189 more	Copy number loss	See cases	GPathogenic
Select item 57914	GRCh38/hg38 10q26.2-26.3(chr10:127852284-129780378)x3	AS-PTPRE, CLRN3 +32 more	Copy number gain	See cases	GUncertain significance
Select item 2545371	NM_006504.6(PTPRE):c.49G>A (p.Ala17Thr)	PTPRE (A28T +2 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2555513	NM_006504.6(PTPRE):c.58C>G (p.Leu20Val)	PTPRE (L20V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311524	NM_006504.6(PTPRE):c.91G>A (p.Glu31Lys)	PTPRE (E51K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311526	NM_006504.6(PTPRE):c.101C>T (p.Thr34Met)	PTPRE (T34M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249795	NM_006504.6(PTPRE):c.113C>T (p.Pro38Leu)	LOC130004949, PTPRE (P58L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2602247	NM_006504.6(PTPRE):c.116C>T (p.Pro39Leu)	LOC130004949, PTPRE (P39L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347092	NM_006504.6(PTPRE):c.137C>T (p.Pro46Leu)	LOC130004949, PTPRE (P66L +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2384455	NM_006504.6(PTPRE):c.196G>A (p.Ala66Thr)	PTPRE (A77T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299636	NM_006504.6(PTPRE):c.316C>A (p.Pro106Thr)	PTPRE (P126T +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3149347	NM_006504.6(PTPRE):c.374G>A (p.Arg125His)	PTPRE (R125H +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204115	NM_006504.6(PTPRE):c.378C>G (p.Ile126Met)	PTPRE (I126M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3311527	NM_006504.6(PTPRE):c.439A>C (p.Ile147Leu)	PTPRE (I147L +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466088	NM_006504.6(PTPRE):c.683C>T (p.Ala228Val)	LOC126861090, PTPRE (A170V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149348	NM_006504.6(PTPRE):c.691G>A (p.Val231Ile)	LOC126861090, PTPRE (V173I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311525	NM_006504.6(PTPRE):c.748G>A (p.Asp250Asn)	PTPRE (D192N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290042	NM_006504.6(PTPRE):c.779G>A (p.Arg260Gln)	PTPRE (R202Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394151	NM_006504.6(PTPRE):c.787G>A (p.Val263Met)	PTPRE (V283M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595099	NM_006504.6(PTPRE):c.799G>A (p.Val267Met)	PTPRE (V267M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640962	NM_006504.6(PTPRE):c.852C>T (p.Pro284=)	PTPRE	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3149349	NM_006504.6(PTPRE):c.853G>A (p.Asp285Asn)	PTPRE (D285N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341234	NM_006504.6(PTPRE):c.965C>T (p.Thr322Met)	PTPRE (T102M +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2532746	NM_006504.6(PTPRE):c.991A>G (p.Ile331Val)	PTPRE (I351V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369860	NM_006504.6(PTPRE):c.994G>A (p.Val332Met)	PTPRE (V343M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310702	NM_006504.6(PTPRE):c.1114A>G (p.Asn372Asp)	PTPRE (N372D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149343	NM_006504.6(PTPRE):c.1246G>A (p.Gly416Ser)	PTPRE (G196S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149344	NM_006504.6(PTPRE):c.1260C>G (p.His420Gln)	PTPRE (H200Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274580	NM_006504.6(PTPRE):c.1264G>A (p.Asp422Asn)	PTPRE (D364N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355980	NM_006504.6(PTPRE):c.1273G>C (p.Gly425Arg)	PTPRE (G205R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281798	NM_006504.6(PTPRE):c.1310G>A (p.Arg437Gln)	PTPRE (R379Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2606628	NM_006504.6(PTPRE):c.1334C>T (p.Thr445Met)	PTPRE (T387M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203836	NM_006504.6(PTPRE):c.1587G>C (p.Gln529His)	PTPRE (Q529H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311522	NM_006504.6(PTPRE):c.1630G>T (p.Gly544Cys)	PTPRE (G562C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324028	NM_006504.6(PTPRE):c.1642C>T (p.His548Tyr)	PTPRE (H559Y +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297553	NM_006504.6(PTPRE):c.1655C>T (p.Thr552Met)	PTPRE (T332M +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2228404	NM_006504.6(PTPRE):c.1732G>A (p.Ala578Thr)	PTPRE (A598T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311529	NM_006504.6(PTPRE):c.1735C>T (p.Arg579Cys)	PTPRE (R359C +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204676	NM_006504.6(PTPRE):c.1736G>A (p.Arg579His)	PTPRE (R521H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3149346	NM_006504.6(PTPRE):c.1792A>G (p.Ile598Val)	PTPRE (I378V +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2276383	NM_006504.6(PTPRE):c.1795G>A (p.Gly599Arg)	PTPRE (G379R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311523	NM_006504.6(PTPRE):c.1897G>A (p.Gly633Arg)	PTPRE (G413R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2284200	NM_006504.6(PTPRE):c.2054T>C (p.Val685Ala)	PTPRE (V685A +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3311528	NM_006504.6(PTPRE):c.2086T>G (p.Tyr696Asp)	PTPRE (Y707D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic
Select item 2685391	GRCh37/hg19 10q26.2-26.3(chr10:128925940-135427143)x1	ADAM8, ADGRA1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2671973	GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1	TCERG1L, TCERG1L-AS1 +38 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	GLRX3, GPR26 +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 1808847	GRCh37/hg19 10q26.13-26.3(chr10:126662496-133985966)x3	ADAM12, BCCIP +24 more	Copy number gain	not provided	GUncertain significance
Select item 1808782	GRCh37/hg19 10q26.2(chr10:129298285-129812992)x3	CLRN3, FOXI2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 1808323	GRCh37/hg19 10q26.2(chr10:129160805-129922819)x3	CLRN3, DOCK1 +4 more	Copy number gain	not provided	GUncertain significance
Select item 1807724	GRCh37/hg19 10q26.2-26.3(chr10:128877896-131842835)x1	CLRN3, DOCK1 +7 more	Copy number loss	not provided	GPathogenic
Select item 1711099	GRCh37/hg19 10q26.13-26.3(chr10:127198625-135427143)x3	ADAM12, ADAM8 +47 more	Copy number gain	See cases	GPathogenic
Select item 1711096	GRCh37/hg19 10q26.13-26.3(chr10:126914469-135427143)x1	ADAM12, ADAM8 +47 more	Copy number loss	See cases	GPathogenic
Select item 1706486	GRCh37/hg19 10q26.2-26.3(chr10:129605105-135427143)x1	GLRX3, INPP5A +34 more	Copy number loss	See cases	GPathogenic
Select item 1527616	GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143)	ADAM8, ADGRA1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527608	GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	ABRAXAS2, ACADSB +68 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic

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