PRXL2A[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148945	GRCh38/hg38 10q11.23-23.2(chr10:50729367-87147204)x3	LOC129390180, LOC129390181 +1008 more	Copy number gain	See cases	GPathogenic
Select item 153276	GRCh38/hg38 10q22.3-23.2(chr10:79689360-87223773)x1	ADIRF, ADIRF-AS1 +174 more	Copy number loss	See cases	GPathogenic
Select item 58748	GRCh38/hg38 10q22.3-23.2(chr10:79719429-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 147367	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87068261)x1	ADIRF, ADIRF-AS1 +166 more	Copy number loss	See cases	GPathogenic
Select item 58751	GRCh38/hg38 10q22.3-23.2(chr10:79802022-87358394)x1	ADIRF, ADIRF-AS1 +178 more	Copy number loss	See cases	GPathogenic
Select item 155111	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87180672)x1	FAM25A, GHITM +168 more	Copy number loss	See cases	GPathogenic
Select item 59702	GRCh38/hg38 10q22.3-23.2(chr10:79881238-87182117)x3	SHLD2, SNCG +168 more	Copy number gain	See cases	GPathogenic
Select item 33096	GRCh38/hg38 10q22.3-23.2(chr10:79882162-87068261)x1	ADIRF, ADIRF-AS1 +163 more	Copy number loss	See cases	GPathogenic
Select item 58757	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87109827)x1	LOC130004227, LOC130004228 +168 more	Copy number loss	See cases	GPathogenic
Select item 58755	GRCh38/hg38 10q22.3-23.2(chr10:79898516-87358394)x1	ADIRF, ADIRF-AS1 +175 more	Copy number loss	See cases	GPathogenic
Select item 58754	GRCh38/hg38 10q22.3-23.2(chr10:79898516-86964367)x1	ANXA11, BMPR1A +150 more	Copy number loss	See cases	GPathogenic
Select item 146022	GRCh38/hg38 10q22.3-23.2(chr10:79925613-86951708)x1	LINC00857, LINC00858 +147 more	Copy number loss	See cases	GPathogenic
Select item 2614677	NM_032333.5(PRXL2A):c.40A>G (p.Met14Val)	PRXL2A (M10V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220084	NM_032333.5(PRXL2A):c.51T>G (p.Ile17Met)	PRXL2A (I6M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220085	NM_032333.5(PRXL2A):c.81G>C (p.Leu27Phe)	PRXL2A (L27F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220078	NM_032333.5(PRXL2A):c.238G>A (p.Val80Met)	PRXL2A (V80M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220079	NM_032333.5(PRXL2A):c.278C>T (p.Ala93Val)	PRXL2A (A89V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220080	NM_032333.5(PRXL2A):c.297A>C (p.Lys99Asn)	PRXL2A (K99N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220081	NM_032333.5(PRXL2A):c.319G>A (p.Val107Ile)	PRXL2A (V107I +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539781	NM_032333.5(PRXL2A):c.460A>T (p.Ile154Phe)	PRXL2A (I150F +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2589189	NM_032333.5(PRXL2A):c.472G>A (p.Val158Met)	PRXL2A (V158M +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220082	NM_032333.5(PRXL2A):c.517A>T (p.Asn173Tyr)	PRXL2A (N173Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3220083	NM_032333.5(PRXL2A):c.519C>G (p.Asn173Lys)	PRXL2A (N169K +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2614310	NM_032333.5(PRXL2A):c.594C>G (p.His198Gln)	PRXL2A (H187Q +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684602	GRCh37/hg19 10q11.21-24.2(chr10:42709645-100834951)x3	RRP12, RTKN2 +332 more	Copy number gain	not provided	GPathogenic
Select item 2580310	GRCh37/hg19 10q22.3-23.2(chr10:81611360-89264122)x3	ADIRF, ADIRF-AS1 +33 more	Copy number gain	See cases	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	MTG1, NPS +679 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	A1CF, ABCC2 +670 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 1703626	GRCh37/hg19 10q22.3-23.2(chr10:81630468-88980961)	ADIRF, ADIRF-AS1 +32 more	Copy number loss	Chromosome 10q23 deletion syndrome	GPathogenic
Select item 1340005	GRCh37/hg19 10q22.3-23.1(chr10:81622295-83932730)x1	ANXA11, DYDC1 +9 more	Copy number loss	not provided	GUncertain significance
Select item 988906	GRCh37/hg19 10q23.1(chr10:82028518-82819271)x1	DYDC1, DYDC2 +4 more	Copy number loss	not provided	GUncertain significance
Select item 981172	Single allele	BMPR1A, CCSER2 +33 more	Deletion	not provided	GPathogenic
Select item 979277	GRCh37/hg19 10q23.1(chr10:82008644-82210730)x3	DYDC1, DYDC2 +2 more	Copy number gain	not provided	GUncertain significance
Select item 979275	GRCh37/hg19 10q22.3-23.2(chr10:81457752-89253430)x1	DYDC1, DYDC2 +34 more	Copy number loss	not provided	GPathogenic
Select item 979274	GRCh37/hg19 10q22.3-23.2(chr10:81617260-89146780)x1	ADIRF, ADIRF-AS1 +33 more	Copy number loss	not provided	GPathogenic
Select item 815362	GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	not provided	GPathogenic
Select item 625557	GRCh37/hg19 10q22.3-23.2(chr10:81697811-88768847)	ADIRF, ADIRF-AS1 +29 more	Copy number loss	not provided	GPathogenic
Select item 563800	GRCh37/hg19 10q21.3-23.32(chr10:69040366-93194993)x3	ACTA2, ADAMTS14 +168 more	Copy number gain	not provided	GPathogenic
Select item 563793	GRCh37/hg19 10q22.3-23.2(chr10:81644079-88973306)x3	LINC01520, LOC101929662 +32 more	Copy number gain	not provided	GLikely pathogenic
Select item 563786	GRCh37/hg19 10q22.3-23.1(chr10:79808669-84008729)x3	MAT1A, DYDC1 +17 more	Copy number gain	not provided	GUncertain significance
Select item 523165	GRCh37/hg19 10q11.21-26.3(chr10:42347406-135534747)x1	COX15, CPEB3 +569 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 442213	GRCh37/hg19 10q23.1-23.2(chr10:82013260-89166455)x1	ADIRF, ADIRF-AS1 +29 more	Copy number loss	See cases	GPathogenic
Select item 442036	GRCh37/hg19 10q22.3-23.2(chr10:81617260-88980961)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 441795	GRCh37/hg19 10q22.3-23.2(chr10:81597767-88951347)x1	ADIRF, ADIRF-AS1 +32 more	Copy number loss	See cases	GPathogenic
Select item 395199	GRCh37/hg19 10q22.3-23.2(chr10:81892411-88722952)x1	ANXA11, BMPR1A +24 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	BCCIP, BEND7 +722 more	Copy number gain	See cases	GPathogenic

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Items: 48