Related gene-specific medical variations for Gene (Select 5799) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2685279	GRCh37/hg19 7q36.3(chr7:157662760-157732786)x1	PTPRN2	Copy number loss	not provided	GUncertain significance
Select item 2610213	NM_002847.5(PTPRN2):c.2487C>A (p.Asp829Glu)	LOC126860255, PTPRN2 (D829E +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1809124	GRCh37/hg19 7q36.3(chr7:157412832-158291755)x1	PTPRN2	Copy number loss	not provided	GUncertain significance
Select item 815062	GRCh37/hg19 7q36.3(chr7:158111925-158403963)x3	PTPRN2	Copy number gain	not provided	GUncertain significance
Select item 815061	GRCh37/hg19 7q36.3(chr7:158029256-158183788)x1	PTPRN2	Copy number loss	not provided	GUncertain significance
Select item 815060	GRCh37/hg19 7q36.3(chr7:157867620-158385584)x3	PTPRN2	Copy number gain	not provided	GLikely benign
Select item 815058	GRCh37/hg19 7q36.3(chr7:157384968-157618223)x3	PTPRN2	Copy number gain	not provided	GLikely benign
Select item 788297	NM_002847.5(PTPRN2):c.2433G>A (p.Pro811=)	LOC126860255, PTPRN2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 765012	NM_002847.5(PTPRN2):c.2427C>T (p.His809=)	LOC126860255, PTPRN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 741563	NM_002847.5(PTPRN2):c.2445G>A (p.Ala815=)	LOC126860255, PTPRN2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 688384	GRCh37/hg19 7q36.3(chr7:157826344-158385584)x1	PTPRN2	Copy number loss	not provided	GUncertain significance
Select item 688375	GRCh37/hg19 7q36.3(chr7:157826344-158385584)x1	PTPRN2	Copy number loss	not provided	GUncertain significance
Select item 685190	GRCh37/hg19 7q36.3(chr7:157678840-157935822)x3	PTPRN2	Copy number gain	not provided	GUncertain significance
Select item 638107	GRCh37/hg19 7q36.3(chr7:158015301-158350293)x1	PTPRN2	Copy number loss	See cases	GUncertain significance
Select item 563349	GRCh37/hg19 7q36.3(chr7:157277827-157663061)x3	PTPRN2	Copy number gain	not provided	GLikely benign
Select item 563339	GRCh37/hg19 7q36.3(chr7:157720578-158051806)x3	PTPRN2	Copy number gain	not provided	GUncertain significance
Select item 563323	GRCh37/hg19 7q36.3(chr7:157883639-158136164)x3	PTPRN2	Copy number gain	not provided	GLikely benign
Select item 563297	GRCh37/hg19 7q36.3(chr7:157901106-158011098)x1	PTPRN2	Copy number loss	not provided	GUncertain significance
Select item 443711	GRCh37/hg19 7q36.3(chr7:157860066-158385584)x3	PTPRN2	Copy number gain	See cases	GLikely benign
Select item 442842	GRCh37/hg19 7q36.3(chr7:158100043-158310814)x1	PTPRN2	Copy number loss	See cases	GUncertain significance
Select item 395135	GRCh37/hg19 7q36.3(chr7:157875046-158364421)x3	PTPRN2	Copy number gain	See cases	GLikely benign
Select item 226184	GRCh37/hg19 7q36.3(chr7:157730598-157826278)	PTPRN2	Copy number gain	Abnormal esophagus morphology	GBenign
Select item 161601	NM_002847.5(PTPRN2):c.2339T>C (p.Leu780Pro)	PTPRN2 (L780P +4 more)	Single nucleotide variant (missense variant)	Malignant tumor of prostate	GUncertain significance

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Links from Gene

Items: 23