Related gene-specific medical variations for Gene (Select 5795) - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3428102	NM_002843.4(PTPRJ):c.64C>T (p.Pro22Ser)	LOC130005691, PTPRJ (P22S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3428098	NM_002843.4(PTPRJ):c.19G>A (p.Glu7Lys)	LOC130005691, PTPRJ (E7K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3352648	NM_002843.4(PTPRJ):c.68TGC[5] (p.Leu28del)	LOC130005691, PTPRJ (L28del)	Microsatellite (inframe_deletion)	PTPRJ-related disorder	GLikely benign
Select item 3149460	NM_002843.4(PTPRJ):c.8C>T (p.Pro3Leu)	LOC130005691, PTPRJ (P3L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2634057	NM_002843.4(PTPRJ):c.68TGC[7] (p.Leu28_Arg29insLeu)	LOC130005691, PTPRJ	Microsatellite (inframe_insertion)	PTPRJ-related disorder	GUncertain significance
Select item 2316362	NM_002843.4(PTPRJ):c.85C>T (p.Arg29Cys)	LOC130005691, PTPRJ (R29C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 973597	GRCh37/hg19 11p11.2(chr11:47997461-48142707)x3	PTPRJ	Copy number gain	Aortic valve stenosis	GUncertain significance

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