"Invitae"[submitter] AND "PTPN21"[gene] - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 645863	NC_000014.8:g.(?_88852143)_(89343774_?)dup	EML5, LOC129390658 +13 more	Duplication	Bardet-Biedl syndrome	GUncertain significance
Select item 768670	NM_007039.4(PTPN21):c.3296G>A (p.Ser1099Asn)	PTPN21, SPATA7 (S1099N)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 734851	NM_007039.4(PTPN21):c.2356C>G (p.Pro786Ala)	PTPN21 (P786A)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 768671	NM_007039.4(PTPN21):c.2262C>T (p.Pro754=)	PTPN21	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 768672	NM_007039.4(PTPN21):c.1800C>G (p.His600Gln)	PTPN21 (H600Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2426470	NC_000014.8:g.(?_88391407)_(89343754_?)dup	EML5, GALC +6 more	Duplication	Leber congenital amaurosis 3	GUncertain significance

ClinVar