"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PLS3"[gene - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2571376	NM_005032.7(PLS3):c.748+1G>A	PLS3	Single nucleotide variant (splice donor variant)	not provided	GPathogenic
Select item 1335789	NM_005032.7(PLS3):c.766C>T (p.Arg256Ter)	PLS3 (R211* +3 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1592060	NM_005032.7(PLS3):c.1050A>G (p.Arg350=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 1176952	NM_005032.7(PLS3):c.1118T>C (p.Leu373Pro)	PLS3 (L328P +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2661253	NM_005032.7(PLS3):c.1209C>G (p.Phe403Leu)	PLS3 (F358L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 754487	NM_005032.7(PLS3):c.1380A>G (p.Leu460=)	PLS3	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 3024654	GRCh37/hg19 Xq12-28(chrX:67292994-155240074)x3	ALG13, AMMECR1 +488 more	Copy number gain	not provided	GPathogenic
Select item 425520	GRCh37/hg19 Xp22.2-q25(chrX:11692290-121187337)x2	AWAT2, BCLAF3 +568 more	Copy number gain	not provided	GUncertain significance

ClinVar