"Centre for Mendelian Genomics, University Medical Centre Ljubljana"[s - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 930614	NM_006767.4(LZTR1):c.401-2_401-1del	LZTR1	Deletion (splice acceptor variant)	not provided +4 more	GPathogenic/Likely pathogenic
Select item 917683	NM_006767.4(LZTR1):c.578A>G (p.Tyr193Cys)	LZTR1 (Y193C)	Single nucleotide variant (missense variant)	not specified +2 more	GUncertain significance
Select item 930572	NM_006767.4(LZTR1):c.1556_1560dup (p.Phe521fs)	LZTR1 (F521fs)	Microsatellite (frameshift variant)	Schwannomatosis 2	GLikely pathogenic
Select item 561963	NM_006767.4(LZTR1):c.1889G>A (p.Arg630Gln)	LZTR1 (R630Q)	Single nucleotide variant (missense variant)	LZTR1-related disorder +4 more	GUncertain significance
Select item 523275	GRCh37/hg19 22q11.21(chr22:21081260-21431174)	SNAP29, THAP7 +7 more	Copy number gain	Delayed speech and language development +8 more	GUncertain significance
Select item 523274	GRCh37/hg19 22q11.21(chr22:18894835-21505417)	SLC7A4, SNAP29 +45 more	Copy number loss	Intellectual disability, mild +13 more	GPathogenic

ClinVar