"Sharon lab, Hadassah-Hebrew University Medical Center"[submitter] AND - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 812437	NM_003322.6(TULP1):c.1495+2dup	TULP1	Duplication (splice donor variant)	not provided	GPathogenic
Select item 812438	NM_003322.6(TULP1):c.1349G>A (p.Trp450Ter)	TULP1 (W450* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 812439	NM_003322.6(TULP1):c.1301G>A (p.Arg434Lys)	TULP1 (R381K +1 more)	Single nucleotide variant (missense variant)	Retinitis pigmentosa	GPathogenic
Select item 812440	NM_003322.6(TULP1):c.1047T>G (p.Asn349Lys)	TULP1 (N296K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 812441	NM_003322.6(TULP1):c.832_833insTCCC (p.Glu278fs)	TULP1 (E225fs +1 more)	Insertion (frameshift variant)	Leber congenital amaurosis	GPathogenic
Select item 812442	NM_003322.6(TULP1):c.781_782insCTCC (p.Lys261fs)	TULP1 (K261fs +1 more)	Insertion (frameshift variant)	Leber congenital amaurosis	GPathogenic
Select item 812443	NM_003322.6(TULP1):c.528_529insT (p.Lys177Ter)	TULP1 (K124* +1 more)	Insertion (nonsense)	Leber congenital amaurosis	GPathogenic

ClinVar