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

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2049	NM_152443.3(RDH12):c.146C>T (p.Thr49Met)	GPHN, RDH12 (T49M)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +2 more	GPathogenic
Select item 805928	NM_152443.3(RDH12):c.164C>T (p.Thr55Met)	GPHN, RDH12 (T55M)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +2 more	GPathogenic/Likely pathogenic
Select item 2055	NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)	GPHN, RDH12 (L99I)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +3 more	GPathogenic/Likely pathogenic
Select item 2061	NM_152443.3(RDH12):c.377C>T (p.Ala126Val)	GPHN, RDH12 (A126V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +3 more	GConflicting classifications of pathogenicity
Select item 643541	NM_152443.3(RDH12):c.481C>T (p.Arg161Trp)	GPHN, RDH12 (R161W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GPathogenic/Likely pathogenic
Select item 2058	NM_152443.3(RDH12):c.658+1G>A	GPHN, RDH12	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 13	GPathogenic
Select item 536988	NM_152443.3(RDH12):c.716G>T (p.Arg239Leu)	GPHN, RDH12 +1 more (R239L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +2 more	GPathogenic/Likely pathogenic
Select item 812389	NM_152443.3(RDH12):c.759del (p.Phe254fs)	GPHN, RDH12 +1 more (F254fs)	Deletion (frameshift variant)	Leber congenital amaurosis 13 +1 more	GPathogenic/Likely pathogenic
Select item 812390	NM_152443.3(RDH12):c.821T>C (p.Leu274Pro)	ZFYVE26, GPHN +1 more (L274P)	Single nucleotide variant (missense variant)	not provided	GPathogenic