"Laboratory of Genetics in Ophthalmology, Institut Imagine"[submitter] - ClinVar

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Items: 27

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 977812	NM_152443.3(RDH12):c.38C>A (p.Ser13Ter)	GPHN, RDH12 (S13*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 13	GPathogenic
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 2057	NM_152443.3(RDH12):c.152T>A (p.Ile51Asn)	GPHN, RDH12 (I51N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 2050	NM_152443.3(RDH12):c.184C>T (p.Arg62Ter)	GPHN, RDH12 (R62*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 13 +3 more	GPathogenic
Select item 977813	NM_152443.3(RDH12):c.238G>C (p.Ala80Pro)	GPHN, RDH12 (A80P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 488802	NM_152443.3(RDH12):c.250C>T (p.Arg84Ter)	RDH12, GPHN (R84*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 13 +1 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 2051	NM_152443.3(RDH12):c.379G>T (p.Gly127Ter)	GPHN, RDH12 (G127*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 977808	NM_152443.3(RDH12):c.429_432delinsGGT (p.His143fs)	GPHN, RDH12 (H143fs)	Indel (frameshift variant)	Leber congenital amaurosis 13	GPathogenic
Select item 977809	NM_152443.3(RDH12):c.448+1G>A	GPHN, RDH12	Single nucleotide variant (splice donor variant)	Leber congenital amaurosis 13	GPathogenic
Select item 2054	NM_152443.3(RDH12):c.451C>G (p.His151Asp)	GPHN, RDH12 (H151D)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic
Select item 2052	NM_152443.3(RDH12):c.451C>A (p.His151Asn)	RDH12, GPHN (H151N)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GPathogenic
Select item 2059	NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)	GPHN, RDH12 (T155I)	Single nucleotide variant (missense variant)	not provided +4 more	GPathogenic
Select item 2056	NM_152443.3(RDH12):c.523T>C (p.Ser175Pro)	GPHN, RDH12 (S175P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GPathogenic
Select item 559527	NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)	GPHN, RDH12 (S175L)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 867114	NM_152443.3(RDH12):c.599A>G (p.Tyr200Cys)	GPHN, RDH12 (Y200C)	Single nucleotide variant (missense variant)	Retinal dystrophy	GPathogenic
Select item 805924	NM_152443.3(RDH12):c.619A>G (p.Asn207Asp)	GPHN, RDH12 (N207D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	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 977810	NM_152443.3(RDH12):c.659-2A>T	GPHN, RDH12 +1 more	Single nucleotide variant (splice acceptor variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 2046	NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys)	GPHN, RDH12 +1 more (Y226C)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 2053	NM_152443.3(RDH12):c.688C>G (p.Pro230Ala)	RDH12, ZFYVE26 +1 more (P230A)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GPathogenic
Select item 977811	NM_152443.3(RDH12):c.716G>A (p.Arg239Gln)	GPHN, RDH12 +1 more (R239Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 977814	NM_152443.3(RDH12):c.759dup (p.Phe254fs)	GPHN, RDH12 +1 more (F254fs)	Duplication (frameshift variant)	Abnormality of the eye	GLikely pathogenic
Select item 977815	NM_152443.3(RDH12):c.805G>C (p.Ala269Pro)	GPHN, RDH12 +1 more (A269P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GLikely pathogenic
Select item 2047	NM_152443.3(RDH12):c.806_810del (p.Ala269fs)	GPHN, RDH12 +1 more (A269fs)	Deletion (frameshift variant)	RDH12-related disorder +3 more	GPathogenic
Select item 655601	NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)	ZFYVE26, GPHN +1 more (R295*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 977816	NM_152443.3(RDH12):c.932T>C (p.Leu311Pro)	GPHN, RDH12 +1 more (L311P)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GLikely pathogenic

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Items: 27