"Ocular Genomics Institute, Massachusetts Eye and Ear"[submitter] AND - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 852972	NM_152443.3(RDH12):c.139G>A (p.Ala47Thr)	GPHN, RDH12 (A47T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GPathogenic/Likely pathogenic
Select item 2049	NM_152443.3(RDH12):c.146C>T (p.Thr49Met)	GPHN, RDH12 (T49M)	Single nucleotide variant (missense variant)	not provided +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 +2 more	GPathogenic/Likely pathogenic
Select item 2050	NM_152443.3(RDH12):c.184C>T (p.Arg62Ter)	GPHN, RDH12 (R62*)	Single nucleotide variant (nonsense)	Retinal dystrophy +3 more	GPathogenic
Select item 805923	NM_152443.3(RDH12):c.185G>T (p.Arg62Leu)	GPHN, RDH12 (R62L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GConflicting classifications of pathogenicity
Select item 1065722	NM_152443.3(RDH12):c.193C>T (p.Arg65Ter)	GPHN, RDH12 (R65*)	Single nucleotide variant (nonsense)	Leber congenital amaurosis 13	GPathogenic/Likely pathogenic
Select item 805927	NM_152443.3(RDH12):c.194G>A (p.Arg65Gln)	GPHN, RDH12 (R65Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GUncertain significance
Select item 805929	NM_152443.3(RDH12):c.215A>G (p.Asp72Gly)	GPHN, RDH12 (D72G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 2055	NM_152443.3(RDH12):c.295C>A (p.Leu99Ile)	GPHN, RDH12 (L99I)	Single nucleotide variant (missense variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 805930	NM_152443.3(RDH12):c.362T>C (p.Ile121Thr)	RDH12, GPHN (I121T)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 805925	NM_152443.3(RDH12):c.440A>C (p.Asn147Thr)	GPHN, RDH12 (N147T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 623219	NM_152443.3(RDH12):c.506G>A (p.Arg169Gln)	GPHN, RDH12 (R169Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
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 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 805926	NM_152443.3(RDH12):c.697G>A (p.Val233Ile)	GPHN, RDH12 +1 more (V233I)	Single nucleotide variant (missense variant)	Macular dystrophy	GPathogenic
Select item 313842	NM_152443.3(RDH12):c.701G>A (p.Arg234His)	ZFYVE26, GPHN +1 more (R234H)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +4 more	GConflicting classifications of pathogenicity
Select item 2047	NM_152443.3(RDH12):c.806_810del (p.Ala269fs)	GPHN, RDH12 +1 more (A269fs)	Deletion (frameshift variant)	RDH12-Related Disorders +3 more	GPathogenic
Select item 805922	NM_152443.3(RDH12):c.844T>G (p.Phe282Val)	RDH12, ZFYVE26 +1 more (F282V)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 655601	NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)	GPHN, RDH12 +1 more (R295*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic