"Blueprint Genetics"[submitter] AND "GPHN"[gene] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 203385	NM_152443.3(RDH12):c.63_66del (p.Ile22fs)	GPHN, RDH12 (I22fs)	Microsatellite (frameshift variant)	Leber congenital amaurosis 13 +2 more	GPathogenic/Likely pathogenic
Select item 866752	NM_152443.3(RDH12):c.85G>A (p.Gly29Arg)	GPHN, RDH12 (G29R)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +2 more	GUncertain significance
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 197878	NM_152443.3(RDH12):c.210dup (p.Arg71fs)	GPHN, RDH12 (R71fs)	Duplication (frameshift variant)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 866465	NM_152443.3(RDH12):c.216T>G (p.Asp72Glu)	GPHN, RDH12 (D72E)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GUncertain significance
Select item 867107	NM_152443.3(RDH12):c.284G>A (p.Arg95Gln)	GPHN, RDH12 (R95Q)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
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 805925	NM_152443.3(RDH12):c.440A>C (p.Asn147Thr)	GPHN, RDH12 (N147T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866614	NM_152443.3(RDH12):c.446T>C (p.Leu149Pro)	GPHN, RDH12 (L149P)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 866945	NM_152443.3(RDH12):c.505C>T (p.Arg169Trp)	GPHN, RDH12 (R169W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +2 more	GPathogenic/Likely pathogenic
Select item 623219	NM_152443.3(RDH12):c.506G>A (p.Arg169Gln)	GPHN, RDH12 (R169Q)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +2 more	GPathogenic/Likely pathogenic
Select item 866454	NM_152443.3(RDH12):c.560A>G (p.Asp187Gly)	GPHN, RDH12 (D187G)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GUncertain significance
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 866060	NM_152443.3(RDH12):c.601T>C (p.Cys201Arg)	GPHN, RDH12 (C201R)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 867045	NM_152443.3(RDH12):c.671C>T (p.Thr224Ile)	GPHN, RDH12 +1 more (T224I)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 2046	NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys)	GPHN, RDH12 +1 more (Y226C)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 866751	NM_152443.3(RDH12):c.697G>C (p.Val233Leu)	GPHN, RDH12 +1 more (V233L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GPathogenic/Likely pathogenic
Select item 865754	NM_152443.3(RDH12):c.715dup (p.Arg239fs)	GPHN, RDH12 +1 more (R239fs)	Duplication (frameshift variant)	Leber congenital amaurosis 13 +1 more	GPathogenic
Select item 865997	NM_152443.3(RDH12):c.715C>T (p.Arg239Trp)	GPHN, RDH12 +1 more (R239W)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +1 more	GPathogenic/Likely pathogenic
Select item 844175	NM_152443.3(RDH12):c.749T>C (p.Leu250Pro)	GPHN, RDH12 +1 more (L250P)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 143163	NM_152443.3(RDH12):c.778del (p.Glu260fs)	GPHN, RDH12 +1 more (E260fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GPathogenic
Select item 836061	NM_152443.3(RDH12):c.794G>C (p.Ser265Thr)	GPHN, RDH12 +1 more (S265T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2047	NM_152443.3(RDH12):c.806_810del (p.Ala269fs)	GPHN, RDH12 +1 more (A269fs)	Deletion (frameshift variant)	RDH12-related disorder +4 more	GPathogenic
Select item 767105	NM_152443.3(RDH12):c.806C>G (p.Ala269Gly)	GPHN, RDH12 +1 more (A269G)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 285209	NM_152443.3(RDH12):c.869T>G (p.Val290Gly)	GPHN, RDH12 +1 more (V290G)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 655601	NM_152443.3(RDH12):c.883C>T (p.Arg295Ter)	GPHN, RDH12 +1 more (R295*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 867080	NM_152443.3(RDH12):c.895A>C (p.Thr299Pro)	GPHN, RDH12 +1 more (T299P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance

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Items: 28