"Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg"[subm - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248968	NM_016026.4(RDH11):c.284T>A (p.Leu95Ter)	GPHN, RDH11 (L95*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 1355117	NM_016026.4(RDH11):c.55A>G (p.Met19Val)	GPHN, RDH11 (M19V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3028279	NM_152443.3(RDH12):c.59C>T (p.Pro20Leu)	GPHN, RDH12 (P20L)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3248880	NM_152443.3(RDH12):c.68G>A (p.Arg23Lys)	GPHN, RDH12 (R23K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 2076398	NM_152443.3(RDH12):c.68+6T>A	GPHN, RDH12	Single nucleotide variant (intron variant)	Leber congenital amaurosis 13	GUncertain significance
Select item 3249852	NM_152443.3(RDH12):c.144C>A (p.Asn48Lys)	GPHN, RDH12 (N48K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GLikely pathogenic
Select item 2049	NM_152443.3(RDH12):c.146C>T (p.Thr49Met)	GPHN, RDH12 (T49M)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GPathogenic
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 805927	NM_152443.3(RDH12):c.194G>A (p.Arg65Gln)	GPHN, RDH12 (R65Q)	Single nucleotide variant (missense variant)	Optic atrophy +4 more	GUncertain significance
Select item 636078	NM_152443.3(RDH12):c.226G>T (p.Gly76Trp)	GPHN, RDH12 (G76W)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 488802	NM_152443.3(RDH12):c.250C>T (p.Arg84Ter)	GPHN, RDH12 (R84*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3248790	NM_152443.3(RDH12):c.284G>C (p.Arg95Pro)	GPHN, RDH12 (R95P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
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 197875	NM_152443.3(RDH12):c.317G>A (p.Arg106Gln)	GPHN, RDH12 (R106Q)	Single nucleotide variant (missense variant)	Retinitis Pigmentosa, Recessive +2 more	GUncertain significance
Select item 2040199	NM_152443.3(RDH12):c.378G>A (p.Ala126=)	GPHN, RDH12	Single nucleotide variant (synonymous variant)	Leber congenital amaurosis 13	GLikely benign
Select item 2051	NM_152443.3(RDH12):c.379G>T (p.Gly127Ter)	GPHN, RDH12 (G127*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic
Select item 3249068	NM_152443.3(RDH12):c.391T>C (p.Cys131Arg)	GPHN, RDH12 (C131R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3249393	NM_152443.3(RDH12):c.392G>C (p.Cys131Ser)	GPHN, RDH12 (C131S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 2054	NM_152443.3(RDH12):c.451C>G (p.His151Asp)	GPHN, RDH12 (H151D)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +2 more	GPathogenic
Select item 2059	NM_152443.3(RDH12):c.464C>T (p.Thr155Ile)	GPHN, RDH12 (T155I)	Single nucleotide variant (missense variant)	Retinal dystrophy +5 more	GPathogenic/Likely pathogenic
Select item 559527	NM_152443.3(RDH12):c.524C>T (p.Ser175Leu)	GPHN, RDH12 (S175L)	Single nucleotide variant (missense variant)	Leber congenital amaurosis 13 +3 more	GPathogenic/Likely pathogenic

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Items: 21