"Fulgent Genetics, Fulgent Genetics"[submitter] AND "RP1L1"[gene] - ClinVar - NCBI

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Items: 15

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 424192	NM_178857.6(RP1L1):c.5132G>C (p.Gly1711Ala)	RP1L1 (G1711A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 361277	NM_178857.6(RP1L1):c.4482A>G (p.Gln1494=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy +2 more	GBenign/Likely benign
Select item 1695222	NM_178857.6(RP1L1):c.3956_4003del (p.Ala1319_Glu1334del)	RP1L1	Deletion (inframe_deletion)	Occult macular dystrophy +2 more	GBenign/Likely benign
Select item 361301	NM_178857.6(RP1L1):c.3955G>A (p.Ala1319Thr)	RP1L1 (A1319T)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 361319	NM_178857.6(RP1L1):c.3201C>T (p.Gly1067=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy +2 more	GBenign/Likely benign
Select item 361342	NM_178857.6(RP1L1):c.2499G>A (p.Pro833=)	RP1L1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +2 more	GBenign/Likely benign
Select item 911642	NM_178857.6(RP1L1):c.1691C>G (p.Ser564Cys)	RP1L1 (S564C)	Single nucleotide variant (missense variant)	Occult macular dystrophy +2 more	GBenign/Likely benign
Select item 361373	NM_178857.6(RP1L1):c.1478G>A (p.Arg493Gln)	RP1L1 (R493Q)	Single nucleotide variant (missense variant)	Occult macular dystrophy +2 more	GBenign
Select item 865995	NM_178857.6(RP1L1):c.1189C>T (p.Arg397Ter)	RP1L1 (R397*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 361389	NM_178857.6(RP1L1):c.954C>T (p.Asp318=)	RP1L1	Single nucleotide variant (synonymous variant)	Occult macular dystrophy +2 more	GBenign/Likely benign
Select item 361392	NM_178857.6(RP1L1):c.844A>C (p.Asn282His)	RP1L1 (N282H)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 1211909	NM_178857.6(RP1L1):c.455G>A (p.Arg152Gln)	RP1L1 (R152Q)	Single nucleotide variant (missense variant)	Occult macular dystrophy +2 more	GUncertain significance
Select item 444739	NM_178857.6(RP1L1):c.449C>T (p.Thr150Ile)	RP1L1 (T150I)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GUncertain significance
Select item 361409	NM_178857.6(RP1L1):c.444T>G (p.Leu148=)	RP1L1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 1369583	NM_178857.6(RP1L1):c.202C>T (p.Leu68Phe)	RP1L1 (L68F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +2 more	GUncertain significance