"Genome-Nilou Lab"[submitter] AND "RP1L1"[gene] - ClinVar

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Items: 20

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 361209	NM_178857.6(RP1L1):c.6853G>A (p.Gly2285Arg)	RP1L1 (G2285R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +3 more	GBenign
Select item 361212	NM_178857.6(RP1L1):c.6723A>G (p.Ser2241=)	RP1L1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 88 +3 more	GBenign
Select item 361222	NM_178857.6(RP1L1):c.6511G>A (p.Glu2171Lys)	RP1L1 (E2171K)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GBenign
Select item 361223	NM_178857.6(RP1L1):c.6418G>A (p.Glu2140Lys)	RP1L1 (E2140K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +2 more	GBenign
Select item 361228	NM_178857.6(RP1L1):c.6264G>T (p.Gln2088His)	RP1L1 (Q2088H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +3 more	GBenign
Select item 361229	NM_178857.6(RP1L1):c.6209A>T (p.Glu2070Val)	RP1L1 (E2070V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +3 more	GBenign
Select item 361235	NM_178857.6(RP1L1):c.5860A>G (p.Thr1954Ala)	RP1L1 (T1954A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +3 more	GBenign
Select item 361236	NM_178857.6(RP1L1):c.5837C>A (p.Ala1946Glu)	RP1L1 (A1946E)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +2 more	GBenign
Select item 361242	NM_178857.6(RP1L1):c.5666A>T (p.Asp1889Val)	RP1L1 (D1889V)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +2 more	GBenign
Select item 361276	NM_178857.6(RP1L1):c.4484C>G (p.Pro1495Arg)	RP1L1 (P1495R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +3 more	GBenign
Select item 361282	NM_178857.6(RP1L1):c.4401G>T (p.Arg1467Ser)	RP1L1 (R1467S)	Single nucleotide variant (missense variant)	Occult macular dystrophy +2 more	GBenign
Select item 361288	NM_178857.6(RP1L1):c.4032A>G (p.Thr1344=)	RP1L1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 88 +2 more	GBenign
Select item 361297	NM_178857.6(RP1L1):c.3971A>G (p.Glu1324Gly)	RP1L1 (E1324G)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 361300	NM_178857.6(RP1L1):c.3956C>G (p.Ala1319Gly)	RP1L1 (A1319G)	Single nucleotide variant (missense variant)	Occult macular dystrophy +2 more	GBenign
Select item 361309	NM_178857.6(RP1L1):c.3436C>T (p.Arg1146Trp)	RP1L1 (R1146W)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +3 more	GBenign
Select item 361349	NM_178857.6(RP1L1):c.2375T>C (p.Leu792Pro)	RP1L1 (L792P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +3 more	GBenign
Select item 361367	NM_178857.6(RP1L1):c.1791C>T (p.Gly597=)	RP1L1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 88 +3 more	GBenign
Select item 361372	NM_178857.6(RP1L1):c.1540G>A (p.Gly514Ser)	RP1L1 (G514S)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 361399	NM_178857.6(RP1L1):c.665A>C (p.His222Pro)	RP1L1 (H222P)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 88 +3 more	GBenign
Select item 361401	NM_178857.6(RP1L1):c.610-13G>A	RP1L1	Single nucleotide variant (intron variant)	Retinitis pigmentosa 88 +2 more	GBenign

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Items: 20