"Blueprint Genetics"[submitter] AND "RP1L1"[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 867179	NM_178857.6(RP1L1):c.6856G>C (p.Asp2286His)	RP1L1 (D2286H)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866214	NM_178857.6(RP1L1):c.4663C>A (p.Gln1555Lys)	RP1L1 (Q1555K)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 866195	NM_178857.6(RP1L1):c.4342G>A (p.Glu1448Lys)	RP1L1 (E1448K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866832	NM_178857.6(RP1L1):c.3980C>A (p.Thr1327Lys)	RP1L1 (T1327K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 867033	NM_178857.6(RP1L1):c.3695T>G (p.Leu1232Arg)	RP1L1 (L1232R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866154	NM_178857.6(RP1L1):c.3642C>A (p.Ser1214Arg)	RP1L1 (S1214R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866263	NM_178857.6(RP1L1):c.3595T>G (p.Ser1199Ala)	RP1L1 (S1199A)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 867007	NM_178857.6(RP1L1):c.3592T>G (p.Ser1198Ala)	RP1L1 (S1198A)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866349	NM_178857.6(RP1L1):c.3413_3414del (p.Lys1138fs)	RP1L1 (K1138fs)	Deletion (frameshift variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 866102	NM_178857.6(RP1L1):c.3217C>T (p.Arg1073Trp)	RP1L1 (R1073W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2194	NM_178857.6(RP1L1):c.2878T>C (p.Trp960Arg)	RP1L1 (W960R)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 361332	NM_178857.6(RP1L1):c.2845C>T (p.Pro949Ser)	RP1L1 (P949S)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GUncertain significance
Select item 866989	NM_178857.6(RP1L1):c.2480C>G (p.Ser827Ter)	RP1L1 (S827*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 866176	NM_178857.6(RP1L1):c.2053_2056del (p.Gln685fs)	RP1L1 (Q685fs)	Microsatellite (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866831	NM_178857.6(RP1L1):c.2005C>A (p.His669Asn)	RP1L1 (H669N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 143164	NM_178857.6(RP1L1):c.1972C>T (p.Arg658Ter)	RP1L1 (R658*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GConflicting classifications of pathogenicity
Select item 865873	NM_178857.6(RP1L1):c.1850G>T (p.Cys617Phe)	RP1L1 (C617F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 493471	NM_178857.6(RP1L1):c.1762G>T (p.Asp588Tyr)	RP1L1 (D588Y)	Single nucleotide variant (missense variant)	Occult macular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 867066	NM_178857.6(RP1L1):c.1451del (p.Ser484fs)	RP1L1 (S484fs)	Deletion (frameshift variant)	Retinitis pigmentosa 88 +1 more	GPathogenic/Likely pathogenic
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 865772	NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter)	RP1L1 (W369*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 866341	NM_178857.6(RP1L1):c.1025G>A (p.Arg342Lys)	RP1L1 (R342K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 867190	NM_178857.6(RP1L1):c.955G>A (p.Gly319Ser)	RP1L1 (G319S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 866684	NM_178857.6(RP1L1):c.831del (p.Arg277fs)	RP1L1 (R277fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 866377	NM_178857.6(RP1L1):c.601G>A (p.Gly201Arg)	RP1L1 (G201R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 866221	NM_178857.6(RP1L1):c.424TCC[4] (p.Ser144dup)	RP1L1	Microsatellite (inframe_insertion)	Retinal dystrophy	GUncertain significance
Select item 866442	NM_178857.6(RP1L1):c.332del (p.Lys111fs)	RP1L1 (K111fs)	Deletion (frameshift variant)	not provided +1 more	GUncertain significance
Select item 866378	NM_178857.6(RP1L1):c.211C>T (p.Arg71Cys)	RP1L1 (R71C)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 2193	NM_178857.6(RP1L1):c.133C>T (p.Arg45Trp)	RP1L1 (R45W)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 866287	NM_178857.6(RP1L1):c.32C>G (p.Pro11Arg)	RP1L1 (P11R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance

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Items: 30