"PreventionGenetics, part of Exact Sciences"[submitter] AND "RP1L1"[ge - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 361204	NM_178857.6(RP1L1):c.7047T>C (p.Thr2349=)	RP1L1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 3050408	NM_178857.6(RP1L1):c.6954T>C (p.His2318=)	RP1L1	Single nucleotide variant (synonymous variant)	RP1L1-related disorder	GLikely benign
Select item 374603	NM_178857.6(RP1L1):c.5452G>A (p.Ala1818Thr)	RP1L1 (A1818T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3057615	NM_178857.6(RP1L1):c.5316A>G (p.Arg1772=)	RP1L1	Single nucleotide variant (synonymous variant)	RP1L1-related disorder	GLikely benign
Select item 3045902	NM_178857.6(RP1L1):c.5154G>A (p.Thr1718=)	RP1L1	Single nucleotide variant (synonymous variant)	RP1L1-related disorder	GLikely benign
Select item 3027972	NM_178857.6(RP1L1):c.5145G>A (p.Thr1715=)	RP1L1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2658388	NM_178857.6(RP1L1):c.5124G>A (p.Val1708=)	RP1L1	Single nucleotide variant (synonymous variant)	RP1L1-related disorder +1 more	GBenign/Likely benign
Select item 361261	NM_178857.6(RP1L1):c.4906G>A (p.Glu1636Lys)	RP1L1 (E1636K)	Single nucleotide variant (missense variant)	RP1L1-related disorder +2 more	GBenign/Likely benign
Select item 361267	NM_178857.6(RP1L1):c.4746G>A (p.Arg1582=)	RP1L1	Single nucleotide variant (synonymous variant)	RP1L1-related disorder +1 more	GLikely benign
Select item 3027987	NM_178857.6(RP1L1):c.4560C>T (p.Ser1520=)	RP1L1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 3027988	NM_178857.6(RP1L1):c.4515G>A (p.Ser1505=)	RP1L1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 361275	NM_178857.6(RP1L1):c.4514C>T (p.Ser1505Leu)	RP1L1 (S1505L)	Single nucleotide variant (missense variant)	Occult macular dystrophy +1 more	GBenign/Likely benign
Select item 361280	NM_178857.6(RP1L1):c.4444G>A (p.Gly1482Arg)	RP1L1 (G1482R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GBenign/Likely benign
Select item 361284	NM_178857.6(RP1L1):c.4275C>A (p.Asp1425Glu)	RP1L1 (D1425E)	Single nucleotide variant (missense variant)	RP1L1-related disorder +1 more	GBenign/Likely benign
Select item 3049504	NM_178857.6(RP1L1):c.4218C>T (p.His1406=)	RP1L1	Single nucleotide variant (synonymous variant)	RP1L1-related disorder	GLikely benign
Select item 3052908	NM_178857.6(RP1L1):c.3855G>A (p.Ala1285=)	RP1L1	Single nucleotide variant (synonymous variant)	RP1L1-related disorder	GLikely benign
Select item 3040426	NM_178857.6(RP1L1):c.3618C>T (p.Gly1206=)	RP1L1	Single nucleotide variant (synonymous variant)	RP1L1-related disorder	GLikely benign
Select item 3058413	NM_178857.6(RP1L1):c.3615C>T (p.Ser1205=)	RP1L1	Single nucleotide variant (synonymous variant)	RP1L1-related disorder	GLikely benign
Select item 3028002	NM_178857.6(RP1L1):c.3582G>A (p.Thr1194=)	RP1L1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 3033848	NM_178857.6(RP1L1):c.3457A>C (p.Ile1153Leu)	RP1L1 (I1153L)	Single nucleotide variant (missense variant)	RP1L1-related disorder	GLikely benign
Select item 361314	NM_178857.6(RP1L1):c.3303C>T (p.Pro1101=)	RP1L1	Single nucleotide variant (synonymous variant)	RP1L1-related disorder +1 more	GLikely benign
Select item 2367343	NM_178857.6(RP1L1):c.3235G>A (p.Val1079Met)	RP1L1 (V1079M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 361318	NM_178857.6(RP1L1):c.3231C>G (p.Gly1077=)	RP1L1	Single nucleotide variant (synonymous variant)	RP1L1-related disorder +1 more	GBenign/Likely benign
Select item 361319	NM_178857.6(RP1L1):c.3201C>T (p.Gly1067=)	RP1L1	Single nucleotide variant (synonymous variant)	RP1L1-related disorder +2 more	GBenign/Likely benign
Select item 3040618	NM_178857.6(RP1L1):c.3147G>A (p.Glu1049=)	RP1L1	Single nucleotide variant (synonymous variant)	RP1L1-related disorder	GLikely benign
Select item 908484	NM_178857.6(RP1L1):c.3067G>C (p.Glu1023Gln)	RP1L1 (E1023Q)	Single nucleotide variant (missense variant)	RP1L1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 361328	NM_178857.6(RP1L1):c.2923T>A (p.Leu975Met)	RP1L1 (L975M)	Single nucleotide variant (missense variant)	RP1L1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 2629277	NM_178857.6(RP1L1):c.2915C>T (p.Thr972Ile)	RP1L1 (T972I)	Single nucleotide variant (missense variant)	RP1L1-related disorder	GUncertain significance
Select item 361330	NM_178857.6(RP1L1):c.2899G>A (p.Glu967Lys)	RP1L1 (E967K)	Single nucleotide variant (missense variant)	RP1L1-related disorder +2 more	GBenign/Likely benign
Select item 361333	NM_178857.6(RP1L1):c.2791G>C (p.Gly931Arg)	RP1L1 (G931R)	Single nucleotide variant (missense variant)	Occult macular dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 908551	NM_178857.6(RP1L1):c.2629C>T (p.His877Tyr)	RP1L1 (H877Y)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GLikely benign
Select item 361343	NM_178857.6(RP1L1):c.2469C>T (p.Ser823=)	RP1L1	Single nucleotide variant (synonymous variant)	RP1L1-related disorder +1 more	GLikely benign
Select item 361348	NM_178857.6(RP1L1):c.2383G>A (p.Glu795Lys)	RP1L1 (E795K)	Single nucleotide variant (missense variant)	RP1L1-related disorder +1 more	GLikely benign
Select item 361350	NM_178857.6(RP1L1):c.2365G>A (p.Ala789Thr)	RP1L1 (A789T)	Single nucleotide variant (missense variant)	RP1L1-related disorder +1 more	GBenign/Likely benign
Select item 3058239	NM_178857.6(RP1L1):c.1872C>G (p.Ala624=)	RP1L1	Single nucleotide variant (synonymous variant)	RP1L1-related disorder	GLikely benign
Select item 3035304	NM_178857.6(RP1L1):c.1707C>T (p.Ser569=)	RP1L1	Single nucleotide variant (synonymous variant)	RP1L1-related disorder	GLikely benign
Select item 3034051	NM_178857.6(RP1L1):c.1683C>T (p.Ala561=)	RP1L1	Single nucleotide variant (synonymous variant)	RP1L1-related disorder	GLikely benign
Select item 361369	NM_178857.6(RP1L1):c.1599G>A (p.Ser533=)	RP1L1	Single nucleotide variant (synonymous variant)	RP1L1-related disorder +2 more	GBenign/Likely benign
Select item 3028043	NM_178857.6(RP1L1):c.1491G>C (p.Gly497=)	RP1L1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GBenign/Likely benign
Select item 2629381	NM_178857.6(RP1L1):c.1215T>G (p.Tyr405Ter)	RP1L1 (Y405*)	Single nucleotide variant (nonsense)	RP1L1-related disorder	GLikely pathogenic
Select item 361383	NM_178857.6(RP1L1):c.1138G>A (p.Gly380Arg)	RP1L1 (G380R)	Single nucleotide variant (missense variant)	RP1L1-related disorder +2 more	GBenign/Likely benign
Select item 865772	NM_178857.6(RP1L1):c.1107G>A (p.Trp369Ter)	RP1L1 (W369*)	Single nucleotide variant (nonsense)	RP1L1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 3043350	NM_178857.6(RP1L1):c.900G>A (p.Ser300=)	RP1L1	Single nucleotide variant (synonymous variant)	RP1L1-related disorder	GLikely benign
Select item 96555	NM_178857.6(RP1L1):c.899C>T (p.Ser300Leu)	RP1L1 (S300L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2367481	NM_178857.6(RP1L1):c.857G>T (p.Gly286Val)	RP1L1 (G286V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2500520	NM_178857.6(RP1L1):c.803C>A (p.Pro268Gln)	RP1L1 (P268Q)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2633017	NM_178857.6(RP1L1):c.796_797insTT (p.Ser266fs)	RP1L1 (S266fs)	Insertion (frameshift variant)	RP1L1-related disorder	GLikely pathogenic
Select item 361394	NM_178857.6(RP1L1):c.793C>G (p.Arg265Gly)	RP1L1 (R265G)	Single nucleotide variant (missense variant)	RP1L1-related disorder +1 more	GBenign/Likely benign
Select item 96554	NM_178857.6(RP1L1):c.652G>T (p.Val218Leu)	RP1L1 (V218L)	Single nucleotide variant (missense variant)	RP1L1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 361400	NM_178857.6(RP1L1):c.622C>A (p.Gln208Lys)	RP1L1 (Q208K)	Single nucleotide variant (missense variant)	RP1L1-related disorder +3 more	GBenign/Likely benign
Select item 785872	NM_178857.6(RP1L1):c.594G>A (p.Thr198=)	RP1L1	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 724148	NM_178857.6(RP1L1):c.523A>G (p.Thr175Ala)	RP1L1 (T175A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1572831	NM_178857.6(RP1L1):c.498G>A (p.Gln166=)	RP1L1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 624313	NM_178857.6(RP1L1):c.326_327insT (p.Lys111fs)	RP1L1 (K111fs)	Insertion (frameshift variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 911778	NM_178857.6(RP1L1):c.292G>A (p.Asp98Asn)	RP1L1 (D98N)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 361422	NM_178857.6(RP1L1):c.217C>T (p.Pro73Ser)	RP1L1 (P73S)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 908816	NM_178857.6(RP1L1):c.198C>T (p.Asp66=)	RP1L1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
Select item 1535319	NM_178857.6(RP1L1):c.189C>T (p.Ala63=)	RP1L1	Single nucleotide variant (synonymous variant)	RP1L1-related disorder +1 more	GLikely benign
Select item 909667	NM_178857.6(RP1L1):c.156C>T (p.Ala52=)	RP1L1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GBenign/Likely benign

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Items: 59