"GeneDx"[submitter] AND "RP1"[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 363277	NM_006269.2(RP1):c.74G>A (p.Arg25His)	RP1 (R25H)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 958417	NM_006269.2(RP1):c.139dup (p.Gln47fs)	RP1 (Q47fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 839385	NM_006269.2(RP1):c.172C>T (p.Arg58Cys)	RP1 (R58C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 426253	NM_006269.2(RP1):c.281G>A (p.Arg94His)	RP1 (R94H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1004901	NM_006269.2(RP1):c.320C>A (p.Ser107Tyr)	RP1 (S107Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1308451	NM_006269.2(RP1):c.402C>G (p.Ser134Arg)	RP1 (S134R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 862472	NM_006269.2(RP1):c.668del (p.Gly223fs)	RP1 (G223fs)	Deletion (frameshift variant)	Retinitis pigmentosa 1 +2 more	GPathogenic/Likely pathogenic
Select item 1421968	NM_006269.2(RP1):c.941C>G (p.Pro314Arg)	RP1 (P314R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 5970	NM_006269.2(RP1):c.1118C>T (p.Thr373Ile)	RP1 (T373I)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 143134	NM_006269.2(RP1):c.1186C>T (p.Arg396Ter)	RP1 (R396*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 1310456	NM_006269.2(RP1):c.1601A>G (p.Lys534Arg)	RP1 (K534R)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 620129	NM_006269.2(RP1):c.1625C>G (p.Ser542Ter)	RP1 (S542*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa +1 more	GPathogenic
Select item 191341	NM_006269.2(RP1):c.1719_1723del (p.Ser574fs)	RP1 (S574fs)	Deletion (frameshift variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 426264	NM_006269.2(RP1):c.2011A>C (p.Lys671Gln)	RP1 (K671Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1459711	NM_006269.2(RP1):c.2025dup (p.Ser676fs)	RP1 (S676fs)	Duplication (frameshift variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 5965	NM_006269.2(RP1):c.2029C>T (p.Arg677Ter)	RP1 (R677*)	Single nucleotide variant (nonsense)	Retinal dystrophy +2 more	GPathogenic
Select item 5968	NM_006269.2(RP1):c.2035C>T (p.Gln679Ter)	RP1 (Q679*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 1 +1 more	GPathogenic/Likely pathogenic
Select item 812400	NM_006269.2(RP1):c.2167G>T (p.Gly723Ter)	RP1 (G723*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 437952	NM_006269.2(RP1):c.2219C>G (p.Ser740Ter)	RP1 (S740*)	Single nucleotide variant (nonsense)	Retinal dystrophy +1 more	GPathogenic/Likely pathogenic
Select item 620158	NM_006269.2(RP1):c.2296C>T (p.Gln766Ter)	RP1 (Q766*)	Single nucleotide variant (nonsense)	not provided	GPathogenic/Likely pathogenic
Select item 2136668	NM_006269.2(RP1):c.2391_2392del (p.Arg798_Asp799insTer)	RP1	Deletion (frameshift variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 391250	NM_006269.2(RP1):c.2570C>G (p.Ser857Ter)	RP1 (S857*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 423064	NM_006269.2(RP1):c.2769A>G (p.Ile923Met)	RP1 (I923M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5969	NM_006269.2(RP1):c.2953A>T (p.Asn985Tyr)	RP1 (N985Y)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 636198	NM_006269.2(RP1):c.3101A>T (p.His1034Leu)	RP1 (H1034L)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 281509	NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn)	RP1 (K1044N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 426263	NM_006269.2(RP1):c.4030T>C (p.Phe1344Leu)	RP1 (F1344L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 1478280	NM_006269.2(RP1):c.4175A>G (p.Asn1392Ser)	RP1 (N1392S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 426459	NM_006269.2(RP1):c.4193C>G (p.Ser1398Cys)	RP1 (S1398C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 450895	NM_006269.2(RP1):c.4564G>A (p.Gly1522Ser)	RP1 (G1522S)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 1076906	NM_006269.2(RP1):c.4582_4585del (p.Ile1528fs)	RP1 (I1528fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 636199	NM_006269.2(RP1):c.4642A>T (p.Ser1548Cys)	RP1 (S1548C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 432786	NM_006269.2(RP1):c.4663G>A (p.Gly1555Arg)	RP1 (G1555R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 426262	NM_006269.2(RP1):c.4970G>T (p.Cys1657Phe)	LOC126860392, RP1 (C1657F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 95355	NM_006269.2(RP1):c.5175A>G (p.Gln1725=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant)	Retinal dystrophy +4 more	GBenign
Select item 1310198	NM_006269.2(RP1):c.5332A>G (p.Asn1778Asp)	LOC126860392, RP1 (N1778D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 426622	NM_006269.2(RP1):c.5375C>G (p.Ala1792Gly)	LOC126860392, RP1 (A1792G)	Single nucleotide variant (missense variant)	not provided +3 more	GUncertain significance
Select item 432787	NM_006269.2(RP1):c.5509G>A (p.Val1837Ile)	LOC126860392, RP1 (V1837I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 372953	NM_006269.2(RP1):c.5639C>G (p.Pro1880Arg)	LOC126860392, RP1 (P1880R)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 143136	NM_006269.2(RP1):c.5797C>T (p.Arg1933Ter)	RP1, LOC126860392 (R1933*)	Single nucleotide variant (nonsense)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 523946	NM_006269.2(RP1):c.5962dup (p.Ile1988fs)	LOC126860392, RP1 (I1988fs)	Duplication (frameshift variant)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic
Select item 95357	NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr)	RP1 (C2033Y)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 1007617	NM_006269.2(RP1):c.6286T>A (p.Phe2096Ile)	RP1 (F2096I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1699738	NM_006269.2(RP1):c.6432_6439del (p.Leu2144fs)	RP1 (L2144fs)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance

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Items: 44