"Eurofins Ntd Llc (ga)"[submitter] AND "RP1"[gene] - ClinVar

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Items: 37

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 195262	NM_006269.2(RP1):c.205A>T (p.Asn69Tyr)	RP1 (N69Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 167601	NM_006269.2(RP1):c.228C>T (p.Leu76=)	RP1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 287294	NM_006269.2(RP1):c.382C>A (p.Leu128Ile)	RP1 (L128I)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 195261	NM_006269.2(RP1):c.515T>G (p.Leu172Arg)	RP1 (L172R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 196435	NM_006269.2(RP1):c.616-6T>C	RP1	Single nucleotide variant (intron variant)	not provided +3 more	GBenign/Likely benign
Select item 499576	NM_006269.2(RP1):c.820C>A (p.Gln274Lys)	RP1 (Q274K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 5970	NM_006269.2(RP1):c.1118C>T (p.Thr373Ile)	RP1 (T373I)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 95350	NM_006269.2(RP1):c.1568A>G (p.Asn523Ser)	RP1 (N523S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 596491	NM_006269.2(RP1):c.1989G>T (p.Lys663Asn)	RP1 (K663N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 597524	NM_006269.2(RP1):c.2245C>T (p.Leu749Phe)	RP1 (L749F)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 288339	NM_006269.2(RP1):c.2494G>T (p.Asp832Tyr)	RP1 (D832Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 167602	NM_006269.2(RP1):c.2615G>A (p.Arg872His)	RP1 (R872H)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +4 more	GBenign
Select item 197272	NM_006269.2(RP1):c.2700dup (p.Pro901fs)	RP1 (P901fs)	Duplication (frameshift variant)	Retinitis pigmentosa +1 more	GPathogenic/Likely pathogenic
Select item 167603	NM_006269.2(RP1):c.2716G>A (p.Ala906Thr)	RP1 (A906T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 498851	NM_006269.2(RP1):c.2745delinsAA (p.Tyr915Ter)	RP1 (Y915*)	Indel (nonsense)	not provided	GPathogenic
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 281509	NM_006269.2(RP1):c.3132A>C (p.Lys1044Asn)	RP1 (K1044N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 95351	NM_006269.2(RP1):c.3305A>G (p.Gln1102Arg)	RP1 (Q1102R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 197274	NM_006269.2(RP1):c.3532G>T (p.Asp1178Tyr)	RP1 (D1178Y)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 363293	NM_006269.2(RP1):c.3699C>T (p.Ser1233=)	RP1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 595277	NM_006269.2(RP1):c.3734del (p.Cys1245fs)	RP1 (C1245fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 197275	NM_006269.2(RP1):c.3826C>T (p.Pro1276Ser)	RP1 (P1276S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 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 197273	NM_006269.2(RP1):c.4299A>G (p.Ala1433=)	RP1	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +1 more	GConflicting classifications of pathogenicity
Select item 197269	NM_006269.2(RP1):c.4467C>T (p.Ala1489=)	RP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 197271	NM_006269.2(RP1):c.4555del (p.Arg1519fs)	RP1 (R1519fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 594040	NM_006269.2(RP1):c.4633A>G (p.Lys1545Glu)	RP1 (K1545E)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 95352	NM_006269.2(RP1):c.5008G>A (p.Ala1670Thr)	LOC126860392, RP1 (A1670T)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 498306	NM_006269.2(RP1):c.5017del (p.Tyr1673fs)	RP1, LOC126860392 (Y1673fs)	Deletion (frameshift variant)	Retinitis pigmentosa 1 +2 more	GPathogenic/Likely pathogenic
Select item 95353	NM_006269.2(RP1):c.5019T>G (p.Tyr1673Ter)	LOC126860392, RP1 (Y1673*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 95354	NM_006269.2(RP1):c.5071T>C (p.Ser1691Pro)	LOC126860392, RP1 (S1691P)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
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 363308	NM_006269.2(RP1):c.5624G>C (p.Gly1875Ala)	LOC126860392, RP1 (G1875A)	Single nucleotide variant (missense variant)	not specified +2 more	GLikely benign
Select item 95356	NM_006269.2(RP1):c.6024A>G (p.Lys2008=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
Select item 95357	NM_006269.2(RP1):c.6098G>A (p.Cys2033Tyr)	RP1 (C2033Y)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign/Likely benign
Select item 197270	NM_006269.2(RP1):c.6196G>A (p.Asp2066Asn)	RP1 (D2066N)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 1 +2 more	GConflicting classifications of pathogenicity

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Items: 37