"Ambry Genetics"[submitter] AND "RP1"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2241118	NM_006269.2(RP1):c.23G>T (p.Gly8Val)	RP1 (G8V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155793	NM_006269.2(RP1):c.59A>C (p.Gln20Pro)	RP1 (Q20P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155794	NM_006269.2(RP1):c.77A>G (p.His26Arg)	RP1 (H26R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471916	NM_006269.2(RP1):c.103G>T (p.Ala35Ser)	RP1 (A35S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 908099	NM_006269.2(RP1):c.104C>T (p.Ala35Val)	RP1 (A35V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1514159	NM_006269.2(RP1):c.137C>G (p.Pro46Arg)	RP1 (P46R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
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 2239032	NM_006269.2(RP1):c.173G>A (p.Arg58His)	RP1 (R58H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2469327	NM_006269.2(RP1):c.206A>G (p.Asn69Ser)	RP1 (N69S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155786	NM_006269.2(RP1):c.386G>C (p.Ser129Thr)	RP1 (S129T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1471179	NM_006269.2(RP1):c.403G>A (p.Ala135Thr)	RP1 (A135T)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2619208	NM_006269.2(RP1):c.434C>T (p.Ala145Val)	RP1 (A145V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 985322	NM_006269.2(RP1):c.458dup (p.Arg154fs)	RP1 (R154fs)	Duplication (frameshift variant)	Inborn genetic diseases +1 more	GPathogenic
Select item 2315426	NM_006269.2(RP1):c.457C>G (p.Pro153Ala)	RP1 (P153A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330064	NM_006269.2(RP1):c.470T>C (p.Val157Ala)	RP1 (V157A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155792	NM_006269.2(RP1):c.545C>T (p.Ala182Val)	RP1 (A182V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2236431	NM_006269.2(RP1):c.629A>G (p.Gln210Arg)	RP1 (Q210R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3315061	NM_006269.2(RP1):c.748G>C (p.Val250Leu)	RP1 (V250L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2487547	NM_006269.2(RP1):c.758A>C (p.Lys253Thr)	RP1 (K253T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1480193	NM_006269.2(RP1):c.809G>C (p.Ser270Thr)	RP1 (S270T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 3315064	NM_006269.2(RP1):c.975T>G (p.Phe325Leu)	RP1 (F325L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3155795	NM_006269.2(RP1):c.984C>A (p.Asp328Glu)	RP1 (D328E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1443001	NM_006269.2(RP1):c.1037C>A (p.Thr346Asn)	RP1 (T346N)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2070885	NM_006269.2(RP1):c.1078A>C (p.Asn360His)	RP1 (N360H)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 1921154	NM_006269.2(RP1):c.1180A>C (p.Met394Leu)	RP1 (M394L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1464825	NM_006269.2(RP1):c.1180A>G (p.Met394Val)	RP1 (M394V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 731610	NM_006269.2(RP1):c.1187G>A (p.Arg396Gln)	RP1 (R396Q)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 2338913	NM_006269.2(RP1):c.1213G>T (p.Ala405Ser)	RP1 (A405S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2233438	NM_006269.2(RP1):c.1240G>T (p.Asp414Tyr)	RP1 (D414Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1946826	NM_006269.2(RP1):c.1243C>G (p.Gln415Glu)	RP1 (Q415E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1372114	NM_006269.2(RP1):c.1313C>T (p.Thr438Ile)	RP1 (T438I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 866438	NM_006269.2(RP1):c.1333C>T (p.Arg445Cys)	RP1 (R445C)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 867205	NM_006269.2(RP1):c.1435A>G (p.Met479Val)	RP1 (M479V)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GUncertain significance
Select item 2548472	NM_006269.2(RP1):c.1489G>A (p.Glu497Lys)	RP1 (E497K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1471426	NM_006269.2(RP1):c.1500G>A (p.Met500Ile)	RP1 (M500I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3155783	NM_006269.2(RP1):c.1769C>G (p.Thr590Ser)	RP1 (T590S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3315062	NM_006269.2(RP1):c.1907C>G (p.Ser636Cys)	RP1 (S636C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 934005	NM_006269.2(RP1):c.1943A>C (p.Glu648Ala)	RP1 (E648A)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2599678	NM_006269.2(RP1):c.1978A>C (p.Asn660His)	RP1 (N660H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 363281	NM_006269.2(RP1):c.1980T>A (p.Asn660Lys)	RP1 (N660K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 912166	NM_006269.2(RP1):c.2016G>T (p.Lys672Asn)	RP1 (K672N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 912167	NM_006269.2(RP1):c.2017A>G (p.Lys673Glu)	RP1 (K673E)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1055261	NM_006269.2(RP1):c.2024A>T (p.Lys675Ile)	RP1 (K675I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3315063	NM_006269.2(RP1):c.2074A>G (p.Thr692Ala)	RP1 (T692A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 844150	NM_006269.2(RP1):c.2090A>T (p.Asn697Ile)	RP1 (N697I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2526559	NM_006269.2(RP1):c.2207C>T (p.Thr736Ile)	RP1 (T736I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2543047	NM_006269.2(RP1):c.2209G>C (p.Val737Leu)	RP1 (V737L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 957353	NM_006269.2(RP1):c.2317C>A (p.Leu773Ile)	RP1 (L773I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2067741	NM_006269.2(RP1):c.2338A>G (p.Arg780Gly)	RP1 (R780G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 871849	NM_006269.2(RP1):c.2339G>T (p.Arg780Ile)	RP1 (R780I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2721487	NM_006269.2(RP1):c.2363G>A (p.Gly788Glu)	RP1 (G788E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1047253	NM_006269.2(RP1):c.2413A>G (p.Asn805Asp)	RP1 (N805D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1507826	NM_006269.2(RP1):c.2432A>G (p.Lys811Arg)	RP1 (K811R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 936450	NM_006269.2(RP1):c.2455T>G (p.Leu819Val)	RP1 (L819V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1944787	NM_006269.2(RP1):c.2624A>G (p.Asp875Gly)	RP1 (D875G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 836412	NM_006269.2(RP1):c.2627A>C (p.Lys876Thr)	RP1 (K876T)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1905017	NM_006269.2(RP1):c.2635G>C (p.Ala879Pro)	RP1 (A879P)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2534087	NM_006269.2(RP1):c.2660A>T (p.His887Leu)	RP1 (H887L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2480549	NM_006269.2(RP1):c.2666C>T (p.Thr889Ile)	RP1 (T889I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 862695	NM_006269.2(RP1):c.2714A>C (p.Glu905Ala)	RP1 (E905A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 955790	NM_006269.2(RP1):c.2742T>G (p.Asn914Lys)	RP1 (N914K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 236414	NM_006269.2(RP1):c.2749C>T (p.Gln917Ter)	RP1 (Q917*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1051968	NM_006269.2(RP1):c.2750A>G (p.Gln917Arg)	RP1 (Q917R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1037298	NM_006269.2(RP1):c.2757G>C (p.Trp919Cys)	RP1 (W919C)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2181331	NM_006269.2(RP1):c.2792C>G (p.Pro931Arg)	RP1 (P931R)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 908162	NM_006269.2(RP1):c.2825C>T (p.Thr942Met)	RP1 (T942M)	Single nucleotide variant (missense variant +1 more)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 3155785	NM_006269.2(RP1):c.2879A>G (p.Asn960Ser)	RP1 (N960S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 855019	NM_006269.2(RP1):c.3052G>A (p.Val1018Ile)	RP1 (V1018I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1012080	NM_006269.2(RP1):c.3100C>G (p.His1034Asp)	RP1 (H1034D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1507031	NM_006269.2(RP1):c.3155T>C (p.Val1052Ala)	RP1 (V1052A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2245638	NM_006269.2(RP1):c.3221T>C (p.Ile1074Thr)	RP1 (I1074T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 972647	NM_006269.2(RP1):c.3251C>T (p.Pro1084Leu)	RP1 (P1084L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2292969	NM_006269.2(RP1):c.3325C>T (p.Pro1109Ser)	RP1 (P1109S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1037655	NM_006269.2(RP1):c.3413T>C (p.Leu1138Pro)	RP1 (L1138P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1396199	NM_006269.2(RP1):c.3428A>G (p.Asn1143Ser)	RP1 (N1143S)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1503668	NM_006269.2(RP1):c.3451C>T (p.His1151Tyr)	RP1 (H1151Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1355648	NM_006269.2(RP1):c.3502A>G (p.Lys1168Glu)	RP1 (K1168E)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 968148	NM_006269.2(RP1):c.3569C>T (p.Thr1190Ile)	RP1 (T1190I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1524410	NM_006269.2(RP1):c.3605A>T (p.Asp1202Val)	RP1 (D1202V)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2511597	NM_006269.2(RP1):c.3631A>G (p.Asn1211Asp)	RP1 (N1211D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 425443	NM_006269.2(RP1):c.3641C>T (p.Thr1214Met)	RP1 (T1214M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1466905	NM_006269.2(RP1):c.3667T>G (p.Cys1223Gly)	RP1 (C1223G)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1058125	NM_006269.2(RP1):c.3694A>G (p.Ile1232Val)	RP1 (I1232V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2283501	NM_006269.2(RP1):c.3724A>G (p.Ser1242Gly)	RP1 (S1242G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2093118	NM_006269.2(RP1):c.3788C>T (p.Thr1263Ile)	RP1 (T1263I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2981160	NM_006269.2(RP1):c.3800C>A (p.Ala1267Asp)	RP1 (A1267D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 970126	NM_006269.2(RP1):c.3848G>T (p.Ser1283Ile)	RP1 (S1283I)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2606117	NM_006269.2(RP1):c.3946G>A (p.Ala1316Thr)	RP1 (A1316T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330468	NM_006269.2(RP1):c.3946G>T (p.Ala1316Ser)	RP1 (A1316S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2330469	NM_006269.2(RP1):c.3947C>T (p.Ala1316Val)	RP1 (A1316V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3155787	NM_006269.2(RP1):c.4000G>T (p.Val1334Phe)	RP1 (V1334F)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1472399	NM_006269.2(RP1):c.4013T>A (p.Val1338Asp)	RP1 (V1338D)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1364441	NM_006269.2(RP1):c.4025T>C (p.Ile1342Thr)	RP1 (I1342T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +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 3155788	NM_006269.2(RP1):c.4058C>A (p.Thr1353Asn)	RP1 (T1353N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2607042	NM_006269.2(RP1):c.4097A>G (p.Asp1366Gly)	RP1 (D1366G)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2288420	NM_006269.2(RP1):c.4107G>C (p.Gln1369His)	RP1 (Q1369H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2555286	NM_006269.2(RP1):c.4226A>T (p.Glu1409Val)	RP1 (E1409V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2298909	NM_006269.2(RP1):c.4268G>T (p.Cys1423Phe)	RP1 (C1423F)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance

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