ClinVar for Gene (Select 6101) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3315065	NM_006269.2(RP1):c.5843G>T (p.Gly1948Val)	LOC126860392, RP1 (G1948V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 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 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 3315061	NM_006269.2(RP1):c.748G>C (p.Val250Leu)	RP1 (V250L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3257151	NM_001375654.1(RP1):c.3351T>C (p.Asn1117=)	RP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3257125	NM_001375654.1(RP1):c.3816C>T (p.Ile1272=)	RP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3250520	NM_001375654.1(RP1):c.940G>T (p.Asp314Tyr)	RP1 (D314Y)	Single nucleotide variant (missense variant)	not provided	GLikely benign
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 3155794	NM_006269.2(RP1):c.77A>G (p.His26Arg)	RP1 (H26R)	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 3155792	NM_006269.2(RP1):c.545C>T (p.Ala182Val)	RP1 (A182V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3155789	NM_006269.2(RP1):c.4482C>G (p.Ile1494Met)	RP1 (I1494M)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
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 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 3155786	NM_006269.2(RP1):c.386G>C (p.Ser129Thr)	RP1 (S129T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 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 3067183	NM_001375654.1(RP1):c.1622A>G (p.Asn541Ser)	RP1 (N541S)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3063025	GRCh37/hg19 8p21.2-q21.3(chr8:27024288-89410121)x3	ADAM18, ADAM2 +240 more	Copy number gain	not specified	GPathogenic
Select item 3063013	GRCh37/hg19 8p23.3-q24.3(chr8:158048-146295771)x3	AARD, ABRA +665 more	Copy number gain	not specified	GPathogenic
Select item 3028133	NM_006269.2(RP1):c.6421A>C (p.Ile2141Leu)	RP1 (I2141L)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028132	NM_006269.2(RP1):c.6330A>G (p.Gln2110=)	RP1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028131	NM_006269.2(RP1):c.6197A>G (p.Asp2066Gly)	RP1 (D2066G)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028129	NM_006269.2(RP1):c.5753G>A (p.Cys1918Tyr)	LOC126860392, RP1 (C1918Y)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028128	NM_006269.2(RP1):c.5567G>C (p.Gly1856Ala)	LOC126860392, RP1 (G1856A)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028127	NM_006269.2(RP1):c.5552A>C (p.His1851Pro)	LOC126860392, RP1 (H1851P)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely benign
Select item 3028126	NM_006269.2(RP1):c.5502G>A (p.Leu1834=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028125	NM_006269.2(RP1):c.4952C>T (p.Thr1651Ile)	LOC126860392, RP1 (T1651I)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028124	NM_006269.2(RP1):c.4891G>T (p.Ala1631Ser)	LOC126860392, RP1 (A1631S)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028123	NM_006269.2(RP1):c.4873A>T (p.Ile1625Leu)	RP1 (I1625L)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028122	NM_006269.2(RP1):c.4698T>G (p.Thr1566=)	RP1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028121	NM_006269.2(RP1):c.4544T>C (p.Met1515Thr)	RP1 (M1515T)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028120	NM_006269.2(RP1):c.4267T>A (p.Cys1423Ser)	RP1 (C1423S)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028119	NM_006269.2(RP1):c.4158A>G (p.Thr1386=)	RP1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028118	NM_006269.2(RP1):c.4089_4092del (p.Arg1364fs)	RP1 (R1364fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028117	NM_006269.2(RP1):c.3827_3837del (p.Pro1276fs)	RP1 (P1276fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028116	NM_006269.2(RP1):c.3740C>T (p.Pro1247Leu)	RP1 (P1247L)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028115	NM_006269.2(RP1):c.3669C>A (p.Cys1223Ter)	RP1 (C1223*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028114	NM_006269.2(RP1):c.3171C>A (p.Asn1057Lys)	RP1 (N1057K)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028113	NM_006269.2(RP1):c.3042T>C (p.Asp1014=)	RP1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028112	NM_006269.2(RP1):c.2999del (p.Gly1000fs)	RP1 (G1000fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028111	NM_006269.2(RP1):c.2947G>A (p.Gly983Arg)	RP1 (G983R)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028110	NM_006269.2(RP1):c.2933T>A (p.Ile978Asn)	RP1 (I978N)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028109	NM_006269.2(RP1):c.2830G>A (p.Val944Met)	RP1 (V944M)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely benign
Select item 3028108	NM_006269.2(RP1):c.2704G>A (p.Asp902Asn)	RP1 (D902N)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028107	NM_006269.2(RP1):c.2599A>T (p.Lys867Ter)	RP1 (K867*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028106	NM_006269.2(RP1):c.2599A>C (p.Lys867Gln)	RP1 (K867Q)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028105	NM_006269.2(RP1):c.2597del (p.Thr865_Leu866insTer)	RP1	Deletion (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028104	NM_006269.2(RP1):c.2592_2596del (p.Thr865fs)	RP1 (T865fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028103	NM_006269.2(RP1):c.2560del (p.Ser854fs)	RP1 (S854fs)	Deletion (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028102	NM_006269.2(RP1):c.2377A>G (p.Arg793Gly)	RP1 (R793G)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028101	NM_006269.2(RP1):c.2336_2337del (p.Lys778_Ser779insTer)	RP1	Deletion (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028100	NM_006269.2(RP1):c.2252C>T (p.Ser751Phe)	RP1 (S751F)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028099	NM_006269.2(RP1):c.2185G>T (p.Glu729Ter)	RP1 (E729*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028098	NM_006269.2(RP1):c.2160C>T (p.Pro720=)	RP1	Single nucleotide variant (synonymous variant +1 more)	Retinal dystrophy	GLikely benign
Select item 3028097	NM_006269.2(RP1):c.2065C>T (p.Gln689Ter)	RP1 (Q689*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028096	NM_006269.2(RP1):c.1981G>T (p.Glu661Ter)	RP1 (E661*)	Single nucleotide variant (nonsense +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028094	NM_006269.2(RP1):c.1883A>G (p.Glu628Gly)	RP1 (E628G)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028093	NM_006269.2(RP1):c.1566C>G (p.Asn522Lys)	RP1 (N522K)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028092	NM_006269.2(RP1):c.1496A>C (p.His499Pro)	RP1 (H499P)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028091	NM_006269.2(RP1):c.1193G>A (p.Ser398Asn)	RP1 (S398N)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028090	NM_006269.2(RP1):c.1138T>A (p.Leu380Ile)	RP1 (L380I)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028089	NM_006269.2(RP1):c.1112G>T (p.Gly371Val)	RP1 (G371V)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3028088	NM_006269.2(RP1):c.1001dup (p.Met335fs)	RP1 (M335fs)	Duplication (frameshift variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3028087	NM_006269.2(RP1):c.518G>T (p.Ser173Ile)	RP1 (S173I)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028086	NM_006269.2(RP1):c.458del (p.Pro153fs)	RP1 (P153fs)	Deletion (frameshift variant)	Retinal dystrophy	GLikely pathogenic
Select item 3028085	NM_006269.2(RP1):c.406C>T (p.His136Tyr)	RP1 (H136Y)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028084	NM_006269.2(RP1):c.381G>T (p.Trp127Cys)	RP1 (W127C)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028083	NM_006269.2(RP1):c.190G>A (p.Asp64Asn)	RP1 (D64N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028082	NM_006269.2(RP1):c.129C>T (p.Ser43=)	RP1	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3026257	NM_001375654.1(RP1):c.3363G>A (p.Trp1121Ter)	RP1 (W1121*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3025958	NM_006269.2(RP1):c.4705A>T (p.Thr1569Ser)	RP1 (T1569S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3025922	NM_001375654.1(RP1):c.3750G>T (p.Glu1250Asp)	RP1 (E1250D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3024720	NM_001375654.1(RP1):c.1459T>C (p.Tyr487His)	RP1 (Y487H)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3019874	NM_006269.2(RP1):c.5595A>G (p.Thr1865=)	LOC126860392, RP1	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3019295	NM_006269.2(RP1):c.2041A>G (p.Ile681Val)	RP1 (I681V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3017836	NM_006269.2(RP1):c.365G>C (p.Arg122Pro)	RP1 (R122P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3013046	NM_006269.2(RP1):c.361dup (p.Arg121fs)	RP1 (R121fs)	Duplication (frameshift variant)	not provided	GPathogenic
Select item 3012535	NM_006269.2(RP1):c.4249C>G (p.Leu1417Val)	RP1 (L1417V)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 3010170	NM_006269.2(RP1):c.5971C>G (p.Gln1991Glu)	LOC126860392, RP1 (Q1991E)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3009999	NM_006269.2(RP1):c.2157_2256del (p.Ser719fs)	RP1 (S719fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 3008493	NM_006269.2(RP1):c.318T>C (p.Cys106=)	RP1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007888	NM_006269.2(RP1):c.3215A>G (p.Asp1072Gly)	RP1 (D1072G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3007693	NM_006269.2(RP1):c.570C>A (p.Val190=)	RP1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 3006388	NM_006269.2(RP1):c.35T>C (p.Ile12Thr)	RP1 (I12T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3002975	NM_006269.2(RP1):c.2716G>T (p.Ala906Ser)	RP1 (A906S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3002845	NM_006269.2(RP1):c.5374G>T (p.Ala1792Ser)	LOC126860392, RP1 (A1792S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3001863	NM_006269.2(RP1):c.5330A>G (p.Asp1777Gly)	LOC126860392, RP1 (D1777G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3001764	NM_006269.2(RP1):c.6302G>A (p.Gly2101Asp)	RP1 (G2101D)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3000784	NM_006269.2(RP1):c.2876C>A (p.Thr959Lys)	RP1 (T959K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2999608	NM_006269.2(RP1):c.2596T>G (p.Leu866Val)	RP1 (L866V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2997844	NM_006269.2(RP1):c.719C>T (p.Pro240Leu)	RP1 (P240L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996352	NM_006269.2(RP1):c.2801C>G (p.Ser934Ter)	RP1 (S934*)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 2991056	NM_006269.2(RP1):c.4593G>T (p.Arg1531Ser)	RP1 (R1531S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2985876	NM_006269.2(RP1):c.289G>A (p.Glu97Lys)	RP1 (E97K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2985442	NM_006269.2(RP1):c.615+20C>T	RP1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2983442	NM_006269.2(RP1):c.1651G>C (p.Glu551Gln)	RP1 (E551Q)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2982277	NM_006269.2(RP1):c.3790_3791del (p.Val1264fs)	RP1 (V1264fs)	Deletion (frameshift variant +1 more)	not provided	GPathogenic
Select item 2982176	NM_006269.2(RP1):c.1192A>G (p.Ser398Gly)	RP1 (S398G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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