"Dept Of Ophthalmology, Nagoya University"[submitter] AND "PCARE"[gene - ClinVar

Search results

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 772842	NM_001029883.3(PCARE):c.3840G>A (p.Ala1280=)	PCARE	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 3028808	NM_001029883.3(PCARE):c.3807C>T (p.Thr1269=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 195107	NM_001029883.3(PCARE):c.3739G>A (p.Gly1247Ser)	PCARE (G1247S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 54 +4 more	GBenign/Likely benign
Select item 897808	NM_001029883.3(PCARE):c.3722C>T (p.Ser1241Phe)	PCARE (S1241F)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 851239	NM_001029883.3(PCARE):c.3704C>T (p.Pro1235Leu)	PCARE (P1235L)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 3028810	NM_001029883.3(PCARE):c.3696C>A (p.Asp1232Glu)	PCARE (D1232E)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028811	NM_001029883.3(PCARE):c.3678G>A (p.Glu1226=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 335637	NM_001029883.3(PCARE):c.3673_3675dupAGC	PCARE	Microsatellite (splice acceptor variant)	Retinal dystrophy +4 more	GBenign/Likely benign
Select item 335640	NM_001029883.3(PCARE):c.3590G>A (p.Arg1197His)	PCARE (R1197H)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 3028812	NM_001029883.3(PCARE):c.3567C>T (p.Phe1189=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 894833	NM_001029883.3(PCARE):c.3531G>A (p.Arg1177=)	PCARE	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1040109	NM_001029883.3(PCARE):c.3530G>A (p.Arg1177Gln)	PCARE (R1177Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 752211	NM_001029883.3(PCARE):c.3527A>G (p.Gln1176Arg)	PCARE (Q1176R)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 3028813	NM_001029883.3(PCARE):c.3526C>T (p.Gln1176Ter)	PCARE (Q1176*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 1520787	NM_001029883.3(PCARE):c.3469G>A (p.Gly1157Arg)	PCARE (G1157R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 894834	NM_001029883.3(PCARE):c.3404C>T (p.Pro1135Leu)	PCARE (P1135L)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 3028814	NM_001029883.3(PCARE):c.3358_3359del (p.His1120fs)	PCARE (H1120fs)	Microsatellite (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 894835	NM_001029883.3(PCARE):c.3356C>T (p.Thr1119Ile)	PCARE (T1119I)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +1 more	GUncertain significance
Select item 3028815	NM_001029883.3(PCARE):c.3316G>T (p.Glu1106Ter)	PCARE (E1106*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 1354424	NM_001029883.3(PCARE):c.3271C>T (p.Pro1091Ser)	PCARE (P1091S)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 3028816	NM_001029883.3(PCARE):c.3239C>T (p.Ala1080Val)	PCARE (A1080V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028817	NM_001029883.3(PCARE):c.3216C>A (p.Ser1072Arg)	PCARE (S1072R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1404900	NM_001029883.3(PCARE):c.3152C>T (p.Pro1051Leu)	PCARE (P1051L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3028819	NM_001029883.3(PCARE):c.2993G>T (p.Arg998Met)	PCARE (R998M)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 143088	NM_001029883.3(PCARE):c.2988dup (p.Thr997fs)	PCARE (T997fs)	Duplication (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3028820	NM_001029883.3(PCARE):c.2980G>A (p.Ala994Thr)	PCARE (A994T)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 335644	NM_001029883.3(PCARE):c.2965C>G (p.Pro989Ala)	PCARE (P989A)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 897890	NM_001029883.3(PCARE):c.2898A>C (p.Pro966=)	PCARE	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 286246	NM_001029883.3(PCARE):c.2889C>T (p.Ser963=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GBenign
Select item 2868152	NM_001029883.3(PCARE):c.2868G>A (p.Lys956=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 388495	NM_001029883.3(PCARE):c.2864G>A (p.Arg955Gln)	PCARE (R955Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +3 more	GConflicting classifications of pathogenicity
Select item 3028821	NM_001029883.3(PCARE):c.2841C>T (p.Ala947=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 1121175	NM_001029883.3(PCARE):c.2811G>A (p.Lys937=)	PCARE	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 335646	NM_001029883.3(PCARE):c.2803G>A (p.Glu935Lys)	PCARE (E935K)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3028823	NM_001029883.3(PCARE):c.2765T>C (p.Leu922Pro)	PCARE (L922P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 2197438	NM_001029883.3(PCARE):c.2714G>A (p.Ser905Asn)	PCARE (S905N)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 1005502	NM_001029883.3(PCARE):c.2570A>C (p.Asn857Thr)	PCARE (N857T)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 966603	NM_001029883.3(PCARE):c.2530G>A (p.Ala844Thr)	PCARE (A844T)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 714938	NM_001029883.3(PCARE):c.2502T>C (p.Pro834=)	PCARE	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 287770	NM_001029883.3(PCARE):c.2499G>A (p.Pro833=)	PCARE	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +4 more	GBenign
Select item 3028824	NM_001029883.3(PCARE):c.2482G>A (p.Glu828Lys)	PCARE (E828K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1063550	NM_001029883.3(PCARE):c.2462G>A (p.Cys821Tyr)	PCARE (C821Y)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3028825	NM_001029883.3(PCARE):c.2400C>G (p.Pro800=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 287769	NM_001029883.3(PCARE):c.2374C>G (p.Leu792Val)	PCARE (L792V)	Single nucleotide variant (missense variant)	Retinal dystrophy +4 more	GBenign
Select item 1803206	NM_001029883.3(PCARE):c.2185A>G (p.Thr729Ala)	PCARE (T729A)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 54 +1 more	GUncertain significance
Select item 193145	NM_001029883.3(PCARE):c.2112T>C (p.Asn704=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy +4 more	GBenign
Select item 3028826	NM_001029883.3(PCARE):c.2092A>T (p.Lys698Ter)	PCARE (K698*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 1087015	NM_001029883.3(PCARE):c.1944C>T (p.Ala648=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 777945	NM_001029883.3(PCARE):c.1942G>A (p.Ala648Thr)	PCARE (A648T)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GBenign
Select item 897959	NM_001029883.3(PCARE):c.1775C>T (p.Thr592Met)	PCARE (T592M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GConflicting classifications of pathogenicity
Select item 3028827	NM_001029883.3(PCARE):c.1757G>A (p.Arg586Lys)	PCARE (R586K)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 335655	NM_001029883.3(PCARE):c.1739C>T (p.Thr580Met)	PCARE (T580M)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GBenign
Select item 335658	NM_001029883.3(PCARE):c.1582C>T (p.Arg528Cys)	PCARE (R528C)	Single nucleotide variant (missense variant)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 3028829	NM_001029883.3(PCARE):c.1490T>G (p.Met497Arg)	PCARE (M497R)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1004188	NM_001029883.3(PCARE):c.1453G>A (p.Glu485Lys)	PCARE (E485K)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 335662	NM_001029883.3(PCARE):c.1452C>T (p.Ser484=)	PCARE	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GBenign
Select item 3028830	NM_001029883.3(PCARE):c.1405C>T (p.Leu469Phe)	PCARE (L469F)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 1003395	NM_001029883.3(PCARE):c.1395G>A (p.Val465=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GUncertain significance
Select item 335663	NM_001029883.3(PCARE):c.1382T>C (p.Ile461Thr)	PCARE (I461T)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GUncertain significance
Select item 335665	NM_001029883.3(PCARE):c.1262A>G (p.Lys421Arg)	PCARE (K421R)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GBenign
Select item 3028831	NM_001029883.3(PCARE):c.1218A>T (p.Ser406=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 763884	NM_001029883.3(PCARE):c.1137A>G (p.Glu379=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy +1 more	GLikely benign
Select item 950605	NM_001029883.3(PCARE):c.959G>A (p.Arg320His)	PCARE (R320H)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3028833	NM_001029883.3(PCARE):c.852A>G (p.Thr284=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028834	NM_001029883.3(PCARE):c.824dup (p.Ser276fs)	PCARE (S276fs)	Duplication (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3028835	NM_001029883.3(PCARE):c.668T>C (p.Leu223Pro)	PCARE (L223P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 859905	NM_001029883.3(PCARE):c.635G>A (p.Arg212Gln)	PCARE (R212Q)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 3028836	NM_001029883.3(PCARE):c.571_572insAGGCTTACACCAGCAGGCT (p.Leu191fs)	PCARE (L191fs)	Insertion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 3028837	NM_001029883.3(PCARE):c.570T>G (p.Tyr190Ter)	PCARE (Y190*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 3028838	NM_001029883.3(PCARE):c.568del (p.Tyr190fs)	PCARE (Y190fs)	Deletion (frameshift variant)	Retinal dystrophy	GPathogenic
Select item 730821	NM_001029883.3(PCARE):c.531G>A (p.Pro177=)	PCARE	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1140948	NM_001029883.3(PCARE):c.407A>G (p.Glu136Gly)	PCARE (E136G)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GLikely benign
Select item 3028839	NM_001029883.3(PCARE):c.397G>T (p.Glu133Ter)	PCARE (E133*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GPathogenic
Select item 1378155	NM_001029883.3(PCARE):c.358G>C (p.Gly120Arg)	PCARE (G120R)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 3028840	NM_001029883.3(PCARE):c.351G>C (p.Lys117Asn)	PCARE (K117N)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028841	NM_001029883.3(PCARE):c.294C>G (p.Thr98=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 335672	NM_001029883.3(PCARE):c.258G>A (p.Arg86=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GBenign
Select item 1397137	NM_001029883.3(PCARE):c.178G>A (p.Glu60Lys)	PCARE (E60K)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3028842	NM_001029883.3(PCARE):c.116G>T (p.Gly39Val)	PCARE (G39V)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 335673	NM_001029883.3(PCARE):c.102C>T (p.Gly34=)	PCARE	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3028843	NM_001029883.3(PCARE):c.100G>A (p.Gly34Ser)	PCARE (G34S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 498446	NM_001029883.3(PCARE):c.85C>T (p.Arg29Trp)	PCARE (R29W)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 335674	NM_001029883.3(PCARE):c.60G>A (p.Gln20=)	PCARE	Single nucleotide variant (synonymous variant)	Retinal dystrophy +3 more	GBenign
Select item 854244	NM_001029883.3(PCARE):c.8G>A (p.Cys3Tyr)	PCARE (C3Y)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 54 +2 more	GConflicting classifications of pathogenicity

ClinVar

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Items: 84