ClinVar for MedGen (Select 462041) - ClinVar

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Items: 55

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2628065	NM_001029883.3(PCARE):c.938_946dup (p.Arg315_Asn316insThrLysArg)	PCARE	Duplication (inframe_insertion)	Retinitis pigmentosa 54	GLikely pathogenic
Select item 2444372	NM_001029883.3(PCARE):c.3048_3049del (p.Tyr1016_Arg1017delinsTer)	PCARE	Deletion (nonsense)	Retinitis pigmentosa 54	GLikely pathogenic
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 1301554	NM_001029883.3(PCARE):c.2938C>T (p.Pro980Ser)	PCARE (P980S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 54	GUncertain significance
Select item 1213962	NM_001029883.3(PCARE):c.2415del (p.Pro807fs)	PCARE (P807fs)	Deletion (frameshift variant)	Retinitis pigmentosa 54	GLikely pathogenic
Select item 1213961	NM_001029883.3(PCARE):c.2424del (p.Pro809fs)	PCARE (P809fs)	Deletion (frameshift variant)	Retinitis pigmentosa 54	GLikely pathogenic
Select item 1065771	NM_001029883.3(PCARE):c.1663del (p.Val555fs)	PCARE (V555fs)	Deletion (frameshift variant)	Retinitis pigmentosa 54	GLikely pathogenic
Select item 1065770	NM_001029883.3(PCARE):c.1894A>T (p.Lys632Ter)	PCARE (K632*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 54	GLikely pathogenic
Select item 1065729	NM_001029883.3(PCARE):c.1612C>T (p.Gln538Ter)	PCARE (Q538*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 54	GLikely pathogenic
Select item 1049580	NM_001029883.3(PCARE):c.920T>A (p.Leu307Ter)	PCARE (L307*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 987347	NM_001029883.3(PCARE):c.2704A>T (p.Lys902Ter)	PCARE (K902*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 979001	NM_001029883.3(PCARE):c.2967del (p.Val990fs)	PCARE (V990fs)	Deletion (frameshift variant)	PCARE-related condition +1 more	GPathogenic
Select item 973351	NM_001029883.3(PCARE):c.1229del (p.Gln410fs)	PCARE (Q410fs)	Deletion (frameshift variant)	Retinitis pigmentosa +1 more	GPathogenic
Select item 916720	NM_001029883.3(PCARE):c.3668+2T>C	PCARE	Single nucleotide variant (splice donor variant)	Retinitis pigmentosa 54	GLikely pathogenic
Select item 871084	NM_001029883.3(PCARE):c.1541del (p.Pro514fs)	PCARE (P514fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 867166	NM_001029883.3(PCARE):c.1984dup (p.Thr662fs)	PCARE (T662fs)	Duplication (frameshift variant)	Retinitis pigmentosa 54 +1 more	GLikely pathogenic
Select item 866068	NM_001029883.3(PCARE):c.958del (p.Arg320fs)	PCARE (R320fs)	Deletion (frameshift variant)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 857282	NM_001029883.3(PCARE):c.3029G>A (p.Arg1010Gln)	PCARE (R1010Q)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 54 +1 more	GUncertain significance
Select item 854244	NM_001029883.3(PCARE):c.8G>A (p.Cys3Tyr)	PCARE (C3Y)	Single nucleotide variant (missense variant)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 841159	NM_001029883.3(PCARE):c.1837C>T (p.Arg613Ter)	PCARE (R613*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 839525	NM_001029883.3(PCARE):c.3604C>T (p.Arg1202Ter)	PCARE (R1202*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 829908	NM_001029883.3(PCARE):c.1228C>T (p.Gln410Ter)	PCARE (Q410*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 54	GLikely pathogenic
Select item 808719	NM_001029883.3(PCARE):c.2380dup (p.Met794fs)	PCARE (M794fs)	Duplication (frameshift variant)	Retinitis pigmentosa 54 +2 more	GPathogenic/Likely pathogenic
Select item 785849	NM_001029883.3(PCARE):c.3522C>T (p.Asp1174=)	PCARE	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 54 +2 more	GBenign/Likely benign
Select item 781944	NM_001029883.3(PCARE):c.755C>A (p.Ala252Asp)	PCARE (A252D)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GBenign
Select item 599266	NM_001029883.3(PCARE):c.1191G>A (p.Trp397Ter)	PCARE (W397*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 522284	NM_001029883.3(PCARE):c.1545dup (p.Ser516fs)	PCARE (S516fs)	Duplication (frameshift variant)	Retinitis pigmentosa 54 +1 more	GPathogenic
Select item 498856	NM_001029883.3(PCARE):c.1844T>A (p.Val615Asp)	PCARE (V615D)	Single nucleotide variant (missense variant)	not specified +3 more	GBenign/Likely benign
Select item 438048	NM_001029883.3(PCARE):c.3002G>A (p.Trp1001Ter)	PCARE (W1001*)	Single nucleotide variant (nonsense)	not provided +5 more	GPathogenic/Likely pathogenic
Select item 335674	NM_001029883.3(PCARE):c.60G>A (p.Gln20=)	PCARE	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa +3 more	GBenign
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 335668	NM_001029883.3(PCARE):c.679G>A (p.Glu227Lys)	PCARE (E227K)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GBenign
Select item 335664	NM_001029883.3(PCARE):c.1297C>T (p.Pro433Ser)	PCARE (P433S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 54 +4 more	GConflicting classifications of pathogenicity
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 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 335655	NM_001029883.3(PCARE):c.1739C>T (p.Thr580Met)	PCARE (T580M)	Single nucleotide variant (missense variant)	Retinitis pigmentosa 54 +3 more	GBenign
Select item 335652	NM_001029883.3(PCARE):c.1968G>T (p.Arg656Ser)	PCARE (R656S)	Single nucleotide variant (missense variant)	Retinitis pigmentosa +2 more	GUncertain significance
Select item 335637	NM_001029883.3(PCARE):c.3673_3675dupAGC	PCARE	Microsatellite (splice acceptor variant)	not specified +4 more	GBenign/Likely benign
Select item 335635	NM_001029883.3(PCARE):c.*27G>A	PCARE	Single nucleotide variant (3 prime UTR variant)	Retinitis pigmentosa 54 +1 more	GBenign
Select item 287770	NM_001029883.3(PCARE):c.2499G>A (p.Pro833=)	PCARE	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 287769	NM_001029883.3(PCARE):c.2374C>G (p.Leu792Val)	PCARE (L792V)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 283187	NM_001029883.3(PCARE):c.3447G>A (p.Pro1149=)	PCARE	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign
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 193146	NM_001029883.3(PCARE):c.2063G>A (p.Cys688Tyr)	PCARE (C688Y)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 193145	NM_001029883.3(PCARE):c.2112T>C (p.Asn704=)	PCARE	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 54 +4 more	GBenign
Select item 193142	NM_001029883.3(PCARE):c.3058_3059delinsAG (p.Gln1020Arg)	PCARE (Q1020R)	Indel (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 193141	NM_001029883.3(PCARE):c.2875G>A (p.Ala959Thr)	PCARE (A959T)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign
Select item 166760	NM_001029883.3(PCARE):c.2600C>T (p.Pro867Leu)	PCARE (P867L)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 166758	NM_001029883.3(PCARE):c.3789G>A (p.Leu1263=)	PCARE	Single nucleotide variant (synonymous variant)	Retinitis pigmentosa 54 +3 more	GBenign/Likely benign
Select item 93474	NM_001029883.3(PCARE):c.3264_3266del (p.Pro1089del)	PCARE (P1089del)	Deletion (inframe_deletion)	Retinitis pigmentosa 54 +2 more	GBenign
Select item 105	NM_001029883.3(PCARE):c.2756_2768del (p.Lys919fs)	PCARE (K919fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 104	NM_001029883.3(PCARE):c.556C>T (p.Gln186Ter)	PCARE (Q186*)	Single nucleotide variant (nonsense)	Retinitis pigmentosa 54 +1 more	GPathogenic
Select item 103	NM_001029883.3(PCARE):c.947del (p.Asn316fs)	PCARE (N316fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 102	NM_001029883.3(PCARE):c.601A>T (p.Ile201Phe)	PCARE (I201F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 101	NM_001029883.3(PCARE):c.759G>A (p.Trp253Ter)	PCARE	Single nucleotide variant (nonsense)	Retinitis pigmentosa 54	GPathogenic

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Items: 55