"Baylor Genetics"[submitter] AND "PHF3"[gene] - ClinVar

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Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 538	NM_001142800.2(EYS):c.9405T>A (p.Tyr3135Ter)	EYS, PHF3 (Y3156* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +3 more	GPathogenic/Likely pathogenic
Select item 444685	NM_001142800.2(EYS):c.9392G>C (p.Gly3131Ala)	EYS, PHF3 (G3131A +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 865915	NM_001142800.2(EYS):c.9383_9387del (p.Lys3128fs)	EYS, PHF3 (K3128fs +1 more)	Microsatellite (3 prime UTR variant +1 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 2675321	NM_001142800.2(EYS):c.9380_9383del (p.Ile3127fs)	EYS, PHF3 (I3127fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 849255	NM_001142800.2(EYS):c.9376_9379del (p.Ile3127fs)	EYS, PHF3 (I3127fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic
Select item 841729	NM_001142800.2(EYS):c.9354dup (p.Gln3119fs)	EYS, PHF3 (Q3119fs +1 more)	Duplication (3 prime UTR variant +1 more)	Retinitis pigmentosa +2 more	GPathogenic/Likely pathogenic
Select item 2675292	NM_001142800.2(EYS):c.9337_9350del (p.Lys3113fs)	EYS, PHF3 (K3113fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 636032	NM_001142800.2(EYS):c.9344T>A (p.Val3115Asp)	EYS, PHF3 (V3115D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GLikely pathogenic
Select item 557700	NM_001142800.2(EYS):c.9317_9336del (p.Thr3106fs)	EYS, PHF3 (T3106fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 2675339	NM_001142800.2(EYS):c.9324_9326delinsGG (p.Phe3108fs)	EYS, PHF3 (F3108fs +1 more)	Indel (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2098392	NM_001142800.2(EYS):c.9302_9303del (p.Gln3101fs)	EYS, PHF3 (Q3122fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 25 +2 more	GConflicting classifications of pathogenicity
Select item 802230	NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs)	EYS, PHF3 (T3100fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 2675233	NM_001142800.2(EYS):c.9301C>T (p.Gln3101Ter)	EYS, PHF3 (Q3101* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 289906	NM_001142800.2(EYS):c.9286_9295del (p.Val3096fs)	EYS, PHF3 (V3117fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 25 +3 more	GPathogenic/Likely pathogenic
Select item 3241494	NM_001142800.2(EYS):c.9278del (p.Gly3093fs)	EYS, PHF3 (G3093fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 966001	NM_001142800.2(EYS):c.9234_9249dup (p.Ile3084delinsSerLysLeuTer)	EYS, PHF3	Duplication (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 1392226	NM_001142800.2(EYS):c.9238_9239del (p.Asn3080fs)	EYS, PHF3 (N3101fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 289313	NM_001142800.2(EYS):c.9186_9187del (p.Asn3062fs)	EYS, PHF3 (N3062fs +1 more)	Deletion (frameshift variant +1 more)	Retinitis pigmentosa 25 +2 more	GConflicting classifications of pathogenicity
Select item 2136424	NM_001142800.2(EYS):c.9182_9185del (p.Asn3061fs)	EYS, PHF3 (N3061fs +1 more)	Microsatellite (3 prime UTR variant +1 more)	not provided +2 more	GPathogenic
Select item 1952441	NM_001142800.2(EYS):c.9177_9180del (p.Ala3058_Tyr3059insTer)	EYS, PHF3	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 558109	NM_001142800.2(EYS):c.9166_9167del (p.Ile3056fs)	EYS, PHF3 (I3056fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 2675299	NM_001142800.2(EYS):c.9163_9164del (p.Leu3055fs)	EYS, PHF3 (L3055fs +1 more)	Microsatellite (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 1380322	NM_001142800.2(EYS):c.9159_9160del (p.Gln3053fs)	EYS, PHF3 (Q3074fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 865822	NM_001142800.2(EYS):c.9131G>T (p.Trp3044Leu)	EYS, PHF3 (W3044L +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GLikely pathogenic
Select item 1929386	NM_001142800.2(EYS):c.9096_9102del (p.Met3032fs)	EYS, PHF3 (M3032fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2675254	NM_001142800.2(EYS):c.9086_9087del (p.Ser3029fs)	EYS, PHF3 (S3029fs +1 more)	Microsatellite (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675250	NM_001142800.2(EYS):c.9067_9085del (p.Asn3023fs)	EYS, PHF3 (N3023fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 556940	NM_001142800.2(EYS):c.9079_9082del (p.Arg3027fs)	EYS, PHF3 (R3027fs +1 more)	Microsatellite (3 prime UTR variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 1021022	NM_001142800.2(EYS):c.9061G>C (p.Ala3021Pro)	EYS, PHF3 (A3021P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 853016	NM_001142800.2(EYS):c.9059T>C (p.Ile3020Thr)	EYS, PHF3 (I3041T +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +2 more	GConflicting classifications of pathogenicity
Select item 647784	NM_001142800.2(EYS):c.9036del (p.Leu3013fs)	EYS, PHF3 (L3034fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 2675300	NM_001142800.2(EYS):c.9010_9019del (p.Glu3004fs)	EYS, PHF3 (E3004fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 1500117	NM_001142800.2(EYS):c.9019G>T (p.Asp3007Tyr)	EYS, PHF3 (D3028Y +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2675247	NM_001142800.2(EYS):c.9013G>T (p.Glu3005Ter)	EYS, PHF3 (E3005* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 939428	NM_001142800.2(EYS):c.8984T>A (p.Ile2995Asn)	EYS, PHF3 (I3016N +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +2 more	GPathogenic/Likely pathogenic
Select item 3241495	NM_001142800.2(EYS):c.8971del (p.Thr2991fs)	EYS, PHF3 (T2991fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 2675245	NM_001142800.2(EYS):c.8945_8946delinsATTTCAC (p.Ile2982fs)	EYS, PHF3 (I2982fs +1 more)	Indel (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 834807	NM_001142800.2(EYS):c.8892_8896del (p.Tyr2964_Lys2966delinsTer)	EYS, PHF3	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 1075666	NM_001142800.2(EYS):c.8868del (p.Ala2957fs)	EYS, PHF3 (A2957fs +1 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy +2 more	GPathogenic/Likely pathogenic
Select item 2675311	NM_001142800.2(EYS):c.8858C>A (p.Ser2953Ter)	EYS, PHF3 (S2953* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GConflicting classifications of pathogenicity
Select item 836062	NM_001142800.2(EYS):c.8834G>A (p.Gly2945Glu)	EYS, PHF3 (G2945E +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 599165	NM_001142800.2(EYS):c.8830del (p.Val2944fs)	EYS, PHF3 (V2944fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 2675319	NM_001142800.2(EYS):c.8804dup (p.Tyr2935Ter)	EYS, PHF3 (Y2935* +1 more)	Duplication (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GPathogenic
Select item 143115	NM_001142800.2(EYS):c.8805C>A (p.Tyr2935Ter)	EYS, PHF3 (Y2935* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 493434	NM_001142800.2(EYS):c.8793_8796del (p.Gln2931fs)	EYS, PHF3 (Q2952fs +1 more)	Deletion (frameshift variant +1 more)	Retinal dystrophy +3 more	GConflicting classifications of pathogenicity
Select item 1355157	NM_001142800.2(EYS):c.8788del (p.Asp2930fs)	EYS, PHF3 (D2930fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 624249	NM_001142800.2(EYS):c.8779T>C (p.Cys2927Arg)	EYS, PHF3 (C2927R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +3 more	GPathogenic/Likely pathogenic
Select item 2093201	NM_001142800.2(EYS):c.8751_8754del (p.Asn2918fs)	EYS, PHF3 (N2939fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 957091	NM_001142800.2(EYS):c.8734C>T (p.Gln2912Ter)	PHF3, EYS (Q2912* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2832100	NM_001142800.2(EYS):c.8726del (p.Thr2909fs)	EYS, PHF3 (T2909fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 2675335	NM_001142800.2(EYS):c.8697C>A (p.Cys2899Ter)	EYS, PHF3 (C2899* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 943519	NM_001142800.2(EYS):c.8659G>T (p.Gly2887Ter)	EYS, PHF3 (G2887* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 550019	NM_001142800.2(EYS):c.8648_8655del (p.Thr2883fs)	EYS, PHF3 (T2883fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinal dystrophy +3 more	GPathogenic/Likely pathogenic
Select item 3241511	NM_001142800.2(EYS):c.8652C>A (p.Cys2884Ter)	EYS, PHF3 (C2884* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 1065672	NM_001142800.2(EYS):c.8606C>G (p.Ser2869Ter)	EYS, PHF3 (S2869* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +3 more	GPathogenic/Likely pathogenic
Select item 847608	NM_001142800.2(EYS):c.8598del (p.Gly2867fs)	EYS, PHF3 (G2888fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic
Select item 3241501	NM_001142800.2(EYS):c.8573del (p.Leu2858fs)	EYS, PHF3 (L2858fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 973363	NM_001142800.2(EYS):c.8565_8568del (p.Asn2855fs)	EYS, PHF3 (N2855fs +1 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 503517	NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter)	EYS, PHF3 (R2849* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy +2 more	GConflicting classifications of pathogenicity
Select item 1076446	NM_001142800.2(EYS):c.8543del (p.Ile2848fs)	EYS, PHF3 (I2848fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 1704515	NM_001142800.2(EYS):c.8541T>A (p.Cys2847Ter)	EYS, PHF3 (C2868* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinitis pigmentosa +1 more	GLikely pathogenic
Select item 2675237	NM_001142800.2(EYS):c.8455del (p.Thr2819fs)	EYS, PHF3 (T2819fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GPathogenic
Select item 2675293	NM_001142800.2(EYS):c.8413dup (p.Thr2805fs)	EYS, PHF3 (T2805fs +1 more)	Duplication (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GPathogenic
Select item 2675280	NM_001142800.2(EYS):c.8412_8413insCA (p.Thr2805fs)	EYS, PHF3 (T2805fs +1 more)	Insertion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2189841	NM_001142800.2(EYS):c.8411_8412insTT (p.Val2804_Thr2805insTer)	EYS, PHF3	Insertion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic
Select item 552866	NM_001142800.2(EYS):c.8411dup (p.Thr2805fs)	EYS, PHF3 (T2805fs +1 more)	Duplication (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 93622	NM_001142800.2(EYS):c.8408dup (p.Asn2803fs)	EYS, PHF3 (N2803fs +1 more)	Duplication (3 prime UTR variant +1 more)	not provided +2 more	GPathogenic
Select item 2675298	NM_001142800.2(EYS):c.8392del (p.Asp2798fs)	EYS, PHF3 (D2798fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided +1 more	GPathogenic
Select item 1520323	NM_001142800.2(EYS):c.8309T>C (p.Leu2770Pro)	EYS, PHF3 (L2791P +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GLikely pathogenic
Select item 2675278	NM_001142800.2(EYS):c.8254_8255del (p.Leu2752fs)	EYS, PHF3 (L2752fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 618633	NM_001142800.2(EYS):c.8243dup (p.Leu2748fs)	EYS, PHF3 (L2769fs +1 more)	Duplication (frameshift variant +1 more)	Retinitis pigmentosa 25 +2 more	GConflicting classifications of pathogenicity
Select item 2675288	NM_001142800.2(EYS):c.8242_8243del (p.Leu2748fs)	EYS, PHF3 (L2748fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GPathogenic
Select item 945068	NM_001142800.2(EYS):c.8243del (p.Leu2748fs)	EYS, PHF3 (L2769fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic/Likely pathogenic
Select item 3241504	NM_001142800.2(EYS):c.8236del (p.Asp2746fs)	EYS, PHF3 (D2746fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25	GLikely pathogenic
Select item 625706	GRCh37/hg19 6p22.1-q14.1(chr6:29455465-81447367)	ERVH-3, ETV7 +427 more	Copy number gain	not provided	GPathogenic

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Items: 75