Related gene-specific medical variations for Gene (Select 23469) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3212169	NM_001370348.2(PHF3):c.2117C>T (p.Ser706Phe)	LOC129996682, PHF3 (S618F +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3212168	NM_001370348.2(PHF3):c.2008C>G (p.Leu670Val)	LOC129996682, PHF3 (L670V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3091353	NM_001142800.2(EYS):c.8291G>T (p.Gly2764Val)	EYS, PHF3 (G2785V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3053849	NM_001370348.2(PHF3):c.1927G>A (p.Val643Met)	LOC129996682, PHF3 (V555M +1 more)	Single nucleotide variant (missense variant +1 more)	PHF3-related condition	GBenign
Select item 3050427	NM_001370348.2(PHF3):c.2163G>T (p.Gly721=)	LOC129996682, PHF3	Single nucleotide variant (synonymous variant +1 more)	PHF3-related condition	GLikely benign
Select item 3043326	NM_001370348.2(PHF3):c.2061A>G (p.Pro687=)	LOC129996682, PHF3	Single nucleotide variant (synonymous variant +1 more)	PHF3-related condition	GLikely benign
Select item 3027769	NM_001142800.2(EYS):c.8234G>A (p.Gly2745Asp)	EYS, PHF3 (G2745D +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027768	NM_001142800.2(EYS):c.8236G>C (p.Asp2746His)	EYS, PHF3 (D2746H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3027767	NM_001142800.2(EYS):c.8241_8243del (p.Phe2747del)	EYS, PHF3 (F2747del +1 more)	Deletion (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027766	NM_001142800.2(EYS):c.8299_8302del (p.Thr2767fs)	EYS, PHF3 (T2767fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027765	NM_001142800.2(EYS):c.8411T>A (p.Val2804Glu)	EYS, PHF3 (V2804E +1 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027764	NM_001142800.2(EYS):c.8469T>G (p.Ile2823Met)	EYS, PHF3 (I2823M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027763	NM_001142800.2(EYS):c.8474G>T (p.Gly2825Val)	EYS, PHF3 (G2825V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027762	NM_001142800.2(EYS):c.8534A>G (p.Gln2845Arg)	EYS, PHF3 (Q2845R +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027761	NM_001142800.2(EYS):c.8623G>C (p.Asp2875His)	EYS, PHF3 (D2875H +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027760	NM_001142800.2(EYS):c.8687del (p.Thr2896fs)	EYS, PHF3 (T2896fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinal dystrophy	GLikely pathogenic
Select item 3027759	NM_001142800.2(EYS):c.8695del (p.Cys2899fs)	EYS, PHF3 (C2899fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027758	NM_001142800.2(EYS):c.8812C>A (p.Leu2938Met)	EYS, PHF3 (L2938M +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GLikely benign
Select item 3027757	NM_001142800.2(EYS):c.8825G>T (p.Gly2942Val)	EYS, PHF3 (G2942V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027756	NM_001142800.2(EYS):c.8942_8943insGATA (p.Ser2983fs)	EYS, PHF3 (S2983fs +1 more)	Insertion (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027755	NM_001142800.2(EYS):c.8983_8992del (p.Ile2995fs)	EYS, PHF3 (I2995fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3027754	NM_001142800.2(EYS):c.9219T>A (p.His3073Gln)	EYS, PHF3 (H3073Q +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 3019489	NM_001142800.2(EYS):c.9324T>C (p.Phe3108=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3015650	NM_001142800.2(EYS):c.9291T>C (p.Asn3097=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3015254	NM_001142800.2(EYS):c.9434A>G (p.Ter3145=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3014258	NM_001142800.2(EYS):c.8811C>T (p.Cys2937=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3008202	NM_001142800.2(EYS):c.9321T>C (p.Asn3107=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2987214	NM_001142800.2(EYS):c.8490T>C (p.Asn2830=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2983968	NM_001142800.2(EYS):c.8749T>C (p.Leu2917=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2982046	NM_001142800.2(EYS):c.9316del (p.Thr3106fs)	EYS, PHF3 (T3106fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2982023	NM_001142800.2(EYS):c.8477dup (p.Ser2827fs)	EYS, PHF3 (S2827fs +1 more)	Duplication (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2975428	NM_001142800.2(EYS):c.8268C>T (p.Ser2756=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2968399	NM_001142800.2(EYS):c.8234-15T>C	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2907103	NM_001142800.2(EYS):c.9027G>A (p.Leu3009=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2906478	NM_001142800.2(EYS):c.9165T>C (p.Leu3055=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2891869	NM_001142800.2(EYS):c.8234-6T>C	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2891868	NM_001142800.2(EYS):c.8234-5T>C	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2891867	NM_001142800.2(EYS):c.8234-4del	EYS, PHF3	Deletion (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2889316	NM_001142800.2(EYS):c.8234-18C>T	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2876927	NM_001142800.2(EYS):c.8907T>C (p.Asp2969=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2875677	NM_001142800.2(EYS):c.8883T>C (p.Gly2961=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2873750	NM_001142800.2(EYS):c.8613A>C (p.Val2871=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2864852	NM_001142800.2(EYS):c.8389del (p.Leu2797fs)	EYS, PHF3 (L2797fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2861628	NM_001142800.2(EYS):c.9009T>C (p.Asn3003=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2856045	NM_001142800.2(EYS):c.8673A>C (p.Thr2891=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2855491	NM_001142800.2(EYS):c.9388G>T (p.Glu3130Ter)	EYS, PHF3 (E3151* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2853760	NM_001142800.2(EYS):c.8322_8325del (p.Gln2774_Lys2775insTer)	EYS, PHF3	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2852937	NM_001142800.2(EYS):c.9399del (p.Asn3133fs)	EYS, PHF3 (N3133fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2850660	NM_001142800.2(EYS):c.9293del (p.Ile3098fs)	EYS, PHF3 (I3098fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2845063	NM_001142800.2(EYS):c.8244A>G (p.Leu2748=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2844713	NM_001142800.2(EYS):c.8545C>A (p.Arg2849=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2843306	NM_001142800.2(EYS):c.9303A>G (p.Gln3101=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2841747	NM_001142800.2(EYS):c.8629_8633del (p.Thr2877fs)	EYS, PHF3 (T2877fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2838615	NM_001142800.2(EYS):c.8234-7C>T	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2836050	NM_001142800.2(EYS):c.8640G>A (p.Gly2880=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2833565	NM_001142800.2(EYS):c.8835A>G (p.Gly2945=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2832100	NM_001142800.2(EYS):c.8726del (p.Thr2909fs)	EYS, PHF3 (T2909fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2831865	NM_001142800.2(EYS):c.8983_8988del (p.Ile2995_Val2996del)	EYS, PHF3	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2829857	NM_001142800.2(EYS):c.9348A>G (p.Val3116=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2829159	NM_001142800.2(EYS):c.8410del (p.Asn2803_Val2804insTer)	EYS, PHF3	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2825432	NM_001142800.2(EYS):c.9417A>G (p.Glu3139=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2823612	NM_001142800.2(EYS):c.8831del (p.Val2944fs)	EYS, PHF3 (V2944fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2823467	NM_001142800.2(EYS):c.8643C>G (p.Tyr2881Ter)	EYS, PHF3 (Y2881* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2815985	NM_001142800.2(EYS):c.8409T>C (p.Asn2803=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2815817	NM_001142800.2(EYS):c.8574A>G (p.Leu2858=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2812769	NM_001142800.2(EYS):c.8847A>G (p.Glu2949=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2808696	NM_001142800.2(EYS):c.8439T>C (p.Ser2813=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2806384	NM_001142800.2(EYS):c.8727A>G (p.Thr2909=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2805629	NM_001142800.2(EYS):c.9111C>T (p.Gly3037=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2803427	NM_001142800.2(EYS):c.8913T>C (p.Asn2971=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2782211	NM_001142800.2(EYS):c.9397_9398dup (p.Asn3133fs)	EYS, PHF3 (N3133fs +1 more)	Duplication (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2779869	NM_001142800.2(EYS):c.8831dup (p.Arg2946fs)	EYS, PHF3 (R2946fs +1 more)	Duplication (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2765726	NM_001142800.2(EYS):c.8691_8692del (p.Ser2898fs)	EYS, PHF3 (S2898fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2765165	NM_001142800.2(EYS):c.9313A>T (p.Lys3105Ter)	EYS, PHF3 (K3126* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2764784	NM_001142800.2(EYS):c.8346T>G (p.Thr2782=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2764681	NM_001142800.2(EYS):c.9240_9273del (p.Tyr3081fs)	EYS, PHF3 (Y3081fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2763649	NM_001142800.2(EYS):c.8997A>T (p.Gly2999=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2756590	NM_001142800.2(EYS):c.8234-20T>C	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2755050	NM_001142800.2(EYS):c.8751G>A (p.Leu2917=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2754856	NM_001142800.2(EYS):c.8715G>A (p.Trp2905Ter)	EYS, PHF3 (W2905* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2753165	NM_001142800.2(EYS):c.8320C>T (p.Gln2774Ter)	EYS, PHF3 (Q2774* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2734778	NM_001142800.2(EYS):c.8772A>G (p.Gln2924=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2734090	NM_001142800.2(EYS):c.9157del (p.Gln3053fs)	EYS, PHF3 (Q3053fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2717677	NM_001142800.2(EYS):c.9147A>G (p.Val3049=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2707334	NM_001142800.2(EYS):c.8808T>C (p.Ser2936=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2699613	NM_001142800.2(EYS):c.9079A>T (p.Arg3027Ter)	EYS, PHF3 (R3027* +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GPathogenic
Select item 2697953	NM_001142800.2(EYS):c.8727A>C (p.Thr2909=)	EYS, PHF3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2695012	NM_001142800.2(EYS):c.8292C>T (p.Gly2764=)	EYS, PHF3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2694978	NM_001142800.2(EYS):c.8756del (p.Asn2919fs)	EYS, PHF3 (N2919fs +1 more)	Deletion (3 prime UTR variant +1 more)	not provided	GPathogenic
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 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 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 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 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 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 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 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 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 2675292	NM_001142800.2(EYS):c.9337_9350del (p.Lys3113fs)	EYS, PHF3 (K3113fs +1 more)	Deletion (3 prime UTR variant +1 more)	Retinitis pigmentosa 25 +1 more	GPathogenic
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

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