ClinVar for Gene (Select 24148) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3235944	GRCh38/hg38 20q13.13-13.33(chr20:50805746-64334135)	ABHD16B, ADNP +635 more	Copy number gain	20q13.13qter duplication	GPathogenic
Select item 3219212	NM_012469.4(PRPF6):c.850C>T (p.His284Tyr)	PRPF6 (H284Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219210	NM_012469.4(PRPF6):c.2321C>T (p.Pro774Leu)	PRPF6 (P774L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219209	NM_012469.4(PRPF6):c.1580G>A (p.Arg527His)	LOC126863090, PRPF6 (R527H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3219208	NM_012469.4(PRPF6):c.1369C>T (p.Arg457Trp)	PRPF6 (R457W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062416	GRCh37/hg19 20q13.33(chr20:62622315-62672032)x3	PRPF6	Copy number gain	not specified	GUncertain significance
Select item 3033889	NM_012469.4(PRPF6):c.1376A>G (p.Asn459Ser)	PRPF6 (N459S)	Single nucleotide variant (missense variant)	PRPF6-related disorder	GUncertain significance
Select item 3032197	NM_012469.4(PRPF6):c.438+7C>T	PRPF6	Single nucleotide variant (intron variant)	PRPF6-related disorder	GLikely benign
Select item 3028565	NM_012469.4(PRPF6):c.2639TCT[1] (p.Phe881del)	PRPF6 (F881del)	Microsatellite (inframe_deletion)	Retinal dystrophy	GLikely benign
Select item 3028563	NM_012469.4(PRPF6):c.2282G>A (p.Arg761Gln)	PRPF6 (R761Q)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028562	NM_012469.4(PRPF6):c.2185C>A (p.Arg729=)	PRPF6	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely benign
Select item 3028561	NM_012469.4(PRPF6):c.1842C>A (p.Gly614=)	PRPF6	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GBenign
Select item 3028560	NM_012469.4(PRPF6):c.1656C>G (p.Ala552=)	PRPF6	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GUncertain significance
Select item 3028559	NM_012469.4(PRPF6):c.1629G>A (p.Trp543Ter)	LOC126863090, PRPF6 (W543*)	Single nucleotide variant (nonsense)	Retinal dystrophy	GLikely pathogenic
Select item 3028558	NM_012469.4(PRPF6):c.1368G>C (p.Ala456=)	PRPF6	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GLikely benign
Select item 3028557	NM_012469.4(PRPF6):c.1337A>G (p.Tyr446Cys)	PRPF6 (Y446C)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028556	NM_012469.4(PRPF6):c.1159C>T (p.Arg387Cys)	PRPF6 (R387C)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028555	NM_012469.4(PRPF6):c.614C>G (p.Thr205Ser)	PRPF6 (T205S)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028554	NM_012469.4(PRPF6):c.538A>C (p.Thr180Pro)	PRPF6 (T180P)	Single nucleotide variant (missense variant)	Retinal dystrophy	GUncertain significance
Select item 3028552	NM_012469.4(PRPF6):c.132G>A (p.Val44=)	PRPF6	Single nucleotide variant (synonymous variant)	Retinal dystrophy	GBenign
Select item 3027111	NM_012469.4(PRPF6):c.1181G>A (p.Arg394Gln)	PRPF6 (R394Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3008835	NM_012469.4(PRPF6):c.1524+20C>T	LOC126863089, PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007381	NM_012469.4(PRPF6):c.1579C>T (p.Arg527Cys)	LOC126863090, PRPF6 (R527C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3004924	NM_012469.4(PRPF6):c.2431+9G>A	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3004886	NM_012469.4(PRPF6):c.2399T>C (p.Met800Thr)	PRPF6 (M800T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3003469	NM_012469.4(PRPF6):c.583G>A (p.Glu195Lys)	PRPF6 (E195K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000764	NM_012469.4(PRPF6):c.2094C>T (p.Cys698=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2997747	NM_012469.4(PRPF6):c.2483C>A (p.Thr828Asn)	PRPF6 (T828N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2995527	NM_012469.4(PRPF6):c.1306-15G>A	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2988693	NM_012469.4(PRPF6):c.543T>C (p.Pro181=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985110	NM_012469.4(PRPF6):c.2339+13G>T	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982961	NM_012469.4(PRPF6):c.2340-19C>T	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981016	NM_012469.4(PRPF6):c.580G>A (p.Gly194Arg)	PRPF6 (G194R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2977792	NM_012469.4(PRPF6):c.2491G>A (p.Val831Met)	PRPF6 (V831M)	Single nucleotide variant (missense variant)	Retinal dystrophy +1 more	GConflicting classifications of pathogenicity
Select item 2975519	NM_012469.4(PRPF6):c.2550G>A (p.Leu850=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2974375	NM_012469.4(PRPF6):c.2776A>T (p.Ile926Phe)	PRPF6 (I926F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2968912	NM_012469.4(PRPF6):c.2673+13G>A	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2965779	NM_012469.4(PRPF6):c.1180C>T (p.Arg394Trp)	PRPF6 (R394W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2965168	NM_012469.4(PRPF6):c.1647+15G>A	LOC126863090, PRPF6	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2964595	NM_012469.4(PRPF6):c.2679G>A (p.Gln893=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2963741	NM_012469.4(PRPF6):c.2431+13C>T	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963332	NM_012469.4(PRPF6):c.1305+12G>A	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2961447	NM_012469.4(PRPF6):c.2772G>T (p.Lys924Asn)	PRPF6 (K924N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2960032	NM_012469.4(PRPF6):c.681G>A (p.Thr227=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2959497	NM_012469.4(PRPF6):c.1138G>A (p.Ala380Thr)	PRPF6 (A380T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2956697	NM_012469.4(PRPF6):c.1305+17C>T	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2910469	NM_012469.4(PRPF6):c.2563C>T (p.Arg855Trp)	PRPF6 (R855W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2884998	NM_012469.4(PRPF6):c.2353C>T (p.Arg785Trp)	PRPF6 (R785W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881534	NM_012469.4(PRPF6):c.589C>G (p.His197Asp)	PRPF6 (H197D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2881172	NM_012469.4(PRPF6):c.1647+9G>C	LOC126863090, PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2880606	NM_012469.4(PRPF6):c.1476C>T (p.Thr492=)	LOC126863089, PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2876676	NM_012469.4(PRPF6):c.2565G>A (p.Arg855=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874018	NM_012469.4(PRPF6):c.838A>G (p.Met280Val)	PRPF6 (M280V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2873760	NM_012469.4(PRPF6):c.2546+11C>A	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2867883	NM_012469.4(PRPF6):c.1135_1136delinsAG (p.Ala379Ser)	PRPF6 (A379S)	Indel (missense variant)	not provided	GUncertain significance
Select item 2854058	NM_012469.4(PRPF6):c.1024-6T>G	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2853330	NM_012469.4(PRPF6):c.1306-12C>G	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2846781	NM_012469.4(PRPF6):c.2187G>A (p.Arg729=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2844787	NM_012469.4(PRPF6):c.2298G>A (p.Leu766=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2836440	NM_012469.4(PRPF6):c.188A>C (p.Asn63Thr)	PRPF6 (N63T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2833841	NM_012469.4(PRPF6):c.2546+7G>A	PRPF6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2828019	NM_012469.4(PRPF6):c.2112C>G (p.His704Gln)	PRPF6 (H704Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2827943	NM_012469.4(PRPF6):c.1348C>T (p.Arg450Cys)	PRPF6 (R450C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2821283	NM_012469.4(PRPF6):c.2079A>C (p.Ala693=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2817406	NM_012469.4(PRPF6):c.906G>A (p.Arg302=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2815968	NM_012469.4(PRPF6):c.2644T>C (p.Tyr882His)	PRPF6 (Y882H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814728	NM_012469.4(PRPF6):c.1769+1G>A	PRPF6	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
Select item 2813952	NM_012469.4(PRPF6):c.674G>A (p.Gly225Glu)	PRPF6 (G225E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2811873	NM_012469.4(PRPF6):c.1023+17G>T	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811169	NM_012469.4(PRPF6):c.71+15G>C	LOC130066413, PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2809230	NM_012469.4(PRPF6):c.854G>A (p.Gly285Glu)	PRPF6 (G285E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808882	NM_012469.4(PRPF6):c.1524+2_1524+4del	LOC126863089, PRPF6	Deletion (splice donor variant)	not provided	GUncertain significance
Select item 2802401	NM_012469.4(PRPF6):c.1216T>C (p.Leu406=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801217	NM_012469.4(PRPF6):c.1985G>A (p.Arg662Gln)	PRPF6 (R662Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2800943	NM_012469.4(PRPF6):c.2028+4C>T	PRPF6	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2797644	NM_012469.4(PRPF6):c.2340-6C>T	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2795013	NM_012469.4(PRPF6):c.2781G>C (p.Gly927=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2788071	NM_012469.4(PRPF6):c.2218C>G (p.Pro740Ala)	PRPF6 (P740A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786556	NM_012469.4(PRPF6):c.1759C>T (p.His587Tyr)	PRPF6 (H587Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786269	NM_012469.4(PRPF6):c.2646C>T (p.Tyr882=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782070	NM_012469.4(PRPF6):c.867-7C>G	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2767667	NM_012469.4(PRPF6):c.1459A>G (p.Ile487Val)	PRPF6 (I487V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2750177	NM_012469.4(PRPF6):c.491G>A (p.Gly164Asp)	PRPF6 (G164D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2748352	NM_012469.4(PRPF6):c.1682C>T (p.Ala561Val)	PRPF6 (A561V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2747935	NM_012469.4(PRPF6):c.439-10A>T	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2747495	NM_012469.4(PRPF6):c.2206T>C (p.Leu736=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2746289	NM_012469.4(PRPF6):c.1186+10C>G	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2745741	NM_012469.4(PRPF6):c.996C>T (p.Ile332=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2734361	NM_012469.4(PRPF6):c.267C>T (p.Phe89=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2719202	NM_012469.4(PRPF6):c.2129A>G (p.Lys710Arg)	PRPF6 (K710R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2706054	NM_012469.4(PRPF6):c.774G>A (p.Val258=)	PRPF6	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2701182	NM_012469.4(PRPF6):c.1306-20C>G	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2697413	NM_012469.4(PRPF6):c.1818del (p.Ala607fs)	PRPF6 (A607fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2692809	NM_012469.4(PRPF6):c.2547-6G>A	PRPF6	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2685653	GRCh37/hg19 20q13.33(chr20:62347562-62915555)x1	ABHD16B, DNAJC5 +17 more	Copy number loss	not provided	GUncertain significance
Select item 2684909	GRCh37/hg19 20q13.33(chr20:61986902-62690224)x3	ABHD16B, ARFRP1 +24 more	Copy number gain	not provided	GUncertain significance
Select item 2619605	NM_012469.4(PRPF6):c.1019C>T (p.Pro340Leu)	PRPF6 (P340L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580344	GRCh37/hg19 20q13.2-13.33(chr20:52773668-62965020)x3	ABHD16B, ADRM1 +113 more	Copy number gain	See cases	GUncertain significance
Select item 2545485	NM_012469.4(PRPF6):c.481C>G (p.Pro161Ala)	PRPF6 (P161A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2532624	NM_012469.4(PRPF6):c.2329C>G (p.Pro777Ala)	PRPF6 (P777A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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