ClinVar for Gene (Select 10516) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3364607	NM_006329.4(FBLN5):c.871G>T (p.Glu291Ter)	FBLN5 (E235* +3 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 3353248	NM_006329.4(FBLN5):c.247C>A (p.Pro83Thr)	FBLN5 (P100T +3 more)	Single nucleotide variant (missense variant)	FBLN5-related disorder	GUncertain significance
Select item 3344548	NM_006329.4(FBLN5):c.188A>C (p.Asn63Thr)	FBLN5 (N104T +3 more)	Single nucleotide variant (missense variant)	FBLN5-related disorder	GUncertain significance
Select item 3337097	NM_006329.4(FBLN5):c.451T>G (p.Tyr151Asp)	FBLN5 (Y151D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3277933	NM_006329.4(FBLN5):c.1015C>G (p.Pro339Ala)	FBLN5 (P339A +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3244087	NC_000014.8:g.(?_92413537)_(92491784_?)dup	FBLN5, TRIP11	Duplication	not provided	GUncertain significance
Select item 3239536	NM_006329.4(FBLN5):c.354G>C (p.Gln118His)	FBLN5 (Q118H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3233804	NM_006329.4(FBLN5):c.609G>A (p.Arg203=)	FBLN5	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3093350	NM_006329.4(FBLN5):c.1201A>G (p.Ser401Gly)	FBLN5 (S442G +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3067727	NM_006329.4(FBLN5):c.808T>C (p.Phe270Leu)	FBLN5 (F214L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3065380	NM_006329.4(FBLN5):c.160C>T (p.Arg54Ter)	FBLN5 (R54* +2 more)	Single nucleotide variant (nonsense +1 more)	Charcot-Marie-Tooth disease, demyelinating, IIA 1H	GLikely pathogenic
Select item 3026369	NM_006329.4(FBLN5):c.125-1200C>G	FBLN5 (A59G)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 3012747	NM_006329.4(FBLN5):c.1004C>T (p.Pro335Leu)	FBLN5 (P279L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011671	NM_006329.4(FBLN5):c.323C>A (p.Ser108Tyr)	FBLN5 (S125Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3011200	NM_006329.4(FBLN5):c.635C>T (p.Ala212Val)	FBLN5 (A229V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3010044	NM_006329.4(FBLN5):c.257C>A (p.Thr86Asn)	FBLN5 (T30N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3009882	NM_006329.4(FBLN5):c.1185+20G>A	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3007751	NM_006329.4(FBLN5):c.87T>C (p.Asn29=)	FBLN5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3005641	NM_006329.4(FBLN5):c.1297G>A (p.Gly433Ser)	FBLN5 (G433S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3001487	NM_006329.4(FBLN5):c.271C>T (p.Pro91Ser)	FBLN5 (P108S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000709	NM_006329.4(FBLN5):c.1157G>A (p.Gly386Glu)	FBLN5 (G330E +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3000200	NM_006329.4(FBLN5):c.739+5T>C	FBLN5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2999488	NM_006329.4(FBLN5):c.448G>A (p.Gly150Arg)	FBLN5 (G94R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999260	NM_006329.4(FBLN5):c.17+12G>A	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2997697	NM_006329.4(FBLN5):c.152A>C (p.Glu51Ala)	FBLN5 (E51A +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2996585	NM_006329.4(FBLN5):c.380-13G>A	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995411	NM_006329.4(FBLN5):c.17+18G>A	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2995346	NM_006329.4(FBLN5):c.97C>T (p.Leu33=)	FBLN5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2994850	NM_006329.4(FBLN5):c.740-19G>A	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2993402	NM_006329.4(FBLN5):c.489A>G (p.Glu163=)	FBLN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2992901	NM_006329.4(FBLN5):c.72+18A>T	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2992678	NM_006329.4(FBLN5):c.640G>A (p.Glu214Lys)	FBLN5 (E158K +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2989695	NM_006329.4(FBLN5):c.19A>T (p.Ile7Leu)	FBLN5 (I7L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2987943	NM_006329.4(FBLN5):c.1334A>C (p.Gln445Pro)	FBLN5 (Q486P +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 2987079	NM_006329.4(FBLN5):c.246C>T (p.Asn82=)	FBLN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2986938	NM_006329.4(FBLN5):c.1186-3T>C	FBLN5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2985689	NM_006329.4(FBLN5):c.1186-5C>T	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981200	NM_006329.4(FBLN5):c.635C>A (p.Ala212Asp)	FBLN5 (A156D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2975275	NM_006329.4(FBLN5):c.63G>A (p.Gly21=)	FBLN5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2968544	NM_006329.4(FBLN5):c.1275C>T (p.Val425=)	FBLN5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2962805	NM_006329.4(FBLN5):c.590C>T (p.Thr197Ile)	FBLN5 (T141I +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2962505	NM_006329.4(FBLN5):c.663C>T (p.Cys221=)	FBLN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2960101	NM_006329.4(FBLN5):c.1186-15C>T	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2958893	NM_006329.4(FBLN5):c.198T>C (p.Tyr66=)	FBLN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2955023	NM_006329.4(FBLN5):c.1138A>G (p.Ile380Val)	FBLN5 (I324V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2905676	NM_006329.4(FBLN5):c.469G>A (p.Asp157Asn)	FBLN5 (D101N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2902814	NM_006329.4(FBLN5):c.989+10G>A	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2898488	NM_006329.4(FBLN5):c.72+9T>G	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2894433	NM_006329.4(FBLN5):c.324C>T (p.Ser108=)	FBLN5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2882131	NM_006329.4(FBLN5):c.479G>A (p.Trp160Ter)	FBLN5 (W160* +3 more)	Single nucleotide variant (nonsense)	Cutis laxa, autosomal recessive, type 1A	GPathogenic
Select item 2881800	NM_006329.4(FBLN5):c.35T>C (p.Ile12Thr)	FBLN5 (I29T +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2880439	NM_006329.4(FBLN5):c.252C>T (p.Tyr84=)	FBLN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2875602	NM_006329.4(FBLN5):c.989+15C>G	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2869793	NM_006329.4(FBLN5):c.61G>A (p.Gly21Arg)	FBLN5 (G38R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2869423	NM_006329.4(FBLN5):c.729T>G (p.Val243=)	FBLN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2868888	NM_006329.4(FBLN5):c.970T>C (p.Tyr324His)	FBLN5 (Y365H +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2868592	NM_006329.4(FBLN5):c.310T>A (p.Tyr104Asn)	FBLN5 (Y104N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867779	NM_006329.4(FBLN5):c.454A>G (p.Thr152Ala)	FBLN5 (T96A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867501	NM_006329.4(FBLN5):c.778C>T (p.His260Tyr)	FBLN5 (H277Y +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2867093	NM_006329.4(FBLN5):c.863-11dup	FBLN5	Duplication (intron variant)	not provided	GBenign
Select item 2863777	NM_006329.4(FBLN5):c.318G>T (p.Thr106=)	FBLN5	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2858367	NM_006329.4(FBLN5):c.1152A>T (p.Lys384Asn)	FBLN5 (K425N +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2857934	NM_006329.4(FBLN5):c.981C>T (p.Ile327=)	FBLN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2855419	NM_006329.4(FBLN5):c.503-9T>C	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2842928	NM_006329.4(FBLN5):c.513A>C (p.Glu171Asp)	FBLN5 (E115D +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2841893	NM_006329.4(FBLN5):c.990-18T>C	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2840205	NM_006329.4(FBLN5):c.125-17C>T	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2839470	NM_006329.4(FBLN5):c.929G>C (p.Gly310Ala)	FBLN5 (G254A +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2838985	NM_006329.4(FBLN5):c.651C>G (p.Cys217Trp)	FBLN5 (C234W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2829357	NM_006329.4(FBLN5):c.779A>G (p.His260Arg)	FBLN5 (H301R +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2825329	NM_006329.4(FBLN5):c.45_46del (p.Cys16fs)	FBLN5 (C33fs +1 more)	Microsatellite (frameshift variant +1 more)	not provided	GUncertain significance
Select item 2824361	NM_006329.4(FBLN5):c.949C>A (p.Pro317Thr)	FBLN5 (P261T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2823264	NM_006329.4(FBLN5):c.863-7A>G	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2821710	NM_006329.4(FBLN5):c.645C>T (p.Asn215=)	FBLN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2821244	NM_006329.4(FBLN5):c.862+6G>A	FBLN5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2812786	NM_006329.4(FBLN5):c.380-6T>A	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2811148	NM_006329.4(FBLN5):c.195G>T (p.Gly65=)	FBLN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2809409	NM_006329.4(FBLN5):c.17+6T>G	FBLN5	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2809360	NM_006329.4(FBLN5):c.125-19C>T	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2806380	NM_006329.4(FBLN5):c.740-4C>T	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2805974	NM_006329.4(FBLN5):c.1175T>G (p.Phe392Cys)	FBLN5 (F409C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2803897	NM_006329.4(FBLN5):c.6A>G (p.Pro2=)	FBLN5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2801462	NM_006329.4(FBLN5):c.917A>G (p.Tyr306Cys)	FBLN5 (Y347C +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797677	NM_006329.4(FBLN5):c.1057A>G (p.Met353Val)	FBLN5 (M394V +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2797147	NM_006329.4(FBLN5):c.47G>A (p.Cys16Tyr)	FBLN5 (C16Y +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2797146	NM_006329.4(FBLN5):c.56G>A (p.Ser19Asn)	FBLN5 (S36N +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2795877	NM_006329.4(FBLN5):c.1245A>G (p.Glu415=)	FBLN5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2795679	NM_006329.4(FBLN5):c.576C>T (p.Cys192=)	FBLN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2793963	NM_006329.4(FBLN5):c.871G>C (p.Glu291Gln)	FBLN5 (E308Q +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2791478	NM_006329.4(FBLN5):c.166G>A (p.Asp56Asn)	FBLN5 (D73N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2790655	NM_006329.4(FBLN5):c.330T>C (p.Pro110=)	FBLN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2787537	NM_006329.4(FBLN5):c.716A>G (p.Glu239Gly)	FBLN5 (E280G +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2787316	NM_006329.4(FBLN5):c.299C>T (p.Ser100Leu)	FBLN5 (S141L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2786505	NM_006329.4(FBLN5):c.990-19G>T	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784513	NM_006329.4(FBLN5):c.17+11G>A	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2784123	NM_006329.4(FBLN5):c.1015C>T (p.Pro339Ser)	FBLN5 (P339S +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2783062	NM_006329.4(FBLN5):c.1014C>T (p.Asn338=)	FBLN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2782942	NM_006329.4(FBLN5):c.17+10C>G	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781418	NM_006329.4(FBLN5):c.1283T>G (p.Val428Gly)	FBLN5 (V469G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2780769	NM_006329.4(FBLN5):c.73-16C>T	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign

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