10516[geneid] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155306	GRCh38/hg38 14q11.2-32.33(chr14:20043514-106877229)x3	LOC126861920, LOC126861921 +3280 more	Copy number gain	See cases	GPathogenic
Select item 146230	GRCh38/hg38 14q11.2-32.33(chr14:20151149-106855263)x3	GSC, GSC-DT +3275 more	Copy number gain	See cases	GPathogenic
Select item 144518	GRCh38/hg38 14q24.3-32.33(chr14:73655772-106879298)x3	ESRRB, EVL +1421 more	Copy number gain	See cases	GPathogenic
Select item 149176	GRCh38/hg38 14q24.3-32.33(chr14:77222795-106879298)x3	ADCK1, ADSS1 +1202 more	Copy number gain	See cases	GPathogenic
Select item 58526	GRCh38/hg38 14q31.3-32.33(chr14:86094030-106832642)x3	LOC130056672, LOC130056673 +1071 more	Copy number gain	See cases	GPathogenic
Select item 57811	GRCh38/hg38 14q32.11-32.13(chr14:90255156-95274696)x1	ASB2, ATXN3 +201 more	Copy number loss	See cases	GPathogenic
Select item 58527	GRCh38/hg38 14q32.12-32.33(chr14:91455861-106832642)x3	ADSS1, AHNAK2 +880 more	Copy number gain	See cases	GPathogenic
Select item 314859	NM_006329.4(FBLN5):c.*775A>C	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314860	NM_006329.4(FBLN5):c.*653G>A	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314861	NM_006329.4(FBLN5):c.*648G>A	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GConflicting classifications of pathogenicity
Select item 314862	NM_006329.4(FBLN5):c.*647C>T	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GBenign/Likely benign
Select item 314863	NM_006329.4(FBLN5):c.*623A>T	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +2 more	GBenign
Select item 314864	NM_006329.4(FBLN5):c.*514A>G	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +2 more	GBenign/Likely benign
Select item 314865	NM_006329.4(FBLN5):c.*458T>C	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 887134	NM_006329.4(FBLN5):c.*426C>T	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314866	NM_006329.4(FBLN5):c.*423T>C	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GBenign/Likely benign
Select item 888397	NM_006329.4(FBLN5):c.*419G>C	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314867	NM_006329.4(FBLN5):c.*363C>T	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314868	NM_006329.4(FBLN5):c.*329T>C	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GBenign
Select item 314869	NM_006329.4(FBLN5):c.*326G>A	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GBenign
Select item 885288	NM_006329.4(FBLN5):c.*121C>T	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 314870	NM_006329.4(FBLN5):c.*98G>A	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 885289	NM_006329.4(FBLN5):c.*77T>A	FBLN5	Single nucleotide variant (3 prime UTR variant)	Cutis laxa +1 more	GUncertain significance
Select item 1414456	NM_006329.4(FBLN5):c.1342T>C (p.Phe448Leu)	FBLN5 (F448L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 513302	NM_006329.4(FBLN5):c.1341A>G (p.Pro447=)	FBLN5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1943808	NM_006329.4(FBLN5):c.1335G>C (p.Gln445His)	FBLN5 (Q445H +3 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	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 866695	NM_006329.4(FBLN5):c.1334A>T (p.Gln445Leu)	FBLN5 (Q445L +3 more)	Single nucleotide variant (missense variant +1 more)	Retinal dystrophy	GUncertain significance
Select item 2192458	NM_006329.4(FBLN5):c.1332G>A (p.Ser444=)	FBLN5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1538364	NM_006329.4(FBLN5):c.1332G>T (p.Ser444=)	FBLN5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 870929	NM_006329.4(FBLN5):c.1331C>T (p.Ser444Leu)	FBLN5 (S444L +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1346880	NM_006329.4(FBLN5):c.1327G>A (p.Val443Met)	FBLN5 (V387M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1519869	NM_006329.4(FBLN5):c.1323A>G (p.Ile441Met)	FBLN5 (I441M +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1569699	NM_006329.4(FBLN5):c.1320G>A (p.Arg440=)	FBLN5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1522651	NM_006329.4(FBLN5):c.1319G>A (p.Arg440Gln)	FBLN5 (R481Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 667236	NM_006329.4(FBLN5):c.1318C>T (p.Arg440Trp)	FBLN5 (R440W +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GUncertain significance
Select item 1981216	NM_006329.4(FBLN5):c.1313G>A (p.Arg438Gln)	FBLN5 (R438Q +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2644460	NM_006329.4(FBLN5):c.1312C>T (p.Arg438Ter)	FBLN5 (R382* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2084196	NM_006329.4(FBLN5):c.1310T>C (p.Ile437Thr)	FBLN5 (I381T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1032428	NM_006329.4(FBLN5):c.1307T>A (p.Val436Glu)	FBLN5 (V436E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1941275	NM_006329.4(FBLN5):c.1305C>T (p.Ser435=)	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 1373685	NM_006329.4(FBLN5):c.1286T>C (p.Ile429Thr)	FBLN5 (I446T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1952797	NM_006329.4(FBLN5):c.1285A>G (p.Ile429Val)	FBLN5 (I429V +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 2968544	NM_006329.4(FBLN5):c.1275C>T (p.Val425=)	FBLN5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1518497	NM_006329.4(FBLN5):c.1262A>C (p.Glu421Ala)	FBLN5 (E462A +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1989626	NM_006329.4(FBLN5):c.1260G>A (p.Leu420=)	FBLN5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1385632	NM_006329.4(FBLN5):c.1256A>G (p.Asp419Gly)	FBLN5 (D419G +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1496618	NM_006329.4(FBLN5):c.1252C>G (p.Leu418Val)	FBLN5 (L459V +3 more)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2042408	NM_006329.4(FBLN5):c.1251G>T (p.Gln417His)	FBLN5 (Q434H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1463058	NM_006329.4(FBLN5):c.1246A>G (p.Ile416Val)	FBLN5 (I360V +3 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 (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 885290	NM_006329.4(FBLN5):c.1241G>A (p.Arg414Gln)	FBLN5 (R414Q +3 more)	Single nucleotide variant (missense variant +1 more)	Macular degeneration, age-related, 3 +2 more	GConflicting classifications of pathogenicity
Select item 1800802	NM_006329.4(FBLN5):c.1240C>T (p.Arg414Trp)	FBLN5 (R358W +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1670599	NM_006329.4(FBLN5):c.1239C>G (p.Pro413=)	FBLN5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2069509	NM_006329.4(FBLN5):c.1237C>T (p.Pro413Ser)	FBLN5 (P430S +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2728559	NM_006329.4(FBLN5):c.1236G>T (p.Gly412=)	FBLN5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 5483	NM_006329.4(FBLN5):c.1235G>A (p.Gly412Glu)	FBLN5 (G412E +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1956967	NM_006329.4(FBLN5):c.1232A>G (p.Lys411Arg)	FBLN5 (K355R +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2017076	NM_006329.4(FBLN5):c.1231A>T (p.Lys411Ter)	FBLN5 (K411* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2105691	NM_006329.4(FBLN5):c.1230C>T (p.Ile410=)	FBLN5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1462529	NM_006329.4(FBLN5):c.1229T>C (p.Ile410Thr)	FBLN5 (I410T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 387737	NM_006329.4(FBLN5):c.1228A>G (p.Ile410Val)	FBLN5 (I410V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1963289	NM_006329.4(FBLN5):c.1227C>T (p.Pro409=)	FBLN5	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2180121	NM_006329.4(FBLN5):c.1226C>T (p.Pro409Leu)	FBLN5 (P353L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 1483094	NM_006329.4(FBLN5):c.1223G>A (p.Arg408His)	FBLN5 (R352H +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1948568	NM_006329.4(FBLN5):c.1222C>T (p.Arg408Cys)	FBLN5 (R352C +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1578676	NM_006329.4(FBLN5):c.1212G>C (p.Leu404=)	FBLN5 (W408S +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1479111	NM_006329.4(FBLN5):c.1204G>A (p.Ala402Thr)	FBLN5 (A443T +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 689758	NM_006329.4(FBLN5):c.1201_1202del (p.Ser401fs)	FBLN5 (S401fs +5 more)	Deletion (frameshift variant)	Cutis laxa, autosomal recessive, type 1A +2 more	GPathogenic
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 1639180	NM_006329.4(FBLN5):c.1194C>T (p.Gly398=)	FBLN5 (A402V +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2128302	NM_006329.4(FBLN5):c.1191G>T (p.Thr397=)	FBLN5 (R401L +1 more)	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 314871	NM_006329.4(FBLN5):c.1191G>A (p.Thr397=)	FBLN5 (R401Q +1 more)	Single nucleotide variant (synonymous variant +1 more)	Cutis laxa +2 more	GConflicting classifications of pathogenicity
Select item 2160053	NM_006329.4(FBLN5):c.1190C>T (p.Thr397Met)	FBLN5 (T341M +5 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 2050197	NM_006329.4(FBLN5):c.1186-13G>A	FBLN5	Single nucleotide variant (intron 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 1945547	NM_006329.4(FBLN5):c.1186-17C>T	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1543195	NM_006329.4(FBLN5):c.1186-18C>A	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1643755	NM_006329.4(FBLN5):c.1186-19T>C	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1227228	NM_006329.4(FBLN5):c.1186-46A>G	FBLN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 683869	NM_006329.4(FBLN5):c.1186-260G>A	FBLN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293197	NM_006329.4(FBLN5):c.1185+67G>A	FBLN5	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1988839	NM_006329.4(FBLN5):c.1185+18_1185+24del	FBLN5	Microsatellite (intron variant)	not provided	GLikely benign
Select item 3009882	NM_006329.4(FBLN5):c.1185+20G>A	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 390012	NM_006329.4(FBLN5):c.1185+18G>A	FBLN5	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1969985	NM_006329.4(FBLN5):c.1185+15G>A	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1609157	NM_006329.4(FBLN5):c.1185+14G>A	FBLN5	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1439713	NM_006329.4(FBLN5):c.1185+6_1185+12del	FBLN5	Deletion (intron variant)	not provided	GUncertain significance
Select item 417872	NM_006329.4(FBLN5):c.1183C>T (p.Arg395Trp)	FBLN5 (R395W +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1922698	NM_006329.4(FBLN5):c.1179C>T (p.Tyr393=)	FBLN5	Single nucleotide variant (synonymous 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 1320391	NM_006329.4(FBLN5):c.1174T>C (p.Phe392Leu)	FBLN5 (F336L +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 21451	NM_006329.4(FBLN5):c.1171G>T (p.Glu391Ter)	FBLN5 (E391* +3 more)	Single nucleotide variant (nonsense)	Cutis laxa, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 2480866	NM_006329.4(FBLN5):c.1161T>G (p.Asn387Lys)	FBLN5 (N387K +3 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1950676	NM_006329.4(FBLN5):c.1161T>C (p.Asn387=)	FBLN5	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1485848	NM_006329.4(FBLN5):c.1160A>C (p.Asn387Thr)	FBLN5 (N331T +3 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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