4006[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 296880	NM_000147.5(FUCA1):c.*544T>A	FUCA1	Single nucleotide variant (3 prime UTR variant)	Fucosidosis	GUncertain significance
Select item 296881	NM_000147.5(FUCA1):c.*527A>G	FUCA1	Single nucleotide variant (3 prime UTR variant)	Fucosidosis	GUncertain significance
Select item 296882	NM_000147.5(FUCA1):c.438_442del	FUCA1	Deletion (3 prime UTR variant)	Fucosidosis	GUncertain significance
Select item 875348	NM_000147.5(FUCA1):c.*342C>A	FUCA1	Single nucleotide variant (3 prime UTR variant)	Fucosidosis	GUncertain significance
Select item 296883	NM_000147.5(FUCA1):c.*286C>A	FUCA1	Single nucleotide variant (3 prime UTR variant)	Fucosidosis	GUncertain significance
Select item 296884	NM_000147.5(FUCA1):c.*270T>C	FUCA1	Single nucleotide variant (3 prime UTR variant)	Fucosidosis	GUncertain significance
Select item 875404	NM_000147.5(FUCA1):c.*97T>C	FUCA1	Single nucleotide variant (3 prime UTR variant)	Fucosidosis	GUncertain significance
Select item 1351082	NM_000147.5(FUCA1):c.1392A>T (p.Gly464=)	FUCA1	Single nucleotide variant (synonymous variant)	Fucosidosis	GUncertain significance
Select item 1588988	NM_000147.5(FUCA1):c.1386G>C (p.Leu462=)	FUCA1	Single nucleotide variant (synonymous variant)	Fucosidosis	GLikely benign
Select item 1389947	NM_000147.5(FUCA1):c.1384C>A (p.Leu462Met)	FUCA1 (L462M)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 1408507	NM_000147.5(FUCA1):c.1378A>G (p.Ile460Val)	FUCA1 (I460V)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1495120	NM_000147.5(FUCA1):c.1360G>A (p.Ala454Thr)	FUCA1 (A454T)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 1144782	NM_000147.5(FUCA1):c.1359C>T (p.Pro453=)	FUCA1	Single nucleotide variant (synonymous variant)	Fucosidosis	GLikely benign
Select item 733786	NM_000147.5(FUCA1):c.1347C>A (p.Pro449=)	FUCA1	Single nucleotide variant (synonymous variant)	Fucosidosis	GLikely benign
Select item 1370016	NM_000147.5(FUCA1):c.1335C>G (p.Pro445=)	FUCA1	Single nucleotide variant (synonymous variant)	Fucosidosis	GLikely benign
Select item 754188	NM_000147.5(FUCA1):c.1326C>T (p.Ile442=)	FUCA1	Single nucleotide variant (synonymous variant)	Fucosidosis	GLikely benign
Select item 2742157	NM_000147.5(FUCA1):c.1323C>T (p.Phe441=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2024030	NM_000147.5(FUCA1):c.1320C>G (p.Leu440=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 1515477	NM_000147.5(FUCA1):c.1309G>C (p.Asp437His)	FUCA1 (D437H)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 2445830	NM_000147.5(FUCA1):c.1289_1301del (p.Leu430fs)	FUCA1 (L430fs)	Deletion (non-coding transcript variant +1 more)	Fucosidosis	GPathogenic/Likely pathogenic
Select item 859832	NM_000147.5(FUCA1):c.1295G>A (p.Trp432Ter)	FUCA1 (W432*)	Single nucleotide variant (nonsense)	Fucosidosis	GUncertain significance
Select item 2079874	NM_000147.5(FUCA1):c.1286A>G (p.Asp429Gly)	FUCA1 (D429G)	Single nucleotide variant (missense variant +1 more)	Fucosidosis	GUncertain significance
Select item 1328977	NM_000147.5(FUCA1):c.1285_1286insT (p.Asp429fs)	FUCA1 (D429fs)	Insertion (frameshift variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 2692952	NM_000147.5(FUCA1):c.1281A>G (p.Gln427=)	FUCA1	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GLikely benign
Select item 681	NM_000147.5(FUCA1):c.1279C>T (p.Gln427Ter)	FUCA1 (Q427*)	Single nucleotide variant (nonsense)	Fucosidosis	GPathogenic
Select item 456362	NM_000147.5(FUCA1):c.1274G>A (p.Gly425Glu)	FUCA1 (G425E)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 1663731	NM_000147.5(FUCA1):c.1272G>T (p.Leu424=)	FUCA1	Single nucleotide variant (synonymous variant)	Fucosidosis	GLikely benign
Select item 2897786	NM_000147.5(FUCA1):c.1266A>G (p.Thr422=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2907270	NM_000147.5(FUCA1):c.1261-1G>A	FUCA1	Single nucleotide variant (splice acceptor variant)	Fucosidosis	GLikely pathogenic
Select item 2856296	NM_000147.5(FUCA1):c.1261-14T>A	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2884907	NM_000147.5(FUCA1):c.1261-18C>T	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 1590959	NM_000147.5(FUCA1):c.1260+14_1260+15insGACTGACTAA	FUCA1	Insertion (intron variant)	Fucosidosis	GLikely benign
Select item 2070949	NM_000147.5(FUCA1):c.1260+14G>C	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 1620654	NM_000147.5(FUCA1):c.1260+14G>A	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 3012164	NM_000147.5(FUCA1):c.1260+8G>A	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 875405	NM_000147.5(FUCA1):c.1260+7A>C	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GConflicting classifications of pathogenicity
Select item 2873243	NM_000147.5(FUCA1):c.1260+2T>A	FUCA1	Single nucleotide variant (splice donor variant)	Fucosidosis	GPathogenic
Select item 1544575	NM_000147.5(FUCA1):c.1251A>C (p.Ser417=)	FUCA1	Single nucleotide variant (synonymous variant)	Fucosidosis	GLikely benign
Select item 2113526	NM_000147.5(FUCA1):c.1249T>G (p.Ser417Ala)	FUCA1 (S417A)	Single nucleotide variant (missense variant +1 more)	Fucosidosis	GUncertain significance
Select item 2114815	NM_000147.5(FUCA1):c.1237C>T (p.Pro413Ser)	FUCA1 (P413S)	Single nucleotide variant (missense variant +1 more)	Fucosidosis +1 more	GUncertain significance
Select item 2835980	NM_000147.5(FUCA1):c.1236C>T (p.Ser412=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 692	NM_000147.5(FUCA1):c.1229T>G (p.Leu410Arg)	FUCA1 (L410R)	Single nucleotide variant (missense variant)	Fucosidosis	GLikely pathogenic
Select item 2058486	NM_000147.5(FUCA1):c.1226A>T (p.Asn409Ile)	FUCA1 (N409I)	Single nucleotide variant (missense variant +1 more)	Fucosidosis	GUncertain significance
Select item 975241	NM_000147.5(FUCA1):c.1216G>T (p.Gly406Ter)	FUCA1 (G406*)	Single nucleotide variant (nonsense)	Fucosidosis	GPathogenic
Select item 1985785	NM_000147.5(FUCA1):c.1214A>T (p.Asn405Ile)	FUCA1 (N405I)	Single nucleotide variant (missense variant +1 more)	Fucosidosis	GUncertain significance
Select item 2963686	NM_000147.5(FUCA1):c.1209A>G (p.Pro403=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2185928	NM_000147.5(FUCA1):c.1206G>A (p.Trp402Ter)	FUCA1 (W402*)	Single nucleotide variant (nonsense +1 more)	Fucosidosis	GPathogenic
Select item 2050133	NM_000147.5(FUCA1):c.1192A>G (p.Ile398Val)	FUCA1 (I398V)	Single nucleotide variant (missense variant +1 more)	Fucosidosis	GUncertain significance
Select item 1358075	NM_000147.5(FUCA1):c.1190C>T (p.Ala397Val)	FUCA1 (A397V)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 2099782	NM_000147.5(FUCA1):c.1183G>A (p.Val395Ile)	FUCA1 (V395I)	Single nucleotide variant (missense variant +1 more)	Fucosidosis	GUncertain significance
Select item 1918399	NM_000147.5(FUCA1):c.1180G>A (p.Ala394Thr)	FUCA1 (A394T)	Single nucleotide variant (missense variant +1 more)	Fucosidosis	GUncertain significance
Select item 1543987	NM_000147.5(FUCA1):c.1179G>A (p.Ser393=)	FUCA1	Single nucleotide variant (synonymous variant)	Fucosidosis	GLikely benign
Select item 1405327	NM_000147.5(FUCA1):c.1178C>T (p.Ser393Leu)	FUCA1 (S393L)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 1433049	NM_000147.5(FUCA1):c.1174G>A (p.Gly392Arg)	FUCA1 (G392R)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 2222033	NM_000147.5(FUCA1):c.1164T>G (p.Tyr388Ter)	FUCA1 (Y388*)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GPathogenic
Select item 2996731	NM_000147.5(FUCA1):c.1161-5C>T	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2821626	NM_000147.5(FUCA1):c.1161-21GT[3]	FUCA1	Microsatellite (intron variant)	Fucosidosis	GLikely benign
Select item 2754562	NM_000147.5(FUCA1):c.1161-17T>C	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2879196	NM_000147.5(FUCA1):c.1161-19G>A	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 1294438	NM_000147.5(FUCA1):c.1161-116dup	FUCA1	Duplication (intron variant)	not provided	GBenign
Select item 1220060	NM_000147.5(FUCA1):c.1161-219G>A	FUCA1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2731570	NM_000147.5(FUCA1):c.1160+20G>A	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2907327	NM_000147.5(FUCA1):c.1160+17G>C	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 1559581	NM_000147.5(FUCA1):c.1160+16T>C	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 2816272	NM_000147.5(FUCA1):c.1160+10_1160+14del	FUCA1	Microsatellite (intron variant)	Fucosidosis	GLikely benign
Select item 1640262	NM_000147.5(FUCA1):c.1160+9T>C	FUCA1	Single nucleotide variant (intron variant)	Fucosidosis	GLikely benign
Select item 686	NM_000147.5(FUCA1):c.1160G>A (p.Trp387Ter)	FUCA1 (W387*)	Single nucleotide variant (nonsense)	Fucosidosis	GPathogenic
Select item 2910786	NM_000147.5(FUCA1):c.1158A>G (p.Val386=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2897990	NM_000147.5(FUCA1):c.1152A>G (p.Thr384=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2737421	NM_000147.5(FUCA1):c.1149A>T (p.Thr383=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 296885	NM_000147.5(FUCA1):c.1148C>T (p.Thr383Ile)	FUCA1 (T383I)	Single nucleotide variant (missense variant)	Fucosidosis +2 more	GBenign/Likely benign
Select item 962530	NM_000147.5(FUCA1):c.1138G>C (p.Glu380Gln)	FUCA1 (E380Q)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 683	NM_000147.5(FUCA1):c.1138G>T (p.Glu380Ter)	FUCA1 (E380*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 1993374	NM_000147.5(FUCA1):c.1136G>C (p.Trp379Ser)	FUCA1 (W379S)	Single nucleotide variant (missense variant +1 more)	Fucosidosis	GUncertain significance
Select item 2796539	NM_000147.5(FUCA1):c.1134A>G (p.Gln378=)	FUCA1	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GLikely benign
Select item 2711635	NM_000147.5(FUCA1):c.1131_1132delinsTT (p.Gln378Ter)	FUCA1 (Q378*)	Indel (non-coding transcript variant +1 more)	Fucosidosis	GPathogenic
Select item 558913	NM_000147.5(FUCA1):c.1127G>A (p.Arg376Gln)	FUCA1 (R376Q)	Single nucleotide variant (missense variant)	Fucosidosis +1 more	GBenign
Select item 1418772	NM_000147.5(FUCA1):c.1126C>T (p.Arg376Trp)	FUCA1 (R376W)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 198046	NM_000147.5(FUCA1):c.1125G>A (p.Trp375Ter)	FUCA1 (W375*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 3064088	NM_000147.5(FUCA1):c.1123del (p.Trp375fs)	FUCA1 (W375fs)	Deletion (frameshift variant +1 more)	Fucosidosis	GPathogenic
Select item 2082511	NM_000147.5(FUCA1):c.1123T>C (p.Trp375Arg)	FUCA1 (W375R)	Single nucleotide variant (missense variant +1 more)	Fucosidosis	GUncertain significance
Select item 707341	NM_000147.5(FUCA1):c.1119A>G (p.Lys373=)	FUCA1	Single nucleotide variant (synonymous variant)	Fucosidosis +2 more	GConflicting classifications of pathogenicity
Select item 2820130	NM_000147.5(FUCA1):c.1116C>T (p.Ser372=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2145734	NM_000147.5(FUCA1):c.1102G>A (p.Ala368Thr)	FUCA1 (A368T)	Single nucleotide variant (missense variant +1 more)	Fucosidosis	GUncertain significance
Select item 3097432	NM_000147.5(FUCA1):c.1094A>G (p.Asn365Ser)	FUCA1 (N365S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 975242	NM_000147.5(FUCA1):c.1093A>G (p.Asn365Asp)	FUCA1 (N365D)	Single nucleotide variant (missense variant)	Intellectual disability	GLikely benign
Select item 2824882	NM_000147.5(FUCA1):c.1092C>T (p.Ile364=)	FUCA1	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GLikely benign
Select item 2137991	NM_000147.5(FUCA1):c.1089C>T (p.Ser363=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2185537	NM_000147.5(FUCA1):c.1082G>T (p.Trp361Leu)	FUCA1 (W361L)	Single nucleotide variant (missense variant +1 more)	Fucosidosis	GUncertain significance
Select item 218428	NM_000147.5(FUCA1):c.1082G>A (p.Trp361Ter)	FUCA1 (W361*)	Single nucleotide variant (nonsense)	FUCA1-related disorder +2 more	GPathogenic/Likely pathogenic
Select item 1656889	NM_000147.5(FUCA1):c.1077G>A (p.Gly359=)	FUCA1	Single nucleotide variant (synonymous variant)	Fucosidosis +1 more	GLikely benign
Select item 875406	NM_000147.5(FUCA1):c.1076G>A (p.Gly359Glu)	FUCA1 (G359E)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 875407	NM_000147.5(FUCA1):c.1075G>A (p.Gly359Arg)	FUCA1 (G359R)	Single nucleotide variant (missense variant)	Fucosidosis	GUncertain significance
Select item 2716142	NM_000147.5(FUCA1):c.1065T>C (p.Leu355=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2706835	NM_000147.5(FUCA1):c.1057G>T (p.Glu353Ter)	FUCA1 (E353*)	Single nucleotide variant (non-coding transcript variant +1 more)	Fucosidosis	GPathogenic
Select item 2914319	NM_000147.5(FUCA1):c.1054C>T (p.Gln352Ter)	FUCA1 (Q352*)	Single nucleotide variant (nonsense +1 more)	Fucosidosis	GPathogenic
Select item 1941094	NM_000147.5(FUCA1):c.1048A>G (p.Ile350Val)	FUCA1 (I350V)	Single nucleotide variant (missense variant +1 more)	Fucosidosis	GUncertain significance
Select item 2915985	NM_000147.5(FUCA1):c.1041T>C (p.Ile347=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign
Select item 2747588	NM_000147.5(FUCA1):c.1038G>C (p.Leu346=)	FUCA1	Single nucleotide variant (synonymous variant +1 more)	Fucosidosis	GLikely benign

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