"GeneDx"[submitter] AND "FYB1"[gene] - ClinVar

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Search results

Items: 46

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58092	GRCh38/hg38 5p13.2-12(chr5:35700480-45260029)x3	LOC126807367, LOC126807368 +254 more	Copy number gain	See cases	GPathogenic
Select item 58093	GRCh38/hg38 5p13.2-q11.1(chr5:36374107-51103841)x3	ANXA2R, ANXA2R-AS1 +245 more	Copy number gain	See cases	GPathogenic
Select item 1182755	NM_001465.6(FYB1):c.*192A>T	FYB1	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 1232537	NM_001465.6(FYB1):c.2468-316T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1230439	NM_001465.6(FYB1):c.2467+24T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267008	NM_001465.6(FYB1):c.2467+11T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1256832	NM_001465.6(FYB1):c.2435+44T>A	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1278517	NM_001465.6(FYB1):c.2239-84A>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239268	NM_001465.6(FYB1):c.2239-106T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1255116	NM_001465.6(FYB1):c.2238+76A>G	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280849	NM_001465.6(FYB1):c.2152G>T (p.Val718Phe)	FYB1 (V672F +3 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1180183	NM_001465.6(FYB1):c.2046-128G>A	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259044	NM_001465.6(FYB1):c.2046-213T>A	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258637	NM_001465.6(FYB1):c.2045+301C>G	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267660	NM_001465.6(FYB1):c.1908-204del	FYB1	Deletion (intron variant)	not provided	GBenign
Select item 1291513	NM_001465.6(FYB1):c.1908-320C>A	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280383	NM_001465.6(FYB1):c.1907+268_1907+269dup	FYB1	Duplication (intron variant)	not provided	GBenign
Select item 1244446	NM_001465.6(FYB1):c.1907+290del	FYB1	Deletion (intron variant)	not provided	GBenign
Select item 1234107	NM_001465.6(FYB1):c.1907+140G>A	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1254818	NM_001465.6(FYB1):c.1841-51C>G	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1240620	NM_001465.6(FYB1):c.1817+325A>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294076	NM_001465.6(FYB1):c.1817+291T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236804	NM_001465.6(FYB1):c.1817+141A>G	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287979	NM_001465.6(FYB1):c.1817+15G>A	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288069	NM_001465.6(FYB1):c.1710C>T (p.Asp570=)	FYB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1182503	NM_001465.6(FYB1):c.1676-151T>G	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232835	NM_001465.6(FYB1):c.1675+222G>A	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289342	NM_001465.6(FYB1):c.1515+322T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288132	NM_001465.6(FYB1):c.1395-144C>T	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1252691	NM_001465.6(FYB1):c.1394+225A>G	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1263650	NM_001465.6(FYB1):c.1359+200A>T	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1243862	NM_001465.6(FYB1):c.1359+159T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1181060	NM_001465.6(FYB1):c.1340-311T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1272374	NM_001465.6(FYB1):c.1339+109T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1221624	NM_001465.6(FYB1):c.1296C>T (p.Ser432=)	FYB1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1251161	NM_001465.6(FYB1):c.1293-278A>T	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280050	NM_001465.6(FYB1):c.1292+298_1292+299insACACCAACTCCT	FYB1	Insertion (intron variant)	not provided	GBenign
Select item 1228679	NM_001465.6(FYB1):c.1292+299C>A	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234245	NM_001465.6(FYB1):c.1292+21C>T	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294073	NM_001465.6(FYB1):c.1136-175C>T	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294072	NM_001465.6(FYB1):c.1135+29T>C	FYB1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296781	NM_001465.6(FYB1):c.374C>A (p.Ser125Tyr)	FYB1 (S125Y +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3097602	NM_001465.6(FYB1):c.256A>G (p.Thr86Ala)	FYB1 (T86A +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 1258151	NC_000005.10:g.39270928GT[12]	FYB1	Microsatellite (genic upstream transcript variant)	not provided	GBenign
Select item 1250729	NC_000005.10:g.39270928GT[13]	FYB1	Microsatellite (genic upstream transcript variant)	not provided	GBenign
Select item 253597	GRCh37/hg19 5p15.2-12(chr5:13461664-46098927)x3	RXFP3, GDNF +89 more	Copy number gain	See cases	GPathogenic

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Items: 46