"GeneDx"[submitter] AND "FUT8"[gene] - ClinVar

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Items: 35

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 145028	GRCh38/hg38 14q23.3(chr14:65274673-65617127)x1	FUT8, FUT8-AS1 +25 more	Copy number loss	See cases	GUncertain significance
Select item 1706869	NM_001371533.1(FUT8):c.-217G>A	FUT8	Single nucleotide variant (5 prime UTR variant +2 more)	not provided	GLikely benign
Select item 402887	NM_001371533.1(FUT8):c.165A>G (p.Gln55=)	FUT8	Single nucleotide variant (synonymous variant +2 more)	not specified +2 more	GBenign
Select item 1238047	NM_001371533.1(FUT8):c.203+21T>C	FUT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1289341	NM_001371533.1(FUT8):c.204-203C>T	FUT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1287876	NM_001371533.1(FUT8):c.204-201A>G	FUT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1236941	NM_001371533.1(FUT8):c.204-123A>G	FUT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273382	NM_001371533.1(FUT8):c.301A>C (p.Lys101Gln)	FUT8 (K101Q)	Single nucleotide variant (missense variant +2 more)	not provided	GBenign
Select item 1278846	NM_001371533.1(FUT8):c.482+79A>G	FUT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1234883	NM_001371533.1(FUT8):c.482+112A>G	FUT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232363	NM_001371533.1(FUT8):c.482+123G>A	FUT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1320643	NM_001371533.1(FUT8):c.483-206C>T	FUT8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1320645	NM_001371533.1(FUT8):c.483-17G>A	FUT8	Single nucleotide variant (intron variant)	not provided	GBenign/Likely benign
Select item 402888	NM_001371533.1(FUT8):c.570G>A (p.Leu190=)	FUT8	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 1249554	NM_001371533.1(FUT8):c.597+209A>G	FUT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1295371	NM_001371533.1(FUT8):c.597+224AC[16]	FUT8	Microsatellite (intron variant)	not provided	GBenign
Select item 1259504	NM_001371533.1(FUT8):c.597+224AC[17]	FUT8	Microsatellite (intron variant)	not provided	GBenign
Select item 1227118	NM_001371533.1(FUT8):c.597+224AC[15]	FUT8	Microsatellite (intron variant)	not provided	GBenign
Select item 1290123	NM_001371533.1(FUT8):c.597+224AC[13]	FUT8	Microsatellite (intron variant)	not provided	GBenign
Select item 1266741	NM_001371533.1(FUT8):c.597+224AC[12]	FUT8	Microsatellite (intron variant)	not provided	GBenign
Select item 1218211	NM_001371533.1(FUT8):c.597+252_597+253insCAAA	FUT8	Insertion (intron variant)	not provided	GLikely benign
Select item 545465	NM_001371533.1(FUT8):c.715C>T (p.Arg239Ter)	FUT8 (R239* +2 more)	Single nucleotide variant (nonsense +1 more)	not provided +1 more	GPathogenic
Select item 2662006	NM_001371533.1(FUT8):c.765G>C (p.Trp255Cys)	FUT8 (W255C +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1285286	NM_001371533.1(FUT8):c.800C>A (p.Thr267Lys)	FUT8 (T104K +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation with defective fucosylation 1 +1 more	GBenign
Select item 1251015	NM_001371533.1(FUT8):c.836-284C>T	FUT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1273561	NM_001371533.1(FUT8):c.836-127del	FUT8	Deletion (intron variant)	not provided	GBenign
Select item 1710677	NM_001371533.1(FUT8):c.842T>C (p.Val281Ala)	FUT8 (V118A +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1294137	NM_001371533.1(FUT8):c.1082+143T>A	FUT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1283660	NM_001371533.1(FUT8):c.1259+165T>C	FUT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1294139	NM_001371533.1(FUT8):c.1260-287G>A	FUT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1288612	NM_001371533.1(FUT8):c.1260-213A>G	FUT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296459	NM_001371533.1(FUT8):c.1260-117A>C	FUT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1280156	NM_001371533.1(FUT8):c.1410+78A>G	FUT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1502738	NM_001371533.1(FUT8):c.1552G>A (p.Ala518Thr)	FUT8 (A552T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1241478	NM_001371533.1(FUT8):c.*62C>G	FUT8	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GBenign

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Items: 35