4019[HGNC] - 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 57781	GRCh38/hg38 14q22.3-23.3(chr14:57041036-67208231)x1	ACTR10, AKAP5 +344 more	Copy number loss	See cases	GPathogenic
Select item 57228	GRCh38/hg38 14q23.1-23.3(chr14:59917051-66750803)x1	AKAP5, C14orf39 +264 more	Copy number loss	See cases	GPathogenic
Select item 149197	GRCh38/hg38 14q23.2-23.3(chr14:62252700-65753416)x1	AKAP5, CHURC1 +130 more	Copy number loss	See cases	GPathogenic
Select item 147881	GRCh38/hg38 14q23.3(chr14:64952923-66295289)x3	LOC130055860, LOC130055861 +57 more	Copy number gain	See cases	GUncertain significance
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 2997462	NM_001371533.1(FUT8):c.6G>T (p.Arg2=)	FUT8	Single nucleotide variant (intron variant +2 more)	not provided	GLikely benign
Select item 982408	NM_001371533.1(FUT8):c.12G>A (p.Trp4Ter)	FUT8 (W4*)	Single nucleotide variant (nonsense +2 more)	Congenital disorder of glycosylation with defective fucosylation 1	GLikely pathogenic
Select item 2705477	NM_001371533.1(FUT8):c.21C>T (p.Ser7=)	FUT8	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2372675	NM_001371533.1(FUT8):c.26G>A (p.Arg9His)	FUT8 (R9H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1690906	NM_001371533.1(FUT8):c.55G>C (p.Gly19Arg)	FUT8 (G19R)	Single nucleotide variant (missense variant +2 more)	See cases	GUncertain significance
Select item 402887	NM_001371533.1(FUT8):c.165A>G (p.Gln55=)	FUT8	Single nucleotide variant (synonymous variant +2 more)	FUT8-related condition +3 more	GBenign
Select item 2609806	NM_001371533.1(FUT8):c.178T>A (p.Leu60Met)	FUT8 (L60M)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2298405	NM_001371533.1(FUT8):c.197C>T (p.Ser66Phe)	FUT8 (S66F)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2227542	NM_001371533.1(FUT8):c.202C>T (p.Arg68Trp)	FUT8 (R68W)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
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 1988170	NM_001371533.1(FUT8):c.204-18A>G	FUT8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3057892	NM_001371533.1(FUT8):c.204-4A>G	FUT8	Single nucleotide variant (intron variant)	FUT8-related condition	GLikely benign
Select item 916157	NM_001371533.1(FUT8):c.222T>G (p.Ile74Met)	FUT8 (I74M)	Single nucleotide variant (missense variant +2 more)	Congenital disorder of glycosylation with defective fucosylation 1 +2 more	GUncertain significance
Select item 2552346	NM_001371533.1(FUT8):c.251G>A (p.Arg84His)	FUT8 (R84H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2185271	NM_001371533.1(FUT8):c.252C>T (p.Arg84=)	FUT8	Single nucleotide variant (non-coding transcript variant +2 more)	not provided	GLikely benign
Select item 1964491	NM_001371533.1(FUT8):c.254T>A (p.Val85Asp)	FUT8 (V85D)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2644331	NM_001371533.1(FUT8):c.264G>A (p.Glu88=)	FUT8	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 2366727	NM_001371533.1(FUT8):c.267G>C (p.Gln89His)	FUT8 (Q89H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 1600118	NM_001371533.1(FUT8):c.287A>G (p.Gln96Arg)	FUT8 (Q96R)	Single nucleotide variant (missense variant +2 more)	FUT8-related condition +1 more	GBenign/Likely benign
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 2302492	NM_001371533.1(FUT8):c.370A>G (p.Lys124Glu)	FUT8 (K124E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3033957	NM_001371533.1(FUT8):c.417C>T (p.Asn139=)	FUT8	Single nucleotide variant (synonymous variant +2 more)	FUT8-related condition	GLikely benign
Select item 3035460	NM_001371533.1(FUT8):c.457C>G (p.Leu153Val)	FUT8 (L153V)	Single nucleotide variant (missense variant +2 more)	FUT8-related condition	GBenign
Select item 2898499	NM_001371533.1(FUT8):c.468A>G (p.Leu156=)	FUT8	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
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 1908066	NM_001371533.1(FUT8):c.483-17G>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 1416575	NM_001371533.1(FUT8):c.487A>G (p.Ile163Val)	FUT8 (I197V +1 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2246584	NM_001371533.1(FUT8):c.490A>G (p.Met164Val)	FUT8 (M198V +2 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 2338280	NM_001371533.1(FUT8):c.506A>G (p.Tyr169Cys)	FUT8 (Y203C +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1435164	NM_001371533.1(FUT8):c.559C>A (p.Leu187Met)	FUT8 (L187M +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 402888	NM_001371533.1(FUT8):c.570G>A (p.Leu190=)	FUT8	Single nucleotide variant (synonymous variant +1 more)	FUT8-related condition +2 more	GBenign
Select item 2250395	NM_001371533.1(FUT8):c.582A>T (p.Arg194Ser)	FUT8 (R194S +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1662089	NM_001371533.1(FUT8):c.597+12G>A	FUT8	Single nucleotide variant (intron variant)	not provided	GLikely benign
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 1648137	NM_001371533.1(FUT8):c.598-11C>A	FUT8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3059592	NM_001371533.1(FUT8):c.633G>A (p.Val211=)	FUT8	Single nucleotide variant (synonymous variant +1 more)	FUT8-related condition	GLikely benign
Select item 2229703	NM_001371533.1(FUT8):c.634T>C (p.Cys212Arg)	FUT8 (C212R +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3051919	NM_001371533.1(FUT8):c.642C>T (p.Ile214=)	FUT8	Single nucleotide variant (synonymous variant +1 more)	FUT8-related condition	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 3054999	NM_001371533.1(FUT8):c.720A>C (p.Thr240=)	FUT8	Single nucleotide variant (synonymous variant +1 more)	FUT8-related condition	GLikely benign
Select item 2802773	NM_001371533.1(FUT8):c.749A>T (p.Tyr250Phe)	FUT8 (Y284F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
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 1956901	NM_001371533.1(FUT8):c.774A>G (p.Val258=)	FUT8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2631207	NM_001371533.1(FUT8):c.786_789del (p.Ser263fs)	FUT8 (S100fs +2 more)	Deletion (frameshift variant +1 more)	FUT8-related condition	GLikely pathogenic
Select item 1690905	NM_001371533.1(FUT8):c.796T>C (p.Cys266Arg)	FUT8 (C103R +2 more)	Single nucleotide variant (missense variant +1 more)	See cases	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)	not provided +2 more	GBenign
Select item 3051670	NM_001371533.1(FUT8):c.822T>G (p.Thr274=)	FUT8	Single nucleotide variant (synonymous variant +1 more)	FUT8-related condition	GLikely benign
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 2894265	NM_001371533.1(FUT8):c.868G>A (p.Glu290Lys)	FUT8 (E324K +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2309719	NM_001371533.1(FUT8):c.875C>T (p.Pro292Leu)	FUT8 (P326L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1545010	NM_001371533.1(FUT8):c.936C>G (p.Leu312=)	FUT8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1542366	NM_001371533.1(FUT8):c.936C>T (p.Leu312=)	FUT8	Single nucleotide variant (synonymous variant)	FUT8-related condition +1 more	GBenign/Likely benign
Select item 545468	NM_001371533.1(FUT8):c.943C>T (p.Arg315Ter)	FUT8 (R315* +2 more)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation with defective fucosylation 1	GPathogenic
Select item 1687283	NM_001371533.1(FUT8):c.952C>T (p.Arg318Ter)	FUT8 (R155* +2 more)	Single nucleotide variant (nonsense)	Congenital disorder of glycosylation with defective fucosylation 1	GLikely pathogenic
Select item 3057339	NM_001371533.1(FUT8):c.957G>T (p.Val319=)	FUT8	Single nucleotide variant (synonymous variant)	FUT8-related condition	GLikely benign
Select item 545466	NM_001371533.1(FUT8):c.1009C>G (p.Arg337Gly)	FUT8 (R337G +2 more)	Single nucleotide variant (missense variant)	Congenital disorder of glycosylation with defective fucosylation 1	GPathogenic
Select item 3055050	NM_001371533.1(FUT8):c.1038A>C (p.Ile346=)	FUT8	Single nucleotide variant (synonymous variant)	FUT8-related condition	GLikely benign
Select item 1941557	NM_001371533.1(FUT8):c.1070A>G (p.His357Arg)	FUT8 (H194R +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2852546	NM_001371533.1(FUT8):c.1072C>G (p.Pro358Ala)	FUT8 (P358A +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 1468574	NM_001371533.1(FUT8):c.1083A>G (p.Gly361=)	FUT8	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2530673	NM_001371533.1(FUT8):c.1133C>T (p.Pro378Leu)	FUT8 (P215L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2039132	NM_001371533.1(FUT8):c.1209A>G (p.Arg403=)	FUT8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 545467	NM_001371533.1(FUT8):c.1259+5G>T	FUT8	Single nucleotide variant (intron variant)	Congenital disorder of glycosylation with defective fucosylation 1	GPathogenic
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 1919288	NM_001371533.1(FUT8):c.1360A>G (p.Ile454Val)	FUT8 (I291V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1580704	NM_001371533.1(FUT8):c.1371C>T (p.Leu457=)	FUT8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 1687228	NM_001371533.1(FUT8):c.1406C>T (p.Ser469Phe)	FUT8 (S306F +2 more)	Single nucleotide variant (missense variant +1 more)	Congenital disorder of glycosylation with defective fucosylation 1	GUncertain significance
Select item 1280156	NM_001371533.1(FUT8):c.1410+78A>G	FUT8	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1977628	NM_001371533.1(FUT8):c.1411-16T>A	FUT8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1423159	NM_001371533.1(FUT8):c.1411-10C>A	FUT8	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2701159	NM_001371533.1(FUT8):c.1446A>G (p.Leu482=)	FUT8	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 3053899	NM_001371533.1(FUT8):c.1506G>A (p.Gln502=)	FUT8	Single nucleotide variant (synonymous variant +1 more)	FUT8-related condition	GLikely benign
Select item 1973315	NM_001371533.1(FUT8):c.1531T>C (p.Tyr511His)	FUT8 (Y348H +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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