"GeneDx"[submitter] AND "FAH"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58354	GRCh38/hg38 15q25.1(chr15:79552851-80526230)x3	ARNT2, ARNT2-DT +38 more	Copy number gain	See cases	GUncertain significance
Select item 1707388	NC_000015.10:g.80152701_80152766del	FAH, LOC130057734	Deletion	not provided	GLikely benign
Select item 1258417	NM_001374377.1(FAH):c.-89G>C	FAH, LOC130057734	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1210808	NM_001374377.1(FAH):c.-88G>T	LOC130057734, FAH	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GLikely benign
Select item 369102	NM_000137.4(FAH):c.-178G>A	FAH, LOC130057734	Single nucleotide variant (genic upstream transcript variant)	Hypertyrosinemia +1 more	GBenign/Likely benign
Select item 317196	NM_001374377.1(FAH):c.-30+45G>C	FAH, LOC130057734	Single nucleotide variant (intron variant +1 more)	not provided +1 more	GBenign
Select item 317199	NM_000137.4(FAH):c.-43G>T	FAH	Single nucleotide variant (5 prime UTR variant +1 more)	Tyrosinemia type I +1 more	GConflicting classifications of pathogenicity
Select item 317200	NM_000137.4(FAH):c.-34C>T	FAH	Single nucleotide variant (5 prime UTR variant +1 more)	Tyrosinemia type I +2 more	GBenign
Select item 513238	NM_000137.4(FAH):c.-7C>T	FAH	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 372766	NM_000137.4(FAH):c.1A>G (p.Met1Val)	FAH (M1V)	Single nucleotide variant (missense variant +1 more)	Tyrosinemia type I +2 more	GPathogenic
Select item 317203	NM_000137.4(FAH):c.81+12G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I +1 more	GConflicting classifications of pathogenicity
Select item 255283	NM_000137.4(FAH):c.81+38dup	FAH	Duplication (intron variant)	not specified +1 more	GBenign
Select item 1262029	NM_000137.4(FAH):c.81+39_81+57del	FAH	Deletion (intron variant)	not provided	GBenign
Select item 1172733	NM_000137.4(FAH):c.82-74T>C	FAH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 380447	NM_000137.4(FAH):c.82-19G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I +2 more	GBenign
Select item 514402	NM_000137.4(FAH):c.82-14C>T	FAH	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 92446	NM_000137.4(FAH):c.82-13G>A	FAH	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 430378	NM_000137.4(FAH):c.107T>C (p.Ile36Thr)	FAH (I36T)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 317206	NM_000137.4(FAH):c.139A>G (p.Lys47Glu)	FAH (K47E)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 680356	NM_000137.4(FAH):c.150T>C (p.Phe50=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I +1 more	GConflicting classifications of pathogenicity
Select item 380509	NM_000137.4(FAH):c.165C>T (p.Leu55=)	FAH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1326696	NM_000137.4(FAH):c.192+109G>A	FAH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1197515	NM_000137.4(FAH):c.192+212G>A	FAH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1278321	NM_000137.4(FAH):c.193-331_193-330del	FAH	Microsatellite (intron variant)	not provided	GBenign
Select item 1247365	NM_000137.4(FAH):c.193-85C>T	FAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255279	NM_000137.4(FAH):c.193-23T>C	FAH	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 196216	NM_000137.4(FAH):c.243G>A (p.Ala81=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I +1 more	GConflicting classifications of pathogenicity
Select item 92444	NM_000137.4(FAH):c.267G>C (p.Leu89=)	FAH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 512142	NM_000137.4(FAH):c.314+18A>G	FAH	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 1270152	NM_000137.4(FAH):c.314+224C>G	FAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1277870	NM_000137.4(FAH):c.315-181G>A	FAH, LOC112272621	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 510535	NM_000137.4(FAH):c.315-18C>G	FAH, LOC112272621	Single nucleotide variant (intron variant)	Tyrosinemia type I +1 more	GLikely benign
Select item 382389	NM_000137.4(FAH):c.315-14G>A	FAH, LOC112272621	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 1250978	NM_000137.4(FAH):c.364+142G>T	FAH, LOC112272621	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189864	NM_000137.4(FAH):c.365-109A>G	FAH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 517954	NM_000137.4(FAH):c.411C>T (p.Val137=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I +1 more	GLikely benign
Select item 507801	NM_000137.4(FAH):c.455+9T>C	FAH	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 512032	NM_000137.4(FAH):c.455+19G>C	FAH	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 1172735	NM_000137.4(FAH):c.455+67T>C	FAH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1245116	NM_000137.4(FAH):c.456-267G>C	FAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 382956	NM_000137.4(FAH):c.456-20C>T	FAH	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 92445	NM_000137.4(FAH):c.456G>A (p.Trp152Ter)	FAH (W152*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 887284	NM_000137.4(FAH):c.462C>A (p.His154Gln)	FAH (H154Q)	Single nucleotide variant (missense variant)	Tyrosinemia type I +1 more	GUncertain significance
Select item 381848	NM_000137.4(FAH):c.483C>T (p.Gly161=)	FAH	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign/Likely benign
Select item 188751	NM_000137.4(FAH):c.520C>T (p.Arg174Ter)	FAH (R174*)	Single nucleotide variant (nonsense)	Tyrosinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 646736	NM_000137.4(FAH):c.548_553+20del	FAH	Deletion (splice donor variant)	Tyrosinemia type I +1 more	GPathogenic
Select item 385421	NM_000137.4(FAH):c.553+10C>T	FAH	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 255282	NM_000137.4(FAH):c.553+33A>G	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I +2 more	GBenign
Select item 382952	NM_000137.4(FAH):c.554-20T>G	FAH	Single nucleotide variant (intron variant)	not specified +1 more	GBenign/Likely benign
Select item 11874	NM_000137.4(FAH):c.554-1G>T	FAH	Single nucleotide variant (splice acceptor variant)	not provided +1 more	GPathogenic
Select item 1181937	NM_000137.4(FAH):c.606+271G>A	FAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1237753	NM_000137.4(FAH):c.607-176T>C	FAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 386297	NM_000137.4(FAH):c.706+9T>C	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I +1 more	GLikely benign
Select item 1221598	NM_000137.4(FAH):c.706+202_706+203insAT	FAH	Insertion (intron variant)	not provided	GBenign
Select item 1210748	NM_000137.4(FAH):c.707-122G>A	FAH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1245630	NM_000137.4(FAH):c.707-107del	FAH	Deletion (intron variant)	not provided	GBenign
Select item 1321690	NM_000137.4(FAH):c.707-63G>A	FAH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1233575	NM_000137.4(FAH):c.707-56G>A	FAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 21058	NM_000137.4(FAH):c.782C>T (p.Pro261Leu)	FAH (P261L)	Single nucleotide variant (missense variant)	Tyrosinemia type I +1 more	GPathogenic/Likely pathogenic
Select item 1321816	NM_000137.4(FAH):c.837+97G>A	FAH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202825	NM_000137.4(FAH):c.837+120C>T	FAH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219479	NM_000137.4(FAH):c.837+277G>A	FAH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1276195	NM_000137.4(FAH):c.838-295C>T	FAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1177544	NM_000137.4(FAH):c.838-196A>G	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I +1 more	GBenign
Select item 1222751	NM_000137.4(FAH):c.838-173del	FAH	Deletion (intron variant)	not provided	GBenign
Select item 1209046	NM_000137.4(FAH):c.838-50G>A	FAH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 317215	NM_000137.4(FAH):c.855G>A (p.Pro285=)	FAH	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 1704059	NM_000137.4(FAH):c.856T>A (p.Tyr286Asn)	FAH (Y286N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 385165	NM_000137.4(FAH):c.870C>T (p.Asp290=)	FAH	Single nucleotide variant (synonymous variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 1280640	NM_000137.4(FAH):c.913+156G>C	FAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1262113	NM_000137.4(FAH):c.913+193G>T	FAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1249299	NM_000137.4(FAH):c.914-316T>C	FAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268331	NM_000137.4(FAH):c.914-297A>G	FAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 281004	NM_000137.4(FAH):c.921A>G (p.Gly307=)	FAH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign
Select item 1177545	NM_000137.4(FAH):c.960+115G>A	FAH	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1221273	NM_000137.4(FAH):c.961-223T>C	FAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 255284	NM_000137.4(FAH):c.961-35C>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I +2 more	GBenign
Select item 382107	NM_000137.4(FAH):c.961-17G>A	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I +1 more	GBenign/Likely benign
Select item 508836	NM_000137.4(FAH):c.961-16C>T	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I +1 more	GLikely benign
Select item 388746	NM_000137.4(FAH):c.961-15G>A	FAH	Single nucleotide variant (intron variant)	not provided +2 more	GLikely benign
Select item 383908	NM_000137.4(FAH):c.975G>C (p.Thr325=)	FAH	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 11868	NM_000137.4(FAH):c.1021C>T (p.Arg341Trp)	FAH (R341W)	Single nucleotide variant (missense variant)	Tyrosinemia type I +1 more	GBenign/Likely benign; other
Select item 387640	NM_000137.4(FAH):c.1026G>A (p.Pro342=)	FAH	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 167054	NM_000137.4(FAH):c.1056C>T (p.Ser352=)	FAH	Single nucleotide variant (synonymous variant)	Tyrosinemia type I +2 more	GBenign
Select item 391732	NM_000137.4(FAH):c.1062G>A (p.Pro354=)	FAH	Single nucleotide variant (synonymous variant)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 11870	NM_000137.4(FAH):c.1062+5G>A	FAH	Single nucleotide variant (intron variant)	FAH-related disorder +2 more	GPathogenic
Select item 1213185	NM_000137.4(FAH):c.1063-274G>C	FAH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1676854	NM_000137.4(FAH):c.1063-127C>A	FAH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 11871	NM_000137.4(FAH):c.1069G>T (p.Glu357Ter)	FAH (E357*)	Single nucleotide variant (nonsense)	Tyrosinemia type I +2 more	GPathogenic
Select item 682378	NM_000137.4(FAH):c.1077C>T (p.Phe359=)	FAH	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 11867	NM_000137.4(FAH):c.1090G>T (p.Glu364Ter)	FAH (E364*)	Single nucleotide variant (nonsense)	not provided +1 more	GPathogenic
Select item 498024	NM_000137.4(FAH):c.1098G>A (p.Ser366=)	FAH	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 255278	NM_000137.4(FAH):c.1180+4A>G	FAH	Single nucleotide variant (intron variant)	Tyrosinemia type I +2 more	GBenign
Select item 1203389	NM_000137.4(FAH):c.1180+83A>G	FAH	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1292158	NM_000137.4(FAH):c.1180+113T>C	FAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1251617	NM_000137.4(FAH):c.1180+161A>G	FAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1286725	NM_000137.4(FAH):c.1181-235C>T	FAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1183254	NM_000137.4(FAH):c.1181-210G>A	FAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1239886	NM_000137.4(FAH):c.1181-204G>A	FAH	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1293246	NM_000137.4(FAH):c.1181-98C>T	FAH	Single nucleotide variant (intron variant)	not provided	GBenign

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