"GeneDx"[submitter] AND "FA2H"[gene] - ClinVar

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Items: 70

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 59515	GRCh38/hg38 16q22.3-23.3(chr16:73049467-82576326)x1	LOC112486211, LOC112486212 +360 more	Copy number loss	See cases	GPathogenic
Select item 59996	GRCh38/hg38 16q22.3-23.1(chr16:73917167-75319927)x3	BCAR1, CFDP1 +75 more	Copy number gain	See cases	GUncertain significance
Select item 320484	NM_024306.5(FA2H):c.*283G>C	FA2H	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 320485	NM_024306.5(FA2H):c.*281C>A	FA2H	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 320487	NM_024306.5(FA2H):c.*243G>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35 +1 more	GBenign
Select item 320490	NM_024306.5(FA2H):c.*34G>A	FA2H	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign/Likely benign
Select item 320491	NM_024306.5(FA2H):c.1113G>C (p.Thr371=)	FA2H	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 1238784	NM_024306.5(FA2H):c.1040-178A>G	FA2H	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1246791	NM_024306.5(FA2H):c.1039+242G>A	FA2H	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222018	NM_024306.5(FA2H):c.1039+103G>T	FA2H	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 383661	NM_024306.5(FA2H):c.1039+16T>G	FA2H	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 129027	NM_024306.5(FA2H):c.1039+8T>C	FA2H	Single nucleotide variant (intron variant)	not provided +4 more	GBenign
Select item 807416	NM_024306.5(FA2H):c.968C>T (p.Pro323Leu)	FA2H (P323L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 129033	NM_024306.5(FA2H):c.933T>C (p.Tyr311=)	FA2H	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign
Select item 1307184	NM_024306.5(FA2H):c.932A>G (p.Tyr311Cys)	FA2H (Y311C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 447318	NM_024306.5(FA2H):c.925G>A (p.Val309Ile)	FA2H (V309I)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 129032	NM_024306.5(FA2H):c.888A>G (p.Val296=)	FA2H	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +4 more	GBenign
Select item 129031	NM_024306.5(FA2H):c.879C>T (p.Pro293=)	FA2H	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +4 more	GBenign
Select item 129030	NM_024306.5(FA2H):c.847G>A (p.Val283Ile)	FA2H (V283I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35 +3 more	GBenign/Likely benign
Select item 320495	NM_024306.5(FA2H):c.844G>A (p.Gly282Ser)	FA2H (G282S)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 1270773	NM_024306.5(FA2H):c.787-59T>C	FA2H	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1232044	NM_024306.5(FA2H):c.787-158G>A	FA2H	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1227942	NM_024306.5(FA2H):c.787-189A>G	FA2H	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1207794	NM_024306.5(FA2H):c.787-233G>A	FA2H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1196094	NM_024306.5(FA2H):c.786+281C>G	FA2H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1214706	NM_024306.5(FA2H):c.786+238G>A	FA2H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1207800	NM_024306.5(FA2H):c.786+181G>C	FA2H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1202959	NM_024306.5(FA2H):c.786+65C>G	FA2H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1226294	NM_024306.5(FA2H):c.786+45G>C	FA2H	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1043	NM_024306.5(FA2H):c.786+1G>A	FA2H	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 372861	NM_024306.5(FA2H):c.782A>G (p.His261Arg)	FA2H (H261R)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 514539	NM_024306.5(FA2H):c.771C>T (p.His257=)	FA2H	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +4 more	GBenign/Likely benign
Select item 1697130	NM_024306.5(FA2H):c.760T>G (p.Phe254Val)	FA2H (F254V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 30870	NM_024306.5(FA2H):c.703C>T (p.Arg235Cys)	FA2H (R235C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35 +2 more	GConflicting classifications of pathogenicity
Select item 241464	NM_024306.5(FA2H):c.691T>C (p.Tyr231His)	FA2H (Y231H)	Single nucleotide variant (missense variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 680134	NM_024306.5(FA2H):c.614-21G>A	FA2H	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1188212	NM_024306.5(FA2H):c.614-57G>A	FA2H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1194336	NM_024306.5(FA2H):c.614-64G>A	FA2H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 936701	NM_024306.5(FA2H):c.589C>T (p.Arg197Ter)	FA2H (R197*)	Single nucleotide variant (nonsense)	Spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 320496	NM_024306.5(FA2H):c.570C>A (p.Thr190=)	FA2H	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 3375693	NM_024306.5(FA2H):c.554G>C (p.Trp185Ser)	FA2H (W185S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 320498	NM_024306.5(FA2H):c.537G>A (p.Leu179=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GBenign/Likely benign
Select item 30873	NM_024306.5(FA2H):c.510_511del (p.Tyr170_Ser171delinsTer)	FA2H	Deletion (nonsense)	not provided +1 more	GPathogenic
Select item 1233434	NM_024306.5(FA2H):c.507-64del	FA2H	Deletion (intron variant)	not specified +1 more	GBenign
Select item 1293414	NM_024306.5(FA2H):c.507-92A>G	FA2H	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1296549	NM_024306.5(FA2H):c.506+275G>T	FA2H	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 30872	NM_024306.5(FA2H):c.460C>T (p.Arg154Cys)	FA2H (R154C)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 1207312	NM_024306.5(FA2H):c.364-280G>A	FA2H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1189805	NM_024306.5(FA2H):c.363+149C>T	FA2H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 803271	NM_024306.5(FA2H):c.340_363+8del	FA2H	Deletion (splice donor variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 241461	NM_024306.5(FA2H):c.338G>A (p.Arg113Gln)	FA2H (R113Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +4 more	GConflicting classifications of pathogenicity
Select item 381515	NM_024306.5(FA2H):c.337C>T (p.Arg113Trp)	FA2H (R113W)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 129029	NM_024306.5(FA2H):c.289C>G (p.Pro97Ala)	FA2H (P97A)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35 +4 more	GBenign/Likely benign
Select item 1189330	NM_024306.5(FA2H):c.271-285G>A	FA2H	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 885662	NM_024306.5(FA2H):c.266A>T (p.Gln89Leu)	FA2H, LOC130059393 (Q89L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 320501	NM_024306.5(FA2H):c.232G>A (p.Glu78Lys)	FA2H (E78K)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 129028	NM_024306.5(FA2H):c.229C>T (p.Leu77=)	FA2H	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +4 more	GBenign
Select item 30871	NM_024306.5(FA2H):c.159_176del (p.Arg53_Ile58del)	FA2H, LOC130059394	Deletion (inframe_deletion)	Hereditary spastic paraplegia 35 +2 more	GPathogenic
Select item 372860	NM_024306.5(FA2H):c.139G>A (p.Glu47Lys)	FA2H, LOC130059394 (E47K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35 +2 more	GConflicting classifications of pathogenicity
Select item 449574	NM_024306.5(FA2H):c.130C>T (p.Pro44Ser)	FA2H, LOC130059394 (P44S)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely pathogenic
Select item 1219530	NM_024306.5(FA2H):c.82C>T (p.Arg28Cys)	FA2H, LOC130059394 (R28C)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 817062	NM_024306.5(FA2H):c.70dup (p.Ala24fs)	FA2H, LOC130059394 (A24fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 514153	NM_024306.5(FA2H):c.66C>G (p.Ala22=)	FA2H, LOC130059394	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GLikely benign
Select item 369127	NM_024306.4(FA2H):c.-84G>C	FA2H, LOC130059394	Single nucleotide variant	not specified +2 more	GBenign
Select item 1228756	NC_000016.10:g.74774853G>A	FA2H, LOC130059394	Single nucleotide variant	not provided	GBenign
Select item 1219845	NC_000016.10:g.74774863C>G	FA2H, LOC130059394	Single nucleotide variant	not provided	GLikely benign
Select item 1268249	NC_000016.10:g.74774921C>T	FA2H	Single nucleotide variant	not provided	GBenign
Select item 1243395	NC_000016.10:g.74774996G>A	FA2H, LOC130059395	Single nucleotide variant	not provided	GBenign
Select item 3359284	NM_024306.5(FA2H):c.400G>C (p.Val134Leu)	FA2H (V134L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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Items: 70