"Ambry Genetics"[submitter] AND "FA2H"[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1507430	NM_024306.5(FA2H):c.1093G>C (p.Glu365Gln)	FA2H (E365Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 3091498	NM_024306.5(FA2H):c.1033A>C (p.Lys345Gln)	FA2H (K345Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 320493	NM_024306.5(FA2H):c.1032G>C (p.Gln344His)	FA2H (Q344H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35 +1 more	GUncertain significance
Select item 1693663	NM_024306.5(FA2H):c.1009G>A (p.Val337Ile)	FA2H (V337I)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 3091501	NM_024306.5(FA2H):c.880G>A (p.Glu294Lys)	FA2H (E294K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2530488	NM_024306.5(FA2H):c.824T>A (p.Val275Glu)	FA2H (V275E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2160667	NM_024306.5(FA2H):c.820C>G (p.Pro274Ala)	FA2H (P274A)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1509337	NM_024306.5(FA2H):c.763G>A (p.Val255Ile)	FA2H (V255I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1117406	NM_024306.5(FA2H):c.733G>A (p.Asp245Asn)	FA2H (D245N)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GLikely benign
Select item 3091500	NM_024306.5(FA2H):c.635A>C (p.Lys212Thr)	FA2H (K212T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2335073	NM_024306.5(FA2H):c.622G>T (p.Val208Leu)	FA2H (V208L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2229081	NM_024306.5(FA2H):c.586G>A (p.Val196Ile)	FA2H (V196I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 208728	NM_024306.5(FA2H):c.565C>T (p.Arg189Ter)	FA2H (R189*)	Single nucleotide variant (nonsense)	Inborn genetic diseases +2 more	GPathogenic
Select item 860983	NM_024306.5(FA2H):c.529G>A (p.Val177Met)	FA2H (V177M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 406877	NM_024306.5(FA2H):c.443C>T (p.Pro148Leu)	FA2H (P148L)	Single nucleotide variant (missense variant)	Inborn genetic diseases +3 more	GPathogenic/Likely pathogenic
Select item 2327215	NM_024306.5(FA2H):c.376T>G (p.Trp126Gly)	FA2H (W126G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2286743	NM_024306.5(FA2H):c.363+5C>A	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GUncertain significance
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 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 1028804	NM_024306.5(FA2H):c.202A>G (p.Arg68Gly)	LOC130059394, FA2H (R68G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35 +2 more	GConflicting classifications of pathogenicity
Select item 2269473	NM_024306.5(FA2H):c.178G>A (p.Ala60Thr)	FA2H, LOC130059394 (A60T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 582427	NM_024306.5(FA2H):c.173T>C (p.Ile58Thr)	FA2H, LOC130059394 (I58T)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 2292915	NM_024306.5(FA2H):c.134G>C (p.Gly45Ala)	FA2H, LOC130059394 (G45A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2612874	NM_024306.5(FA2H):c.126C>G (p.His42Gln)	FA2H, LOC130059394 (H42Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 964494	NM_024306.5(FA2H):c.106C>G (p.Leu36Val)	FA2H, LOC130059394 (L36V)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
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

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Items: 26