ClinVar for MedGen (Select 501249) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065108	NM_024306.5(FA2H):c.688G>A (p.Glu230Lys)	FA2H (E230K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 2689038	NM_024306.5(FA2H):c.817C>T (p.Pro273Ser)	FA2H (P273S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 2671835	NM_024306.5(FA2H):c.363+2T>C	FA2H	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 2637704	NM_024306.5(FA2H):c.911dup (p.Leu305fs)	FA2H (L305fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 35	GPathogenic
Select item 2627591	NM_024306.5(FA2H):c.659T>A (p.Met220Lys)	FA2H (M220K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 2627474	NM_024306.5(FA2H):c.201C>G (p.His67Gln)	FA2H, LOC130059394 (H67Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 2585059	NM_024306.5(FA2H):c.716A>C (p.His239Pro)	FA2H (H239P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 2584376	NM_024306.5(FA2H):c.910G>T (p.Gly304Cys)	FA2H (G304C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 2580908	NM_024306.5(FA2H):c.271-106C>T	FA2H	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 2505161	NC_000016.10:g.74773969_74776493del	FA2H, LOC130059393 +3 more	Deletion	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 2500182	NM_024306.5(FA2H):c.785A>C (p.Lys262Thr)	FA2H (K262T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 1878616	NM_024306.5(FA2H):c.844G>C (p.Gly282Arg)	FA2H (G282R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 1803968	NM_024306.5(FA2H):c.786G>A (p.Lys262=)	FA2H	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 35	GPathogenic
Select item 1709322	NM_024306.5(FA2H):c.75C>G (p.Cys25Trp)	FA2H, LOC130059394 (C25W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 1705931	NM_024306.5(FA2H):c.674T>C (p.Leu225Pro)	FA2H (L225P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GPathogenic
Select item 1685805	NM_024306.5(FA2H):c.506+1G>C	FA2H	Single nucleotide variant (splice donor variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 1684571	NM_024306.5(FA2H):c.115_121del (p.Phe39fs)	FA2H, LOC130059394 (F39fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 1684570	NM_024306.5(FA2H):c.821C>A (p.Pro274His)	FA2H (P274H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 1373656	NM_024306.5(FA2H):c.1A>G (p.Met1Val)	FA2H, LOC130059394 (M1V)	Single nucleotide variant (missense variant +1 more)	Spastic paraplegia +1 more	GPathogenic
Select item 1210342	NM_024306.5(FA2H):c.131del (p.Pro44fs)	FA2H, LOC130059394 (P44fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 35	GPathogenic
Select item 1184460	NM_024306.5(FA2H):c.782dup (p.His261fs)	FA2H (H261fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 1184459	NM_024306.5(FA2H):c.798C>G (p.Asp266Glu)	FA2H (D266E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 1041793	NM_024306.5(FA2H):c.941_945del (p.Thr314fs)	FA2H (T314fs)	Deletion (frameshift variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 1028804	NM_024306.5(FA2H):c.202A>G (p.Arg68Gly)	FA2H, LOC130059394 (R68G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35 +1 more	GConflicting classifications of pathogenicity
Select item 989138	NM_024306.5(FA2H):c.822del (p.Val275fs)	FA2H (V275fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 35	GPathogenic/Likely pathogenic
Select item 989137	NM_024306.5(FA2H):c.190G>T (p.Gly64Trp)	FA2H, LOC130059394 (G64W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GPathogenic
Select item 961888	NM_024306.5(FA2H):c.965C>T (p.Ser322Leu)	FA2H (S322L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35 +3 more	GConflicting classifications of pathogenicity
Select item 948467	NM_024306.5(FA2H):c.806G>A (p.Arg269His)	FA2H (R269H)	Single nucleotide variant (missense variant)	Neurodegeneration with brain iron accumulation +3 more	GPathogenic/Likely pathogenic
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 930104	NM_024306.5(FA2H):c.620C>T (p.Thr207Met)	FA2H (T207M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GPathogenic/Likely pathogenic
Select item 887872	NM_024306.5(FA2H):c.699C>T (p.Ile233=)	FA2H	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 887871	NM_024306.5(FA2H):c.786+6C>T	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 887808	NM_024306.5(FA2H):c.*505G>T	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 886623	NM_024306.5(FA2H):c.1101C>G (p.Pro367=)	FA2H	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 886553	NM_024306.5(FA2H):c.*885G>T	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
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 885600	NM_024306.5(FA2H):c.*59C>G	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 885599	NM_024306.5(FA2H):c.*165G>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 885598	NM_024306.5(FA2H):c.*185G>T	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 885528	NM_024306.5(FA2H):c.*1074G>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 807416	NM_024306.5(FA2H):c.968C>T (p.Pro323Leu)	FA2H (P323L)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GPathogenic
Select item 807415	NM_024306.5(FA2H):c.1119A>T (p.Ter373Cys)	FA2H	Single nucleotide variant (stop lost)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 803272	NM_024306.5(FA2H):c.160_169del (p.Ala54fs)	FA2H, LOC130059394 (A54fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 803271	NM_024306.5(FA2H):c.340_363+8del	FA2H	Deletion (splice donor variant)	Spastic paraplegia +1 more	GPathogenic/Likely pathogenic
Select item 700437	NM_024306.5(FA2H):c.786+7G>A	FA2H	Single nucleotide variant (intron variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 700054	NM_024306.5(FA2H):c.798C>T (p.Asp266=)	FA2H	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 35 +2 more	GConflicting classifications of pathogenicity
Select item 697866	NM_024306.5(FA2H):c.600G>A (p.Thr200=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 696416	NM_024306.5(FA2H):c.271-8C>A	FA2H	Single nucleotide variant (intron variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 623362	NM_024306.5(FA2H):c.207C>G (p.His69Gln)	FA2H, LOC130059394 (H69Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 617531	NM_024306.5(FA2H):c.910G>A (p.Gly304Ser)	FA2H (G304S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 617530	NM_024306.5(FA2H):c.934G>T (p.Asp312Tyr)	FA2H (D312Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 584457	NM_024306.5(FA2H):c.133G>T (p.Gly45Trp)	FA2H, LOC130059394 (G45W)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 547856	NM_024306.5(FA2H):c.772G>A (p.Gly258Ser)	FA2H (G258S)	Single nucleotide variant (missense variant)	Spastic paraplegia +1 more	GUncertain significance
Select item 514539	NM_024306.5(FA2H):c.771C>T (p.His257=)	FA2H	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia +3 more	GBenign/Likely benign
Select item 488512	NM_024306.5(FA2H):c.102C>G (p.Tyr34Ter)	FA2H, LOC130059394 (Y34*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 35	GPathogenic
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 444377	NM_024306.5(FA2H):c.1112C>T (p.Thr371Met)	FA2H (T371M)	Single nucleotide variant (missense variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 424726	NM_024306.4(FA2H):c.[117C>A];[150_159dupGCGGGCCAGG]			Hereditary spastic paraplegia 35	GLikely pathogenic
Select item 406878	NM_024306.5(FA2H):c.94C>G (p.Arg32Gly)	FA2H, LOC130059394 (R32G)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
Select item 381515	NM_024306.5(FA2H):c.337C>T (p.Arg113Trp)	FA2H (R113W)	Single nucleotide variant (missense variant)	not specified +5 more	GConflicting classifications of pathogenicity
Select item 374759	NM_024306.5(FA2H):c.205C>T (p.His69Tyr)	FA2H, LOC130059394 (H69Y)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	GUncertain significance
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 369127	NM_024306.4(FA2H):c.-84G>C	FA2H, LOC130059394	Single nucleotide variant	not provided +1 more	GBenign
Select item 320502	NM_024306.4(FA2H):c.-74C>T	FA2H, LOC130059394	Single nucleotide variant	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320501	NM_024306.5(FA2H):c.232G>A (p.Glu78Lys)	FA2H (E78K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity
Select item 320500	NM_024306.5(FA2H):c.385C>T (p.Pro129Ser)	FA2H (P129S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320499	NM_024306.5(FA2H):c.429G>A (p.Glu143=)	FA2H	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 35	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 320497	NM_024306.5(FA2H):c.540G>T (p.Val180=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia +1 more	GConflicting classifications of pathogenicity
Select item 320496	NM_024306.5(FA2H):c.570C>A (p.Thr190=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia +2 more	GConflicting classifications of pathogenicity
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 320494	NM_024306.5(FA2H):c.1030C>G (p.Gln344Glu)	FA2H (Q344E)	Single nucleotide variant (missense variant)	Spastic paraplegia +2 more	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	GUncertain significance
Select item 320492	NM_024306.5(FA2H):c.1087A>C (p.Thr363Pro)	FA2H (T363P)	Single nucleotide variant (missense variant)	not provided +3 more	GBenign/Likely benign
Select item 320491	NM_024306.5(FA2H):c.1113G>C (p.Thr371=)	FA2H	Single nucleotide variant (synonymous variant)	Spastic paraplegia +3 more	GConflicting classifications of pathogenicity
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 320489	NM_024306.5(FA2H):c.*62G>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320488	NM_024306.5(FA2H):c.*150C>T	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
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 320486	NM_024306.5(FA2H):c.*253A>G	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
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 320484	NM_024306.5(FA2H):c.*283G>C	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35 +1 more	GBenign
Select item 320483	NM_024306.5(FA2H):c.*302G>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320482	NM_024306.5(FA2H):c.*391C>T	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320481	NM_024306.5(FA2H):c.*404T>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GBenign
Select item 320480	NM_024306.5(FA2H):c.*447C>T	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320479	NM_024306.5(FA2H):c.*506C>G	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320478	NM_024306.5(FA2H):c.*520G>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GLikely benign
Select item 320477	NM_024306.5(FA2H):c.*637G>C	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GBenign
Select item 320476	NM_024306.5(FA2H):c.*646T>G	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320475	NM_024306.5(FA2H):c.*652C>T	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320474	NM_024306.5(FA2H):c.*653G>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320473	NM_024306.5(FA2H):c.*772C>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320472	NM_024306.5(FA2H):c.*783G>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GLikely benign
Select item 320471	NM_024306.5(FA2H):c.*813C>T	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GLikely benign
Select item 320470	NM_024306.5(FA2H):c.*821C>G	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GLikely benign
Select item 320469	NM_024306.5(FA2H):c.*887T>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320468	NM_024306.5(FA2H):c.*911C>A	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GUncertain significance
Select item 320467	NM_024306.5(FA2H):c.*958C>T	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GLikely benign
Select item 320466	NM_024306.5(FA2H):c.*1064C>G	FA2H	Single nucleotide variant (3 prime UTR variant)	Hereditary spastic paraplegia 35	GBenign

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