ClinVar for MedGen (Select 419393) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068177	NM_015915.5(ATL1):c.991-12_991-11insA	ATL1	Insertion (intron variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 3065899	NM_015915.5(ATL1):c.1566+1G>C	ATL1	Single nucleotide variant (intron variant +1 more)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 3061971	NM_015915.5(ATL1):c.749T>G (p.Leu250Arg)	ATL1 (L250R)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1D +1 more	Gnot provided
Select item 3020202	NM_015915.5(ATL1):c.1611G>C (p.Leu537=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 3018655	NM_015915.5(ATL1):c.283-20T>C	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 3016019	NM_015915.5(ATL1):c.1197G>C (p.Val399=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 3013782	NM_015915.5(ATL1):c.1048-7T>C	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 3013724	NM_015915.5(ATL1):c.54A>G (p.Thr18=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 3005485	NM_015915.5(ATL1):c.1047+4T>C	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 3002259	NM_015915.5(ATL1):c.444G>A (p.Gln148=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2998619	NM_015915.5(ATL1):c.1552G>A (p.Gly518Arg)	ATL1 (G518R)	Single nucleotide variant (missense variant +1 more)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2996452	NM_015915.5(ATL1):c.724-9T>G	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2989808	NM_015915.5(ATL1):c.271A>G (p.Met91Val)	ATL1 (M91V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2988319	NM_015915.5(ATL1):c.1551+10C>T	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2982713	NM_015915.5(ATL1):c.996T>C (p.Tyr332=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2969844	NM_015915.5(ATL1):c.34+16G>T	ATL1, MAP4K5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2969762	NM_015915.5(ATL1):c.26A>G (p.Asn9Ser)	ATL1, MAP4K5 (N9S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2965647	NM_015915.5(ATL1):c.630+15A>T	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2965565	NM_015915.5(ATL1):c.1449G>C (p.Leu483=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2919519	NM_015915.5(ATL1):c.1097C>T (p.Thr366Ile)	ATL1 (T366I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2916473	NM_015915.5(ATL1):c.1119+19A>G	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2911757	NM_015915.5(ATL1):c.348T>C (p.Ser116=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2910353	NM_015915.5(ATL1):c.1259A>C (p.Gln420Pro)	ATL1 (Q420P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2908843	NM_015915.5(ATL1):c.111C>A (p.Val37=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2906833	NM_015915.5(ATL1):c.126T>C (p.Asp42=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2905369	NM_015915.5(ATL1):c.1035A>G (p.Lys345=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2903710	NM_015915.5(ATL1):c.34+6T>G	ATL1, MAP4K5	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2902741	NM_015915.5(ATL1):c.1566+10dup	ATL1	Duplication (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2891901	NM_015915.5(ATL1):c.1423A>G (p.Ser475Gly)	ATL1 (S475G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2890546	NM_015915.5(ATL1):c.282+18T>G	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2870641	NM_015915.5(ATL1):c.1203A>T (p.Leu401=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2862929	NM_015915.5(ATL1):c.463T>C (p.Ser155Pro)	ATL1 (S155P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2860253	NM_015915.5(ATL1):c.336G>A (p.Trp112Ter)	ATL1 (W112*)	Single nucleotide variant (nonsense)	Hereditary spastic paraplegia 3A	GPathogenic
Select item 2852117	NM_015915.5(ATL1):c.634C>T (p.Leu212=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2842309	NM_015915.5(ATL1):c.574C>A (p.Leu192Ile)	ATL1 (L192I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2831861	NM_015915.5(ATL1):c.317C>G (p.Pro106Arg)	ATL1 (P106R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2826561	NM_015915.5(ATL1):c.1030_1040del (p.Pro344fs)	ATL1 (P344fs)	Deletion (frameshift variant)	Hereditary spastic paraplegia 3A	GPathogenic
Select item 2821441	NM_015915.5(ATL1):c.1144C>G (p.Leu382Val)	ATL1 (L382V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2816522	NM_015915.5(ATL1):c.574C>G (p.Leu192Val)	ATL1 (L192V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2812893	NM_015915.5(ATL1):c.583G>A (p.Glu195Lys)	ATL1 (E195K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2810654	NM_015915.5(ATL1):c.763A>G (p.Lys255Glu)	ATL1 (K255E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2802151	NM_015915.5(ATL1):c.1485G>C (p.Arg495=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2790222	NM_015915.5(ATL1):c.35-16C>T	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2785382	NM_015915.5(ATL1):c.249G>A (p.Leu83=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2783078	NM_015915.5(ATL1):c.421G>T (p.Ala141Ser)	ATL1 (A141S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2779230	NM_015915.5(ATL1):c.552G>A (p.Glu184=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2777683	NM_015915.5(ATL1):c.631-20C>G	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2770302	NM_015915.5(ATL1):c.48A>C (p.Glu16Asp)	ATL1 (E16D)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2755164	NM_015915.5(ATL1):c.531C>T (p.Asn177=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2750592	NM_015915.5(ATL1):c.1129G>A (p.Gly377Ser)	ATL1 (G377S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2742467	NM_015915.5(ATL1):c.1567-12del	ATL1	Deletion (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2742148	NM_015915.5(ATL1):c.1079T>G (p.Val360Gly)	ATL1 (V360G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2736110	NM_015915.5(ATL1):c.1376A>G (p.Tyr459Cys)	ATL1 (Y459C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GLikely pathogenic
Select item 2736109	NM_015915.5(ATL1):c.1221G>C (p.Lys407Asn)	ATL1 (K407N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2729439	NM_015915.5(ATL1):c.450C>A (p.Thr150=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2727742	NM_015915.5(ATL1):c.1566+10A>T	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2727608	NM_015915.5(ATL1):c.582T>G (p.Thr194=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2727357	NM_015915.5(ATL1):c.177G>A (p.Ser59=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2725594	NM_015915.5(ATL1):c.1037C>T (p.Ser346Phe)	ATL1 (S346F)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2723402	NM_015915.5(ATL1):c.192C>T (p.Asp64=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2703137	NM_015915.5(ATL1):c.283-20del	ATL1	Deletion (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2698667	NM_015915.5(ATL1):c.35-1G>A	ATL1	Single nucleotide variant (splice acceptor variant)	Hereditary spastic paraplegia 3A	GLikely pathogenic
Select item 2671970	NM_015915.5(ATL1):c.709G>A (p.Glu237Lys)	ATL1 (E237K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2626787	NM_015915.5(ATL1):c.522+1G>T	ATL1	Single nucleotide variant (splice donor variant)	Hereditary spastic paraplegia 3A	GLikely pathogenic
Select item 2571520	NM_015915.5(ATL1):c.460C>G (p.Gln154Glu)	ATL1 (Q154E)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2571519	NM_015915.5(ATL1):c.452T>C (p.Phe151Ser)	ATL1 (F151S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2571518	NM_015915.5(ATL1):c.1504dup (p.Glu502fs)	ATL1 (E502fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2571517	NM_015915.5(ATL1):c.1474dup (p.Ala492fs)	ATL1 (A492fs)	Duplication (frameshift variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2571516	NM_015915.5(ATL1):c.1465_1466dup (p.Thr490fs)	ATL1 (T490fs)	Microsatellite (frameshift variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2571515	NM_015915.5(ATL1):c.1319A>C (p.Asn440Thr)	ATL1 (N440T)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2571514	NM_015915.5(ATL1):c.1237T>G (p.Phe413Val)	ATL1 (F413V)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2571513	NM_015915.5(ATL1):c.1237T>C (p.Phe413Leu)	ATL1 (F413L)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2571511	NM_015915.5(ATL1):c.1193C>T (p.Ser398Phe)	ATL1 (S398F)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2571510	NM_015915.5(ATL1):c.1030C>T (p.Pro344Ser)	ATL1 (P344S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2571509	NM_015915.5(ATL1):c.1025C>A (p.Pro342Gln)	ATL1 (P342Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2571508	NM_015915.5(ATL1):c.1024C>T (p.Pro342Ser)	ATL1 (P342S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2504637	NM_015915.5(ATL1):c.1208G>C (p.Arg403Pro)	ATL1 (R403P)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GLikely pathogenic
Select item 2504269	NM_015915.5(ATL1):c.757G>T (p.Val253Phe)	ATL1 (V253F)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2444332	NM_015915.5(ATL1):c.1041G>T (p.Met347Ile)	ATL1 (M347I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GLikely pathogenic
Select item 2439312	NM_015915.5(ATL1):c.1602C>A (p.His534Gln)	ATL1 (H529Q +1 more)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +1 more	GUncertain significance
Select item 2426243	NC_000014.8:g.(?_51026984)_(51099057_?)dup	ATL1	Duplication	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2416479	NM_015915.5(ATL1):c.1374A>G (p.Thr458=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2195111	NM_015915.5(ATL1):c.375A>G (p.Ile125Met)	ATL1 (I125M)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2188202	NM_015915.5(ATL1):c.947A>G (p.Asn316Ser)	ATL1 (N316S)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2181809	NM_015915.5(ATL1):c.1267A>G (p.Ser423Gly)	ATL1 (S423G)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2179806	NM_015915.5(ATL1):c.1484G>A (p.Arg495Gln)	ATL1 (R495Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GLikely pathogenic
Select item 2177313	NM_015915.5(ATL1):c.1347C>T (p.Ala449=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2177157	NM_015915.5(ATL1):c.884A>G (p.Lys295Arg)	ATL1 (K295R)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2172855	NM_015915.5(ATL1):c.574-20G>A	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2169953	NM_015915.5(ATL1):c.1120-11_1120-8del	ATL1	Deletion (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2169827	NM_015915.5(ATL1):c.1201C>T (p.Leu401=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2169217	NM_015915.5(ATL1):c.35-15T>C	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2161914	NM_015915.5(ATL1):c.1309G>A (p.Asp437Asn)	ATL1 (D437N)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2159254	NM_015915.5(ATL1):c.1336C>T (p.Arg446Cys)	ATL1 (R446C)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 2157562	NM_015915.5(ATL1):c.1311T>C (p.Asp437=)	ATL1	Single nucleotide variant (synonymous variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2156450	NM_015915.5(ATL1):c.418-19G>A	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2154672	NM_015915.5(ATL1):c.1120-10T>C	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2151969	NM_015915.5(ATL1):c.70G>C (p.Glu24Gln)	ATL1 (E24Q)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +1 more	GConflicting classifications of pathogenicity
Select item 2147248	NM_015915.5(ATL1):c.991-19T>A	ATL1	Single nucleotide variant (intron variant)	Hereditary spastic paraplegia 3A	GLikely benign
Select item 2147076	NM_015915.5(ATL1):c.573+24dup	ATL1	Duplication (intron variant)	Hereditary spastic paraplegia 3A	GBenign

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