ClinVar for Gene (Select 51062) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 597

<< First< Prev

Page of 6

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383045	NM_015915.5(ATL1):c.1006T>C (p.Tyr336His)	ATL1 (Y336H)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A +1 more	GUncertain significance
Select item 3380193	NM_015915.5(ATL1):c.1469C>T (p.Thr490Ile)	ATL1 (T490I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368712	NM_015915.5(ATL1):c.680A>G (p.Tyr227Cys)	ATL1 (Y227C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3365419	NM_015915.5(ATL1):c.1237T>A (p.Phe413Ile)	ATL1 (F413I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3338470	GRCh37/hg19 14q22.1(chr14:50911699-51132124)x4	ATL1, MAP4K5 +1 more	Copy number gain	Neuropathy, hereditary sensory, type 1D	GLikely pathogenic
Select item 3321675	NM_015915.5(ATL1):c.959T>C (p.Ile320Thr)	ATL1 (I320T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321665	NM_015915.5(ATL1):c.1553G>C (p.Gly518Ala)	ATL1 (G518A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3321644	NM_015915.5(ATL1):c.955A>C (p.Lys319Gln)	ATL1 (K319Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321633	NM_015915.5(ATL1):c.311A>T (p.Asn104Ile)	ATL1 (N104I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3321612	NM_015915.5(ATL1):c.1616A>C (p.His539Pro)	ATL1 (H534P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3254710	NM_015915.5(ATL1):c.701A>T (p.Lys234Ile)	ATL1 (K234I)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 3244040	NC_000014.8:g.(?_50697895)_(51288774_?)dup	ATL1, CDKL1 +6 more	Duplication	Noonan syndrome 9	GUncertain significance
Select item 3244010	NC_000014.8:g.(?_51087297)_(51099057_?)del	ATL1	Deletion	Hereditary spastic paraplegia 3A	GUncertain significance
Select item 3244009	NC_000014.8:g.(?_51087297)_(51095200_?)del	ATL1	Deletion	Hereditary spastic paraplegia 3A	GPathogenic
Select item 3234640	NM_015915.5(ATL1):c.1370T>C (p.Ile457Thr)	ATL1 (I457T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3131059	NM_015915.5(ATL1):c.509T>C (p.Ile170Thr)	ATL1 (I170T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3131057	NM_015915.5(ATL1):c.1614TCA[1] (p.His539del)	ATL1 (H534del +1 more)	Microsatellite (inframe_deletion +1 more)	Inborn genetic diseases	GUncertain significance
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)	Hereditary spastic paraplegia 3A +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 2921195	NM_015915.5(ATL1):c.418-8G>T	ATL1	Single nucleotide variant (intron variant)	not provided	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 2688625	NM_015915.5(ATL1):c.602T>C (p.Met201Thr)	ATL1 (M201T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684714	GRCh37/hg19 14q11.2-23.1(chr14:20511673-61826023)x3	ABHD12B, ABHD4 +289 more	Copy number gain	not provided	GPathogenic
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 2644232	NM_015915.5(ATL1):c.1269T>G (p.Ser423Arg)	ATL1 (S423R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2644231	NM_015915.5(ATL1):c.1212G>A (p.Gly404=)	ATL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644230	NM_015915.5(ATL1):c.630+6C>T	ATL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2644229	NM_015915.5(ATL1):c.486A>G (p.Thr162=)	ATL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2644228	NM_015915.5(ATL1):c.417+4T>A	ATL1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2633006	NM_015915.5(ATL1):c.218C>T (p.Ala73Val)	ATL1 (A73V)	Single nucleotide variant (missense variant)	ATL1-related disorder	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 2580738	NM_015915.5(ATL1):c.1430G>C (p.Cys477Ser)	ATL1 (C477S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578716	NM_015915.5(ATL1):c.*87C>G	ATL1	Single nucleotide variant (3 prime UTR variant)	not provided	GLikely benign
Select item 2578715	NM_015915.5(ATL1):c.439A>T (p.Thr147Ser)	ATL1 (T147S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2578138	NM_015915.5(ATL1):c.404C>T (p.Pro135Leu)	ATL1 (P135L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2576164	NM_015915.5(ATL1):c.1120-1086T>C	ATL1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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

<< First< Prev

Page of 6