ClinVar for MedGen (Select 816524) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068431	NM_015459.5(ATL3):c.208C>T (p.Arg70Ter)	ATL3 (R52* +1 more)	Single nucleotide variant (nonsense)	Neuropathy, hereditary sensory, type 1F	GPathogenic
Select item 3023999	NM_015459.5(ATL3):c.792C>T (p.Leu264=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 3023263	NM_015459.5(ATL3):c.46+20del	ATL3	Deletion (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 3019058	NM_015459.5(ATL3):c.1257G>A (p.Glu419=)	ATL3, LOC126861231	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 3014475	NM_015459.5(ATL3):c.561+3A>G	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 3012920	NM_015459.5(ATL3):c.406-10T>C	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 3003198	NM_015459.5(ATL3):c.619-10T>C	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 3001545	NM_015459.5(ATL3):c.78A>G (p.Pro26=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2995168	NM_015459.5(ATL3):c.622C>G (p.Leu208Val)	ATL3 (L208V +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2990127	NM_015459.5(ATL3):c.712-15G>C	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2982320	NM_015459.5(ATL3):c.618+5G>A	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2977829	NM_015459.5(ATL3):c.1305G>T (p.Lys435Asn)	LOC126861231, ATL3 (K417N +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2977040	NM_015459.5(ATL3):c.1382C>G (p.Thr461Ser)	ATL3 (T443S +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2965614	NM_015459.5(ATL3):c.1235G>A (p.Arg412His)	ATL3, LOC126861231 (R394H +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2963897	NM_015459.5(ATL3):c.1364A>T (p.Tyr455Phe)	ATL3 (Y437F +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2917326	NM_015459.5(ATL3):c.894G>A (p.Pro298=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2917083	NM_015459.5(ATL3):c.47-17dup	ATL3	Duplication (intron variant)	Neuropathy, hereditary sensory, type 1F	GBenign
Select item 2915461	NM_015459.5(ATL3):c.758T>C (p.Ile253Thr)	ATL3 (I253T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2915248	NM_015459.5(ATL3):c.1526A>C (p.Tyr509Ser)	ATL3 (Y491S +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2915015	NM_015459.5(ATL3):c.887T>G (p.Leu296Arg)	ATL3 (L278R +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2912472	NM_015459.5(ATL3):c.1391dup (p.Gly465fs)	ATL3 (G465fs +1 more)	Duplication (frameshift variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2906241	NM_015459.5(ATL3):c.262-9C>G	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2904979	NM_015459.5(ATL3):c.1077C>T (p.Ala359=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2897715	NM_015459.5(ATL3):c.724C>T (p.Gln242Ter)	ATL3 (Q242* +1 more)	Single nucleotide variant (nonsense)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2894439	NM_015459.5(ATL3):c.1107+12A>G	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2891343	NM_015459.5(ATL3):c.1108-8C>G	ATL3, LOC126861231	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2887465	NM_015459.5(ATL3):c.850+18T>C	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2886297	NM_015459.5(ATL3):c.1052A>G (p.Asn351Ser)	ATL3 (N333S +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2885904	NM_015459.5(ATL3):c.1139_1140del (p.Pro380fs)	ATL3, LOC126861231 (P362fs +1 more)	Deletion (frameshift variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2880301	NM_015459.5(ATL3):c.1440G>C (p.Leu480=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2876036	NM_015459.5(ATL3):c.816G>A (p.Val272=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2872860	NM_015459.5(ATL3):c.1107+4C>G	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2872586	NM_015459.5(ATL3):c.713T>C (p.Val238Ala)	ATL3 (V238A +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2866778	NM_015459.5(ATL3):c.1108-15C>T	ATL3, LOC126861231	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2863665	NM_015459.5(ATL3):c.963A>G (p.Leu321=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2862537	NM_015459.5(ATL3):c.851-13G>T	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2861873	NM_015459.5(ATL3):c.1108-15C>A	ATL3, LOC126861231	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2852021	NM_015459.5(ATL3):c.1001_1003del (p.Gly334del)	ATL3 (G316del +1 more)	Deletion (inframe_deletion)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2851199	NM_015459.5(ATL3):c.774C>T (p.Ser258=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2848727	NM_015459.5(ATL3):c.1620T>A (p.Ala540=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2842302	NM_015459.5(ATL3):c.1115G>A (p.Gly372Glu)	ATL3, LOC126861231 (G354E +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2841874	NM_015459.5(ATL3):c.225dup (p.Ile76fs)	ATL3 (I76fs +1 more)	Duplication (frameshift variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2838460	NM_015459.5(ATL3):c.593A>G (p.Asp198Gly)	ATL3 (D198G +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2826732	NM_015459.5(ATL3):c.1118dup (p.Glu374fs)	ATL3, LOC126861231 (E356fs +1 more)	Duplication (frameshift variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2826040	NM_015459.5(ATL3):c.1501G>T (p.Gly501Ter)	ATL3 (G483* +1 more)	Single nucleotide variant (nonsense)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2808506	NM_015459.5(ATL3):c.687G>A (p.Met229Ile)	ATL3 (M211I +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2804888	NM_015459.5(ATL3):c.545A>G (p.Asp182Gly)	ATL3 (D164G +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2802162	NM_015459.5(ATL3):c.714dup (p.Lys239fs)	ATL3 (K221fs +1 more)	Duplication (frameshift variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2801528	NM_015459.5(ATL3):c.803C>A (p.Pro268Gln)	ATL3 (P268Q +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2801275	NM_015459.5(ATL3):c.656A>G (p.Tyr219Cys)	ATL3 (Y201C +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2792319	NM_015459.5(ATL3):c.19G>C (p.Val7Leu)	ATL3 (V7L)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2791928	NM_015459.5(ATL3):c.1035+1G>A	ATL3	Single nucleotide variant (splice donor variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2779961	NM_015459.5(ATL3):c.1180G>A (p.Ala394Thr)	ATL3, LOC126861231 (A376T +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2776416	NM_015459.5(ATL3):c.851-17T>C	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2769069	NM_015459.5(ATL3):c.1056C>G (p.Asn352Lys)	ATL3 (N334K +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2765921	NM_015459.5(ATL3):c.618G>A (p.Gln206=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2765316	NM_015459.5(ATL3):c.246A>G (p.Arg82=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2747047	NM_015459.5(ATL3):c.1573A>G (p.Thr525Ala)	ATL3 (T507A +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2745706	NM_015459.5(ATL3):c.505G>C (p.Val169Leu)	ATL3 (V151L +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2741376	NM_015459.5(ATL3):c.850+8C>T	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2731185	NM_015459.5(ATL3):c.1540-12G>T	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2729745	NM_015459.5(ATL3):c.1170C>A (p.Phe390Leu)	ATL3, LOC126861231 (F372L +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2725622	NM_015459.5(ATL3):c.1140A>G (p.Pro380=)	ATL3, LOC126861231	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2724054	NM_015459.5(ATL3):c.1347G>T (p.Thr449=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2722596	NM_015459.5(ATL3):c.1605C>T (p.Ser535=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2721855	NM_015459.5(ATL3):c.150C>T (p.Leu50=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2715707	NM_015459.5(ATL3):c.62G>A (p.Ser21Asn)	ATL3 (S21N +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2709207	NM_015459.5(ATL3):c.749G>A (p.Arg250Gln)	ATL3 (R250Q +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2701775	NM_015459.5(ATL3):c.562-11_562-9del	ATL3	Microsatellite (intron variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2641900	NM_015459.5(ATL3):c.14A>G (p.Gln5Arg)	ATL3 (Q5R)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory, type 1F +1 more	GUncertain significance
Select item 2428209	NM_015459.5(ATL3):c.406-17A>C	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2426154	NC_000011.9:g.(?_63426213)_(63438807_?)dup	ATL3	Duplication	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2201353	NM_015459.5(ATL3):c.252A>G (p.Leu84=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2198593	NM_015459.5(ATL3):c.1371C>T (p.Ala457=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GBenign
Select item 2193194	NM_015459.5(ATL3):c.1308C>T (p.Asn436=)	ATL3, LOC126861231	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2191987	NM_015459.5(ATL3):c.900A>G (p.Val300=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2189669	NM_015459.5(ATL3):c.1286G>A (p.Cys429Tyr)	ATL3, LOC126861231 (C411Y +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2165922	NM_015459.5(ATL3):c.717G>A (p.Lys239=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2155718	NM_015459.5(ATL3):c.47-10A>G	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2151776	NM_015459.5(ATL3):c.261+15T>G	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2143717	NM_015459.5(ATL3):c.893C>T (p.Pro298Leu)	ATL3 (P280L +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2141835	NM_015459.5(ATL3):c.399G>C (p.Gly133=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2135590	NM_015459.5(ATL3):c.11C>T (p.Pro4Leu)	ATL3 (P4L)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2124469	NM_015459.5(ATL3):c.483T>C (p.Ala161=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2115256	NM_015459.5(ATL3):c.978+18T>G	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2110799	NM_015459.5(ATL3):c.851-20_851-18del	ATL3	Microsatellite (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2104030	NM_015459.5(ATL3):c.647G>A (p.Ser216Asn)	ATL3 (S198N +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2100816	NM_015459.5(ATL3):c.561+9T>G	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2100656	NM_015459.5(ATL3):c.229C>T (p.Leu77=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2093309	NM_015459.5(ATL3):c.1524A>G (p.Ala508=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2090727	NM_015459.5(ATL3):c.978G>A (p.Lys326=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2087240	NM_015459.5(ATL3):c.492T>G (p.Thr164=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2086176	NM_015459.5(ATL3):c.1347G>A (p.Thr449=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2079769	NM_015459.5(ATL3):c.511-15A>G	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2060235	NM_015459.5(ATL3):c.850+9C>T	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2050033	NM_015459.5(ATL3):c.70C>T (p.Pro24Ser)	ATL3 (P24S +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2047856	NM_015459.5(ATL3):c.405+20T>C	ATL3	Single nucleotide variant (intron variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2042251	NM_015459.5(ATL3):c.445A>G (p.Ser149Gly)	ATL3 (S131G +1 more)	Single nucleotide variant (missense variant)	Neuropathy, hereditary sensory, type 1F	GUncertain significance
Select item 2020499	NM_015459.5(ATL3):c.1407A>G (p.Val469=)	ATL3	Single nucleotide variant (synonymous variant)	Neuropathy, hereditary sensory, type 1F	GLikely benign
Select item 2016741	NM_015459.5(ATL3):c.29C>T (p.Ala10Val)	ATL3 (A10V)	Single nucleotide variant (missense variant +1 more)	Neuropathy, hereditary sensory, type 1F	GUncertain significance

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