ClinVar for MedGen (Select 816154) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064360	NM_203446.3(SYNJ1):c.319C>T (p.Arg107Ter)	SYNJ1 (R107* +1 more)	Single nucleotide variant (nonsense)	Early-onset Parkinson disease 20	GUncertain significance
Select item 2953557	NM_203446.3(SYNJ1):c.1116A>G (p.Gln372=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2953381	NM_203446.3(SYNJ1):c.258T>G (p.Ser86=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2953347	NM_203446.3(SYNJ1):c.3303G>A (p.Gln1101=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2953298	NM_203446.3(SYNJ1):c.*453A>G	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2952550	NM_203446.3(SYNJ1):c.345C>T (p.Arg115=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2952193	NM_203446.3(SYNJ1):c.242T>G (p.Val81Gly)	SYNJ1 (V81G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 2951622	NM_203446.3(SYNJ1):c.*18A>G	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2951464	NM_203446.3(SYNJ1):c.479+17C>T	SYNJ1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2951303	NM_203446.3(SYNJ1):c.-79T>G	SYNJ1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2951293	NM_203446.3(SYNJ1):c.1797C>T (p.Asn599=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2950492	NM_203446.3(SYNJ1):c.*387A>G	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2950483	NM_203446.3(SYNJ1):c.2406T>C (p.Pro802=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2950397	NM_203446.3(SYNJ1):c.3478+13T>C	SYNJ1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2949932	NM_203446.2(SYNJ1):c.6G>A (p.Arg2=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2949769	NM_203446.3(SYNJ1):c.2196C>T (p.Asn732=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2949491	NM_203446.3(SYNJ1):c.3479-18dup	SYNJ1	Duplication (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GBenign
Select item 2948742	NM_203446.3(SYNJ1):c.*135C>T	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2948053	NM_203446.3(SYNJ1):c.3756T>C (p.Ser1252=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2946903	NM_203446.3(SYNJ1):c.876A>G (p.Leu292=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2946200	NM_203446.3(SYNJ1):c.2298T>C (p.Ala766=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2946094	NM_203446.3(SYNJ1):c.1213C>T (p.Gln405Ter)	SYNJ1 (Q405* +1 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 53 +1 more	GPathogenic
Select item 2945626	NM_203446.3(SYNJ1):c.2875-15_2875-14del	SYNJ1	Microsatellite (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2945367	NM_203446.3(SYNJ1):c.219T>C (p.Thr73=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2945224	NM_203446.2(SYNJ1):c.7delA (p.Lys3Argfs)	SYNJ1 (K3fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 53 +1 more	GPathogenic
Select item 2944868	NM_203446.3(SYNJ1):c.3589-1G>A	SYNJ1	Single nucleotide variant (splice acceptor variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely pathogenic
Select item 2944732	NM_203446.3(SYNJ1):c.2211C>T (p.Leu737=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2943370	NM_203446.3(SYNJ1):c.-22-5C>T	SYNJ1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2941867	NM_203446.3(SYNJ1):c.851+15A>G	SYNJ1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2941773	NM_203446.3(SYNJ1):c.*634C>T	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2941720	NM_203446.3(SYNJ1):c.3663T>G (p.Pro1221=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2941500	NM_203446.3(SYNJ1):c.3248-12T>C	SYNJ1	Single nucleotide variant (intron variant)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2941251	NM_203446.3(SYNJ1):c.1201-8T>G	SYNJ1	Single nucleotide variant (intron variant)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2941103	NM_203446.3(SYNJ1):c.3915+20C>G	SYNJ1	Single nucleotide variant (intron variant)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2940733	NM_203446.3(SYNJ1):c.*762G>C	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2940465	NM_203446.3(SYNJ1):c.480-18T>A	SYNJ1	Single nucleotide variant (intron variant)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2940368	NM_203446.3(SYNJ1):c.*321T>C	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2940105	NM_203446.3(SYNJ1):c.211+11C>T	SYNJ1	Single nucleotide variant (intron variant)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2939711	NM_203446.3(SYNJ1):c.3478+9A>T	SYNJ1	Single nucleotide variant (intron variant)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2939371	NM_203446.3(SYNJ1):c.3507A>G (p.Lys1169=)	SYNJ1	Single nucleotide variant (synonymous variant +1 more)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2939180	NM_203446.3(SYNJ1):c.1812-16del	SYNJ1	Deletion (intron variant)	Early-onset Parkinson disease 20 +1 more	GBenign
Select item 2938897	NM_203446.3(SYNJ1):c.2145+8C>G	SYNJ1	Single nucleotide variant (intron variant)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2938732	NM_203446.3(SYNJ1):c.702A>G (p.Glu234=)	SYNJ1	Single nucleotide variant (synonymous variant)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2938721	NM_203446.3(SYNJ1):c.297T>C (p.Thr99=)	SYNJ1	Single nucleotide variant (synonymous variant)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2938531	NM_203446.3(SYNJ1):c.-23+8A>G	SYNJ1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2938405	NM_203446.3(SYNJ1):c.3273A>G (p.Ala1091=)	SYNJ1	Single nucleotide variant (synonymous variant)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2938315	NM_203446.3(SYNJ1):c.2704A>G (p.Ser902Gly)	SYNJ1 (S897G +2 more)	Single nucleotide variant (missense variant)	Early-onset Parkinson disease 20 +1 more	GUncertain significance
Select item 2937749	NM_203446.3(SYNJ1):c.*750A>G	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2937396	NM_203446.3(SYNJ1):c.949-7C>T	SYNJ1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2937261	NM_203446.3(SYNJ1):c.1727-11C>T	SYNJ1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2937223	NM_203446.3(SYNJ1):c.3915+18C>A	SYNJ1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2936614	NM_203446.3(SYNJ1):c.3439G>A (p.Ala1147Thr)	SYNJ1 (A1186T +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 2936544	NM_203446.3(SYNJ1):c.783G>A (p.Gly261=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2936446	NM_203446.3(SYNJ1):c.1480C>T (p.Arg494Ter)	SYNJ1 (R494* +2 more)	Single nucleotide variant (nonsense)	Developmental and epileptic encephalopathy, 53 +1 more	GPathogenic
Select item 2936324	NM_203446.3(SYNJ1):c.3018A>G (p.Ala1006=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2936201	NM_203446.3(SYNJ1):c.1101T>C (p.Asn367=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2936108	NM_203446.3(SYNJ1):c.*168T>C	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2935693	NM_203446.3(SYNJ1):c.609C>T (p.Leu203=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2935690	NM_203446.3(SYNJ1):c.3392-12A>G	SYNJ1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2935667	NM_203446.3(SYNJ1):c.2106A>G (p.Glu702=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2935640	NM_203446.3(SYNJ1):c.1698C>A (p.Pro566=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2935459	NM_203446.3(SYNJ1):c.*681T>C	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2935344	NM_203446.3(SYNJ1):c.*230C>T	SYNJ1 (A1334V +1 more)	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 2935306	NM_203446.3(SYNJ1):c.450A>G (p.Gln150=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2935267	NM_203446.3(SYNJ1):c.750A>G (p.Arg250=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2935252	NM_203446.3(SYNJ1):c.-23+16G>T	SYNJ1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2935104	NM_203446.3(SYNJ1):c.596C>T (p.Ala199Val)	SYNJ1 (A238V +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 53 +1 more	GUncertain significance
Select item 2935019	NM_203446.3(SYNJ1):c.3247+2T>G	SYNJ1	Single nucleotide variant (splice donor variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely pathogenic
Select item 2934960	NM_203446.3(SYNJ1):c.1510+14A>G	SYNJ1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2934901	NM_203446.3(SYNJ1):c.212-15C>A	SYNJ1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2934840	NM_203446.3(SYNJ1):c.561A>G (p.Val187=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2934278	NM_203446.3(SYNJ1):c.*210A>C	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2934275	NM_203446.3(SYNJ1):c.*639A>G	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2934223	NM_203446.3(SYNJ1):c.1227T>C (p.Leu409=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2933888	NM_203446.3(SYNJ1):c.3248-4T>C	SYNJ1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2933830	NM_203446.3(SYNJ1):c.1353+20A>G	SYNJ1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2933548	NM_203446.3(SYNJ1):c.1854A>G (p.Thr618=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2933509	NM_203446.3(SYNJ1):c.*117A>G	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2933271	NM_203446.3(SYNJ1):c.790-14T>G	SYNJ1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2932725	NM_203446.3(SYNJ1):c.3915+20C>T	SYNJ1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2932437	NM_203446.3(SYNJ1):c.3431-11del	SYNJ1	Deletion (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2932383	NM_203446.3(SYNJ1):c.2586C>G (p.Val862=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2932223	NM_203446.3(SYNJ1):c.*576A>G	SYNJ1	Single nucleotide variant (synonymous variant +1 more)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2931655	NM_203446.3(SYNJ1):c.1353+15A>G	SYNJ1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2931403	NM_203446.3(SYNJ1):c.2736T>C (p.Asp912=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2931326	NM_203446.3(SYNJ1):c.2304+15G>C	SYNJ1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2931325	NM_203446.3(SYNJ1):c.2304+17_2304+20del	SYNJ1	Deletion (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2931047	NM_203446.3(SYNJ1):c.3216G>A (p.Pro1072=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2930939	NM_203446.3(SYNJ1):c.2145+14G>A	SYNJ1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2930508	NM_203446.3(SYNJ1):c.2877A>G (p.Leu959=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2930123	NM_203446.3(SYNJ1):c.942T>G (p.Ala314=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2929736	NM_203446.3(SYNJ1):c.2091C>G (p.Val697=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2929648	NM_203446.3(SYNJ1):c.2211C>G (p.Leu737=)	SYNJ1	Single nucleotide variant (synonymous variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2929643	NM_203446.3(SYNJ1):c.3038-12G>A	SYNJ1	Single nucleotide variant (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign
Select item 2929500	NM_203446.3(SYNJ1):c.3252T>G (p.Ser1084=)	SYNJ1	Single nucleotide variant (synonymous variant)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2929142	NM_203446.3(SYNJ1):c.453A>G (p.Glu151=)	SYNJ1	Single nucleotide variant (synonymous variant)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2929075	NM_203446.3(SYNJ1):c.3589-4G>A	SYNJ1	Single nucleotide variant (intron variant)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2928963	NM_203446.3(SYNJ1):c.3248-16_3248-14del	SYNJ1	Microsatellite (intron variant)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2928429	NM_203446.3(SYNJ1):c.-70C>T	SYNJ1	Single nucleotide variant (synonymous variant +1 more)	Early-onset Parkinson disease 20 +1 more	GLikely benign
Select item 2928157	NM_203446.3(SYNJ1):c.-23+12_-23+13dup	SYNJ1	Duplication (intron variant)	Developmental and epileptic encephalopathy, 53 +1 more	GLikely benign

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