"PreventionGenetics, part of Exact Sciences"[submitter] AND "SYNJ1"[ge - ClinVar

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Items: 21

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 946789	NM_203446.3(SYNJ1):c.*733G>A	SYNJ1 (G1502S +1 more)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 53 +2 more	GUncertain significance
Select item 478361	NM_203446.3(SYNJ1):c.*728C>T	SYNJ1 (P1586L +1 more)	Single nucleotide variant (missense variant +1 more)	SYNJ1-related disorder +4 more	GLikely benign
Select item 544586	NM_203446.3(SYNJ1):c.*315G>A	SYNJ1	Single nucleotide variant (3 prime UTR variant +1 more)	Developmental and epileptic encephalopathy, 53 +3 more	GBenign/Likely benign
Select item 1022955	NM_203446.3(SYNJ1):c.*110C>T	SYNJ1 (S1294F +1 more)	Single nucleotide variant (missense variant +1 more)	SYNJ1-related disorder +3 more	GUncertain significance
Select item 478352	NM_203446.3(SYNJ1):c.*4G>A	SYNJ1 (V1345I +1 more)	Single nucleotide variant (missense variant +1 more)	SYNJ1-related disorder +3 more	GLikely benign
Select item 478351	NM_203446.3(SYNJ1):c.3762C>T (p.Pro1254=)	SYNJ1	Single nucleotide variant (synonymous variant)	SYNJ1-related disorder +3 more	GLikely benign
Select item 478345	NM_203446.3(SYNJ1):c.3590C>T (p.Thr1197Met)	SYNJ1 (T1236M +3 more)	Single nucleotide variant (missense variant)	not provided +3 more	GLikely benign
Select item 544570	NM_203446.3(SYNJ1):c.3410C>T (p.Pro1137Leu)	SYNJ1 (P1176L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +3 more	GUncertain significance
Select item 478341	NM_203446.3(SYNJ1):c.3369A>G (p.Pro1123=)	SYNJ1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign/Likely benign
Select item 1091449	NM_203446.3(SYNJ1):c.3270A>G (p.Pro1090=)	SYNJ1	Single nucleotide variant (synonymous variant)	SYNJ1-related disorder +3 more	GLikely benign
Select item 1158092	NM_203446.3(SYNJ1):c.2217C>T (p.Asn739=)	SYNJ1	Single nucleotide variant (synonymous variant)	SYNJ1-related disorder +2 more	GLikely benign
Select item 1092383	NM_203446.3(SYNJ1):c.1953-10T>C	SYNJ1	Single nucleotide variant (intron variant)	SYNJ1-related disorder +2 more	GLikely benign
Select item 478331	NM_203446.3(SYNJ1):c.1906G>A (p.Val636Ile)	SYNJ1 (V675I +2 more)	Single nucleotide variant (missense variant)	SYNJ1-related disorder +3 more	GConflicting classifications of pathogenicity
Select item 1156265	NM_203446.3(SYNJ1):c.1257T>G (p.Thr419=)	SYNJ1	Single nucleotide variant (synonymous variant)	SYNJ1-related disorder +2 more	GLikely benign
Select item 478325	NM_203446.3(SYNJ1):c.1119-8G>T	SYNJ1	Single nucleotide variant (intron variant)	SYNJ1-related disorder +4 more	GBenign
Select item 1113763	NM_203446.3(SYNJ1):c.1045A>G (p.Ser349Gly)	SYNJ1 (S349G +1 more)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 53 +2 more	GLikely benign
Select item 478324	NM_203446.3(SYNJ1):c.1030G>A (p.Ala344Thr)	SYNJ1 (A383T +1 more)	Single nucleotide variant (missense variant)	SYNJ1-related disorder +4 more	GLikely benign
Select item 88844	NM_203446.3(SYNJ1):c.656G>A (p.Arg219Gln)	SYNJ1 (R258Q +1 more)	Single nucleotide variant (missense variant)	Early-onset Parkinson disease 20 +2 more	GPathogenic
Select item 478365	NM_203446.3(SYNJ1):c.573A>G (p.Thr191=)	SYNJ1	Single nucleotide variant (synonymous variant)	SYNJ1-related disorder +3 more	GBenign/Likely benign
Select item 478363	NM_203446.3(SYNJ1):c.421T>C (p.Leu141=)	SYNJ1	Single nucleotide variant (synonymous variant)	SYNJ1-related disorder +2 more	GLikely benign
Select item 478326	NM_203446.3(SYNJ1):c.6G>A (p.Ala2=)	SYNJ1	Single nucleotide variant (synonymous variant)	not provided +3 more	GBenign/Likely benign

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Items: 21