"Institute of Human Genetics, University of Leipzig Medical Center"[su - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1285527	NM_130811.4(SNAP25):c.72+1G>A	SNAP25	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 1285530	NM_130811.4(SNAP25):c.92G>A (p.Arg31His)	SNAP25 (R31H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1285528	NM_130811.4(SNAP25):c.114+2T>G	SNAP25	Single nucleotide variant (splice donor variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 1172639	NM_130811.4(SNAP25):c.118A>G (p.Lys40Glu)	SNAP25 (K40E)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GLikely pathogenic
Select item 1285516	NM_130811.4(SNAP25):c.127G>C (p.Gly43Arg)	SNAP25 (G43R)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 208672	NM_130811.4(SNAP25):c.142G>T (p.Val48Phe)	SNAP25 (V48F)	Single nucleotide variant (missense variant)	Unilateral Hypotonia +4 more	GLikely pathogenic
Select item 1285517	NM_130811.4(SNAP25):c.149T>C (p.Leu50Ser)	SNAP25 (L50S)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 1285518	NM_130811.4(SNAP25):c.170T>G (p.Leu57Arg)	SNAP25 (L57R)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 1285531	NM_130811.4(SNAP25):c.176G>C (p.Arg59Pro)	SNAP25 (R59P)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1285519	NM_130811.4(SNAP25):c.197A>C (p.Gln66Pro)	SNAP25 (Q66P)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 253030	NM_130811.4(SNAP25):c.200T>A (p.Ile67Asn)	SNAP25 (I67N)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GPathogenic/Likely pathogenic
Select item 1285521	NM_130811.4(SNAP25):c.212T>C (p.Met71Thr)	SNAP25 (M71T)	Single nucleotide variant (missense variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 816911	NM_130811.4(SNAP25):c.220G>A (p.Ala74Thr)	SNAP25 (A74T)	Single nucleotide variant (intron variant +1 more)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1285532	NM_130811.4(SNAP25):c.404G>A (p.Arg135His)	SNAP25 (R135H)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts +1 more	GUncertain significance
Select item 1285533	NM_130811.4(SNAP25):c.464del (p.Gly155fs)	SNAP25 (G155fs)	Deletion (frameshift variant)	Early infantile epileptic encephalopathy with suppression bursts	GUncertain significance
Select item 1285522	NM_130811.4(SNAP25):c.496G>T (p.Asp166Tyr)	SNAP25 (D166Y)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 1285523	NM_130811.4(SNAP25):c.497A>G (p.Asp166Gly)	SNAP25 (D166G)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 1285529	NM_130811.4(SNAP25):c.520C>T (p.Gln174Ter)	SNAP25 (Q174*)	Single nucleotide variant (nonsense)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 1285524	NM_130811.4(SNAP25):c.521A>C (p.Gln174Pro)	SNAP25 (Q174P)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 1285525	NM_130811.4(SNAP25):c.575T>C (p.Ile192Thr)	SNAP25 (I192T)	Single nucleotide variant (missense variant)	Early infantile epileptic encephalopathy with suppression bursts	GLikely pathogenic
Select item 986340	NM_130811.4(SNAP25):c.589C>T (p.Gln197Ter)	SNAP25 (Q197*)	Single nucleotide variant (nonsense)	Congenital myasthenic syndrome 18 +3 more	GLikely pathogenic
Select item 1066155	NM_130811.4(SNAP25):c.593G>C (p.Arg198Pro)	SNAP25 (R198P)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18 +2 more	GLikely pathogenic
Select item 1707536	NM_130811.4(SNAP25):c.596C>A (p.Ala199Glu)	SNAP25 (A199E)	Single nucleotide variant (missense variant)	Developmental and epileptic encephalopathy, 2	GPathogenic
Select item 1285526	NM_130811.4(SNAP25):c.596C>G (p.Ala199Gly)	SNAP25 (A199G)	Single nucleotide variant (missense variant)	Intellectual disability, severe +1 more	GPathogenic/Likely pathogenic
Select item 1065446	NM_130811.4(SNAP25):c.596C>T (p.Ala199Val)	SNAP25 (A199V)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 18 +1 more	GConflicting classifications of pathogenicity
Select item 1285534	NM_130811.4(SNAP25):c.601A>T (p.Lys201Ter)	SNAP25 (K201*)	Single nucleotide variant (nonsense)	Global developmental delay +5 more	GConflicting classifications of pathogenicity

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Items: 26