C2751807[trait identifier] AND "Genome-Nilou Lab"[submitter] - ClinVar

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Items: 31

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 130430	NM_182961.4(SYNE1):c.25038T>C (p.Arg8346=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +4 more	GBenign
Select item 130419	NM_182961.4(SYNE1):c.21904T>G (p.Phe7302Val)	SYNE1 (F7231V +1 more)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 3, myogenic type +4 more	GBenign/Likely benign
Select item 262176	NM_182961.4(SYNE1):c.19471-18C>T	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +3 more	GBenign
Select item 262172	NM_182961.4(SYNE1):c.17346+38C>T	SYNE1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 130412	NM_182961.4(SYNE1):c.17346+7G>A	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +4 more	GBenign
Select item 670185	NM_182961.4(SYNE1):c.17203-48G>A	SYNE1	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 3, myogenic type +3 more	GBenign
Select item 262171	NM_182961.4(SYNE1):c.17202+24G>A	LOC126859837, SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +3 more	GBenign
Select item 130408	NM_182961.4(SYNE1):c.15043T>A (p.Leu5015Met)	SYNE1 (L4944M +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +4 more	GBenign
Select item 130404	NM_182961.4(SYNE1):c.13786T>A (p.Ser4596Thr)	SYNE1 (S4525T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +4 more	GBenign
Select item 262160	NM_182961.4(SYNE1):c.12795-12A>G	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +3 more	GBenign
Select item 130399	NM_182961.4(SYNE1):c.12362A>G (p.Lys4121Arg)	SYNE1 (K4050R +1 more)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 262158	NM_182961.4(SYNE1):c.12352-39A>G	SYNE1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 130397	NM_182961.4(SYNE1):c.12180G>T (p.Glu4060Asp)	SYNE1 (E3989D +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +4 more	GBenign
Select item 263075	NM_182961.4(SYNE1):c.11734-5T>G	SYNE1	Single nucleotide variant (intron variant)	Arthrogryposis multiplex congenita 3, myogenic type +4 more	GBenign
Select item 355885	NM_182961.4(SYNE1):c.11581-15dup	SYNE1	Duplication (intron variant)	Arthrogryposis multiplex congenita 3, myogenic type +5 more	GBenign
Select item 262154	NM_182961.4(SYNE1):c.11580+15C>T	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +3 more	GBenign
Select item 262153	NM_182961.4(SYNE1):c.11254-31T>G	SYNE1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 130393	NM_182961.4(SYNE1):c.10866T>C (p.Ser3622=)	SYNE1	Single nucleotide variant (synonymous variant +1 more)	not provided +4 more	GBenign
Select item 130388	NM_182961.4(SYNE1):c.10191C>A (p.Gly3397=)	SYNE1	Single nucleotide variant (synonymous variant)	not provided +4 more	GBenign
Select item 262204	NM_182961.4(SYNE1):c.9651+47C>T	SYNE1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 130453	NM_182961.4(SYNE1):c.9495A>G (p.Glu3165=)	SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +4 more	GBenign
Select item 262202	NM_182961.4(SYNE1):c.9147-13G>A	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +3 more	GBenign
Select item 262201	NM_182961.4(SYNE1):c.8177+20A>T	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +3 more	GBenign
Select item 262200	NM_182961.4(SYNE1):c.7713-49G>A	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +4 more	GBenign
Select item 262198	NM_182961.4(SYNE1):c.7029+45T>C	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +4 more	GBenign
Select item 262196	NM_182961.4(SYNE1):c.3505-39A>C	SYNE1	Single nucleotide variant (intron variant)	not specified +4 more	GBenign
Select item 130438	NM_182961.4(SYNE1):c.3104T>C (p.Val1035Ala)	SYNE1 (V1035A +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +4 more	GBenign
Select item 262164	NM_182961.4(SYNE1):c.1463+24G>T	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +4 more	GBenign
Select item 262162	NM_182961.4(SYNE1):c.1351-24A>T	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +4 more	GBenign
Select item 130392	NM_182961.4(SYNE1):c.1047+4T>A	SYNE1	Single nucleotide variant (intron variant)	Autosomal recessive ataxia, Beauce type +4 more	GBenign
Select item 262161	NM_182961.4(SYNE1):c.130-25C>T	SYNE1	Single nucleotide variant (intron variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +4 more	GBenign

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Items: 31