"Eurofins Ntd Llc (ga)"[submitter] AND "SYNE1-AS1"[gene] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 283674	NM_182961.4(SYNE1):c.8973G>A (p.Thr2991=)	SYNE1, SYNE1-AS1	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 284631	NM_182961.4(SYNE1):c.8972C>T (p.Thr2991Met)	SYNE1, SYNE1-AS1 (T2991M +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 593546	NM_182961.4(SYNE1):c.8934C>T (p.Thr2978=)	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 501559	NM_182961.4(SYNE1):c.8890C>T (p.Gln2964Ter)	SYNE1, SYNE1-AS1 (Q2964* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 284818	NM_182961.4(SYNE1):c.8866C>T (p.Gln2956Ter)	SYNE1, SYNE1-AS1 (Q2963* +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GPathogenic
Select item 501304	NM_182961.4(SYNE1):c.8861C>T (p.Ser2954Leu)	SYNE1, SYNE1-AS1 (S2954L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 284811	NM_182961.4(SYNE1):c.8839C>G (p.Leu2947Val)	SYNE1, SYNE1-AS1 (L2947V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 282481	NM_182961.4(SYNE1):c.8828G>A (p.Cys2943Tyr)	SYNE1-AS1, SYNE1 (C2943Y +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 500931	NM_182961.4(SYNE1):c.8812T>C (p.Phe2938Leu)	SYNE1, SYNE1-AS1 (F2938L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance
Select item 289370	NM_182961.4(SYNE1):c.8785G>A (p.Asp2929Asn)	SYNE1, SYNE1-AS1 (D2929N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 283665	NM_182961.4(SYNE1):c.8780G>A (p.Arg2927His)	SYNE1, SYNE1-AS1 (R2934H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 499007	NM_182961.4(SYNE1):c.8779C>G (p.Arg2927Gly)	SYNE1, SYNE1-AS1 (R2927G +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 594973	NM_182961.4(SYNE1):c.8748T>C (p.Cys2916=)	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 286263	NM_182961.4(SYNE1):c.8745G>A (p.Gly2915=)	SYNE1, SYNE1-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 597164	NM_182961.4(SYNE1):c.8741G>A (p.Ser2914Asn)	SYNE1-AS1, SYNE1 (S2914N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 286224	NM_182961.4(SYNE1):c.8737G>T (p.Ala2913Ser)	SYNE1, SYNE1-AS1 (A2913S +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +2 more	GUncertain significance
Select item 290730	NM_182961.4(SYNE1):c.8728A>G (p.Asn2910Asp)	SYNE1, SYNE1-AS1 (N2910D +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 498062	NM_182961.4(SYNE1):c.8687G>A (p.Arg2896His)	SYNE1, SYNE1-AS1 (R2896H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 290492	NM_182961.4(SYNE1):c.8659A>C (p.Ile2887Leu)	SYNE1, SYNE1-AS1 (I2894L +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance