"Eurofins Ntd Llc (ga)"[submitter] AND "LOC126859838"[gene] - ClinVar - NCBI

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Items: 11

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 500361	NM_182961.4(SYNE1):c.8652+6G>T	SYNE1, LOC126859838	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 284773	NM_182961.4(SYNE1):c.8625C>T (p.Ala2875=)	LOC126859838, SYNE1	Single nucleotide variant (synonymous variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GConflicting classifications of pathogenicity
Select item 283256	NM_182961.4(SYNE1):c.8606T>C (p.Met2869Thr)	LOC126859838, SYNE1 (M2869T +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 593710	NM_182961.4(SYNE1):c.8593C>T (p.Arg2865Trp)	LOC126859838, SYNE1 (R2865W +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 288610	NM_182961.4(SYNE1):c.8574A>G (p.Ser2858=)	LOC126859838, SYNE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 290252	NM_182961.4(SYNE1):c.8568C>G (p.Leu2856=)	LOC126859838, SYNE1	Single nucleotide variant (synonymous variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 286712	NM_182961.4(SYNE1):c.8557A>G (p.Thr2853Ala)	LOC126859838, SYNE1 (T2860A +1 more)	Single nucleotide variant (missense variant)	not specified +2 more	GConflicting classifications of pathogenicity
Select item 497580	NM_182961.4(SYNE1):c.8551G>A (p.Glu2851Lys)	LOC126859838, SYNE1 (E2851K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 285095	NM_182961.4(SYNE1):c.8546T>C (p.Val2849Ala)	LOC126859838, SYNE1 (V2849A +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 290552	NM_182961.4(SYNE1):c.8537T>C (p.Leu2846Ser)	SYNE1, LOC126859838 (L2853S +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 197983	NM_182961.4(SYNE1):c.8532G>A (p.Met2844Ile)	LOC126859838, SYNE1 (M2844I +1 more)	Single nucleotide variant (missense variant)	Emery-Dreifuss muscular dystrophy 4, autosomal dominant +2 more	GUncertain significance