"GeneDx"[submitter] AND "LOC129997480"[gene] - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2657012	NM_182961.4(SYNE1):c.17539A>G (p.Met5847Val)	LOC129997480, SYNE1 (M5776V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 290203	NM_182961.4(SYNE1):c.17533G>A (p.Val5845Met)	LOC129997480, SYNE1 (V5845M +1 more)	Single nucleotide variant (missense variant)	SYNE1-related disorder +1 more	GUncertain significance
Select item 199219	NM_182961.4(SYNE1):c.17505C>T (p.Leu5835=)	SYNE1, LOC129997480	Single nucleotide variant (synonymous variant)	not specified +3 more	GConflicting classifications of pathogenicity
Select item 283143	NM_182961.4(SYNE1):c.17483C>G (p.Thr5828Arg)	SYNE1, LOC129997480 (T5757R +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +3 more	GConflicting classifications of pathogenicity
Select item 1010450	NM_182961.4(SYNE1):c.17464G>C (p.Glu5822Gln)	LOC129997480, SYNE1 (E5751Q +1 more)	Single nucleotide variant (missense variant)	Autosomal recessive ataxia, Beauce type +2 more	GUncertain significance
Select item 512392	NM_182961.4(SYNE1):c.17451G>A (p.Thr5817=)	LOC129997480, SYNE1	Single nucleotide variant (synonymous variant)	Autosomal recessive ataxia, Beauce type +2 more	GLikely benign
Select item 130413	NM_182961.4(SYNE1):c.17418G>A (p.Thr5806=)	LOC129997480, SYNE1	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign/Likely benign
Select item 510611	NM_182961.4(SYNE1):c.17347-6C>T	LOC129997480, SYNE1	Single nucleotide variant (intron variant)	not provided +4 more	GConflicting classifications of pathogenicity
Select item 384431	NM_182961.4(SYNE1):c.17347-16G>C	SYNE1, LOC129997480	Single nucleotide variant (intron variant)	not specified +2 more	GLikely benign