"SYCE1-related disorder"[Disease/phenotype] AND "PreventionGenetics, p - ClinVar - NCBI

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Items: 5

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3045823	NM_130784.4(SYCE1):c.811-4A>G	SYCE1	Single nucleotide variant (intron variant)	SYCE1-related disorder	GLikely benign
Select item 3058598	NM_001143764.3(SYCE1):c.1005C>T (p.Leu335=)	SYCE1	Single nucleotide variant (synonymous variant +1 more)	SYCE1-related disorder	GLikely benign
Select item 3058525	NM_001143764.3(SYCE1):c.528C>T (p.His176=)	SYCE1	Single nucleotide variant (synonymous variant)	SYCE1-related disorder	GLikely benign
Select item 3044501	NM_001143764.3(SYCE1):c.374+8C>G	SYCE1	Single nucleotide variant (intron variant)	SYCE1-related disorder	GLikely benign
Select item 3057568	NM_001143764.3(SYCE1):c.320-10C>T	SYCE1	Single nucleotide variant (intron variant)	SYCE1-related disorder	GLikely benign

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