"PreventionGenetics, part of Exact Sciences"[submitter] AND "FTCD-AS1" - ClinVar

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3030366	NM_206965.2(FTCD):c.636+8del	FTCD, FTCD-AS1	Deletion (intron variant)	FTCD-AS1-related disorder	GLikely benign
Select item 1306230	NM_206965.2(FTCD):c.623G>A (p.Arg208His)	FTCD, FTCD-AS1 (R208H)	Single nucleotide variant (missense variant)	FTCD-AS1-related disorder +2 more	GConflicting classifications of pathogenicity
Select item 2069773	NM_206965.2(FTCD):c.600G>A (p.Ala200=)	FTCD-AS1, FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency +1 more	GLikely benign
Select item 3047787	NM_206965.2(FTCD):c.510T>C (p.Ser170=)	FTCD, FTCD-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	FTCD-AS1-related disorder	GLikely benign
Select item 780197	NM_206965.2(FTCD):c.469G>T (p.Asp157Tyr)	FTCD-AS1, FTCD (D157Y)	Single nucleotide variant (missense variant)	FTCD-AS1-related disorder +1 more	GLikely benign
Select item 95426	NM_206965.2(FTCD):c.417G>A (p.Pro139=)	FTCD, FTCD-AS1	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 340437	NM_206965.2(FTCD):c.382G>A (p.Glu128Lys)	FTCD, FTCD-AS1 (E128K)	Single nucleotide variant (missense variant)	FTCD-related disorder +1 more	GBenign/Likely benign

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