"FTCD-related disorder"[Disease/phenotype] AND "PreventionGenetics, pa - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 340410	NM_006657.3(FTCD):c.*15C>A	FTCD, COL6A2 (T564K)	Single nucleotide variant (missense variant +1 more)	Myosclerosis +3 more	GConflicting classifications of pathogenicity
Select item 3038708	NM_206965.2(FTCD):c.*80C>G	FTCD	Single nucleotide variant (3 prime UTR variant +1 more)	FTCD-related disorder	GLikely benign
Select item 340414	NM_206965.2(FTCD):c.1470C>T (p.Gly490=)	COL6A2, FTCD	Single nucleotide variant (synonymous variant)	Myosclerosis +3 more	GBenign
Select item 1134066	NM_206965.2(FTCD):c.999A>C (p.Arg333=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency +1 more	GLikely benign
Select item 2632941	NM_206965.2(FTCD):c.997C>T (p.Arg333Ter)	FTCD (R333*)	Single nucleotide variant (nonsense)	FTCD-related disorder	GLikely pathogenic
Select item 4019	NM_206965.2(FTCD):c.990dup (p.Pro331fs)	FTCD (P331fs)	Duplication (frameshift variant)	Inborn genetic diseases +3 more	GConflicting classifications of pathogenicity
Select item 3042868	NM_206965.2(FTCD):c.732G>A (p.Thr244=)	FTCD	Single nucleotide variant (synonymous variant)	FTCD-related disorder	GLikely benign
Select item 340429	NM_206965.2(FTCD):c.643C>T (p.Arg215Cys)	FTCD (R215C)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency +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
Select item 3042160	NM_206965.2(FTCD):c.367+10C>G	FTCD	Single nucleotide variant (intron variant)	FTCD-related disorder	GLikely benign
Select item 340441	NM_206965.2(FTCD):c.301G>A (p.Val101Met)	FTCD (V101M)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign
Select item 488890	NM_206965.2(FTCD):c.211C>T (p.Arg71Ter)	FTCD (R71*)	Single nucleotide variant (nonsense)	Glutamate formiminotransferase deficiency +2 more	GPathogenic/Likely pathogenic
Select item 1970391	NM_206965.2(FTCD):c.171C>T (p.Cys57=)	FTCD	Single nucleotide variant (synonymous variant)	FTCD-related disorder +1 more	GLikely benign
Select item 3044234	NM_206965.2(FTCD):c.153C>T (p.Phe51=)	FTCD	Single nucleotide variant (synonymous variant)	FTCD-related disorder	GLikely benign
Select item 704616	NM_206965.2(FTCD):c.141C>T (p.Thr47=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency +1 more	GLikely benign
Select item 1587792	NM_206965.2(FTCD):c.117C>T (p.Asp39=)	FTCD	Single nucleotide variant (synonymous variant)	FTCD-related disorder +1 more	GLikely benign