"Illumina Laboratory Services, Illumina"[submitter] AND "FTCD"[gene] - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 128814	NM_001849.4(COL6A2):c.2592G>A (p.Thr864=)	COL6A2, FTCD	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 93944	NM_001849.4(COL6A2):c.2697G>T (p.Thr899=)	COL6A2, FTCD	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign/Likely benign
Select item 93945	NM_001849.4(COL6A2):c.2724A>G (p.Thr908=)	COL6A2, FTCD	Single nucleotide variant (synonymous variant)	not specified +5 more	GBenign
Select item 93948	NM_001849.4(COL6A2):c.2803G>A (p.Gly935Arg)	COL6A2, FTCD	Single nucleotide variant (missense variant)	not provided +5 more	GBenign/Likely benign
Select item 93950	NM_001849.4(COL6A2):c.2979C>T (p.Arg993=)	COL6A2, FTCD	Single nucleotide variant (synonymous variant)	not specified +4 more	GBenign/Likely benign
Select item 128815	NM_001849.4(COL6A2):c.2980G>A (p.Ala994Thr)	COL6A2, FTCD (A994T)	Single nucleotide variant (missense variant)	Bethlem myopathy 1A +5 more	GBenign/Likely benign
Select item 93952	NM_001849.4(COL6A2):c.3043A>C (p.Ile1015Leu)	COL6A2, FTCD	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency +5 more	GBenign/Likely benign
Select item 340393	NM_001849.4(COL6A2):c.*61G>A	COL6A2, FTCD	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 340398	NM_001849.4(COL6A2):c.*116T>C	COL6A2, FTCD	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 340399	NM_001849.4(COL6A2):c.*119A>G	COL6A2, FTCD	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign/Likely benign
Select item 340403	NM_001849.4(COL6A2):c.*158C>T	FTCD, COL6A2	Single nucleotide variant (3 prime UTR variant)	not provided +3 more	GBenign
Select item 340405	NM_006657.3(FTCD):c.*127C>A	FTCD, COL6A2	Single nucleotide variant (3 prime UTR variant)	Glutamate formiminotransferase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 340407	NM_006657.3(FTCD):c.*113C>T	FTCD	Single nucleotide variant (3 prime UTR variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 340408	NM_006657.3(FTCD):c.*67C>T	COL6A2, FTCD	Single nucleotide variant (3 prime UTR variant)	Glutamate formiminotransferase deficiency +2 more	GConflicting classifications of pathogenicity
Select item 340410	NM_006657.3(FTCD):c.*15C>A	COL6A2, FTCD (T564K)	Single nucleotide variant (missense variant +1 more)	Glutamate formiminotransferase deficiency +3 more	GConflicting classifications of pathogenicity
Select item 340411	NM_206965.2(FTCD):c.*1C>T	FTCD (T536M)	Single nucleotide variant (missense variant +1 more)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 340413	NM_206965.2(FTCD):c.1540-17_1540-16del	COL6A2, FTCD	Deletion (intron variant)	Collagen 6-related myopathy +2 more	GConflicting classifications of pathogenicity
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 340415	NM_206965.2(FTCD):c.1443+9del	FTCD	Deletion (intron variant)	Glutamate formiminotransferase deficiency	GBenign/Likely benign
Select item 631883	NM_206965.2(FTCD):c.1291del (p.Glu431fs)	FTCD (E431fs)	Deletion (frameshift variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 631884	NM_206965.2(FTCD):c.997del (p.Arg333fs)	FTCD (R333fs)	Deletion (frameshift variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 631885	NM_206965.2(FTCD):c.766_767del (p.Glu256fs)	FTCD (E256fs)	Microsatellite (frameshift variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 340435	NM_206965.2(FTCD):c.476C>T (p.Ala159Val)	FTCD, FTCD-AS1 (A159V)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance

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Items: 23