Related gene-specific medical variations for Gene (Select 10841) - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3359792	NM_206965.2(FTCD):c.262C>G (p.Leu88Val)	FTCD (L88V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359482	NM_206965.2(FTCD):c.439G>C (p.Glu147Gln)	FTCD (E147Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359481	NM_206965.2(FTCD):c.1082C>T (p.Ala361Val)	FTCD (A361V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248148	NC_000021.8:g.(?_47565311)_(47575437_?)del	FTCD	Deletion	Glutamate formiminotransferase deficiency	GPathogenic
Select item 3047787	NR_170989.1(FTCD-AS1):n.71A>G	FTCD, FTCD-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	FTCD-AS1-related disorder	GLikely benign
Select item 2992522	NM_206965.2(FTCD):c.418G>C (p.Ala140Pro)	FTCD, FTCD-AS1 (A140P)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2896811	NM_206965.2(FTCD):c.528G>A (p.Thr176=)	FTCD, FTCD-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2893105	NM_206965.2(FTCD):c.456+17C>T	FTCD, FTCD-AS1	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2800589	NM_206965.2(FTCD):c.372C>G (p.Tyr124Ter)	FTCD, FTCD-AS1 (Y124*)	Single nucleotide variant (nonsense)	Glutamate formiminotransferase deficiency	GPathogenic
Select item 2767561	NM_206965.2(FTCD):c.471C>T (p.Asp157=)	FTCD, FTCD-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2705008	NM_206965.2(FTCD):c.456+14G>A	FTCD, FTCD-AS1	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2413591	NM_206965.2(FTCD):c.468C>T (p.Ala156=)	FTCD, FTCD-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2384296	NM_206965.2(FTCD):c.541T>G (p.Phe181Val)	FTCD, FTCD-AS1 (F181V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2357146	NM_206965.2(FTCD):c.470A>T (p.Asp157Val)	FTCD, FTCD-AS1 (D157V)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2200285	NM_206965.2(FTCD):c.368-14G>A	FTCD, FTCD-AS1	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1957046	NM_206965.2(FTCD):c.368-15C>T	FTCD, FTCD-AS1	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GBenign
Select item 1654488	NM_206965.2(FTCD):c.456+10C>G	FTCD, FTCD-AS1	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GBenign
Select item 1644021	NM_206965.2(FTCD):c.457-16G>A	FTCD, FTCD-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Glutamate formiminotransferase deficiency	GBenign
Select item 1621407	NM_206965.2(FTCD):c.534G>A (p.Ala178=)	FTCD, FTCD-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1608083	NM_206965.2(FTCD):c.368-17G>A	FTCD-AS1, FTCD	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1601565	NM_206965.2(FTCD):c.477G>A (p.Ala159=)	FTCD, FTCD-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Glutamate formiminotransferase deficiency	GBenign
Select item 1600618	NM_206965.2(FTCD):c.457-14G>A	FTCD, FTCD-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Glutamate formiminotransferase deficiency	GBenign
Select item 1548650	NM_206965.2(FTCD):c.456+13C>T	FTCD, FTCD-AS1	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1385667	NM_206965.2(FTCD):c.571G>A (p.Gly191Ser)	FTCD, FTCD-AS1 (G191S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 998469	NM_206965.2(FTCD):c.532G>T (p.Ala178Ser)	FTCD-AS1, FTCD (A178S)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency +1 more	GUncertain significance
Select item 975238	NM_206965.2(FTCD):c.379G>A (p.Gly127Ser)	FTCD, FTCD-AS1 (G127S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 962892	NM_206965.2(FTCD):c.530G>A (p.Gly177Glu)	FTCD, FTCD-AS1 (G177E)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 962891	NM_206965.2(FTCD):c.521C>T (p.Thr174Met)	FTCD, FTCD-AS1 (T174M)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 780197	NM_206965.2(FTCD):c.469G>T (p.Asp157Tyr)	FTCD, FTCD-AS1 (D157Y)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 706116	NM_206965.2(FTCD):c.438C>T (p.Tyr146=)	FTCD, FTCD-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 657170	NM_206965.2(FTCD):c.469G>A (p.Asp157Asn)	FTCD, FTCD-AS1 (D157N)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 593814	NM_206965.2(FTCD):c.424C>T (p.Arg142Trp)	FTCD, FTCD-AS1 (R142W)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 529458	NM_206965.2(FTCD):c.425G>A (p.Arg142Gln)	FTCD, FTCD-AS1 (R142Q)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 459968	NM_206965.2(FTCD):c.439G>A (p.Glu147Lys)	FTCD, FTCD-AS1 (E147K)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 459967	NM_206965.2(FTCD):c.378C>G (p.Tyr126Ter)	FTCD, FTCD-AS1 (Y126*)	Single nucleotide variant (nonsense)	Glutamate formiminotransferase deficiency	GPathogenic
Select item 340438	NM_206965.2(FTCD):c.378C>T (p.Tyr126=)	FTCD, FTCD-AS1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign
Select item 340437	NM_206965.2(FTCD):c.382G>A (p.Glu128Lys)	FTCD, FTCD-AS1 (E128K)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GBenign
Select item 340436	NM_206965.2(FTCD):c.407G>A (p.Arg136Gln)	FTCD, FTCD-AS1 (R136Q)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency +1 more	GBenign/Likely benign
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
Select item 282697	NM_206965.2(FTCD):c.452A>T (p.Lys151Met)	FTCD, FTCD-AS1 (K151M)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 282696	NM_206965.2(FTCD):c.430G>A (p.Gly144Arg)	FTCD, FTCD-AS1 (G144R)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 95426	NM_206965.2(FTCD):c.417G>A (p.Pro139=)	FTCD-AS1, FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency +2 more	GBenign
Select item 4017	NM_206965.2(FTCD):c.403C>T (p.Arg135Cys)	FTCD, FTCD-AS1 (R135C)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance

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Links from Gene

Items: 43