ClinVar for MedGen (Select 82823) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3248148	NC_000021.8:g.(?_47565311)_(47575437_?)del	FTCD	Deletion	Glutamate formiminotransferase deficiency	GPathogenic
Select item 3014797	NM_206965.2(FTCD):c.54+14A>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 3013863	NM_206965.2(FTCD):c.1234G>A (p.Asp412Asn)	FTCD (D412N)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 3010510	NM_206965.2(FTCD):c.1138G>A (p.Gly380Arg)	FTCD (G380R)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
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 2983433	NM_206965.2(FTCD):c.55-14G>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2977689	NM_206965.2(FTCD):c.54+10G>A	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2954983	NM_206965.2(FTCD):c.1574C>T (p.Ala525Val)	FTCD (A525V)	Single nucleotide variant (synonymous variant +1 more)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2911933	NM_206965.2(FTCD):c.1068_1098+24del	FTCD	Deletion (splice donor variant)	Glutamate formiminotransferase deficiency	GLikely pathogenic
Select item 2908493	NM_206965.2(FTCD):c.637-14C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2905256	NM_206965.2(FTCD):c.774+9G>A	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
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 2894354	NM_206965.2(FTCD):c.1097T>C (p.Met366Thr)	FTCD (M366T)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2893425	NM_206965.2(FTCD):c.367+16C>T	FTCD	Single nucleotide variant (intron variant)	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 2882399	NM_206965.2(FTCD):c.1540-6C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2864903	NM_206965.2(FTCD):c.1443+17del	FTCD	Deletion (intron variant)	Glutamate formiminotransferase deficiency	GBenign
Select item 2831356	NM_206965.2(FTCD):c.367+18C>G	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2809033	NM_206965.2(FTCD):c.654A>G (p.Lys218=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2806923	NM_206965.2(FTCD):c.1563C>T (p.Leu521=)	FTCD (P515S)	Single nucleotide variant (missense variant +1 more)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2803741	NM_206965.2(FTCD):c.367+17del	FTCD	Deletion (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 2792905	NM_206965.2(FTCD):c.1261-1G>A	FTCD	Single nucleotide variant (splice acceptor variant)	Glutamate formiminotransferase deficiency	GLikely pathogenic
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 2753875	NM_206965.2(FTCD):c.1261-18T>A	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2740715	NM_206965.2(FTCD):c.54+9C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2737933	NM_206965.2(FTCD):c.219C>T (p.Ile73=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2737009	NM_206965.2(FTCD):c.266A>G (p.Asp89Gly)	FTCD (D89G)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2725137	NM_206965.2(FTCD):c.1098+20C>A	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2723229	NM_206965.2(FTCD):c.1287A>C (p.Thr429=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GBenign
Select item 2721828	NM_206965.2(FTCD):c.220G>A (p.Asp74Asn)	FTCD (D74N)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2718949	NM_206965.2(FTCD):c.1497C>T (p.Leu499=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2705862	NM_206965.2(FTCD):c.1302C>T (p.Asp434=)	FTCD	Single nucleotide variant (synonymous variant)	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 2696761	NM_206965.2(FTCD):c.1608G>A (p.Leu536=)	FTCD (G530R)	Single nucleotide variant (missense variant +1 more)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2696654	NM_206965.2(FTCD):c.367+11C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2652808	NM_206965.2(FTCD):c.597C>T (p.Ile199=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency +1 more	GLikely benign
Select item 2596224	NM_206965.2(FTCD):c.140C>G (p.Thr47Ser)	FTCD (T47S)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency +1 more	GUncertain significance
Select item 2513721	NM_206965.2(FTCD):c.49C>A (p.Gln17Lys)	FTCD (Q17K)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2468884	NM_206965.2(FTCD):c.322G>A (p.Ala108Thr)	FTCD (A108T)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency +1 more	GUncertain significance
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 2201281	NM_206965.2(FTCD):c.775-20C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	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 2200279	NM_206965.2(FTCD):c.250C>T (p.Arg84Cys)	FTCD (R84C)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2196296	NM_206965.2(FTCD):c.1252G>A (p.Ala418Thr)	FTCD (A418T)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2177392	NM_206965.2(FTCD):c.1591C>A (p.Leu531Met)	FTCD (T524N +1 more)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2172899	NM_206965.2(FTCD):c.239-12G>A	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2159551	NM_206965.2(FTCD):c.610C>T (p.Arg204Trp)	FTCD (R204W)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2153834	NM_206965.2(FTCD):c.1389G>A (p.Pro463=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2147993	NM_206965.2(FTCD):c.987C>G (p.Arg329=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2142288	NM_206965.2(FTCD):c.1078G>A (p.Ala360Thr)	FTCD (A360T)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2139974	NM_206965.2(FTCD):c.64G>A (p.Ala22Thr)	FTCD (A22T)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2139162	NM_206965.2(FTCD):c.176T>G (p.Val59Gly)	FTCD (V59G)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2083931	NM_206965.2(FTCD):c.55-16C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2083197	NM_206965.2(FTCD):c.712C>A (p.Leu238Ile)	FTCD (L238I)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2079073	NM_206965.2(FTCD):c.1076T>G (p.Val359Gly)	FTCD (V359G)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2072834	NM_206965.2(FTCD):c.285C>T (p.Pro95=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2069773	NM_206965.2(FTCD):c.600G>A (p.Ala200=)	FTCD, FTCD-AS1	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2044555	NM_206965.2(FTCD):c.367+6C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2040164	NM_206965.2(FTCD):c.60C>T (p.Ile20=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 2039791	NM_206965.2(FTCD):c.1522G>A (p.Glu508Lys)	FTCD (E508K)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 2011065	NM_206965.2(FTCD):c.1002C>G (p.Gly334=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1970391	NM_206965.2(FTCD):c.171C>T (p.Cys57=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1958514	NM_206965.2(FTCD):c.1514T>C (p.Ile505Thr)	FTCD (I505T)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
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 1957014	NM_206965.2(FTCD):c.1465A>T (p.Met489Leu)	FTCD (M489L)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 1954086	NM_206965.2(FTCD):c.151T>G (p.Phe51Val)	FTCD (F51V)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 1919848	NM_206965.2(FTCD):c.636+5C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 1911821	NM_206965.2(FTCD):c.774+7C>G	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1908733	NM_206965.2(FTCD):c.661G>A (p.Gly221Ser)	FTCD (G221S)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 1678565	NM_206965.2(FTCD):c.1103C>T (p.Ala368Val)	FTCD (A368V)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GUncertain significance
Select item 1674773	NM_206965.2(FTCD):c.1098+18_1098+19insGGGCGCTGTTGGGGGGAGGGCGGGGAG	FTCD	Microsatellite (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
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 1635904	NM_206965.2(FTCD):c.624C>T (p.Arg208=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1627789	NM_206965.2(FTCD):c.1007G>T (p.Gly336Val)	FTCD (G336V)	Single nucleotide variant (missense variant)	Glutamate formiminotransferase deficiency	GLikely benign
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 1621085	NM_206965.2(FTCD):c.1194C>T (p.Phe398=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1618095	NM_206965.2(FTCD):c.367+16dup	FTCD	Duplication (intron variant)	Glutamate formiminotransferase deficiency	GBenign
Select item 1616496	NM_206965.2(FTCD):c.198C>T (p.Ala66=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1608493	NM_206965.2(FTCD):c.1261-8T>C	FTCD	Single nucleotide variant (intron variant)	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 1602331	NM_206965.2(FTCD):c.1304+16C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
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 1600705	NM_206965.2(FTCD):c.1099-20dup	FTCD	Duplication (intron variant)	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 1597098	NM_206965.2(FTCD):c.138C>T (p.Arg46=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1593293	NM_206965.2(FTCD):c.1305-15T>C	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1592104	NM_206965.2(FTCD):c.774+18C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1589554	NM_206965.2(FTCD):c.1539+16G>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1587792	NM_206965.2(FTCD):c.117C>T (p.Asp39=)	FTCD	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 1585096	NM_206965.2(FTCD):c.1304+20C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1574614	NM_206965.2(FTCD):c.239-13C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GBenign
Select item 1574294	NM_206965.2(FTCD):c.238+13G>A	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1569520	NM_206965.2(FTCD):c.239-16C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GBenign
Select item 1557249	NM_206965.2(FTCD):c.1305-17C>T	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
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 1548021	NM_206965.2(FTCD):c.774+19G>A	FTCD	Single nucleotide variant (intron variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1544976	NM_206965.2(FTCD):c.249C>A (p.Pro83=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign
Select item 1532335	NM_206965.2(FTCD):c.1371G>A (p.Thr457=)	FTCD	Single nucleotide variant (synonymous variant)	Glutamate formiminotransferase deficiency	GLikely benign

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