ClinVar for Gene (Select 10841) - ClinVar - NCBI

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	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 3344312	NC_000021.9:g.46136371G>A	COL6A2, FTCD	Single nucleotide variant (3 prime UTR variant)	COL6A2-related disorder	GLikely benign
Select item 3341886	NM_206965.2(FTCD):c.360C>T (p.Asp120=)	FTCD	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3280127	NM_206965.2(FTCD):c.1433C>T (p.Ser478Leu)	FTCD (S478L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3280125	NM_206965.2(FTCD):c.292G>A (p.Gly98Ser)	FTCD (G98S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3280124	NM_206965.2(FTCD):c.71C>G (p.Ser24Cys)	FTCD (S24C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3280123	NM_206965.2(FTCD):c.199C>T (p.Arg67Trp)	FTCD (R67W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3280122	NM_206965.2(FTCD):c.967G>C (p.Glu323Gln)	FTCD (E323Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3280121	NM_206965.2(FTCD):c.1370C>T (p.Thr457Met)	FTCD (T457M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3248207	NC_000021.8:g.(?_44296792)_(47865240_?)del	ADARB1, AGPAT3 +60 more	Deletion	not provided	GPathogenic
Select item 3248201	NC_000021.8:g.(?_45647421)_(47865240_?)dup	ADARB1, AIRE +44 more	Duplication	not provided	GUncertain significance
Select item 3248173	NC_000021.8:g.(?_47552332)_(47557196_?)del	COL6A2, FTCD	Deletion	Bethlem myopathy 1A	GPathogenic
Select item 3248169	NC_000021.8:g.(?_47551848)_(47575437_?)dup	COL6A2, FTCD	Duplication	Bethlem myopathy 1A	GUncertain significance
Select item 3248148	NC_000021.8:g.(?_47565311)_(47575437_?)del	FTCD	Deletion	Glutamate formiminotransferase deficiency	GPathogenic
Select item 3242283	GRCh37/hg19 21q11.2-22.3(chr21:15380398-48100790)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not provided	GPathogenic
Select item 3148842	GRCh37/hg19 21q22.3(chr21:45726806-48093361)x1	KRTAP10-4, KRTAP10-2 +44 more	Copy number loss	not provided	GUncertain significance
Select item 3097381	NM_206965.2(FTCD):c.92C>T (p.Pro31Leu)	FTCD (P31L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097380	NM_206965.2(FTCD):c.328G>A (p.Ala110Thr)	FTCD (A110T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097379	NM_206965.2(FTCD):c.1430G>A (p.Arg477Gln)	FTCD (R477Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097378	NM_206965.2(FTCD):c.1205C>T (p.Ser402Leu)	FTCD (S402L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097377	NM_206965.2(FTCD):c.1091C>G (p.Ala364Gly)	FTCD (A364G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097376	NM_206965.2(FTCD):c.1067G>T (p.Gly356Val)	FTCD (G356V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3097375	NM_206965.2(FTCD):c.1003C>G (p.Leu335Val)	FTCD (L335V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3067790	NM_206965.2(FTCD):c.1255T>A (p.Tyr419Asn)	FTCD (Y419N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3062431	GRCh37/hg19 21q11.2-22.3(chr21:15023401-48097372)x3	ABCG1, ADAMTS1 +216 more	Copy number gain	not specified	GPathogenic
Select item 3062430	GRCh37/hg19 21q22.3(chr21:44577746-48097372)x1	KRTAP10-7, KRTAP10-8 +58 more	Copy number loss	not specified	GPathogenic
Select item 3062429	GRCh37/hg19 21q22.11-22.3(chr21:34092685-48097372)x3	CBR1, CBR3 +139 more	Copy number gain	not specified	GPathogenic
Select item 3062428	GRCh37/hg19 21q22.12-22.3(chr21:35872675-48097372)x1	KCNJ15, KCNJ6 +118 more	Copy number loss	not specified	GPathogenic
Select item 3062427	GRCh37/hg19 21q22.3(chr21:45102309-48097372)x1	DNMT3L, SLX9 +55 more	Copy number loss	not specified	GPathogenic
Select item 3062426	GRCh37/hg19 21q22.3(chr21:43369956-48097372)x1	DNMT3L, PRMT2 +75 more	Copy number loss	not specified	GPathogenic
Select item 3062423	GRCh37/hg19 21q21.3-22.3(chr21:26929299-48097372)x3	ABCG1, ADAMTS1 +201 more	Copy number gain	not specified	GPathogenic
Select item 3062421	GRCh37/hg19 21q22.3(chr21:43603041-48097372)x1	COL18A1, S100B +72 more	Copy number loss	not specified	GPathogenic
Select item 3062420	GRCh37/hg19 21q21.3-22.3(chr21:30685776-48097372)x3	ABCG1, ADARB1 +186 more	Copy number gain	not specified	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 3044234	NM_206965.2(FTCD):c.153C>T (p.Phe51=)	FTCD	Single nucleotide variant (synonymous variant)	FTCD-related disorder	GLikely benign
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 3042160	NM_206965.2(FTCD):c.367+10C>G	FTCD	Single nucleotide variant (intron variant)	FTCD-related disorder	GLikely benign
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 3030366	NC_000021.9:g.46151553del	FTCD, FTCD-AS1	Deletion (intron variant)	FTCD-AS1-related disorder	GLikely benign
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 2685664	GRCh37/hg19 21q22.2-22.3(chr21:40681179-48097372)x1	ABCG1, ADARB1 +92 more	Copy number loss	not provided	GPathogenic
Select item 2684917	GRCh37/hg19 21q22.3(chr21:43687354-48097372)x3	ABCG1, ADARB1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 2684914	GRCh37/hg19 21q22.11-22.3(chr21:33015681-48097372)x3	ABCG1, ADARB1 +148 more	Copy number gain	not provided	GPathogenic
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 2652807	NM_206965.2(FTCD):c.774+5G>T	FTCD	Single nucleotide variant (intron variant)	not provided	GUncertain significance
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 2602907	NM_206965.2(FTCD):c.1492G>A (p.Val498Met)	FTCD (V498M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2594366	NM_206965.2(FTCD):c.1408C>T (p.Arg470Trp)	FTCD (R470W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2579517	NM_206965.2(FTCD):c.184del (p.Ala62fs)	FTCD (A62fs)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 2573553	NM_206965.2(FTCD):c.1537dup (p.Gln513fs)	FTCD (Q513fs)	Duplication (frameshift variant)	not specified	GUncertain significance
Select item 2573552	NM_206965.2(FTCD):c.1373_1375del (p.Val458del)	FTCD (V458del)	Deletion (inframe_deletion)	not specified	GUncertain significance
Select item 2560200	NM_206965.2(FTCD):c.172G>T (p.Val58Leu)	FTCD (V58L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2557111	NM_206965.2(FTCD):c.1145G>A (p.Arg382His)	FTCD (R382H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538324	NM_206965.2(FTCD):c.1498A>G (p.Ile500Val)	FTCD (I500V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538246	NM_206965.2(FTCD):c.1462G>A (p.Glu488Lys)	FTCD (E488K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2537520	NM_206965.2(FTCD):c.136C>T (p.Arg46Cys)	FTCD (R46C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2534017	NM_206965.2(FTCD):c.595A>G (p.Ile199Val)	FTCD (I199V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2532601	NM_206965.2(FTCD):c.1543C>T (p.His515Tyr)	FTCD (H515Y)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	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 2512761	NM_206965.2(FTCD):c.644G>A (p.Arg215His)	FTCD (R215H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2503262	NM_206965.2(FTCD):c.*7G>A	FTCD (R538Q)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 2474405	NM_206965.2(FTCD):c.308A>T (p.Glu103Val)	FTCD (E103V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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

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