ClinVar for Gene (Select 197322) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3366392	NC_000016.9:g.(89165172_89167069)_(89187322_89199543)dup	ACSF3	Duplication	not specified	GUncertain significance
Select item 3353002	NM_001243279.3(ACSF3):c.978-5C>A	ACSF3, LOC125177393	Single nucleotide variant (intron variant)	ACSF3-related disorder	GUncertain significance
Select item 3352562	NM_001243279.3(ACSF3):c.*3C>G	ACSF3	Single nucleotide variant (3 prime UTR variant +1 more)	ACSF3-related disorder	GLikely benign
Select item 3338235	NM_001243279.3(ACSF3):c.1239+1351C>A	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GBenign
Select item 3262783	NM_001243279.3(ACSF3):c.1426A>G (p.Ile476Val)	ACSF3 (I211V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262775	NM_001243279.3(ACSF3):c.1658T>C (p.Val553Ala)	ACSF3 (V288A +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262770	NM_001243279.3(ACSF3):c.985G>A (p.Val329Ile)	ACSF3, LOC125177393 (V329I +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262761	NM_001243279.3(ACSF3):c.1015G>A (p.Val339Met)	ACSF3, LOC125177393 (V74M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3262747	NM_001243279.3(ACSF3):c.1294G>A (p.Val432Met)	ACSF3 (V432M +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3243662	NC_000016.9:g.(?_88851289)_(89383486_?)del	ACSF3, ANKRD11 +10 more	Deletion	not provided	GPathogenic
Select item 3243507	NC_000016.9:g.(?_89167111)_(89178323_?)del	ACSF3	Deletion	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 3243506	NC_000016.9:g.(?_89211655)_(89212477_?)del	ACSF3	Deletion	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 3243504	NC_000016.9:g.(?_89180727)_(89199690_?)del	ACSF3	Deletion	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 3243503	NC_000016.9:g.(?_89167090)_(89187341_?)del	ACSF3	Deletion	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 3243502	NC_000016.9:g.(?_89167090)_(89212477_?)del	ACSF3	Deletion	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 3243329	NC_000016.9:g.(?_88717344)_(90106937_?)dup	ACSF3, ANKRD11 +36 more	Duplication	KBG syndrome	GUncertain significance
Select item 3243328	NC_000016.9:g.(?_87921735)_(89484776_?)del	ZNF469, ZNF778 +21 more	Deletion	KBG syndrome	GPathogenic
Select item 3242307	GRCh37/hg19 16q23.3-24.3(chr16:82865402-90163542)x3	ACSF3, ADAD2 +87 more	Copy number gain	not provided	GPathogenic
Select item 3242005	NM_001243279.3(ACSF3):c.83G>A (p.Gly28Glu)	ACSF3 (G28E)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 3241007	NM_001243279.3(ACSF3):c.1234del (p.Thr412fs)	ACSF3 (T147fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 3241005	NM_001243279.3(ACSF3):c.1192del (p.Ala398fs)	ACSF3 (A133fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 3241001	NM_001243279.3(ACSF3):c.1448dup (p.Val484fs)	ACSF3 (V219fs +1 more)	Duplication (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 3240996	NM_001243279.3(ACSF3):c.1333_1334del (p.Ser445fs)	ACSF3 (S180fs +1 more)	Microsatellite (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 3240989	NM_001243279.3(ACSF3):c.696G>A (p.Trp232Ter)	ACSF3 (W232*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 3240971	NM_001243279.3(ACSF3):c.1382_1383del (p.Val460_Phe461insTer)	ACSF3	Deletion (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 3240967	NM_001243279.3(ACSF3):c.1367-2A>C	ACSF3	Single nucleotide variant (non-coding transcript variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 3240966	NM_001243279.3(ACSF3):c.516_522del (p.Ala173fs)	ACSF3 (A173fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 3240965	NM_001243279.3(ACSF3):c.1632C>G (p.Tyr544Ter)	ACSF3 (Y279* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 3239458	NM_001243279.3(ACSF3):c.556C>G (p.Pro186Ala)	ACSF3 (P186A)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 3139728	NM_001243279.3(ACSF3):c.647A>C (p.His216Pro)	ACSF3 (H216P)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3139722	NM_001243279.3(ACSF3):c.594G>A (p.Met198Ile)	ACSF3 (M198I)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3139716	NM_001243279.3(ACSF3):c.583A>G (p.Lys195Glu)	ACSF3 (K195E)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 3139629	NM_001243279.3(ACSF3):c.1355G>T (p.Trp452Leu)	ACSF3 (W187L +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3063429	GRCh37/hg19 16q24.3(chr16:89127212-89339094)x3	ACSF3, ANKRD11 +3 more	Copy number gain	not specified	GUncertain significance
Select item 3063426	GRCh37/hg19 16q24.3(chr16:89151360-89518831)x1	ACSF3, ANKRD11 +4 more	Copy number loss	not specified	GPathogenic
Select item 3050356	NM_001243279.3(ACSF3):c.282G>C (p.Arg94=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	ACSF3-related disorder	GLikely benign
Select item 3024606	GRCh37/hg19 16q24.2-24.3(chr16:87866576-89424113)x1	MVD, PABPN1L +22 more	Copy number loss	not provided	GPathogenic
Select item 3022694	NM_001243279.3(ACSF3):c.876A>G (p.Ala292=)	ACSF3	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 3022070	NM_001243279.3(ACSF3):c.693A>G (p.Ala231=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 3021886	NM_001243279.3(ACSF3):c.1501+18G>A	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 3021374	NM_001243279.3(ACSF3):c.904G>T (p.Glu302Ter)	ACSF3 (E37* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 3018362	NM_001243279.3(ACSF3):c.1239+11C>G	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 3017695	NM_001243279.3(ACSF3):c.1704G>T (p.Ala568=)	ACSF3	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 3016821	NM_001243279.3(ACSF3):c.1240-7T>G	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 3012330	NM_001243279.3(ACSF3):c.1107C>T (p.Thr369=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 3009713	NM_001243279.3(ACSF3):c.1296G>C (p.Val432=)	ACSF3	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 3007083	NM_001243279.3(ACSF3):c.252G>A (p.Arg84=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 3005643	NM_001243279.3(ACSF3):c.667-9C>G	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 3000538	NM_001243279.3(ACSF3):c.335A>C (p.Gln112Pro)	ACSF3 (Q112P)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 2998602	NM_001243279.3(ACSF3):c.453G>A (p.Glu151=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2993022	NM_001243279.3(ACSF3):c.1240-11A>C	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2990835	NM_001243279.3(ACSF3):c.1725C>T (p.Pro575=)	ACSF3	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2983266	NM_001243279.3(ACSF3):c.501G>A (p.Leu167=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2982518	NM_001243279.3(ACSF3):c.1617T>C (p.Asn539=)	ACSF3	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2980610	NM_001243279.3(ACSF3):c.1366+16A>G	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2979955	NM_001243279.3(ACSF3):c.1410C>T (p.Gly470=)	ACSF3	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2978659	NM_001243279.3(ACSF3):c.978-19C>G	ACSF3, LOC125177393	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2972557	NM_001243279.3(ACSF3):c.1501+12G>A	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2969614	NM_001243279.3(ACSF3):c.261G>C (p.Gly87=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2968270	NM_001243279.3(ACSF3):c.666+19C>T	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2959313	NM_001243279.3(ACSF3):c.1240-20A>G	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2957304	NM_001243279.3(ACSF3):c.667-14C>G	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2921122	NM_001243279.3(ACSF3):c.1016T>C (p.Val339Ala)	ACSF3, LOC125177393 (V74A +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 2918308	NM_001243279.3(ACSF3):c.303A>G (p.Leu101=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2918202	NM_001243279.3(ACSF3):c.243G>C (p.Glu81Asp)	ACSF3 (E81D)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 2917387	NM_001243279.3(ACSF3):c.1366+17T>C	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2917281	NM_001243279.3(ACSF3):c.1239+20G>C	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2917069	NM_001243279.3(ACSF3):c.1127-18G>A	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2915901	NM_001243279.3(ACSF3):c.953del (p.Arg318fs)	ACSF3 (R318fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 2915293	NM_001243279.3(ACSF3):c.666+16C>T	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2914981	NM_001243279.3(ACSF3):c.1127-12C>T	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2914112	NM_001243279.3(ACSF3):c.667-11G>A	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2911908	NM_001243279.3(ACSF3):c.1240-15C>G	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2911253	NM_001243279.3(ACSF3):c.1239+13G>A	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2906268	NM_001243279.3(ACSF3):c.1239+11C>A	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2905569	NM_001243279.3(ACSF3):c.1240-19T>C	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2905027	NM_001243279.3(ACSF3):c.814_820del (p.Pro272fs)	ACSF3 (P7fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 2903207	NM_001243279.3(ACSF3):c.1155A>C (p.Val385=)	ACSF3	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2903198	NM_001243279.3(ACSF3):c.151C>T (p.Leu51=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2902232	NM_001243279.3(ACSF3):c.657C>T (p.Ile219=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2900635	NM_001243279.3(ACSF3):c.1239+14C>T	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2900365	NM_001243279.3(ACSF3):c.1127-12C>G	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2898610	NM_001243279.3(ACSF3):c.789C>G (p.Thr263=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2898125	NM_001243279.3(ACSF3):c.1614-16G>A	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2894418	NM_001243279.3(ACSF3):c.888dup (p.Tyr297fs)	ACSF3 (Y297fs +1 more)	Duplication (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 2893930	NM_001243279.3(ACSF3):c.822+16G>C	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2892501	NM_001243279.3(ACSF3):c.1366+11G>C	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2892418	NM_001243279.3(ACSF3):c.255C>G (p.Leu85=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2887971	NM_001243279.3(ACSF3):c.666+10G>C	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2887349	NM_001243279.3(ACSF3):c.1502-20A>G	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2886246	NM_001243279.3(ACSF3):c.667-19G>A	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2886197	NM_001243279.3(ACSF3):c.1613+16del	ACSF3	Deletion (intron variant)	Combined malonic and methylmalonic acidemia	GBenign
Select item 2885462	NM_001243279.3(ACSF3):c.1502-6C>A	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2884779	NM_001243279.3(ACSF3):c.823-1G>A	ACSF3	Single nucleotide variant (splice acceptor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2881578	NM_001243279.3(ACSF3):c.714C>T (p.Ile238=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2880965	NM_001243279.3(ACSF3):c.1367-8T>A	ACSF3	Single nucleotide variant (non-coding transcript variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2879402	NM_001243279.3(ACSF3):c.612G>T (p.Gly204=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2868062	NM_001243279.3(ACSF3):c.363G>A (p.Val121=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2867957	NM_001243279.3(ACSF3):c.1240-18G>A	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2867035	NM_001243279.3(ACSF3):c.771T>A (p.Pro257=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign

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