ClinVar for MedGen (Select 481944) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 (intron 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 (non-coding transcript 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
Select item 2864283	NM_001243279.3(ACSF3):c.1602del (p.Glu535fs)	ACSF3 (E270fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 2861624	NM_001243279.3(ACSF3):c.27C>T (p.Phe9=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2858766	NM_001243279.3(ACSF3):c.1366+11_1366+16del	ACSF3	Deletion (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2857574	NM_001243279.3(ACSF3):c.1502-1G>C	ACSF3	Single nucleotide variant (splice acceptor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2857198	NM_001243279.3(ACSF3):c.823-7T>A	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2851353	NM_001243279.3(ACSF3):c.24C>G (p.Thr8=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2850842	NM_001243279.3(ACSF3):c.192C>T (p.Gly64=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2848439	NM_001243279.3(ACSF3):c.1400G>A (p.Trp467Ter)	ACSF3 (W202* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 2845684	NM_001243279.3(ACSF3):c.837C>T (p.Phe279=)	ACSF3	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2842651	NM_001243279.3(ACSF3):c.1563C>A (p.Thr521=)	ACSF3	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2840288	NM_001243279.3(ACSF3):c.1245C>A (p.Thr415=)	ACSF3	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2839518	NM_001243279.3(ACSF3):c.1240-6C>T	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2839167	NM_001243279.3(ACSF3):c.84A>G (p.Gly28=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2837043	NM_001243279.3(ACSF3):c.323_402dup (p.Glu135delinsThrSerTrpProSerGlyArgHisGlyTer)	ACSF3	Duplication (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 2836053	NM_001243279.3(ACSF3):c.1044C>T (p.Gly348=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2835857	NM_001243279.3(ACSF3):c.633C>G (p.Gly211=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2835813	NM_001243279.3(ACSF3):c.1431C>T (p.Ile477=)	ACSF3	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2835260	NM_001243279.3(ACSF3):c.108A>G (p.Pro36=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2828381	NM_001243279.3(ACSF3):c.1707C>A (p.Leu569=)	ACSF3	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2823880	NM_001243279.3(ACSF3):c.993C>T (p.Gly331=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2822548	NM_001243279.3(ACSF3):c.1189del (p.Glu397fs)	ACSF3 (E397fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 2822372	NM_001243279.3(ACSF3):c.978-20C>T	ACSF3, LOC125177393	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2821385	NM_001243279.3(ACSF3):c.1367-15G>T	ACSF3	Single nucleotide variant (intron variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2820431	NM_001243279.3(ACSF3):c.896_899dup (p.Met301fs)	ACSF3 (M301fs +1 more)	Duplication (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 2816198	NM_001243279.3(ACSF3):c.184C>T (p.Gln62Ter)	ACSF3 (Q62*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 2813254	NM_001243279.3(ACSF3):c.667-4G>A	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2806879	NM_001243279.3(ACSF3):c.1144C>T (p.Leu382=)	ACSF3	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2806400	NM_001243279.3(ACSF3):c.1367-13C>T	ACSF3	Single nucleotide variant (intron variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2804869	NM_001243279.3(ACSF3):c.1206C>T (p.Thr402=)	ACSF3	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2803959	NM_001243279.3(ACSF3):c.33C>G (p.Arg11=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2803790	NM_001243279.3(ACSF3):c.822+12_822+61del	ACSF3	Deletion (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2798493	NM_001243279.3(ACSF3):c.1366+15C>T	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2795939	NM_001243279.3(ACSF3):c.423C>G (p.Ser141=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2788781	NM_001243279.3(ACSF3):c.667-6C>G	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2780624	NM_001243279.3(ACSF3):c.723G>T (p.Val241=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2778028	NM_001243279.3(ACSF3):c.582C>T (p.Asn194=)	ACSF3	Single nucleotide variant (synonymous variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2772941	NM_001243279.3(ACSF3):c.822+10G>A	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign

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