Related gene-specific medical variations for Gene (Select 197322) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 2758710	NM_001243279.3(ACSF3):c.1126+18A>C	ACSF3, LOC125177393	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2714743	NM_001243279.3(ACSF3):c.978-19C>T	ACSF3, LOC125177393	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2690831	NM_001243279.3(ACSF3):c.1376T>C (p.Val459Ala)	ACSF3 (V194A +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 2680601	NM_001243279.3(ACSF3):c.749_750del (p.Val250fs)	ACSF3 (V250fs)	Microsatellite (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680592	NM_001243279.3(ACSF3):c.1491dup (p.Ser498fs)	ACSF3 (S233fs +1 more)	Duplication (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680580	NM_001243279.3(ACSF3):c.967del (p.Glu323fs)	ACSF3 (E323fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680562	NM_001243279.3(ACSF3):c.829G>T (p.Glu277Ter)	ACSF3 (E12* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680553	NM_001243279.3(ACSF3):c.797_800dup (p.Met267fs)	ACSF3 (M267fs +1 more)	Duplication (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680550	NM_001243279.3(ACSF3):c.1203C>A (p.Tyr401Ter)	ACSF3 (Y136* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680548	NM_001243279.3(ACSF3):c.473_481delinsTCCAGGAAGCT (p.Pro158fs)	ACSF3 (P158fs)	Indel (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680540	NM_001243279.3(ACSF3):c.1624_1631delinsCAGATGC (p.Ala542fs)	ACSF3 (A277fs +1 more)	Indel (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680534	NM_001243279.3(ACSF3):c.484A>T (p.Lys162Ter)	ACSF3 (K162*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680532	NM_001243279.3(ACSF3):c.653del (p.Asn218fs)	ACSF3 (N218fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680522	NM_001243279.3(ACSF3):c.216T>G (p.Tyr72Ter)	ACSF3 (Y72*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680511	NM_001243279.3(ACSF3):c.1239+1G>A	ACSF3	Single nucleotide variant (splice donor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680499	NM_001243279.3(ACSF3):c.1324G>T (p.Glu442Ter)	ACSF3 (E177* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680491	NM_001243279.3(ACSF3):c.147_153del (p.Ala50fs)	ACSF3 (A50fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680483	NM_001243279.3(ACSF3):c.1367-41_1398delinsATCCG	ACSF3	Indel (non-coding transcript variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680471	NM_001243279.3(ACSF3):c.1247del (p.Pro416fs)	ACSF3 (P151fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680462	NM_001243279.3(ACSF3):c.1366+1G>T	ACSF3	Single nucleotide variant (splice donor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680453	NM_001243279.3(ACSF3):c.1293del (p.Val432fs)	ACSF3 (V167fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680447	NM_001243279.3(ACSF3):c.407_408del (p.Tyr136fs)	ACSF3 (Y136fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680438	NM_001243279.3(ACSF3):c.119C>A (p.Ser40Ter)	ACSF3 (S40*)	Single nucleotide variant (nonsense +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680432	NM_001243279.3(ACSF3):c.1331dup (p.Ser445fs)	ACSF3 (S180fs +1 more)	Duplication (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680431	NM_001243279.3(ACSF3):c.191_201del (p.Gly64fs)	ACSF3 (G64fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680429	NM_001243279.3(ACSF3):c.265_266del (p.Val89fs)	ACSF3 (V89fs)	Microsatellite (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680427	NM_001243279.3(ACSF3):c.560dup (p.Glu189fs)	ACSF3 (E189fs)	Duplication (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680423	NM_001243279.3(ACSF3):c.1563_1564dup (p.Leu522fs)	ACSF3 (L257fs +1 more)	Duplication (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680421	NM_001243279.3(ACSF3):c.1240-1G>A	ACSF3	Single nucleotide variant (splice acceptor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2680396	NM_001243279.3(ACSF3):c.634G>A (p.Val212Met)	ACSF3 (V212M)	Single nucleotide variant (missense variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2577201	NM_001243279.3(ACSF3):c.1073C>A (p.Thr358Asn)	ACSF3, LOC125177393 (T358N +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2539308	NM_001243279.3(ACSF3):c.1067G>T (p.Gly356Val)	ACSF3, LOC125177393 (G356V +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2518494	NM_001243279.3(ACSF3):c.1064A>G (p.Tyr355Cys)	ACSF3, LOC125177393 (Y90C +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2493386	NM_001243279.3(ACSF3):c.1100C>G (p.Pro367Arg)	ACSF3, LOC125177393 (P367R +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2439752	NM_001243279.3(ACSF3):c.1367-23_1396del	ACSF3	Microsatellite (splice acceptor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2439725	NM_001243279.3(ACSF3):c.1614-2A>G	ACSF3	Single nucleotide variant (splice acceptor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2428575	NM_001243279.3(ACSF3):c.1052T>C (p.Leu351Pro)	ACSF3, LOC125177393 (L351P +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 2287146	NM_001243279.3(ACSF3):c.1123C>A (p.Pro375Thr)	ACSF3, LOC125177393 (P375T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2217853	NM_001243279.3(ACSF3):c.1006C>A (p.Pro336Thr)	ACSF3, LOC125177393 (P71T +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2160724	NM_001243279.3(ACSF3):c.978-2A>G	ACSF3, LOC125177393	Single nucleotide variant (splice acceptor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 2153251	NM_001243279.3(ACSF3):c.1126+5G>A	ACSF3, LOC125177393	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 2141321	NM_001243279.3(ACSF3):c.1117C>T (p.Arg373Cys)	ACSF3, LOC125177393 (R108C +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 2110934	NM_001243279.3(ACSF3):c.1120C>T (p.Leu374=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2106156	NM_001243279.3(ACSF3):c.996A>G (p.Ser332=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2094207	NM_001243279.3(ACSF3):c.1062G>T (p.Arg354=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 2062829	NM_001243279.3(ACSF3):c.1126+5G>C	ACSF3, LOC125177393	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 1999241	NM_001243279.3(ACSF3):c.978-8C>T	ACSF3, LOC125177393	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1978114	NM_001243279.3(ACSF3):c.1029G>A (p.Trp343Ter)	ACSF3, LOC125177393 (W343* +1 more)	Single nucleotide variant (nonsense +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 1929493	NM_001243279.3(ACSF3):c.1053G>C (p.Leu351=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1697341	NM_001243279.3(ACSF3):c.1394_1411del (p.Gln465_Gly470del)	ACSF3	Deletion (inframe_deletion +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1697340	NM_001243279.3(ACSF3):c.1385A>C (p.Lys462Thr)	ACSF3 (K197T +1 more)	Single nucleotide variant (missense variant +1 more)	Not Specified	Gno classification for the single variant Sno classification for the single variant Ono classification for the single variant
Select item 1696039	NM_001243279.3(ACSF3):c.1061G>A (p.Arg354Gln)	ACSF3, LOC125177393 (R354Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1692996	NM_001243279.3(ACSF3):c.1367-464C>T	ACSF3	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 1645034	NM_001243279.3(ACSF3):c.987C>A (p.Val329=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1594728	NM_001243279.3(ACSF3):c.1005G>A (p.Leu335=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1594265	NM_001243279.3(ACSF3):c.1098G>A (p.Gly366=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia +1 more	GLikely benign
Select item 1590793	NM_001243279.3(ACSF3):c.1041G>C (p.Thr347=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1586533	NM_001243279.3(ACSF3):c.1011C>T (p.Leu337=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1569014	NM_001243279.3(ACSF3):c.1119C>T (p.Arg373=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1549778	NM_001243279.3(ACSF3):c.1090C>T (p.Leu364=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1540411	NM_001243279.3(ACSF3):c.999T>C (p.Ala333=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1492991	NM_001243279.3(ACSF3):c.1117C>G (p.Arg373Gly)	ACSF3, LOC125177393 (R108G +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 1457547	NM_001243279.3(ACSF3):c.1104del (p.Thr369fs)	ACSF3, LOC125177393 (T369fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic
Select item 1426657	NM_001243279.3(ACSF3):c.1003del (p.Leu335fs)	ACSF3, LOC125177393 (L335fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 1424416	NM_001243279.3(ACSF3):c.1004T>A (p.Leu335Gln)	ACSF3, LOC125177393 (L335Q +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia	GUncertain significance
Select item 1373556	NM_001243279.3(ACSF3):c.1110del (p.Ala371fs)	ACSF3, LOC125177393 (A371fs +1 more)	Deletion (frameshift variant +1 more)	Combined malonic and methylmalonic acidemia	GPathogenic/Likely pathogenic
Select item 1323845	NM_001243279.3(ACSF3):c.136_146del (p.Val46fs)	ACSF3 (V46fs)	Deletion (frameshift variant +2 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 1307215	NM_001243279.3(ACSF3):c.1084A>T (p.Met362Leu)	ACSF3, LOC125177393 (M362L +1 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1296438	NM_001243279.3(ACSF3):c.-315C>G	ACSF3, LOC130059789	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1277538	NM_001243279.3(ACSF3):c.1126+244T>G	ACSF3, LOC125177393	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1248015	NM_001243279.3(ACSF3):c.-269C>G	ACSF3, LOC130059789	Single nucleotide variant (5 prime UTR variant +1 more)	not provided	GBenign
Select item 1230754	NM_001243279.3(ACSF3):c.1126+117G>A	ACSF3, LOC125177393	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1229933	NM_001243279.3(ACSF3):c.978-52C>T	ACSF3, LOC125177393	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1188940	NM_001243279.3(ACSF3):c.978-83C>G	ACSF3, LOC125177393	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1177617	NM_001243279.3(ACSF3):c.1126+40G>T	ACSF3, LOC125177393	Single nucleotide variant (intron variant)	not provided +1 more	GBenign
Select item 1158802	NM_001243279.3(ACSF3):c.1041G>A (p.Thr347=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1148059	NM_001243279.3(ACSF3):c.1116G>A (p.Val372=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1147238	NM_001243279.3(ACSF3):c.978-6G>T	ACSF3, LOC125177393	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1140401	NM_001243279.3(ACSF3):c.1092G>T (p.Leu364=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1139731	NM_001243279.3(ACSF3):c.1092G>A (p.Leu364=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1138505	NM_001243279.3(ACSF3):c.1107C>A (p.Thr369=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1138064	NM_001243279.3(ACSF3):c.1080C>T (p.Ile360=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1136053	NM_001243279.3(ACSF3):c.978-4G>A	ACSF3, LOC125177393	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1135712	NM_001243279.3(ACSF3):c.1032G>A (p.Lys344=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1135172	NM_001243279.3(ACSF3):c.1107C>G (p.Thr369=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1127690	NM_001243279.3(ACSF3):c.1053G>A (p.Leu351=)	LOC125177393, ACSF3	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1119529	NM_001243279.3(ACSF3):c.990A>G (p.Ser330=)	ACSF3, LOC125177393	Single nucleotide variant (non-coding transcript variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1114377	NM_001243279.3(ACSF3):c.1126+10C>T	ACSF3, LOC125177393	Single nucleotide variant (intron variant)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1102143	NM_001243279.3(ACSF3):c.1080C>A (p.Ile360=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1093755	NM_001243279.3(ACSF3):c.1122G>A (p.Leu374=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1083284	NM_001243279.3(ACSF3):c.1050C>A (p.Thr350=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1078080	NM_001243279.3(ACSF3):c.1050C>G (p.Thr350=)	ACSF3, LOC125177393	Single nucleotide variant (synonymous variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely benign
Select item 1067556	NM_001243279.3(ACSF3):c.1075G>C (p.Glu359Gln)	ACSF3, LOC125177393 (E359Q +1 more)	Single nucleotide variant (missense variant +1 more)	Combined malonic and methylmalonic acidemia	GLikely pathogenic
Select item 1067132	NM_001243279.3(ACSF3):c.978-1G>A	ACSF3, LOC125177393	Single nucleotide variant (splice acceptor variant)	Combined malonic and methylmalonic acidemia	GLikely pathogenic

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