HACD1[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	LOC130003185, LOC130003186 +680 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	LINC00700, LINC00701 +837 more	Copy number gain	See cases	GPathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	LOC130003254, LOC130003255 +1221 more	Copy number gain	See cases	GBenign
Select item 148232	GRCh38/hg38 10p14-12.31(chr10:7428770-21587752)x1	ACBD7, ACBD7-DCLRE1CP1 +388 more	Copy number loss	See cases	GPathogenic
Select item 1301706	NM_014241.4(HACD1):c.853G>C (p.Glu285Gln)	HACD1 (E285Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1487533	NM_014241.4(HACD1):c.844G>C (p.Val282Leu)	HACD1 (V282L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007641	NM_014241.4(HACD1):c.837T>C (p.His279=)	HACD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1965544	NM_014241.4(HACD1):c.826A>G (p.Lys276Glu)	HACD1 (K276E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1943903	NM_014241.4(HACD1):c.809T>C (p.Met270Thr)	HACD1 (M270T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1472227	NM_014241.4(HACD1):c.808A>G (p.Met270Val)	HACD1 (M270V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1908570	NM_014241.4(HACD1):c.800A>G (p.Tyr267Cys)	HACD1 (Y267C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1479658	NM_014241.4(HACD1):c.793C>T (p.Gln265Ter)	HACD1 (Q265*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1698409	NM_014241.4(HACD1):c.785-1G>T	HACD1	Single nucleotide variant (splice acceptor variant)	Congenital myopathy 11	GPathogenic
Select item 1414427	NM_014241.4(HACD1):c.785-2A>G	HACD1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
Select item 2759824	NM_014241.4(HACD1):c.785-4G>A	HACD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2020597	NM_014241.4(HACD1):c.785-6A>G	HACD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1264618	NM_014241.4(HACD1):c.785-117G>A	HACD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1264544	NM_014241.4(HACD1):c.784+119C>T	HACD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1259757	NM_014241.4(HACD1):c.784+22C>G	HACD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1551189	NM_014241.4(HACD1):c.784+20T>C	HACD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1635206	NM_014241.4(HACD1):c.784+15A>G	HACD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2090668	NM_014241.4(HACD1):c.764C>T (p.Thr255Ile)	HACD1 (T255I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1423724	NM_014241.4(HACD1):c.764C>A (p.Thr255Asn)	HACD1 (T255N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1452988	NM_014241.4(HACD1):c.743_747del (p.Tyr248fs)	HACD1 (Y248fs)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 709447	NM_014241.4(HACD1):c.746A>G (p.Tyr249Cys)	HACD1 (Y249C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 157511	NM_014241.4(HACD1):c.744C>A (p.Tyr248Ter)	HACD1 (Y248*)	Single nucleotide variant (nonsense)	Congenital myopathy 11	GPathogenic
Select item 780851	NM_014241.4(HACD1):c.741C>T (p.Asp247=)	HACD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1970590	NM_014241.4(HACD1):c.715C>G (p.Pro239Ala)	HACD1 (P239A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2741747	NM_014241.4(HACD1):c.706del (p.Ser235_Ile236insTer)	HACD1	Deletion (nonsense)	not provided	GPathogenic
Select item 1360001	NM_014241.4(HACD1):c.706A>G (p.Ile236Val)	HACD1 (I236V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1918974	NM_014241.4(HACD1):c.705A>G (p.Ser235=)	HACD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1912918	NM_014241.4(HACD1):c.694G>A (p.Gly232Arg)	HACD1 (G232R)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1515535	NM_014241.4(HACD1):c.683T>A (p.Val228Glu)	HACD1 (V228E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1357841	NM_014241.4(HACD1):c.678_679delinsAT (p.His227Tyr)	HACD1 (H227Y)	Indel (missense variant)	not provided	GUncertain significance
Select item 1295715	NM_014241.4(HACD1):c.679C>T (p.His227Tyr)	HACD1 (H227Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 779108	NM_014241.4(HACD1):c.678G>A (p.Pro226=)	HACD1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1486994	NM_014241.4(HACD1):c.677C>T (p.Pro226Leu)	HACD1 (P226L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1494672	NM_014241.4(HACD1):c.667G>A (p.Ala223Thr)	HACD1 (A223T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2199499	NM_014241.4(HACD1):c.666C>T (p.Tyr222=)	HACD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2245723	NM_014241.4(HACD1):c.659C>T (p.Thr220Ile)	HACD1 (T220I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1591322	NM_014241.4(HACD1):c.657T>G (p.Leu219=)	HACD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2829063	NM_014241.4(HACD1):c.654T>G (p.Leu218=)	HACD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 737064	NM_014241.4(HACD1):c.606-6C>T	HACD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1638309	NM_014241.4(HACD1):c.606-15T>G	HACD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2029970	NM_014241.4(HACD1):c.606-16G>C	HACD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1262369	NM_014241.4(HACD1):c.606-130G>A	HACD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2769126	NM_014241.4(HACD1):c.605+15C>A	HACD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2007766	NM_014241.4(HACD1):c.605+9A>G	HACD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 775284	NM_014241.4(HACD1):c.605+5C>T	HACD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2096973	NM_014241.4(HACD1):c.605+4G>A	HACD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1929981	NM_014241.4(HACD1):c.599G>A (p.Trp200Ter)	HACD1 (W200*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1899961	NM_014241.4(HACD1):c.591C>T (p.Phe197=)	HACD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1551505	NM_014241.4(HACD1):c.585A>G (p.Pro195=)	HACD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1388152	NM_014241.4(HACD1):c.583C>G (p.Pro195Ala)	HACD1 (P195A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1562610	NM_014241.4(HACD1):c.582G>A (p.Leu194=)	HACD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1907157	NM_014241.4(HACD1):c.576C>T (p.Asp192=)	HACD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2178848	NM_014241.4(HACD1):c.568C>G (p.Leu190Val)	HACD1 (L190V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900479	NM_014241.4(HACD1):c.556_564del (p.Tyr186_Phe188del)	HACD1	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 1533015	NM_014241.4(HACD1):c.558C>T (p.Tyr186=)	HACD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1520995	NM_014241.4(HACD1):c.545G>A (p.Arg182His)	HACD1 (R182H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1490608	NM_014241.4(HACD1):c.484-15_533del	HACD1	Deletion (splice acceptor variant)	not provided	GLikely pathogenic
Select item 1627716	NM_014241.4(HACD1):c.522G>A (p.Ala174=)	HACD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 792833	NM_014241.4(HACD1):c.521C>T (p.Ala174Val)	HACD1 (A174V)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 1477560	NM_014241.4(HACD1):c.520G>A (p.Ala174Thr)	HACD1 (A174T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2121904	NM_014241.4(HACD1):c.509T>A (p.Leu170His)	HACD1 (L170H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 806443	NM_014241.4(HACD1):c.505G>A (p.Val169Met)	HACD1 (V169M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1952319	NM_014241.4(HACD1):c.503_504del (p.Val168fs)	HACD1 (V168fs)	Microsatellite (frameshift variant)	not provided	GPathogenic
Select item 2992858	NM_014241.4(HACD1):c.501T>C (p.Ser167=)	HACD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1662914	NM_014241.4(HACD1):c.484-5T>C	HACD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1926701	NM_014241.4(HACD1):c.484-20G>T	HACD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1235284	NM_014241.4(HACD1):c.484-124T>C	HACD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2699127	NM_014241.4(HACD1):c.483+19T>C	HACD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1631064	NM_014241.4(HACD1):c.483+11C>T	HACD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1943492	NM_014241.4(HACD1):c.483+2T>A	HACD1	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 2966204	NM_014241.4(HACD1):c.483A>G (p.Pro161=)	HACD1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1366421	NM_014241.4(HACD1):c.477A>G (p.Ile159Met)	HACD1 (I159M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1486209	NM_014241.4(HACD1):c.473G>T (p.Ser158Ile)	HACD1 (S158I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010232	NM_014241.4(HACD1):c.471C>T (p.His157=)	HACD1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 1617221	NM_014241.4(HACD1):c.462C>T (p.Leu154=)	HACD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1500625	NM_014241.4(HACD1):c.459G>T (p.Trp153Cys)	HACD1 (W153C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1698408	NM_014241.4(HACD1):c.458G>A (p.Trp153Ter)	HACD1 (W153*)	Single nucleotide variant (nonsense)	Congenital myopathy 11	GPathogenic
Select item 2419948	NM_014241.4(HACD1):c.422C>G (p.Thr141Ser)	HACD1 (T141S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1379404	NM_014241.4(HACD1):c.412G>A (p.Val138Met)	HACD1 (V138M)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1523733	NM_014241.4(HACD1):c.410C>T (p.Ser137Phe)	HACD1 (S137F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2776285	NM_014241.4(HACD1):c.395-4T>A	HACD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1639157	NM_014241.4(HACD1):c.395-12T>G	HACD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1253821	NM_014241.4(HACD1):c.394+25C>G	HACD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1435880	NM_014241.4(HACD1):c.394+3G>A	HACD1	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1960717	NM_014241.4(HACD1):c.385T>G (p.Cys129Gly)	HACD1 (C129G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2994429	NM_014241.4(HACD1):c.376-12A>G	HACD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1228253	NM_014241.4(HACD1):c.376-71G>A	HACD1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2962636	NM_014241.4(HACD1):c.375+20G>C	HACD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1670558	NM_014241.4(HACD1):c.375+20G>A	HACD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2870886	NM_014241.4(HACD1):c.375+15A>G	HACD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1543152	NM_014241.4(HACD1):c.375+11C>T	HACD1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1515844	NM_014241.4(HACD1):c.373_375+2del	HACD1	Deletion (splice donor variant)	not provided	GPathogenic
Select item 1954690	NM_014241.4(HACD1):c.351T>G (p.Phe117Leu)	HACD1 (F117L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1356439	NM_014241.4(HACD1):c.341C>T (p.Thr114Ile)	HACD1 (T114I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2056074	NM_014241.4(HACD1):c.334C>A (p.Gln112Lys)	HACD1 (Q112K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance

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