VAC14[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059466, LOC130059467 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	AARS1, ACD +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	LOC128772417, LOC128772418 +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	ACD, ACSF3 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC130059153, LOC130059154 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	AARS1, ACD +869 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 148810	GRCh38/hg38 16q22.1-22.2(chr16:69918076-71541872)x3	AARS1, CALB2 +84 more	Copy number gain	See cases	GUncertain significance
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	LOC100129617, LOC100506281 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	See cases	GPathogenic
Select item 2033952	NM_018052.5(VAC14):c.2346C>G (p.Leu782=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1444274	NM_018052.5(VAC14):c.2338G>A (p.Val780Ile)	VAC14 (V546I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1933316	NM_018052.5(VAC14):c.2333G>A (p.Arg778Gln)	VAC14 (R544Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495009	NM_018052.5(VAC14):c.2329G>A (p.Asp777Asn)	VAC14 (D777N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1905245	NM_018052.5(VAC14):c.2311G>A (p.Gly771Arg)	VAC14 (G771R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1477394	NM_018052.5(VAC14):c.2310C>A (p.Ser770Arg)	VAC14 (S770R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 797731	NM_018052.5(VAC14):c.2310C>T (p.Ser770=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 785538	NM_018052.5(VAC14):c.2309G>A (p.Ser770Asn)	VAC14 (S536N +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2148235	NM_018052.5(VAC14):c.2306G>A (p.Arg769Gln)	VAC14 (R769Q +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1411244	NM_018052.5(VAC14):c.2297G>A (p.Arg766Gln)	VAC14 (R532Q +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2854684	NM_018052.5(VAC14):c.2277G>A (p.Gln759=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1369308	NM_018052.5(VAC14):c.2266G>T (p.Glu756Ter)	VAC14 (E522* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2865221	NM_018052.5(VAC14):c.2260C>A (p.His754Asn)	VAC14 (H754N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2171499	NM_018052.5(VAC14):c.2254C>T (p.Leu752=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 725469	NM_018052.5(VAC14):c.2244C>T (p.Tyr748=)	VAC14	Single nucleotide variant (synonymous variant)	VAC14-related condition +1 more	GLikely benign
Select item 2901622	NM_018052.5(VAC14):c.2238C>T (p.Ile746=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1360597	NM_018052.5(VAC14):c.2234G>T (p.Ser745Ile)	VAC14 (S511I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2132803	NM_018052.5(VAC14):c.2228C>T (p.Ser743Phe)	VAC14 (S743F +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2125313	NM_018052.5(VAC14):c.2209A>G (p.Lys737Glu)	VAC14 (K503E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1500539	NM_018052.5(VAC14):c.2192_2197dup (p.Ser731_Leu732dup)	VAC14	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 2059589	NM_018052.5(VAC14):c.2190C>A (p.Asp730Glu)	VAC14 (D496E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1671021	NM_018052.5(VAC14):c.2187-6T>C	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1472944	NM_018052.5(VAC14):c.2187-9T>A	VAC14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2780187	NM_018052.5(VAC14):c.2187-10C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1965733	NM_018052.5(VAC14):c.2187-10C>G	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 3011319	NM_018052.5(VAC14):c.2187-12C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1247714	NM_018052.5(VAC14):c.2187-110C>G	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2646686	NM_018052.5(VAC14):c.2186+825G>A	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1182665	NM_018052.5(VAC14):c.2186+143dup	VAC14	Duplication (intron variant)	not provided	GBenign
Select item 1225645	NM_018052.5(VAC14):c.2186+148C>A	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1225560	NM_018052.5(VAC14):c.2186+29C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2800037	NM_018052.5(VAC14):c.2186+17G>A	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1587937	NM_018052.5(VAC14):c.2186+10G>A	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2073071	NM_018052.5(VAC14):c.2186+9C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2168621	NM_018052.5(VAC14):c.2185G>A (p.Glu729Lys)	VAC14 (E495K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2192301	NM_018052.5(VAC14):c.2184C>T (p.Thr728=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 786293	NM_018052.5(VAC14):c.2172G>A (p.Glu724=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2008538	NM_018052.5(VAC14):c.2158G>T (p.Val720Leu)	VAC14 (V486L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2781557	NM_018052.5(VAC14):c.2154G>A (p.Gln718=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1642938	NM_018052.5(VAC14):c.2148G>T (p.Arg716=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1934823	NM_018052.5(VAC14):c.2146C>T (p.Arg716Trp)	VAC14 (R482W +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1391137	NM_018052.5(VAC14):c.2141C>T (p.Ser714Leu)	VAC14 (S480L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1984999	NM_018052.5(VAC14):c.2133G>A (p.Gln711=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 795950	NM_018052.5(VAC14):c.2124C>T (p.Ser708=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1235270	NM_018052.5(VAC14):c.2115G>T (p.Pro705=)	VAC14	Single nucleotide variant (synonymous variant)	Striatonigral degeneration, childhood-onset +1 more	GBenign
Select item 733971	NM_018052.5(VAC14):c.2115G>A (p.Pro705=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2122715	NM_018052.5(VAC14):c.2114C>T (p.Pro705Leu)	VAC14 (P705L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1355199	NM_018052.5(VAC14):c.2106del (p.Met702fs)	VAC14 (M702fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 2902012	NM_018052.5(VAC14):c.2103C>T (p.Leu701=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1952360	NM_018052.5(VAC14):c.2103C>G (p.Leu701=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2976236	NM_018052.5(VAC14):c.2100G>A (p.Leu700=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2898450	NM_018052.5(VAC14):c.2094C>T (p.Tyr698=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1593544	NM_018052.5(VAC14):c.2082C>T (p.Ile694=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998231	NM_018052.5(VAC14):c.2081T>C (p.Ile694Thr)	VAC14 (I694T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1964695	NM_018052.5(VAC14):c.2073del (p.Tyr692fs)	VAC14 (Y692fs +1 more)	Deletion (frameshift variant)	not provided	GPathogenic
Select item 1919422	NM_018052.5(VAC14):c.2058C>T (p.Asp686=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2988671	NM_018052.5(VAC14):c.2055G>A (p.Leu685=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 808069	NM_018052.5(VAC14):c.2042G>A (p.Arg681His)	VAC14 (R447H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1900526	NM_018052.5(VAC14):c.2036-15C>G	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2989421	NM_018052.5(VAC14):c.2036-20C>G	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267841	NM_018052.5(VAC14):c.2036-66C>G	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1647282	NM_018052.5(VAC14):c.2035+19del	VAC14	Deletion (intron variant)	not provided	GLikely benign
Select item 1647283	NM_018052.5(VAC14):c.2035+18C>G	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2776620	NM_018052.5(VAC14):c.2035+12C>G	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1632930	NM_018052.5(VAC14):c.2035+7A>C	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 774505	NM_018052.5(VAC14):c.2034A>G (p.Thr678=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1027664	NM_018052.5(VAC14):c.2033C>A (p.Thr678Lys)	VAC14 (T444K +1 more)	Single nucleotide variant (missense variant)	Neurodegeneration	GUncertain significance
Select item 1496446	NM_018052.5(VAC14):c.2026A>G (p.Ile676Val)	VAC14 (I442V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1030622	NM_018052.5(VAC14):c.2015T>C (p.Ile672Thr)	VAC14 (I438T +1 more)	Single nucleotide variant (missense variant)	Striatonigral degeneration, childhood-onset	GUncertain significance
Select item 638191	NM_018052.5(VAC14):c.2005G>T (p.Val669Leu)	VAC14 (V669L +1 more)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 2794616	NM_018052.5(VAC14):c.2001G>A (p.Lys667=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1443895	NM_018052.5(VAC14):c.1987G>A (p.Ala663Thr)	VAC14 (A663T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2492630	NM_018052.5(VAC14):c.1981T>C (p.Phe661Leu)	VAC14 (F427L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1923009	NM_018052.5(VAC14):c.1977G>T (p.Val659=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 730063	NM_018052.5(VAC14):c.1974C>G (p.Thr658=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2818913	NM_018052.5(VAC14):c.1965G>A (p.Leu655=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1584876	NM_018052.5(VAC14):c.1956-6A>G	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1917176	NM_018052.5(VAC14):c.1956-10G>A	VAC14	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1536660	NM_018052.5(VAC14):c.1955+18G>A	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1596281	NM_018052.5(VAC14):c.1932C>T (p.His644=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3001838	NM_018052.5(VAC14):c.1929G>A (p.Arg643=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1332727	NM_018052.5(VAC14):c.1927C>T (p.Arg643Trp)	VAC14 (R409W +1 more)	Single nucleotide variant (missense variant)	Striatonigral degeneration, childhood-onset	GUncertain significance
Select item 795860	NM_018052.5(VAC14):c.1902C>T (p.Ser634=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2174512	NM_018052.5(VAC14):c.1896G>T (p.Thr632=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 774230	NM_018052.5(VAC14):c.1896G>A (p.Thr632=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
Select item 397535	NM_018052.5(VAC14):c.1895C>T (p.Thr632Met)	VAC14 (T632M +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic

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