"Invitae"[submitter] AND "VAC14"[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 1930982	NM_018052.5(VAC14):c.1890C>T (p.Val630=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1933522	NM_018052.5(VAC14):c.1878C>T (p.Cys626=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3003493	NM_018052.5(VAC14):c.1869C>A (p.Arg623=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1339182	NM_018052.5(VAC14):c.1867C>T (p.Arg623Cys)	VAC14 (R389C +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2989530	NM_018052.5(VAC14):c.1837-7C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1953623	NM_018052.5(VAC14):c.1837-12G>C	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1633238	NM_018052.5(VAC14):c.1837-12G>A	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1934122	NM_018052.5(VAC14):c.1836+14G>A	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1605002	NM_018052.5(VAC14):c.1836+13C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2083726	NM_018052.5(VAC14):c.1836+10G>C	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1989902	NM_018052.5(VAC14):c.1836+10G>A	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 787126	NM_018052.5(VAC14):c.1836+9C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2898922	NM_018052.5(VAC14):c.1803G>A (p.Gln601=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 740535	NM_018052.5(VAC14):c.1797C>T (p.Leu599=)	VAC14	Single nucleotide variant (synonymous variant)	VAC14-related condition +1 more	GLikely benign
Select item 2986699	NM_018052.5(VAC14):c.1780C>T (p.Leu594=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1533770	NM_018052.5(VAC14):c.1776C>A (p.Ile592=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1673634	NM_018052.5(VAC14):c.1761C>T (p.His587=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1529103	NM_018052.5(VAC14):c.1749G>A (p.Ser583=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1032018	NM_018052.5(VAC14):c.1723C>T (p.Arg575Trp)	VAC14 (R575W +1 more)	Single nucleotide variant (missense variant)	Striatonigral degeneration, childhood-onset +2 more	GConflicting classifications of pathogenicity
Select item 1394992	NM_018052.5(VAC14):c.1705A>G (p.Met569Val)	VAC14 (M569V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1555790	NM_018052.5(VAC14):c.1704A>G (p.Ser568=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1548740	NM_018052.5(VAC14):c.1674C>T (p.Leu558=)	VAC14	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1669201	NM_018052.5(VAC14):c.1661+18G>A	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1974930	NM_018052.5(VAC14):c.1661+16G>A	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1630940	NM_018052.5(VAC14):c.1661+13G>A	VAC14	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1915036	NM_018052.5(VAC14):c.1661+12C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2907040	NM_018052.5(VAC14):c.1661+7C>T	VAC14	Single nucleotide variant (intron variant)	not provided	GLikely benign

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