SPART[gene] and "single gene"[properties] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 883951	NM_015087.5(SPART):c.*2717C>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 883952	NM_015087.5(SPART):c.*2456T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311736	NM_015087.5(SPART):c.*2454A>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311737	NM_015087.5(SPART):c.*2343T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GLikely benign
Select item 311738	NM_015087.5(SPART):c.*2299T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 880662	NM_015087.5(SPART):c.*2280T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311739	NM_015087.5(SPART):c.*2256G>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311740	NM_015087.5(SPART):c.*2204C>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311741	NM_015087.5(SPART):c.2150_2154del	SPART	Deletion (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311742	NM_015087.5(SPART):c.2127_2130del	SPART	Deletion (3 prime UTR variant)	Troyer syndrome	GLikely benign
Select item 311743	NM_015087.5(SPART):c.*2123T>C	SPART	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 880663	NM_015087.5(SPART):c.*2071T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 882071	NM_015087.5(SPART):c.*2053C>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 882072	NM_015087.5(SPART):c.*2035T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 882073	NM_015087.5(SPART):c.*2023T>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 882074	NM_015087.5(SPART):c.*1908A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311744	NM_015087.5(SPART):c.*1892G>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311745	NM_015087.5(SPART):c.*1848A>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 882075	NM_015087.5(SPART):c.*1847G>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311746	NM_015087.5(SPART):c.*1799G>A	SPART	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 311747	NM_015087.5(SPART):c.*1794A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 883219	NM_015087.5(SPART):c.*1751A>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 883220	NM_015087.5(SPART):c.*1686G>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 883221	NM_015087.5(SPART):c.*1645C>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 883222	NM_015087.5(SPART):c.*1624C>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311748	NM_015087.5(SPART):c.*1550A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311749	NM_015087.5(SPART):c.*1456G>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 883223	NM_015087.5(SPART):c.*1267C>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 884016	NM_015087.5(SPART):c.*1187A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 884017	NM_015087.5(SPART):c.*1165A>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 884018	NM_015087.5(SPART):c.*1150A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311750	NM_015087.5(SPART):c.*1014A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 2498581	NM_015087.5(SPART):c.980_982dup	SPART	Duplication (3 prime UTR variant)	not provided	GLikely benign
Select item 884019	NM_015087.5(SPART):c.*980T>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 884020	NM_015087.5(SPART):c.*964C>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311751	NM_015087.5(SPART):c.*924C>A	SPART	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 884021	NM_015087.5(SPART):c.*909A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome +1 more	GBenign
Select item 311752	NM_015087.5(SPART):c.*846G>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome +1 more	GLikely benign
Select item 311753	NM_015087.5(SPART):c.*817A>T	SPART	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 880725	NM_015087.5(SPART):c.*758A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311754	NM_015087.5(SPART):c.*734T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311755	NM_015087.5(SPART):c.*716G>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 880726	NM_015087.5(SPART):c.*715C>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311756	NM_015087.5(SPART):c.*699GTATT[1]	SPART	Microsatellite (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 880727	NM_015087.5(SPART):c.*644G>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311757	NM_015087.5(SPART):c.*624A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome +1 more	GBenign
Select item 311758	NM_015087.5(SPART):c.*608C>T	SPART	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
Select item 311759	NM_015087.5(SPART):c.*524A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome +1 more	GLikely benign
Select item 311760	NM_015087.5(SPART):c.*451G>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GLikely benign
Select item 311761	NM_015087.5(SPART):c.*446T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311762	NM_015087.5(SPART):c.*285del	SPART	Deletion (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 882125	NM_015087.5(SPART):c.*108T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 2174795	NM_015087.5(SPART):c.2001A>T (p.Ter667Cys)	SPART	Single nucleotide variant (stop lost)	not provided	GUncertain significance
Select item 1032654	NM_015087.5(SPART):c.1999T>A (p.Ter667Arg)	SPART	Single nucleotide variant (stop lost)	not provided	GLikely benign
Select item 698221	NM_015087.5(SPART):c.1998A>G (p.Lys666=)	SPART	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1482553	NM_015087.5(SPART):c.1991A>G (p.Lys664Arg)	SPART (K664R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1624137	NM_015087.5(SPART):c.1989G>A (p.Lys663=)	SPART	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1954244	NM_015087.5(SPART):c.1984A>G (p.Lys662Glu)	SPART (K662E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1971978	NM_015087.5(SPART):c.1982C>T (p.Ala661Val)	SPART (A661V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3337621	NM_015087.5(SPART):c.1973del (p.Val658fs)	SPART (V658fs)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 1446055	NM_015087.5(SPART):c.1969_1972del (p.Lys656_Glu657insTer)	SPART	Microsatellite (nonsense)	not provided	GUncertain significance
Select item 311763	NM_015087.5(SPART):c.1964C>T (p.Thr655Met)	SPART (T655M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 311764	NM_015087.5(SPART):c.1954G>A (p.Asp652Asn)	SPART (D652N)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 2038576	NM_015087.5(SPART):c.1944_1945del (p.Lys651fs)	SPART (K651fs)	Microsatellite (frameshift variant)	not provided	GUncertain significance
Select item 409264	NM_015087.5(SPART):c.1939G>A (p.Val647Met)	SPART (V647M)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 699279	NM_015087.5(SPART):c.1938C>T (p.Asn646=)	SPART	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1056084	NM_015087.5(SPART):c.1930A>G (p.Asn644Asp)	SPART (N644D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732534	NM_015087.5(SPART):c.1923A>G (p.Gly641=)	SPART	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 644380	NM_015087.5(SPART):c.1909G>A (p.Glu637Lys)	SPART (E637K)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +2 more	GUncertain significance
Select item 2165059	NM_015087.5(SPART):c.1867A>T (p.Thr623Ser)	SPART (T623S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2024293	NM_015087.5(SPART):c.1863A>G (p.Gly621=)	SPART	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1986396	NM_015087.5(SPART):c.1848_1850del (p.Ala617del)	SPART (A617del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 461205	NM_015087.5(SPART):c.1837G>A (p.Val613Met)	SPART (V613M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2183748	NM_015087.5(SPART):c.1836G>A (p.Met612Ile)	SPART (M612I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 377057	NM_015087.5(SPART):c.1826T>C (p.Ile609Thr)	SPART (I609T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2083155	NM_015087.5(SPART):c.1823G>A (p.Gly608Asp)	SPART (G608D)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1439505	NM_015087.5(SPART):c.1816A>G (p.Asn606Asp)	SPART (N606D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 697045	NM_015087.5(SPART):c.1803C>T (p.Ala601=)	SPART	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 751612	NM_015087.5(SPART):c.1797A>T (p.Val599=)	SPART	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 882126	NM_015087.5(SPART):c.1795G>A (p.Val599Ile)	SPART (V599I)	Single nucleotide variant (missense variant)	Troyer syndrome	GUncertain significance
Select item 696210	NM_015087.5(SPART):c.1795G>T (p.Val599Leu)	SPART (V599L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 546727	NM_015087.5(SPART):c.1794dup (p.Val599fs)	SPART (V599fs)	Duplication (frameshift variant)	not provided	GLikely pathogenic
Select item 2850199	NM_015087.5(SPART):c.1788T>C (p.Asn596=)	SPART	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3065723	NM_015087.5(SPART):c.1787A>T (p.Asn596Ile)	SPART (N596I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2163963	NM_015087.5(SPART):c.1787A>G (p.Asn596Ser)	SPART (N596S)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 461204	NM_015087.5(SPART):c.1782G>A (p.Ala594=)	SPART	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2092638	NM_015087.5(SPART):c.1771G>A (p.Val591Met)	SPART (V591M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1510706	NM_015087.5(SPART):c.1771G>T (p.Val591Leu)	SPART (V591L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1462208	NM_015087.5(SPART):c.1770G>A (p.Ala590=)	SPART	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 512598	NM_015087.5(SPART):c.1769C>T (p.Ala590Val)	SPART (A590V)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 311765	NM_015087.5(SPART):c.1745A>T (p.Asn582Ile)	SPART (N582I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2157218	NM_015087.5(SPART):c.1740A>C (p.Gly580=)	SPART	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2179701	NM_015087.5(SPART):c.1737C>T (p.Tyr579=)	SPART	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1189440	NM_015087.5(SPART):c.1734-158C>T	SPART	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1219583	NM_015087.5(SPART):c.1733+164C>T	SPART	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1237264	NM_015087.5(SPART):c.1733+112G>C	SPART	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1179290	NM_015087.5(SPART):c.1733+67A>G	SPART	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1556118	NM_015087.5(SPART):c.1733+17T>C	SPART	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2157714	NM_015087.5(SPART):c.1733+15A>T	SPART	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1488747	NM_015087.5(SPART):c.1733+2dup	SPART	Duplication (splice donor variant)	not provided	GUncertain significance

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