ClinVar for MedGen (Select 97950) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2503433	NM_015087.5(SPART):c.1643-2A>G	SPART	Single nucleotide variant (splice acceptor variant)	Troyer syndrome	GLikely pathogenic
Select item 2436272	NM_015087.5(SPART):c.389A>T (p.Gln130Leu)	SPART (Q130L)	Single nucleotide variant (missense variant)	Troyer syndrome	GUncertain significance
Select item 1878642	NM_015087.5(SPART):c.696dup (p.Val233fs)	SPART (V233fs)	Duplication (frameshift variant)	Troyer syndrome +1 more	GPathogenic/Likely pathogenic
Select item 1687408	NM_015087.5(SPART):c.894_898del (p.Met299fs)	SPART (M299fs)	Deletion (frameshift variant)	Troyer syndrome	GPathogenic
Select item 1339517	NM_015087.5(SPART):c.988A>G (p.Met330Val)	SPART (M330V)	Single nucleotide variant (missense variant)	Troyer syndrome	GConflicting classifications of pathogenicity
Select item 1333334	NM_015087.5(SPART):c.592G>T (p.Gly198Ter)	SPART (G198*)	Single nucleotide variant (nonsense)	Troyer syndrome	GLikely pathogenic
Select item 1301716	NM_015087.5(SPART):c.466C>T (p.Pro156Ser)	SPART (P156S)	Single nucleotide variant (missense variant)	not provided +2 more	GUncertain significance
Select item 1070060	NM_015087.5(SPART):c.1294del (p.Ser432fs)	SPART (S432fs)	Deletion (frameshift variant)	not provided +1 more	GPathogenic
Select item 1032653	NM_015087.5(SPART):c.1399G>A (p.Val467Met)	SPART (V467M)	Single nucleotide variant (missense variant)	Troyer syndrome	GUncertain significance
Select item 989199	NM_015087.5(SPART):c.1474_1477del (p.Gln492fs)	SPART (Q492fs)	Microsatellite (frameshift variant)	not provided +1 more	GPathogenic
Select item 884081	NM_015087.5(SPART):c.552T>C (p.Thr184=)	SPART	Single nucleotide variant (synonymous variant)	Troyer syndrome	GUncertain significance
Select item 884080	NM_015087.5(SPART):c.810+6C>T	SPART	Single nucleotide variant (intron variant)	Troyer syndrome	GUncertain significance
Select item 884079	NM_015087.5(SPART):c.1093T>C (p.Ser365Pro)	SPART (S365P)	Single nucleotide variant (missense variant)	Troyer syndrome	GUncertain significance
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 884020	NM_015087.5(SPART):c.*964C>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 884019	NM_015087.5(SPART):c.*980T>G	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 884017	NM_015087.5(SPART):c.*1165A>C	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 883952	NM_015087.5(SPART):c.*2456T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 883951	NM_015087.5(SPART):c.*2717C>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 883274	NM_015087.5(SPART):c.1203C>T (p.His401=)	SPART	Single nucleotide variant (synonymous variant)	Troyer syndrome	GUncertain significance
Select item 883273	NM_015087.5(SPART):c.1624G>A (p.Ala542Thr)	SPART (A542T)	Single nucleotide variant (missense 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 883222	NM_015087.5(SPART):c.*1624C>T	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 883220	NM_015087.5(SPART):c.*1686G>A	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 882126	NM_015087.5(SPART):c.1795G>A (p.Val599Ile)	SPART (V599I)	Single nucleotide variant (missense 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 882075	NM_015087.5(SPART):c.*1847G>C	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 882073	NM_015087.5(SPART):c.*2023T>A	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 882071	NM_015087.5(SPART):c.*2053C>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 880793	NM_015087.5(SPART):c.123A>C (p.Glu41Asp)	SPART (E41D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 880792	NM_015087.5(SPART):c.292G>A (p.Gly98Ser)	SPART (G98S)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 880791	NM_015087.5(SPART):c.450A>G (p.Ala150=)	SPART	Single nucleotide variant (synonymous 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 880726	NM_015087.5(SPART):c.*715C>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 880725	NM_015087.5(SPART):c.*758A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 880663	NM_015087.5(SPART):c.*2071T>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 631700	NM_015087.5(SPART):c.475_476del (p.Leu159fs)	SPART (L159fs)	Microsatellite (frameshift variant)	not provided +1 more	GConflicting classifications of pathogenicity
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 512580	NM_015087.5(SPART):c.-8G>A	SPART	Single nucleotide variant (5 prime UTR variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 461201	NM_015087.5(SPART):c.1227A>G (p.Pro409=)	SPART	Single nucleotide variant (synonymous variant)	Troyer syndrome	GLikely benign
Select item 461200	NM_015087.5(SPART):c.1130A>T (p.Lys377Met)	SPART (K377M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 409265	NM_015087.5(SPART):c.560A>G (p.Tyr187Cys)	SPART (Y187C)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 380930	NM_015087.5(SPART):c.363C>T (p.Asp121=)	SPART	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 379832	NM_015087.5(SPART):c.1369C>T (p.Arg457Ter)	SPART (R457*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic
Select item 311777	NM_015087.4(SPART):c.-261T>G	SPART, SPART-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Troyer syndrome	GUncertain significance
Select item 311776	NM_015087.4(SPART):c.-253G>A	SPART, SPART-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Troyer syndrome +1 more	GBenign/Likely benign
Select item 311775	NM_015087.4(SPART):c.-249_-248TG[1]	SPART, SPART-AS1	Microsatellite (non-coding transcript variant +1 more)	Troyer syndrome	GUncertain significance
Select item 311774	NM_015087.5(SPART):c.-145G>A	SPART	Single nucleotide variant (5 prime UTR variant +1 more)	Troyer syndrome +1 more	GBenign/Likely benign
Select item 311773	NM_015087.5(SPART):c.-118C>A	SPART	Single nucleotide variant (5 prime UTR variant +1 more)	Troyer syndrome	GUncertain significance
Select item 311772	NM_015087.5(SPART):c.-33C>T	LOC130009569, SPART	Single nucleotide variant (5 prime UTR variant +1 more)	Troyer syndrome	GUncertain significance
Select item 311771	NM_015087.5(SPART):c.360A>G (p.Lys120=)	SPART	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 311770	NM_015087.5(SPART):c.627G>A (p.Pro209=)	SPART	Single nucleotide variant (synonymous variant)	Troyer syndrome +1 more	GConflicting classifications of pathogenicity
Select item 311769	NM_015087.5(SPART):c.686A>G (p.Gln229Arg)	SPART (Q229R)	Single nucleotide variant (missense variant)	Troyer syndrome	GUncertain significance
Select item 311768	NM_015087.5(SPART):c.852G>A (p.Pro284=)	SPART	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 311767	NM_015087.5(SPART):c.1414G>T (p.Ala472Ser)	SPART (A472S)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 311766	NM_015087.5(SPART):c.1470C>T (p.Val490=)	SPART	Single nucleotide variant (synonymous variant)	Troyer syndrome	GUncertain significance
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 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 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 311762	NM_015087.5(SPART):c.*285del	SPART	Deletion (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311761	NM_015087.5(SPART):c.*446T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311760	NM_015087.5(SPART):c.*451G>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	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 311758	NM_015087.5(SPART):c.*608C>T	SPART	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GLikely benign
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 311756	NM_015087.5(SPART):c.*699GTATT[1]	SPART	Microsatellite (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 311754	NM_015087.5(SPART):c.*734T>C	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
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 311752	NM_015087.5(SPART):c.*846G>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome +1 more	GLikely benign
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 311750	NM_015087.5(SPART):c.*1014A>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 311748	NM_015087.5(SPART):c.*1550A>G	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311747	NM_015087.5(SPART):c.*1794A>G	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 311745	NM_015087.5(SPART):c.*1848A>C	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 311743	NM_015087.5(SPART):c.*2123T>C	SPART	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 311742	NM_015087.5(SPART):c.2127_2130del	SPART	Deletion (3 prime UTR variant)	Troyer syndrome	GLikely benign
Select item 311741	NM_015087.5(SPART):c.2150_2154del	SPART	Deletion (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 311739	NM_015087.5(SPART):c.*2256G>A	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 311738	NM_015087.5(SPART):c.*2299T>C	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 311736	NM_015087.5(SPART):c.*2454A>T	SPART	Single nucleotide variant (3 prime UTR variant)	Troyer syndrome	GUncertain significance
Select item 240962	NM_015087.5(SPART):c.1155T>G (p.Arg385=)	SPART	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 216688	NM_015087.5(SPART):c.361G>T (p.Asp121Tyr)	SPART (D121Y)	Single nucleotide variant (missense variant)	Hereditary spastic paraplegia +3 more	GConflicting classifications of pathogenicity
Select item 216687	NM_015087.5(SPART):c.1172A>G (p.Asp391Gly)	SPART (D391G)	Single nucleotide variant (missense variant)	not specified +4 more	GConflicting classifications of pathogenicity
Select item 215884	NM_015087.5(SPART):c.75A>G (p.Leu25=)	SPART	Single nucleotide variant (synonymous variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 183277	NM_015087.5(SPART):c.1450dup (p.Thr484fs)	SPART (T484fs)	Duplication (frameshift variant)	Troyer syndrome	GPathogenic
Select item 130368	NM_015087.5(SPART):c.1629A>G (p.Ala543=)	SPART	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 126425	NC_000004.11:g.92981313_93256907del	LOC126807111, GRID2 +2 more	Deletion	Troyer syndrome	GUncertain significance

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