ClinVar for MedGen (Select 21219) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3067887	NM_002112.4(HDC):c.32-2A>G	HDC	Single nucleotide variant (splice acceptor variant)	Tourette syndrome	GLikely pathogenic
Select item 3064496	NM_002112.4(HDC):c.1133T>G (p.Val378Gly)	HDC (V378G)	Single nucleotide variant (missense variant +1 more)	Tourette syndrome	GUncertain significance
Select item 2499585	NM_001407.3(CELSR3):c.5634+1G>T	CELSR3	Single nucleotide variant (splice donor variant)	Tourette syndrome	GUncertain significance
Select item 1344624	NM_001407.3(CELSR3):c.8765G>A (p.Arg2922His)	CELSR3 (R2922H)	Single nucleotide variant (missense variant)	Tourette syndrome	GLikely risk allele
Select item 1344622	NM_001407.3(CELSR3):c.7853C>T (p.Ala2618Val)	CELSR3 (A2618V)	Single nucleotide variant (missense variant)	Tourette syndrome	GLikely risk allele
Select item 1334050	NM_001281503.2(SLITRK1):c.341A>G (p.Asn114Ser)	SLITRK1 (N114S)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance
Select item 1333882	NM_002112.4(HDC):c.1568T>A (p.Ile523Asn)	HDC (I490N +1 more)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance
Select item 1225855	NM_001407.3(CELSR3):c.2414G>C (p.Ser805Thr)	CELSR3 (S805T)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1033484	NM_002112.4(HDC):c.1511C>A (p.Thr504Lys)	HDC (T471K +1 more)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance
Select item 883424	NM_001281503.2(SLITRK1):c.-54+13C>T	SLITRK1	Single nucleotide variant (5 prime UTR variant +1 more)	Tourette syndrome	GUncertain significance
Select item 883423	NM_001281503.2(SLITRK1):c.-54+148G>A	SLITRK1	Single nucleotide variant (5 prime UTR variant +1 more)	Tourette syndrome	GUncertain significance
Select item 883422	NM_001281503.2(SLITRK1):c.-54+153C>T	SLITRK1	Single nucleotide variant (5 prime UTR variant +1 more)	Tourette syndrome	GUncertain significance
Select item 883421	NM_001281503.2(SLITRK1):c.-53-217T>C	SLITRK1	Single nucleotide variant (5 prime UTR variant +1 more)	Tourette syndrome	GLikely benign
Select item 883382	NM_001281503.2(SLITRK1):c.2010T>C (p.Ser670=)	SLITRK1	Single nucleotide variant (synonymous variant)	Tourette syndrome	GUncertain significance
Select item 883381	NM_001281503.2(SLITRK1):c.*30G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 883380	NM_001281503.2(SLITRK1):c.*39T>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 883379	NM_001281503.2(SLITRK1):c.*98C>T	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 883334	NM_001281503.2(SLITRK1):c.*1235G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 883333	NM_001281503.2(SLITRK1):c.*1292G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882649	NM_001281503.2(SLITRK1):c.21G>T (p.Leu7Phe)	SLITRK1 (L7F)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance
Select item 882648	NM_001281503.2(SLITRK1):c.195G>A (p.Leu65=)	SLITRK1	Single nucleotide variant (synonymous variant)	Tourette syndrome	GUncertain significance
Select item 882647	NM_001281503.2(SLITRK1):c.465G>A (p.Lys155=)	SLITRK1	Single nucleotide variant (synonymous variant)	Tourette syndrome	GUncertain significance
Select item 882600	NM_001281503.2(SLITRK1):c.*260A>G	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882599	NM_001281503.2(SLITRK1):c.*282G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882598	NM_001281503.2(SLITRK1):c.*471T>C	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882554	NM_001281503.2(SLITRK1):c.*1666C>T	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882553	NM_001281503.2(SLITRK1):c.*1718A>C	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882552	NM_001281503.2(SLITRK1):c.*1722A>C	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882551	NM_001281503.2(SLITRK1):c.*1738C>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882550	NM_001281503.2(SLITRK1):c.*1742T>G	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882549	NM_001281503.2(SLITRK1):c.*1785A>G	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882383	NM_001281503.2(SLITRK1):c.1028G>A (p.Gly343Glu)	SLITRK1 (G343E)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance
Select item 882382	NM_001281503.2(SLITRK1):c.1129G>A (p.Val377Met)	SLITRK1 (V377M)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance
Select item 882381	NM_001281503.2(SLITRK1):c.1405G>A (p.Ala469Thr)	SLITRK1 (A469T)	Single nucleotide variant (missense variant)	Tourette syndrome +1 more	GUncertain significance
Select item 882331	NM_001281503.2(SLITRK1):c.*749T>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882330	NM_001281503.2(SLITRK1):c.*843G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882329	NM_001281503.2(SLITRK1):c.*865T>C	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 882284	NM_001281503.2(SLITRK1):c.*1963C>T	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GLikely benign
Select item 882283	NM_001281503.2(SLITRK1):c.*2088G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 881528	NM_001281503.2(SLITRK1):c.-391A>C	SLITRK1	Single nucleotide variant (5 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 881527	NM_001281503.2(SLITRK1):c.-375G>C	SLITRK1	Single nucleotide variant (5 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 881029	NM_001281503.2(SLITRK1):c.1651G>A (p.Val551Met)	SLITRK1 (V551M)	Single nucleotide variant (missense variant)	Tourette syndrome +1 more	GUncertain significance
Select item 881028	NM_001281503.2(SLITRK1):c.1751G>A (p.Arg584Lys)	SLITRK1 (R584K)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance
Select item 881027	NM_001281503.2(SLITRK1):c.1917C>T (p.Leu639=)	SLITRK1	Single nucleotide variant (synonymous variant)	Tourette syndrome	GUncertain significance
Select item 881026	NM_001281503.2(SLITRK1):c.1954C>A (p.Arg652=)	SLITRK1	Single nucleotide variant (synonymous variant)	Tourette syndrome	GUncertain significance
Select item 880970	NM_001281503.2(SLITRK1):c.*888T>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 880969	NM_001281503.2(SLITRK1):c.*930G>T	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 880968	NM_001281503.2(SLITRK1):c.*1092G>T	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 880967	NM_001281503.2(SLITRK1):c.*1097A>G	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 880920	NM_001281503.2(SLITRK1):c.*2207C>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 786242	NM_001281503.2(SLITRK1):c.1971C>G (p.Ser657=)	SLITRK1	Single nucleotide variant (synonymous variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 739922	NM_001281503.2(SLITRK1):c.438C>A (p.Asp146Glu)	SLITRK1 (D146E)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 720611	NM_001281503.2(SLITRK1):c.988T>G (p.Ser330Ala)	SLITRK1 (S330A)	Single nucleotide variant (missense variant)	Tourette syndrome +1 more	GBenign/Likely benign
Select item 695090	NM_006940.6(SOX5):c.703C>T (p.Arg235Cys)	SOX5 (R235C +3 more)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance
Select item 312528	NM_001281503.2(SLITRK1):c.-410C>G	SLITRK1	Single nucleotide variant (5 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312527	NM_001281503.2(SLITRK1):c.-301dup	SLITRK1	Duplication (5 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312526	NM_001281503.2(SLITRK1):c.-286G>C	SLITRK1	Single nucleotide variant (5 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312525	NM_001281503.2(SLITRK1):c.-254C>T	SLITRK1	Single nucleotide variant (5 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312524	NM_001281503.2(SLITRK1):c.-253A>G	SLITRK1	Single nucleotide variant (5 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312523	NM_001281503.2(SLITRK1):c.-211G>A	SLITRK1	Single nucleotide variant (5 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312522	NM_001281503.2(SLITRK1):c.-148G>A	SLITRK1	Single nucleotide variant (5 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312521	NM_001281503.2(SLITRK1):c.-146A>G	SLITRK1	Single nucleotide variant (5 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312520	NM_001281503.2(SLITRK1):c.-141T>G	SLITRK1	Single nucleotide variant (5 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312519	NM_001281503.2(SLITRK1):c.-108A>G	SLITRK1	Single nucleotide variant (5 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312518	NM_001281503.2(SLITRK1):c.-93A>T	SLITRK1	Single nucleotide variant (5 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312517	NM_001281503.2(SLITRK1):c.-88C>G	SLITRK1	Single nucleotide variant (5 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312516	NM_001281503.2(SLITRK1):c.-54+219G>A	SLITRK1	Single nucleotide variant (5 prime UTR variant +1 more)	Tourette syndrome	GUncertain significance
Select item 312515	NM_001281503.2(SLITRK1):c.-53-217del	SLITRK1	Deletion (5 prime UTR variant +1 more)	Tourette syndrome	GUncertain significance
Select item 312514	NM_001281503.2(SLITRK1):c.-53-213del	SLITRK1	Deletion (5 prime UTR variant +1 more)	Tourette syndrome	GUncertain significance
Select item 312513	NM_001281503.2(SLITRK1):c.-53-211dup	SLITRK1	Duplication (5 prime UTR variant +1 more)	Tourette syndrome	GUncertain significance
Select item 312512	NM_001281503.2(SLITRK1):c.-53-191del	SLITRK1	Deletion (5 prime UTR variant +1 more)	Tourette syndrome	GUncertain significance
Select item 312511	NM_001281503.2(SLITRK1):c.-53-190_-53-189dup	SLITRK1	Duplication (5 prime UTR variant +1 more)	Tourette syndrome	GUncertain significance
Select item 312510	NM_001281503.2(SLITRK1):c.-53-190dup	SLITRK1	Duplication (5 prime UTR variant +1 more)	Tourette syndrome	GUncertain significance
Select item 312509	NM_001281503.2(SLITRK1):c.-53-187del	SLITRK1	Deletion (5 prime UTR variant +1 more)	Tourette syndrome	GUncertain significance
Select item 312508	NM_001281503.2(SLITRK1):c.-53-187dup	SLITRK1	Duplication (5 prime UTR variant +1 more)	Tourette syndrome	GUncertain significance
Select item 312507	NM_001281503.2(SLITRK1):c.-53-125A>G	SLITRK1	Single nucleotide variant (5 prime UTR variant +1 more)	Tourette syndrome	GUncertain significance
Select item 312506	NM_001281503.2(SLITRK1):c.-53-17G>C	SLITRK1	Single nucleotide variant (5 prime UTR variant +1 more)	Tourette syndrome	GUncertain significance
Select item 312505	NM_001281503.2(SLITRK1):c.117C>T (p.His39=)	SLITRK1	Single nucleotide variant (synonymous variant)	Tourette syndrome	GUncertain significance
Select item 312504	NM_001281503.2(SLITRK1):c.294T>C (p.Val98=)	SLITRK1	Single nucleotide variant (synonymous variant)	Tourette syndrome	GUncertain significance
Select item 312503	NM_001281503.2(SLITRK1):c.913C>G (p.Pro305Ala)	SLITRK1 (P305A)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance
Select item 312502	NM_001281503.2(SLITRK1):c.1094G>A (p.Ser365Asn)	SLITRK1 (S365N)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance
Select item 312501	NM_001281503.2(SLITRK1):c.1122C>T (p.Leu374=)	SLITRK1	Single nucleotide variant (synonymous variant)	Tourette syndrome	GUncertain significance
Select item 312500	NM_001281503.2(SLITRK1):c.1492A>G (p.Lys498Glu)	SLITRK1 (K498E)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance
Select item 312499	NM_001281503.2(SLITRK1):c.1538G>A (p.Gly513Glu)	SLITRK1 (G513E)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance
Select item 312498	NM_001281503.2(SLITRK1):c.1969T>C (p.Ser657Pro)	SLITRK1 (S657P)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance
Select item 312497	NM_001281503.2(SLITRK1):c.2035A>C (p.Asn679His)	SLITRK1 (N679H)	Single nucleotide variant (missense variant)	Tourette syndrome	GUncertain significance
Select item 312496	NM_001281503.2(SLITRK1):c.*23G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312495	NM_001281503.2(SLITRK1):c.*67G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312494	NM_001281503.2(SLITRK1):c.*167C>G	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312493	NM_001281503.2(SLITRK1):c.*230T>G	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312492	NM_001281503.2(SLITRK1):c.*544C>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312491	NM_001281503.2(SLITRK1):c.*575C>T	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312490	NM_001281503.2(SLITRK1):c.*649A>G	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GLikely benign
Select item 312489	NM_001281503.2(SLITRK1):c.*761G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312488	NM_001281503.2(SLITRK1):c.*801A>C	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GLikely benign
Select item 312487	NM_001281503.2(SLITRK1):c.*854ATTTT[2]	SLITRK1	Microsatellite (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312486	NM_001281503.2(SLITRK1):c.*1017G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312485	NM_001281503.2(SLITRK1):c.*1030G>A	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GUncertain significance
Select item 312484	NM_001281503.2(SLITRK1):c.*1134T>C	SLITRK1	Single nucleotide variant (3 prime UTR variant)	Tourette syndrome	GLikely benign
Select item 312483	NM_001281503.2(SLITRK1):c.*1149dup	SLITRK1	Duplication (3 prime UTR variant)	Tourette syndrome	GUncertain significance

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