ClinVar for MedGen (Select 338823) - ClinVar

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Items: 64

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1694449	NM_000113.3(TOR1A):c.927A>C (p.Lys309Asn)	TOR1A (K309N)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 5 +1 more	GLikely benign
Select item 1686267	NM_000113.3(TOR1A):c.461G>A (p.Trp154Ter)	TOR1A (W154*)	Single nucleotide variant (nonsense)	Early-onset generalized limb-onset dystonia	GPathogenic
Select item 1686266	NM_000113.3(TOR1A):c.958A>G (p.Lys320Glu)	TOR1A (K320E)	Single nucleotide variant (missense variant)	Early-onset generalized limb-onset dystonia	GPathogenic
Select item 1172768	NM_000113.3(TOR1A):c.214C>T (p.Gln72Ter)	TOR1A (Q72*)	Single nucleotide variant (nonsense)	Early-onset generalized limb-onset dystonia	GPathogenic
Select item 1028074	NM_000113.3(TOR1A):c.620+3A>T	TOR1A	Single nucleotide variant (intron variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 914639	NM_000113.3(TOR1A):c.*832G>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 914638	NM_000113.3(TOR1A):c.*879C>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 914637	NM_000113.3(TOR1A):c.*930T>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GLikely benign
Select item 914177	NM_000113.3(TOR1A):c.369T>C (p.Gly123=)	TOR1A	Single nucleotide variant (synonymous variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 914176	NM_000113.3(TOR1A):c.707T>C (p.Ile236Thr)	TOR1A (I236T)	Single nucleotide variant (missense variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 914175	NM_000113.3(TOR1A):c.748+10G>A	TOR1A	Single nucleotide variant (intron variant)	Early-onset generalized limb-onset dystonia +1 more	GLikely benign
Select item 914135	NM_000113.3(TOR1A):c.*948C>T	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GBenign
Select item 914134	NM_000113.3(TOR1A):c.*997G>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 913782	NM_000113.3(TOR1A):c.962C>T (p.Thr321Met)	TOR1A (T321M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 913781	NM_000113.3(TOR1A):c.*108G>C	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 913780	NM_000113.3(TOR1A):c.*165G>T	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 912677	NM_000113.3(TOR1A):c.*193G>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia +1 more	GBenign/Likely benign
Select item 912676	NM_000113.3(TOR1A):c.*201G>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 816839	NM_000113.3(TOR1A):c.506T>C (p.Phe169Ser)	TOR1A (F169S)	Single nucleotide variant (missense variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 695881	NM_000113.3(TOR1A):c.561C>T (p.Leu187=)	TOR1A	Single nucleotide variant (synonymous variant)	not provided +2 more	GBenign/Likely benign
Select item 695773	NM_000113.3(TOR1A):c.823A>G (p.Lys275Glu)	TOR1A (K275E)	Single nucleotide variant (missense variant)	Early-onset generalized limb-onset dystonia +3 more	GConflicting classifications of pathogenicity
Select item 559927	NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter)	TOR1A (R288*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 5 +2 more	GPathogenic/Likely pathogenic
Select item 408885	NM_000113.3(TOR1A):c.488C>T (p.Ala163Val)	TOR1A (A163V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 365238	NM_000113.2(TOR1A):c.-52T>G	LOC130002772, TOR1A	Single nucleotide variant	not provided +1 more	GBenign/Likely benign
Select item 365237	NM_000113.3(TOR1A):c.-36C>T	LOC130002772, TOR1A	Single nucleotide variant (5 prime UTR variant)	Early-onset generalized limb-onset dystonia	GBenign
Select item 365236	NM_000113.3(TOR1A):c.-31C>A	LOC130002772, TOR1A	Single nucleotide variant (5 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365235	NM_000113.3(TOR1A):c.-4G>C	TOR1A, LOC130002772	Single nucleotide variant (5 prime UTR variant)	not provided +1 more	GUncertain significance
Select item 365234	NM_000113.3(TOR1A):c.26G>C (p.Gly9Ala)	LOC130002772, TOR1A (G9A)	Single nucleotide variant (missense variant)	Dystonic disorder +2 more	GBenign/Likely benign
Select item 365233	NM_000113.3(TOR1A):c.300G>A (p.Leu100=)	TOR1A	Single nucleotide variant (synonymous variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365232	NM_000113.3(TOR1A):c.*112G>C	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GLikely benign
Select item 365231	NM_000113.3(TOR1A):c.*149G>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365230	NM_000113.3(TOR1A):c.*165G>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365229	NM_000113.3(TOR1A):c.*191G>T	TOR1A	Single nucleotide variant (3 prime UTR variant)	Dystonic disorder +2 more	GBenign
Select item 365228	NM_000113.3(TOR1A):c.*214C>G	TOR1A	Single nucleotide variant (3 prime UTR variant)	not provided +1 more	GBenign
Select item 365227	NM_000113.3(TOR1A):c.*216C>T	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365226	NM_000113.3(TOR1A):c.*345C>T	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365225	NM_000113.3(TOR1A):c.*414G>T	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GBenign
Select item 365224	NM_000113.3(TOR1A):c.*414del	TOR1A	Deletion (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GLikely benign
Select item 365223	NM_000113.3(TOR1A):c.*416T>G	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GBenign
Select item 365222	NM_000113.3(TOR1A):c.415_416insG	TOR1A	Insertion (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GLikely benign
Select item 365221	NM_000113.3(TOR1A):c.*423del	TOR1A	Deletion (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GLikely benign
Select item 365220	NM_000113.3(TOR1A):c.*454T>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GBenign
Select item 365219	NM_000113.3(TOR1A):c.*623C>T	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365218	NM_000113.3(TOR1A):c.*785G>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365217	NM_000113.3(TOR1A):c.*812C>G	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365216	NM_000113.3(TOR1A):c.*824del	TOR1A	Deletion (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GLikely benign
Select item 365215	NM_000113.3(TOR1A):c.*831C>T	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GBenign
Select item 365214	NM_000113.3(TOR1A):c.*895ATT[1]	TOR1A	Microsatellite (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365213	NM_000113.3(TOR1A):c.*934A>G	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 365212	NM_000113.3(TOR1A):c.*961T>A	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GBenign
Select item 365211	NM_000113.3(TOR1A):c.*1002C>T	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GBenign
Select item 365210	NM_000113.3(TOR1A):c.*1010A>G	TOR1A	Single nucleotide variant (3 prime UTR variant)	Early-onset generalized limb-onset dystonia	GUncertain significance
Select item 268215	NM_000113.3(TOR1A):c.581A>T (p.Asp194Val)	TOR1A (D194V)	Single nucleotide variant (missense variant)	Early-onset generalized limb-onset dystonia	Gnot provided
Select item 268214	NM_000113.3(TOR1A):c.385G>A (p.Val129Ile)	TOR1A (V129I)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 5 +1 more	GUncertain significance
Select item 268213	NM_000113.3(TOR1A):c.361G>A (p.Glu121Lys)	TOR1A (E121K)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GConflicting classifications of pathogenicity
Select item 268212	NM_000113.3(TOR1A):c.40_45del (p.Ala14_Pro15del)	LOC130002772, TOR1A	Deletion (inframe_deletion)	Early-onset generalized limb-onset dystonia	Gnot provided
Select item 255137	NM_000113.3(TOR1A):c.749-11C>A	TOR1A	Single nucleotide variant (intron variant)	not specified +3 more	GBenign
Select item 255134	NM_000113.3(TOR1A):c.246C>T (p.Ala82=)	TOR1A	Single nucleotide variant (synonymous variant)	not specified +3 more	GBenign
Select item 162491	NM_000113.3(TOR1A):c.863G>A (p.Arg288Gln)	TOR1A (R288Q)	Single nucleotide variant (missense variant)	Dystonic disorder +1 more	GPathogenic/Likely pathogenic
Select item 21053	NM_000113.3(TOR1A):c.934_937del (p.Arg312fs)	TOR1A (R312fs)	Microsatellite (frameshift variant)	Early-onset generalized limb-onset dystonia	Gnot provided
Select item 18438	NM_000113.3(TOR1A):c.613T>A (p.Phe205Ile)	TOR1A (F205I)	Single nucleotide variant (missense variant)	not provided +3 more	GConflicting classifications of pathogenicity
Select item 5182	NM_000113.3(TOR1A):c.646G>C (p.Asp216His)	TOR1A (D216H)	Single nucleotide variant (missense variant)	not specified +4 more	GBenign
Select item 5181	NM_000113.3(TOR1A):c.966_983del (p.Phe323_Tyr328del)	TOR1A	Deletion (inframe_deletion)	Dystonia, early-onset atypical, with myoclonic features	GUncertain significance
Select item 5180	NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)	TOR1A (E303del)	Microsatellite (inframe_deletion)	TOR1A-related condition +6 more	GPathogenic/Likely pathogenic

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Links from MedGen

Items: 64