ClinVar for MedGen (Select 1731112) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341475	NM_000113.3(TOR1A):c.287_288del (p.Leu96fs)	TOR1A (L96fs)	Microsatellite (frameshift variant)	Arthrogryposis multiplex congenita 5	GLikely pathogenic
Select item 2445982	NM_000113.3(TOR1A):c.844C>T (p.Arg282Ter)	TOR1A (R282*)	Single nucleotide variant (nonsense)	Arthrogryposis multiplex congenita 5	GLikely pathogenic
Select item 2242340	NM_000113.3(TOR1A):c.304G>A (p.Gly102Arg)	TOR1A (G102R)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1694449	NM_000113.3(TOR1A):c.927A>C (p.Lys309Asn)	TOR1A (K309N)	Single nucleotide variant (missense variant)	Early-onset generalized limb-onset dystonia +1 more	GLikely benign
Select item 1683721	NM_000113.3(TOR1A):c.20T>G (p.Val7Gly)	LOC130002772, TOR1A (V7G)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 5	GUncertain significance
Select item 1212505	NM_000113.3(TOR1A):c.719T>C (p.Leu240Ser)	TOR1A (L240S)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 5 +2 more	GUncertain significance
Select item 974680	NM_000113.3(TOR1A):c.961del (p.Thr321fs)	TOR1A (T321fs)	Deletion (frameshift variant)	Inborn genetic diseases	GLikely pathogenic
Select item 974679	NM_000113.3(TOR1A):c.952G>A (p.Gly318Ser)	TOR1A (G318S)	Single nucleotide variant (missense variant)	Arthrogryposis multiplex congenita 5	GPathogenic
Select item 559927	NM_000113.3(TOR1A):c.862C>T (p.Arg288Ter)	TOR1A (R288*)	Single nucleotide variant (nonsense)	not provided +2 more	GPathogenic/Likely pathogenic
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 5182	NM_000113.3(TOR1A):c.646G>C (p.Asp216His)	TOR1A (D216H)	Single nucleotide variant (missense variant)	not provided +4 more	GBenign
Select item 5180	NM_000113.3(TOR1A):c.904GAG[1] (p.Glu303del)	TOR1A (E303del)	Microsatellite (inframe_deletion)	Inborn genetic diseases +5 more	GConflicting classifications of pathogenicity