"PreventionGenetics, part of Exact Sciences"[submitter] AND "TYK2"[gen - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 137869	NM_003331.5(TYK2):c.3310C>G (p.Pro1104Ala)	TYK2 (P1104A)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign/Likely benign
Select item 3029253	NM_003331.5(TYK2):c.3237C>T (p.Tyr1079=)	TYK2	Single nucleotide variant (synonymous variant +1 more)	TYK2-related disorder	GLikely benign
Select item 259044	NM_003331.5(TYK2):c.3201-8C>T	TYK2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1570695	NM_003331.5(TYK2):c.3096C>T (p.Asp1032=)	TYK2	Single nucleotide variant (synonymous variant)	TYK2-related disorder +1 more	GLikely benign
Select item 2637365	NM_003331.5(TYK2):c.3004C>T (p.Leu1002Phe)	TYK2 (L1001F +9 more)	Single nucleotide variant (missense variant)	TYK2-related disorder	GUncertain significance
Select item 327937	NM_003331.5(TYK2):c.2715+9C>T	TYK2	Single nucleotide variant (intron variant)	TYK2-related disorder +1 more	GConflicting classifications of pathogenicity
Select item 1896334	NM_003331.5(TYK2):c.2655G>A (p.Pro885=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35 +1 more	GLikely benign
Select item 137868	NM_003331.5(TYK2):c.2311+11G>C	TYK2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 1054217	NM_003331.5(TYK2):c.2230C>A (p.Arg744=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35 +1 more	GLikely benign
Select item 259043	NM_003331.5(TYK2):c.2051T>G (p.Ile684Ser)	TYK2 (I684S)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 2197875	NM_003331.5(TYK2):c.2016C>T (p.Phe672=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35 +1 more	GLikely benign
Select item 1657230	NM_003331.5(TYK2):c.2004G>A (p.Thr668=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35 +1 more	GLikely benign
Select item 259042	NM_003331.5(TYK2):c.1953C>T (p.Ile651=)	TYK2	Single nucleotide variant (synonymous variant)	not specified +2 more	GBenign
Select item 1105971	NM_003331.5(TYK2):c.1773+10G>C	TYK2	Single nucleotide variant (intron variant)	TYK2-related disorder +1 more	GLikely benign
Select item 259041	NM_003331.5(TYK2):c.1669+7T>C	TYK2	Single nucleotide variant (intron variant)	not specified +2 more	GBenign
Select item 327949	NM_003331.5(TYK2):c.1534G>A (p.Gly512Arg)	TYK2 (G512R)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 137865	NM_003331.5(TYK2):c.1477-6T>C	TYK2	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
Select item 741934	NM_003331.5(TYK2):c.1401G>A (p.Glu467=)	TYK2	Single nucleotide variant (synonymous variant)	TYK2-related disorder +1 more	GLikely benign
Select item 743841	NM_003331.5(TYK2):c.1362C>G (p.Pro454=)	TYK2	Single nucleotide variant (synonymous variant)	not provided +2 more	GLikely benign
Select item 137864	NM_003331.5(TYK2):c.1087G>A (p.Gly363Ser)	TYK2 (G363S)	Single nucleotide variant (missense variant)	not specified +1 more	GBenign
Select item 259040	NM_003331.5(TYK2):c.1084G>T (p.Val362Phe)	TYK2 (V362F)	Single nucleotide variant (missense variant)	not specified +2 more	GBenign
Select item 3021493	NM_003331.5(TYK2):c.630-6C>T	TYK2	Single nucleotide variant (intron variant)	Immunodeficiency 35 +1 more	GLikely benign
Select item 571990	NM_003331.5(TYK2):c.589C>T (p.Arg197Cys)	TYK2 (R197C)	Single nucleotide variant (missense variant)	TYK2-related disorder +1 more	GUncertain significance
Select item 259045	NM_003331.5(TYK2):c.588C>A (p.Leu196=)	TYK2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3030478	NM_003331.5(TYK2):c.468C>T (p.Gly156=)	TYK2	Single nucleotide variant (synonymous variant)	TYK2-related disorder	GLikely benign
Select item 648186	NM_003331.5(TYK2):c.437C>T (p.Pro146Leu)	TYK2 (P146L)	Single nucleotide variant (missense variant)	TYK2-related disorder +1 more	GUncertain significance
Select item 892067	NM_003331.5(TYK2):c.372T>C (p.Arg124=)	TYK2	Single nucleotide variant (synonymous variant)	Immunodeficiency 35 +1 more	GConflicting classifications of pathogenicity
Select item 2085219	NM_003331.5(TYK2):c.352C>T (p.Arg118Trp)	TYK2 (R118W)	Single nucleotide variant (missense variant)	Immunodeficiency 35 +1 more	GUncertain significance

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Items: 28