ClinVar for MedGen (Select 1805285) - ClinVar - NCBI

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Items: 8

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376338	NM_138636.5(TLR8):c.91T>C (p.Ser31Pro)	TLR8, TLR8-AS1 (S31P +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 98 with autoinflammation, X-linked	GUncertain significance
Select item 3341294	NM_138636.5(TLR8):c.328C>G (p.Gln110Glu)	TLR8, TLR8-AS1 (Q110E +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 98 with autoinflammation, X-linked	GUncertain significance
Select item 3065821	NM_138636.5(TLR8):c.3029C>G (p.Ala1010Gly)	TLR8, TLR8-AS1 (A1010G +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 98 with autoinflammation, X-linked	GUncertain significance
Select item 1339649	NM_138636.5(TLR8):c.1715G>T (p.Gly572Val)	TLR8, TLR8-AS1 (G572V +1 more)	Single nucleotide variant (missense variant)	Autoimmune hemolytic anemia +1 more	GPathogenic
Select item 1172679	NM_138636.5(TLR8):c.1482C>A (p.Phe494Leu)	TLR8-AS1, TLR8 (F494L +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 98 with autoinflammation, X-linked +1 more	GPathogenic
Select item 1172678	NM_138636.5(TLR8):c.1715G>A (p.Gly572Asp)	TLR8, TLR8-AS1 (G572D +1 more)	Single nucleotide variant (missense variant)	Immunodeficiency 98 with autoinflammation, X-linked +1 more	GPathogenic
Select item 1172677	NM_138636.5(TLR8):c.1295C>T (p.Pro432Leu)	TLR8, TLR8-AS1 (P432L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1170509	NM_000639.3(FASLG):c.259T>C (p.Phe87Leu)	FASLG (F87L)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign