Related gene-specific medical variations for Gene (Select 51311) - ClinVar

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Links from Gene

Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3389521	NM_138636.5(TLR8):c.894C>T (p.Ser298=)	TLR8-AS1, TLR8	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3352420	NM_138636.5(TLR8):c.1050G>C (p.Lys350Asn)	TLR8, TLR8-AS1 (K350N +1 more)	Single nucleotide variant (missense variant)	TLR8-related condition	GUncertain significance
Select item 3342236	NM_138636.5(TLR8):c.2978G>A (p.Arg993Gln)	TLR8, TLR8-AS1 (R1011Q +1 more)	Single nucleotide variant (missense variant)	not provided	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 3326432	NM_138636.5(TLR8):c.2173T>C (p.Ser725Pro)	TLR8, TLR8-AS1 (S725P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3326431	NM_138636.5(TLR8):c.1663G>A (p.Asp555Asn)	TLR8, TLR8-AS1 (D573N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178060	NM_138636.5(TLR8):c.299T>C (p.Val100Ala)	TLR8, TLR8-AS1 (V100A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178059	NM_138636.5(TLR8):c.2581A>T (p.Asn861Tyr)	TLR8, TLR8-AS1 (N861Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178058	NM_138636.5(TLR8):c.196A>G (p.Thr66Ala)	TLR8, TLR8-AS1 (T84A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3067672	NM_138636.5(TLR8):c.12G>T (p.Met4Ile)	TLR8, TLR8-AS1 (M22I +1 more)	Single nucleotide variant (missense variant)	not provided	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 2688225	NM_138636.5(TLR8):c.354C>T (p.Asp118=)	TLR8, TLR8-AS1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688133	NM_138636.5(TLR8):c.1A>G (p.Met1Val)	TLR8, TLR8-AS1 (M1V)	Single nucleotide variant (5 prime UTR variant +2 more)	not specified	GBenign
Select item 2688012	NM_138636.5(TLR8):c.2253C>A (p.Ile751=)	TLR8, TLR8-AS1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2688009	NM_138636.5(TLR8):c.645C>T (p.His215=)	TLR8, TLR8-AS1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2687998	NM_138636.5(TLR8):c.1953G>C (p.Leu651=)	TLR8, TLR8-AS1	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2673216	NM_138636.5(TLR8):c.1296G>T (p.Pro432=)	TLR8, TLR8-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660020	NM_138636.5(TLR8):c.2886G>A (p.Leu962=)	TLR8, TLR8-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660019	NM_138636.5(TLR8):c.2311G>C (p.Gly771Arg)	TLR8, TLR8-AS1 (G771R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660018	NM_138636.5(TLR8):c.1172T>C (p.Met391Thr)	TLR8, TLR8-AS1 (M391T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2603497	NM_138636.5(TLR8):c.379C>A (p.Leu127Ile)	TLR8, TLR8-AS1 (L127I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2576054	NM_138636.5(TLR8):c.653C>A (p.Pro218His)	TLR8, TLR8-AS1 (P218H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2490026	NM_138636.5(TLR8):c.2926A>C (p.Ile976Leu)	TLR8, TLR8-AS1 (I976L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407651	NM_138636.5(TLR8):c.1663G>T (p.Asp555Tyr)	TLR8, TLR8-AS1 (D555Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377717	NM_138636.5(TLR8):c.2617C>T (p.Leu873Phe)	TLR8, TLR8-AS1 (L891F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345410	NM_138636.5(TLR8):c.2087G>A (p.Arg696His)	TLR8, TLR8-AS1 (R714H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343567	NM_138636.5(TLR8):c.2297T>C (p.Met766Thr)	TLR8, TLR8-AS1 (M766T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2337267	NM_138636.5(TLR8):c.2047T>A (p.Leu683Ile)	TLR8, TLR8-AS1 (L683I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323956	NM_138636.5(TLR8):c.196A>T (p.Thr66Ser)	TLR8, TLR8-AS1 (T66S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323120	NM_138636.5(TLR8):c.377A>C (p.Asn126Thr)	TLR8, TLR8-AS1 (N126T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281168	NM_138636.5(TLR8):c.562G>A (p.Glu188Lys)	TLR8, TLR8-AS1 (E206K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2261035	NM_138636.5(TLR8):c.74G>A (p.Cys25Tyr)	TLR8, TLR8-AS1 (C25Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2249026	NM_138636.5(TLR8):c.635C>T (p.Ser212Phe)	TLR8, TLR8-AS1 (S212F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227243	NM_138636.5(TLR8):c.79G>A (p.Glu27Lys)	TLR8, TLR8-AS1 (E45K +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2210222	NM_138636.5(TLR8):c.2134T>A (p.Ser712Thr)	TLR8, TLR8-AS1 (S712T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1695284	NM_138636.5(TLR8):c.1552G>A (p.Ala518Thr)	TLR8, TLR8-AS1 (A518T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1339650	NM_138636.5(TLR8):c.2498T>C (p.Phe833Ser)	TLR8, TLR8-AS1 (F833S +1 more)	Single nucleotide variant (missense variant)	Autoimmune hemolytic anemia +1 more	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 788047	NM_138636.5(TLR8):c.2144G>A (p.Arg715Gln)	TLR8, TLR8-AS1 (R715Q +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 784429	NM_138636.5(TLR8):c.561C>T (p.Cys187=)	TLR8, TLR8-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 773100	NM_138636.5(TLR8):c.2247A>G (p.Lys749=)	TLR8, TLR8-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 754403	NM_138636.5(TLR8):c.1227C>T (p.Ile409=)	TLR8, TLR8-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 739927	NM_138636.5(TLR8):c.52A>G (p.Ile18Val)	TLR8, TLR8-AS1 (I18V +1 more)	Single nucleotide variant (missense variant)	not specified +1 more	GConflicting classifications of pathogenicity

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Links from Gene

Items: 47