Related gene-specific medical variations for Gene (Select 388695) - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3327468	NM_024575.5(TNFAIP8L2):c.526A>G (p.Arg176Gly)	LYSMD1, TNFAIP8L2 +1 more (R176G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292402	NM_212551.5(LYSMD1):c.353C>T (p.Pro118Leu)	LYSMD1, TNFAIP8L2-SCNM1 (P70L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292401	NM_212551.5(LYSMD1):c.653G>A (p.Arg218Gln)	LYSMD1, TNFAIP8L2-SCNM1 (R170Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3180193	NM_024575.5(TNFAIP8L2):c.65C>T (p.Ala22Val)	LYSMD1, TNFAIP8L2 +1 more (A22V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2691603	NM_024575.5(TNFAIP8L2):c.480T>A (p.Tyr160Ter)	LYSMD1, TNFAIP8L2 +1 more (Y160*)	Single nucleotide variant (nonsense +1 more)	not specified	GUncertain significance
Select item 2604389	NM_212551.5(LYSMD1):c.337A>T (p.Asn113Tyr)	LYSMD1, TNFAIP8L2-SCNM1 (N113Y +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2549943	NM_212551.5(LYSMD1):c.244C>G (p.Leu82Val)	LYSMD1, TNFAIP8L2-SCNM1 (L82V +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2548340	NM_024575.5(TNFAIP8L2):c.431G>T (p.Arg144Leu)	LYSMD1, TNFAIP8L2 +1 more (R144L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2541792	NM_212551.5(LYSMD1):c.167A>G (p.Lys56Arg)	LYSMD1, TNFAIP8L2-SCNM1 (K56R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539906	NM_212551.5(LYSMD1):c.14C>T (p.Ser5Phe)	LYSMD1, TNFAIP8L2-SCNM1 (S5F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2523637	NM_212551.5(LYSMD1):c.638G>A (p.Arg213Gln)	LYSMD1, TNFAIP8L2-SCNM1 (R213Q +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2475405	NM_212551.5(LYSMD1):c.74G>A (p.Gly25Glu)	LYSMD1, TNFAIP8L2-SCNM1 (G25E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2472126	NM_212551.5(LYSMD1):c.82G>A (p.Val28Met)	LYSMD1, TNFAIP8L2-SCNM1 (V28M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2466213	NM_024575.5(TNFAIP8L2):c.436G>A (p.Val146Met)	LYSMD1, TNFAIP8L2 +1 more (V146M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2377518	NM_212551.5(LYSMD1):c.11C>T (p.Pro4Leu)	LYSMD1, TNFAIP8L2-SCNM1 (P4L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2367998	NM_024575.5(TNFAIP8L2):c.153C>A (p.His51Gln)	LYSMD1, TNFAIP8L2 +1 more (H51Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2350323	NM_024575.5(TNFAIP8L2):c.165G>C (p.Gln55His)	LYSMD1, TNFAIP8L2 +1 more (Q55H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2343476	NM_024575.5(TNFAIP8L2):c.334G>A (p.Glu112Lys)	LYSMD1, TNFAIP8L2 +1 more (E112K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2336179	NM_212551.5(LYSMD1):c.298G>A (p.Glu100Lys)	LYSMD1, TNFAIP8L2-SCNM1 (E100K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2293893	NM_024575.5(TNFAIP8L2):c.172C>T (p.Arg58Cys)	LYSMD1, TNFAIP8L2 +1 more (R58C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2273240	NM_212551.5(LYSMD1):c.409G>C (p.Val137Leu)	LYSMD1, TNFAIP8L2-SCNM1 (V89L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2243527	NM_024575.5(TNFAIP8L2):c.42G>C (p.Glu14Asp)	LYSMD1, TNFAIP8L2 +1 more (E14D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216582	NM_024575.5(TNFAIP8L2):c.173G>A (p.Arg58His)	LYSMD1, TNFAIP8L2 +1 more (R58H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 775139	NM_024575.5(TNFAIP8L2):c.363C>G (p.Thr121=)	LYSMD1, TNFAIP8L2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 723112	NM_024575.5(TNFAIP8L2):c.71G>A (p.Arg24His)	LYSMD1, TNFAIP8L2 +1 more (R24H)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 708675	NM_024575.5(TNFAIP8L2):c.408G>A (p.Thr136=)	LYSMD1, TNFAIP8L2 +1 more	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign

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Links from Gene

Items: 26