EBI3[gene] and "single gene"[properties] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2320577	NM_005755.3(EBI3):c.37G>A (p.Ala13Thr)	EBI3 (A13T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216729	NM_005755.3(EBI3):c.40A>G (p.Ser14Gly)	EBI3 (S14G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2376422	NM_005755.3(EBI3):c.95G>A (p.Arg32Gln)	EBI3 (R32Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086852	NM_005755.3(EBI3):c.142T>C (p.Trp48Arg)	EBI3 (W48R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2551567	NM_005755.3(EBI3):c.163A>G (p.Asn55Asp)	EBI3 (N55D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274356	NM_005755.3(EBI3):c.178G>A (p.Val60Met)	EBI3 (V60M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475566	NM_005755.3(EBI3):c.181T>G (p.Ser61Ala)	EBI3 (S61A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 785912	NM_005755.3(EBI3):c.200+3C>T	EBI3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2463969	NM_005755.3(EBI3):c.218G>A (p.Arg73Gln)	EBI3 (R73Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3086854	NM_005755.3(EBI3):c.231G>T (p.Trp77Cys)	EBI3 (W77C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086855	NM_005755.3(EBI3):c.235T>C (p.Cys79Arg)	EBI3 (C79R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223702	NM_005755.3(EBI3):c.253A>G (p.Thr85Ala)	EBI3 (T85A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2269736	NM_005755.3(EBI3):c.385C>T (p.Pro129Ser)	EBI3 (P129S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330834	NM_005755.3(EBI3):c.388G>A (p.Asp130Asn)	EBI3 (D130N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274354	NM_005755.3(EBI3):c.403G>T (p.Val135Leu)	EBI3 (V135L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359283	NM_005755.3(EBI3):c.406C>T (p.Arg136Cys)	EBI3 (R136C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378004	NM_005755.3(EBI3):c.407G>A (p.Arg136His)	EBI3 (R136H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 782615	NM_005755.3(EBI3):c.409C>T (p.Leu137=)	EBI3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3086856	NM_005755.3(EBI3):c.428G>A (p.Arg143His)	EBI3 (R143H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484473	NM_005755.3(EBI3):c.442C>G (p.Gln148Glu)	EBI3 (Q148E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2287784	NM_005755.3(EBI3):c.498G>T (p.Trp166Cys)	EBI3 (W166C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086857	NM_005755.3(EBI3):c.539T>G (p.Val180Gly)	EBI3 (V180G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274358	NM_005755.3(EBI3):c.557C>T (p.Thr186Met)	EBI3 (T186M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274357	NM_005755.3(EBI3):c.560C>T (p.Ser187Phe)	EBI3 (S187F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319244	NM_005755.3(EBI3):c.613G>T (p.Ala205Ser)	EBI3 (A205S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296247	NM_005755.3(EBI3):c.626C>G (p.Thr209Arg)	EBI3 (T209R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357373	NM_005755.3(EBI3):c.665C>G (p.Thr222Ser)	EBI3 (T222S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3274359	NM_005755.3(EBI3):c.671C>T (p.Thr224Ile)	EBI3 (T224I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 28