Related gene-specific medical variations for Gene (Select 386724) - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3292967	NM_198722.3(AMIGO3):c.730G>T (p.Asp244Tyr)	AMIGO3, RNF123 (D244Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292956	NM_198722.3(AMIGO3):c.619C>A (p.Pro207Thr)	AMIGO3, RNF123 (P207T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292945	NM_198722.3(AMIGO3):c.739C>A (p.Arg247Ser)	AMIGO3, RNF123 (R247S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292934	NM_198722.3(AMIGO3):c.887T>C (p.Leu296Pro)	AMIGO3, RNF123 (L296P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292923	NM_198722.3(AMIGO3):c.151G>C (p.Gly51Arg)	AMIGO3, RNF123 (G51R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292912	NM_198722.3(AMIGO3):c.1054T>G (p.Cys352Gly)	AMIGO3, RNF123 (C352G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3292902	NM_198722.3(AMIGO3):c.614C>G (p.Ala205Gly)	AMIGO3, RNF123 (A205G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3116000	NM_198722.3(AMIGO3):c.951G>T (p.Glu317Asp)	AMIGO3, RNF123 (E317D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115981	NM_198722.3(AMIGO3):c.368C>T (p.Ala123Val)	AMIGO3, RNF123 (A123V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115980	NM_198722.3(AMIGO3):c.344A>C (p.Asp115Ala)	AMIGO3, RNF123 (D115A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115977	NM_198722.3(AMIGO3):c.272A>T (p.His91Leu)	AMIGO3, RNF123 (H91L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115974	NM_198722.3(AMIGO3):c.206G>C (p.Ser69Thr)	AMIGO3, RNF123 (S69T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115970	NM_198722.3(AMIGO3):c.1363G>C (p.Val455Leu)	AMIGO3, RNF123 (V455L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3115963	NM_198722.3(AMIGO3):c.1234C>G (p.Arg412Gly)	AMIGO3, RNF123 (R412G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2653845	NM_198722.3(AMIGO3):c.1248_1256dup (p.Arg418_Trp419insCysArgArg)	AMIGO3, RNF123	Duplication (inframe_insertion +1 more)	not provided	GBenign
Select item 2607585	NM_198722.3(AMIGO3):c.1222C>G (p.Arg408Gly)	AMIGO3, RNF123 (R408G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2560185	NM_198722.3(AMIGO3):c.956T>G (p.Leu319Arg)	AMIGO3, RNF123 (L319R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550082	NM_198722.3(AMIGO3):c.796C>T (p.His266Tyr)	AMIGO3, RNF123 (H266Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2539173	NM_198722.3(AMIGO3):c.770C>T (p.Pro257Leu)	AMIGO3, RNF123 (P257L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516029	NM_198722.3(AMIGO3):c.523G>C (p.Asp175His)	AMIGO3, RNF123 (D175H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509132	NM_198722.3(AMIGO3):c.1159A>G (p.Thr387Ala)	AMIGO3, RNF123 (T387A)	Single nucleotide variant (intron variant +1 more)	not specified	GUncertain significance
Select item 2476902	NM_198722.3(AMIGO3):c.1253G>A (p.Arg418His)	AMIGO3, RNF123 (R418H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2354854	NM_198722.3(AMIGO3):c.322G>A (p.Ala108Thr)	AMIGO3, RNF123 (A108T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2329348	NM_198722.3(AMIGO3):c.1477G>T (p.Ala493Ser)	AMIGO3, RNF123 (A493S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2323857	NM_198722.3(AMIGO3):c.1039G>A (p.Ala347Thr)	AMIGO3, RNF123 (A347T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2310368	NM_198722.3(AMIGO3):c.451C>T (p.His151Tyr)	AMIGO3, RNF123 (H151Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2304532	NM_198722.3(AMIGO3):c.1360G>C (p.Val454Leu)	AMIGO3, RNF123 (V454L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2286912	NM_198722.3(AMIGO3):c.952C>G (p.Leu318Val)	AMIGO3, RNF123 (L318V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2279239	NM_198722.3(AMIGO3):c.1460A>G (p.Lys487Arg)	AMIGO3, RNF123 (K487R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272717	NM_198722.3(AMIGO3):c.1356G>C (p.Lys452Asn)	AMIGO3, RNF123 (K452N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2272716	NM_198722.3(AMIGO3):c.121G>A (p.Ala41Thr)	AMIGO3, RNF123 (A41T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2271832	NM_198722.3(AMIGO3):c.922C>A (p.Arg308Ser)	AMIGO3, RNF123 (R308S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2247762	NM_198722.3(AMIGO3):c.429C>A (p.Asn143Lys)	AMIGO3, RNF123 (N143K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244427	NM_198722.3(AMIGO3):c.38T>C (p.Met13Thr)	AMIGO3, RNF123 (M13T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223734	NM_198722.3(AMIGO3):c.1465G>A (p.Gly489Ser)	AMIGO3, RNF123 (G489S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2223370	NM_198722.3(AMIGO3):c.143C>T (p.Thr48Ile)	AMIGO3, RNF123 (T48I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215830	NM_198722.3(AMIGO3):c.813G>C (p.Glu271Asp)	AMIGO3, RNF123 (E271D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215829	NM_198722.3(AMIGO3):c.718A>G (p.Ser240Gly)	AMIGO3, RNF123 (S240G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2205673	NM_198722.3(AMIGO3):c.844G>C (p.Glu282Gln)	AMIGO3, RNF123 (E282Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1711575	NM_198722.3(AMIGO3):c.1041G>A (p.Ala347=)	AMIGO3, RNF123	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 40