ClinVar for Gene (Select 386724) - ClinVar

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

Links from Gene

Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 (missense 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
Select item 1456135	NC_000003.11:g.(?_49547968)_(50685477_?)del	AMIGO3, APEH +38 more	Deletion	Early infantile epileptic encephalopathy with suppression bursts	GPathogenic
Select item 1068732	NC_000003.11:g.(?_48507870)_(50340407_?)del	COL7A1, DAG1 +62 more	Deletion	Retinal vasculopathy with cerebral leukoencephalopathy and systemic manifestations +2 more	GPathogenic
Select item 980510	GRCh37/hg19 3p21.31-21.2(chr3:48807193-51363558)x1	MST1, ARIH2 +64 more	Copy number loss	not provided	GPathogenic
Select item 625696	GRCh37/hg19 3p21.31-21.1(chr3:45153770-53878616)	AMT, APEH +177 more	Copy number gain	not provided	GPathogenic
Select item 442401	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)x3	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	CMTM6, CMTM7 +1054 more	Copy number gain	See cases	GPathogenic
Select item 253356	GRCh37/hg19 3p22.2-21.31(chr3:37028313-49929220)x3	ABHD5, ACAA1 +177 more	Copy number gain	See cases	GLikely pathogenic
Select item 144168	GRCh38/hg38 3p21.31-21.2(chr3:45879883-50749922)x4	ALS2CL, AMIGO3 +379 more	Copy number gain	See cases	GPathogenic
Select item 57771	GRCh38/hg38 3p21.31-14.3(chr3:49461000-55314500)x1	ABHD14A, ABHD14A-ACY1 +329 more	Copy number loss	See cases	GPathogenic

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: 42