ARL6IP5[gene] - ClinVar

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

Search results

Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	ABHD6, ACOX2 +481 more	Copy number loss	See cases	GPathogenic
Select item 57772	GRCh38/hg38 3p14.1-12.3(chr3:64761248-78410098)x1	ADAMTS9-AS2, ARL6IP5 +234 more	Copy number loss	See cases	GPathogenic
Select item 144339	GRCh38/hg38 3p14.1-13(chr3:67391006-73414001)x1	ARL6IP5, EBLN2 +142 more	Copy number loss	See cases	GPathogenic
Select item 151504	GRCh38/hg38 3p14.1-12.3(chr3:68328980-76764319)x3	ARL6IP5, CNTN3 +175 more	Copy number gain	See cases	GLikely pathogenic
Select item 2558501	NM_006407.4(ARL6IP5):c.20C>A (p.Pro7Gln)	ARL6IP5 (P7Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129578	NM_006407.4(ARL6IP5):c.226G>A (p.Val76Met)	ARL6IP5 (V76M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349321	NM_006407.4(ARL6IP5):c.236G>C (p.Gly79Ala)	ARL6IP5 (G79A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279716	NM_006407.4(ARL6IP5):c.274C>T (p.Arg92Trp)	ARL6IP5 (R92W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520702	NM_006407.4(ARL6IP5):c.286C>T (p.Arg96Cys)	ARL6IP5 (R96C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324054	NM_006407.4(ARL6IP5):c.360G>A (p.Met120Ile)	ARL6IP5 (M120I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219147	NM_006407.4(ARL6IP5):c.401T>C (p.Phe134Ser)	ARL6IP5, LOC126806709 (F134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3129579	NM_006407.4(ARL6IP5):c.434A>C (p.Lys145Thr)	ARL6IP5, LOC126806709 (K145T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288901	NM_006407.4(ARL6IP5):c.438C>A (p.Asn146Lys)	ARL6IP5, LOC126806709 (N146K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317963	NM_006407.4(ARL6IP5):c.506T>A (p.Leu169Gln)	ARL6IP5, LOC126806709 (L169Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2471366	NM_006407.4(ARL6IP5):c.545A>G (p.Tyr182Cys)	ARL6IP5, LOC126806709 (Y182C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062713	GRCh37/hg19 3p14.2-13(chr3:62188399-71663248)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not specified	GPathogenic
Select item 1341307	GRCh37/hg19 3p14.2-13(chr3:59332508-70686155)x1	ADAMTS9, ARL6IP5 +24 more	Copy number loss	not provided	GPathogenic
Select item 1340927	GRCh37/hg19 3p14.1-13(chr3:68968872-70829637)x3	ARL6IP5, EOGT +6 more	Copy number gain	not provided	GUncertain significance
Select item 1064533	Single allele	EIF4E3, EOGT +12 more	Deletion	See cases	GPathogenic
Select item 685612	GRCh37/hg19 3p14.1(chr3:68831471-69535890)x3	ARL6IP5, EOGT +5 more	Copy number gain	not provided	GUncertain significance
Select item 585228	GRCh37/hg19 3p14.1(chr3:68461188-69158250)x1	ARL6IP5, EOGT +5 more	Copy number loss	not provided	Gnot provided
Select item 562781	GRCh37/hg19 3p14.1-12.3(chr3:66133719-75076440)x1	ARL6IP5, CNTN3 +22 more	Copy number loss	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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 24