16937[HGNC] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150826	GRCh38/hg38 3p14.3-11.1(chr3:57140424-90259960)x1	HTD2, HTR1F +482 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 3315288	NM_006407.4(ARL6IP5):c.310G>A (p.Val104Met)	ARL6IP5 (V104M)	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 3315278	NM_006407.4(ARL6IP5):c.374G>A (p.Gly125Asp)	ARL6IP5 (G125D)	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	HHLA2, HIGD1A +1054 more	Copy number gain	See cases	GPathogenic
Select item 442400	GRCh37/hg19 3p26.3-q29(chr3:61892-197851986)	A4GNT, AADAC +1054 more	Copy number gain	See cases	GPathogenic

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Items: 26