ClinVar for Gene (Select 54546) - ClinVar

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

Links from Gene

Items: 56

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314808	NM_019062.2(RNF186):c.517A>C (p.Ile173Leu)	RNF186, RNF186-AS1 (I173L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314807	NM_019062.2(RNF186):c.151C>T (p.Arg51Trp)	RNF186, RNF186-AS1 (R51W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314806	NM_019062.2(RNF186):c.142A>G (p.Ser48Gly)	RNF186, RNF186-AS1 (S48G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242274	GRCh37/hg19 1p36.32-36.12(chr1:4436802-22782007)x2	AADACL3, AADACL4 +207 more	Copy number loss	not provided	GPathogenic
Select item 3155228	NM_019062.2(RNF186):c.461G>A (p.Arg154His)	RNF186, RNF186-AS1 (R154H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155227	NM_019062.2(RNF186):c.380C>T (p.Ala127Val)	RNF186, RNF186-AS1 (A127V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155226	NM_019062.2(RNF186):c.376C>T (p.Pro126Ser)	RNF186, RNF186-AS1 (P126S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155225	NM_019062.2(RNF186):c.358C>A (p.Pro120Thr)	RNF186, RNF186-AS1 (P120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155224	NM_019062.2(RNF186):c.283C>T (p.Leu95Phe)	RNF186, RNF186-AS1 (L95F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155222	NM_019062.2(RNF186):c.205C>T (p.Leu69Phe)	RNF186, RNF186-AS1 (L69F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063033	GRCh37/hg19 1p36.13(chr1:20058581-20169174)x1	RNF186, TMCO4	Copy number loss	not specified	GUncertain significance
Select item 3062822	GRCh37/hg19 1p36.21-36.12(chr1:16194137-20561434)x1	ACTL8, AKR7A2 +58 more	Copy number loss	not specified	GPathogenic
Select item 2685797	GRCh37/hg19 1p36.13(chr1:18127009-20315260)x3	ACTL8, AKR7A2 +22 more	Copy number gain	not provided	GUncertain significance
Select item 2685031	GRCh37/hg19 1p36.13-36.12(chr1:17291707-23016395)x4	ACTL8, AKR7A2 +65 more	Copy number gain	not provided	GLikely pathogenic
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	A2ML1-AS2, A3GALT2 +2151 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 2614169	NM_019062.2(RNF186):c.560C>T (p.Ala187Val)	RNF186, RNF186-AS1 (A187V)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2614168	NM_019062.2(RNF186):c.195C>G (p.Ile65Met)	RNF186, RNF186-AS1 (I65M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595545	NM_019062.2(RNF186):c.298C>T (p.Arg100Cys)	RNF186, RNF186-AS1 (R100C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557389	NM_019062.2(RNF186):c.515T>A (p.Phe172Tyr)	RNF186, RNF186-AS1 (F172Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2520112	NM_019062.2(RNF186):c.607C>T (p.Arg203Trp)	RNF186, RNF186-AS1 (R203W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495742	NM_019062.2(RNF186):c.40T>G (p.Ser14Ala)	RNF186, RNF186-AS1 (S14A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461949	NM_019062.2(RNF186):c.338G>A (p.Cys113Tyr)	RNF186, RNF186-AS1 (C113Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460659	NM_019062.2(RNF186):c.469G>A (p.Ala157Thr)	RNF186, RNF186-AS1 (A157T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2446820	NC_000001.10:g.4481271_20530242del	NOL9, TNFRSF1B +184 more	Deletion	Chromosome 1p36 deletion syndrome	GPathogenic
Select item 2424757	NC_000001.10:g.(?_19199339)_(22987879_?)dup	AKR7A2, AKR7A3 +49 more	Duplication	Hyperprolinemia type 2 +2 more	GUncertain significance
Select item 2422561	NC_000001.10:g.(?_19199339)_(24690861_?)dup	AKR7A2, AKR7A3 +77 more	Duplication	Deficiency of hydroxymethylglutaryl-CoA lyase	GUncertain significance
Select item 2397129	NM_019062.2(RNF186):c.39C>G (p.Ile13Met)	RNF186, RNF186-AS1 (I13M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394638	NM_019062.2(RNF186):c.608G>A (p.Arg203Gln)	RNF186, RNF186-AS1 (R203Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2371713	NM_019062.2(RNF186):c.536G>A (p.Arg179Gln)	RNF186, RNF186-AS1 (R179Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355226	NM_019062.2(RNF186):c.524C>T (p.Pro175Leu)	RNF186, RNF186-AS1 (P175L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352442	NM_019062.2(RNF186):c.98C>G (p.Ser33Cys)	RNF186, RNF186-AS1 (S33C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349039	NM_019062.2(RNF186):c.470C>T (p.Ala157Val)	RNF186, RNF186-AS1 (A157V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2331402	NM_019062.2(RNF186):c.20T>C (p.Leu7Pro)	RNF186, RNF186-AS1 (L7P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2327476	NM_019062.2(RNF186):c.653A>G (p.Gln218Arg)	RNF186, RNF186-AS1 (Q218R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324855	NM_019062.2(RNF186):c.399C>A (p.His133Gln)	RNF186, RNF186-AS1 (H133Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321546	NM_019062.2(RNF186):c.445C>A (p.His149Asn)	RNF186, RNF186-AS1 (H149N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2318635	NM_019062.2(RNF186):c.679G>A (p.Ala227Thr)	RNF186, RNF186-AS1 (A227T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282387	NM_019062.2(RNF186):c.644G>T (p.Cys215Phe)	RNF186, RNF186-AS1 (C215F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2274375	NM_019062.2(RNF186):c.457C>T (p.Arg153Trp)	RNF186, RNF186-AS1 (R153W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271750	NM_019062.2(RNF186):c.370G>A (p.Val124Met)	RNF186, RNF186-AS1 (V124M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2222110	NM_019062.2(RNF186):c.152G>A (p.Arg51Gln)	RNF186, RNF186-AS1 (R51Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340990	GRCh37/hg19 1p36.13(chr1:16773001-20221073)x1	ACTL8, AKR7A2 +38 more	Copy number loss	not provided	GPathogenic
Select item 1228381	GRCh37/hg19 1p36.13-36.12(chr1:16785250-23491592)x1	FAM43B, HP1BP3 +77 more	Copy number loss	1p36.1 deletion syndrome	GPathogenic
Select item 980392	GRCh37/hg19 1p36.21-36.12(chr1:16041431-21295864)x1	EMC1, EPHA2 +73 more	Copy number loss	not provided	GPathogenic
Select item 980391	GRCh37/hg19 1p36.13-36.12(chr1:17284906-21778495)x1	AKR7A3, AKR7L +51 more	Copy number loss	not provided	GPathogenic
Select item 814062	GRCh37/hg19 1p36.13-36.12(chr1:20100416-20549013)x3	PLA2G2F, PLA2G5 +8 more	Copy number gain	not provided	GUncertain significance
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	AGL, AGMAT +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 253734	GRCh37/hg19 1p36.13-36.12(chr1:19809419-20418333)x3	TMCO4, HTR6 +9 more	Copy number gain	See cases	GUncertain significance
Select item 221359	chr1:17555508-24706269 complex variant	ACTL8, AKR7A2 +88 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221334	Single allele	IGSF21, IL22RA1 +314 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 149019	GRCh38/hg38 1p36.13-36.12(chr1:19548795-20935131)x1	CAMK2N1, CDA +81 more	Copy number loss	See cases	GUncertain significance
Select item 59922	GRCh38/hg38 1p36.13(chr1:19093306-20063342)x1	AKR7A2, AKR7A3 +57 more	Copy number loss	See cases	GPathogenic
Select item 59918	GRCh38/hg38 1p36.13-36.12(chr1:18347821-22512894)x1	EMC1-AS1, FAM43B +221 more	Copy number loss	See cases	GPathogenic
Select item 57443	GRCh38/hg38 1p36.21-36.12(chr1:15385267-20980349)x1	ACTL8, AGMAT +303 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: 56