ClinVar for Gene (Select 54546) - ClinVar

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Links from Gene

Items: 53

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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	LOC112577491, LOC112577504 +2149 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	Congenital disorder of glycosylation type Ir +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	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	BCAS2, CNTN2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	FAM76A, FAM78B +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

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Links from Gene

Items: 53