ClinVar for Gene (Select 257160) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3314849	NM_207343.4(RNF214):c.1675C>G (p.Leu559Val)	RNF214 (L559V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314848	NM_207343.4(RNF214):c.952G>C (p.Gly318Arg)	RNF214 (G318R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314847	NM_207343.4(RNF214):c.938A>C (p.Lys313Thr)	RNF214 (K158T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314846	NM_207343.4(RNF214):c.1615G>A (p.Gly539Ser)	RNF214 (G384S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3314845	NM_207343.4(RNF214):c.140C>T (p.Ser47Leu)	LOC124625847, RNF214 (S47L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155302	NM_207343.4(RNF214):c.865A>G (p.Thr289Ala)	RNF214 (T134A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155301	NM_207343.4(RNF214):c.79T>C (p.Ser27Pro)	RNF214 (S27P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155300	NM_207343.4(RNF214):c.725A>G (p.Glu242Gly)	RNF214 (E87G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155299	NM_207343.4(RNF214):c.616C>A (p.Gln206Lys)	RNF214 (Q206K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155298	NM_207343.4(RNF214):c.59C>A (p.Ser20Tyr)	RNF214 (S20Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155297	NM_207343.4(RNF214):c.554G>A (p.Arg185Gln)	RNF214 (R185Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3155296	NM_207343.4(RNF214):c.41C>G (p.Pro14Arg)	RNF214 (P14R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155295	NM_207343.4(RNF214):c.35A>G (p.Asn12Ser)	RNF214 (N12S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3155294	NM_207343.4(RNF214):c.1640C>G (p.Pro547Arg)	RNF214 (P547R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155293	NM_207343.4(RNF214):c.1520A>G (p.His507Arg)	RNF214 (H352R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155292	NM_207343.4(RNF214):c.1444C>T (p.Arg482Cys)	RNF214 (R327C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155291	NM_207343.4(RNF214):c.122C>T (p.Ala41Val)	LOC124625847, RNF214 (A41V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155290	NM_207343.4(RNF214):c.1227G>T (p.Lys409Asn)	RNF214 (K254N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3155289	NM_207343.4(RNF214):c.1210G>A (p.Val404Ile)	RNF214 (V249I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3148862	GRCh37/hg19 11q23.3-25(chr11:116683755-134937416)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 2671625	Single allele	AASDHPPT, ABCG4 +275 more	Duplication	not provided	GPathogenic
Select item 2642408	NM_207343.4(RNF214):c.2022G>A (p.Ala674=)	RNF214	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2609561	NM_207343.4(RNF214):c.443A>G (p.Asn148Ser)	RNF214 (N148S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2608297	NM_207343.4(RNF214):c.659A>G (p.Gln220Arg)	RNF214 (Q220R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2537197	NM_207343.4(RNF214):c.993G>C (p.Lys331Asn)	RNF214 (K331N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492087	NM_207343.4(RNF214):c.661G>T (p.Asp221Tyr)	RNF214 (D66Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2486792	NM_207343.4(RNF214):c.182A>G (p.Asn61Ser)	LOC124625847, RNF214 (N61S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2426021	NC_000011.9:g.(?_116660844)_(117870356_?)del	IL10RA, PAFAH1B2 +17 more	Deletion	not provided	GUncertain significance
Select item 2422303	NC_000011.9:g.(?_116691583)_(121500272_?)dup	ABCG4, APOA1 +72 more	Duplication	Immunodeficiency 19 +5 more	GUncertain significance
Select item 2409823	NM_207343.4(RNF214):c.878T>C (p.Ile293Thr)	RNF214 (I138T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360263	NM_207343.4(RNF214):c.427C>G (p.Gln143Glu)	RNF214 (Q143E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357670	NM_207343.4(RNF214):c.340A>G (p.Ser114Gly)	LOC124625847, RNF214 (S114G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349041	NM_207343.4(RNF214):c.741G>C (p.Gln247His)	RNF214 (Q92H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2303477	NM_207343.4(RNF214):c.1585G>A (p.Ala529Thr)	RNF214 (A374T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2296050	NM_207343.4(RNF214):c.1693C>T (p.Arg565Trp)	RNF214 (R410W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255981	NM_207343.4(RNF214):c.364A>G (p.Thr122Ala)	LOC124625847, RNF214 (T122A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2216658	NM_207343.4(RNF214):c.1385G>A (p.Arg462Gln)	RNF214 (R462Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1410294	NC_000011.9:g.(?_116660844)_(121500272_?)dup	FOXR1, FXYD6 +73 more	Duplication	not provided	GUncertain significance
Select item 1341168	GRCh37/hg19 11q23.1-24.3(chr11:112375478-128785742)x3	ABCG4, ACRV1 +172 more	Copy number gain	not provided	GPathogenic
Select item 1340004	GRCh37/hg19 11q14.1-23.3(chr11:85422071-118022671)x1	AASDHPPT, ACAT1 +182 more	Copy number loss	not provided	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 973579	NC_000011.9:g.104288964_134937416dup	VSIG2, VWA5A +259 more	Duplication	Distal trisomy 11q	GPathogenic
Select item 812956	Single allele	APLP2, LINC02873 +169 more	Deletion	Anemia +7 more	GLikely pathogenic
Select item 625808	GRCh37/hg19 11q23.3-25(chr11:116700253-134904063)	BACE1, BACE1-AS +176 more	Copy number gain	not provided	GPathogenic
Select item 625659	GRCh37/hg19 11q23.3-25(chr11:116691675-134889485)	ARHGAP32, ARHGEF12 +177 more	Copy number gain	not provided	GPathogenic
Select item 563884	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	not provided	GPathogenic
Select item 563876	GRCh37/hg19 11q23.3(chr11:116669751-120979377)x3	ABCG4, APOA1 +70 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441664	GRCh37/hg19 11q23.3-25(chr11:116681007-134938470)x3	ABCG4, ACAD8 +177 more	Copy number gain	See cases	GPathogenic
Select item 253520	GRCh37/hg19 11q23.3(chr11:115215434-120559928)x3	ABCG4, APOA1 +72 more	Copy number gain	See cases	GPathogenic
Select item 161071	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 149257	GRCh38/hg38 11q23.3-25(chr11:116806268-135075271)x3	ABCG4, ACAD8 +769 more	Copy number gain	See cases	GPathogenic
Select item 148511	GRCh38/hg38 11q23.3(chr11:115647670-117581883)x3	APOA1, APOA1-AS +83 more	Copy number gain	See cases	GUncertain significance
Select item 148508	GRCh38/hg38 11q23.2-25(chr11:112864326-131189315)x3	BCL9L, BLID +774 more	Copy number gain	See cases	GPathogenic
Select item 148379	GRCh38/hg38 11q23.3-25(chr11:116868935-135075271)x3	LOC130006864, LOC130006865 +763 more	Copy number gain	See cases	GPathogenic
Select item 144588	GRCh38/hg38 11q23.3-25(chr11:116851372-134998526)x3	ABCG4, ACAD8 +764 more	Copy number gain	See cases	GPathogenic
Select item 59774	GRCh38/hg38 11q23.3(chr11:116436425-118046231)x3	LOC130006826, LOC130006827 +90 more	Copy number gain	See cases	GPathogenic
Select item 59772	GRCh38/hg38 11q22.1-25(chr11:100348599-135040246)x3	AASDHPPT, ABCG4 +1199 more	Copy number gain	See cases	GPathogenic
Select item 57036	GRCh38/hg38 11q23.2-23.3(chr11:113444446-120648921)x3	LOC130006895, LOC130006896 +355 more	Copy number gain	See cases	GPathogenic
Select item 33553	GRCh38/hg38 11q23.3-25(chr11:116851395-134998513)x3	LOC128772366, LOC128772367 +764 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 62