"Ambry Genetics"[submitter] AND "RNF214"[gene] - ClinVar

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

Search results

Items: 32

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 3155296	NM_207343.4(RNF214):c.41C>G (p.Pro14Arg)	RNF214 (P14R)	Single nucleotide variant (missense variant)	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 3155301	NM_207343.4(RNF214):c.79T>C (p.Ser27Pro)	RNF214 (S27P)	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 3314845	NM_207343.4(RNF214):c.140C>T (p.Ser47Leu)	LOC124625847, RNF214 (S47L)	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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2296050	NM_207343.4(RNF214):c.1693C>T (p.Arg565Trp)	RNF214 (R410W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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: 32