"Ambry Genetics"[submitter] AND "RBAK-RBAKDN"[gene] - ClinVar

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

Search results

Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2268865	NM_021163.4(RBAK):c.246G>C (p.Trp82Cys)	RBAK, RBAK-RBAKDN (W82C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411398	NM_021163.4(RBAK):c.290A>G (p.Lys97Arg)	RBAK, RBAK-RBAKDN (K97R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2254615	NM_021163.4(RBAK):c.326C>A (p.Thr109Asn)	RBAK, RBAK-RBAKDN (T109N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313095	NM_021163.4(RBAK):c.343G>A (p.Glu115Lys)	RBAK, RBAK-RBAKDN (E115K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313097	NM_021163.4(RBAK):c.437C>G (p.Ser146Cys)	RBAK, RBAK-RBAKDN (S146C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2245691	NM_021163.4(RBAK):c.550G>T (p.Gly184Trp)	RBAK, RBAK-RBAKDN (G184W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152045	NM_021163.4(RBAK):c.598A>G (p.Ile200Val)	RBAK, RBAK-RBAKDN (I200V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2213620	NM_021163.4(RBAK):c.631A>T (p.Met211Leu)	RBAK, RBAK-RBAKDN (M211L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2302779	NM_021163.4(RBAK):c.716G>A (p.Gly239Glu)	RBAK, RBAK-RBAKDN (G239E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152046	NM_021163.4(RBAK):c.727A>T (p.Ile243Leu)	RBAK, RBAK-RBAKDN (I243L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2204302	NM_021163.4(RBAK):c.761C>T (p.Ser254Leu)	RBAK, RBAK-RBAKDN (S254L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2374505	NM_021163.4(RBAK):c.772A>G (p.Met258Val)	RBAK, RBAK-RBAKDN (M258V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152047	NM_021163.4(RBAK):c.869A>C (p.Glu290Ala)	RBAK, RBAK-RBAKDN (E290A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2224312	NM_021163.4(RBAK):c.922C>T (p.Arg308Trp)	RBAK, RBAK-RBAKDN (R308W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2215057	NM_021163.4(RBAK):c.923G>A (p.Arg308Gln)	RBAK, RBAK-RBAKDN (R308Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338706	NM_021163.4(RBAK):c.1123T>C (p.Cys375Arg)	RBAK, RBAK-RBAKDN (C375R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2596763	NM_021163.4(RBAK):c.1350T>A (p.Ser450Arg)	RBAK, RBAK-RBAKDN (S450R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355207	NM_021163.4(RBAK):c.1369T>C (p.Tyr457His)	RBAK, RBAK-RBAKDN (Y457H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152037	NM_021163.4(RBAK):c.1376G>C (p.Cys459Ser)	RBAK, RBAK-RBAKDN (C459S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460724	NM_021163.4(RBAK):c.1427G>A (p.Arg476Gln)	RBAK, RBAK-RBAKDN (R476Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559712	NM_021163.4(RBAK):c.1465G>C (p.Glu489Gln)	RBAK, RBAK-RBAKDN (E489Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2337591	NM_021163.4(RBAK):c.1481C>T (p.Ser494Phe)	RBAK, RBAK-RBAKDN (S494F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152038	NM_021163.4(RBAK):c.1502A>G (p.His501Arg)	RBAK, RBAK-RBAKDN (H501R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313094	NM_021163.4(RBAK):c.1550G>C (p.Gly517Ala)	RBAK, RBAK-RBAKDN (G517A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2249801	NM_021163.4(RBAK):c.1571C>T (p.Ser524Leu)	RBAK, RBAK-RBAKDN (S524L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152039	NM_021163.4(RBAK):c.1646A>G (p.Asn549Ser)	RBAK, RBAK-RBAKDN (N549S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3152040	NM_021163.4(RBAK):c.1655C>T (p.Ser552Leu)	RBAK, RBAK-RBAKDN (S552L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152041	NM_021163.4(RBAK):c.1679G>A (p.Ser560Asn)	RBAK, RBAK-RBAKDN (S560N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550352	NM_021163.4(RBAK):c.1688A>G (p.Glu563Gly)	RBAK, RBAK-RBAKDN (E563G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509972	NM_021163.4(RBAK):c.1711G>A (p.Glu571Lys)	RBAK, RBAK-RBAKDN (E571K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2542106	NM_021163.4(RBAK):c.1733A>G (p.His578Arg)	RBAK, RBAK-RBAKDN (H578R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152042	NM_021163.4(RBAK):c.1813T>C (p.Ser605Pro)	RBAK, RBAK-RBAKDN (S605P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3313096	NM_021163.4(RBAK):c.1840C>T (p.His614Tyr)	RBAK, RBAK-RBAKDN (H614Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2236344	NM_021163.4(RBAK):c.1841A>G (p.His614Arg)	RBAK, RBAK-RBAKDN (H614R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152043	NM_021163.4(RBAK):c.2028G>C (p.Glu676Asp)	RBAK, RBAK-RBAKDN (E676D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2589126	NM_021163.4(RBAK):c.2048A>G (p.Glu683Gly)	RBAK, RBAK-RBAKDN (E683G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3152044	NM_021163.4(RBAK):c.2113A>G (p.Asn705Asp)	RBAK, RBAK-RBAKDN (N705D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2410845	NM_001204513.3(RBAK-RBAKDN):c.241G>T (p.Ala81Ser)	RBAK-RBAKDN, RBAKDN (A81S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2267780	NM_001204513.3(RBAK-RBAKDN):c.256C>T (p.His86Tyr)	RBAK-RBAKDN, RBAKDN (H86Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2529982	NM_001204513.3(RBAK-RBAKDN):c.334G>A (p.Gly112Arg)	RBAK-RBAKDN, RBAKDN (G112R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign

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: 40