"Ambry Genetics"[submitter] AND "WBP11"[gene] - ClinVar

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

Search results

Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3189691	NM_016312.3(WBP11):c.1820C>T (p.Pro607Leu)	WBP11 (P607L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2231062	NM_016312.3(WBP11):c.1802_1803del (p.Glu601fs)	WBP11 (E601fs)	Microsatellite (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 2508879	NM_016312.3(WBP11):c.1787C>T (p.Pro596Leu)	WBP11 (P596L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189690	NM_016312.3(WBP11):c.1716G>C (p.Lys572Asn)	WBP11 (K572N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189689	NM_016312.3(WBP11):c.1541C>A (p.Pro514His)	WBP11 (P514H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2330652	NM_016312.3(WBP11):c.1540C>A (p.Pro514Thr)	WBP11 (P514T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2610368	NM_016312.3(WBP11):c.1526C>A (p.Pro509Gln)	WBP11 (P509Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622826	NM_016312.3(WBP11):c.1493G>T (p.Gly498Val)	WBP11 (G498V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189688	NM_016312.3(WBP11):c.1352G>A (p.Arg451Gln)	WBP11 (R451Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2219338	NM_016312.3(WBP11):c.1181C>T (p.Pro394Leu)	WBP11 (P394L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2398314	NM_016312.3(WBP11):c.1148C>T (p.Thr383Ile)	WBP11 (T383I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2286124	NM_016312.3(WBP11):c.1104G>C (p.Lys368Asn)	WBP11 (K368N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189687	NM_016312.3(WBP11):c.1093G>A (p.Glu365Lys)	WBP11 (E365K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298914	NM_016312.3(WBP11):c.1039C>T (p.Arg347Trp)	WBP11 (R347W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528074	NM_016312.3(WBP11):c.937A>G (p.Met313Val)	WBP11 (M313V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361327	NM_016312.3(WBP11):c.925C>T (p.Arg309Trp)	WBP11 (R309W)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2592772	NM_016312.3(WBP11):c.871C>T (p.Arg291Cys)	WBP11 (R291C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189694	NM_016312.3(WBP11):c.868C>T (p.His290Tyr)	WBP11 (H290Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2474242	NM_016312.3(WBP11):c.758G>A (p.Ser253Asn)	WBP11 (S253N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2362324	NM_016312.3(WBP11):c.742G>A (p.Asp248Asn)	WBP11 (D248N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189693	NM_016312.3(WBP11):c.706T>C (p.Tyr236His)	WBP11 (Y236H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3189692	NM_016312.3(WBP11):c.574C>A (p.Arg192Ser)	WBP11 (R192S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2547166	NM_016312.3(WBP11):c.572C>T (p.Pro191Leu)	WBP11 (P191L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2360643	NM_016312.3(WBP11):c.556C>G (p.Leu186Val)	WBP11 (L186V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2236337	NM_016312.3(WBP11):c.509C>T (p.Thr170Ile)	WBP11 (T170I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364934	NM_016312.3(WBP11):c.431T>C (p.Met144Thr)	WBP11 (M144T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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: 26