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

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

Search results

Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2262192	NM_015045.5(WAPL):c.3362T>C (p.Val1121Ala)	WAPL (V1115A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253158	NM_015045.5(WAPL):c.3180T>A (p.Asp1060Glu)	WAPL (D1054E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282031	NM_015045.5(WAPL):c.3133C>T (p.Arg1045Trp)	WAPL (R1039W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2533247	NM_015045.5(WAPL):c.3080G>A (p.Gly1027Asp)	WAPL (G1021D +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2454864	NM_015045.5(WAPL):c.3061G>A (p.Asp1021Asn)	WAPL (D1015N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2204769	NM_015045.5(WAPL):c.3013A>G (p.Met1005Val)	WAPL (M1005V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2355118	NM_015045.5(WAPL):c.2699G>A (p.Arg900His)	WAPL (R900H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2337077	NM_015045.5(WAPL):c.2529A>T (p.Lys843Asn)	WAPL (K843N +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2394758	NM_015045.5(WAPL):c.2175_2178dup (p.Leu727fs)	WAPL (L721fs +1 more)	Microsatellite (frameshift variant)	Inborn genetic diseases	GUncertain significance
Select item 2547200	NM_015045.5(WAPL):c.1831A>G (p.Ile611Val)	WAPL (I605V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2412052	NM_015045.5(WAPL):c.1582A>G (p.Ile528Val)	WAPL (I528V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538938	NM_015045.5(WAPL):c.1546G>C (p.Asp516His)	WAPL (D516H +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604824	NM_015045.5(WAPL):c.1503T>G (p.Ser501Arg)	WAPL (S501R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2466692	NM_015045.5(WAPL):c.1471C>A (p.Pro491Thr)	WAPL (P491T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2559742	NM_015045.5(WAPL):c.1457C>T (p.Pro486Leu)	WAPL (P486L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347065	NM_015045.5(WAPL):c.1439C>A (p.Thr480Asn)	WAPL (T480N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270692	NM_015045.5(WAPL):c.1438A>G (p.Thr480Ala)	WAPL (T480A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2323601	NM_015045.5(WAPL):c.1270G>A (p.Val424Ile)	WAPL (V424I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2277060	NM_015045.5(WAPL):c.1244C>T (p.Pro415Leu)	WAPL (P415L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296738	NM_015045.5(WAPL):c.1152C>G (p.Phe384Leu)	WAPL (F384L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2217799	NM_015045.5(WAPL):c.1136G>A (p.Arg379His)	WAPL (R379H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553125	NM_015045.5(WAPL):c.1009G>A (p.Ala337Thr)	WAPL (A337T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2221174	NM_015045.5(WAPL):c.982G>A (p.Glu328Lys)	WAPL (E328K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2471389	NM_015045.5(WAPL):c.949G>A (p.Gly317Ser)	WAPL (G317S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2367699	NM_015045.5(WAPL):c.850G>A (p.Val284Ile)	WAPL (V284I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361494	NM_015045.5(WAPL):c.740G>C (p.Arg247Thr)	WAPL (R247T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2493474	NM_015045.5(WAPL):c.629C>G (p.Thr210Ser)	WAPL (T210S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2368129	NM_015045.5(WAPL):c.610A>G (p.Ile204Val)	WAPL (I204V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2228778	NM_015045.5(WAPL):c.536A>G (p.Asn179Ser)	WAPL (N179S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2538031	NM_015045.5(WAPL):c.409G>A (p.Glu137Lys)	WAPL (E137K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2494307	NM_015045.5(WAPL):c.385G>C (p.Val129Leu)	WAPL (V129L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2344624	NM_015045.5(WAPL):c.163A>G (p.Ile55Val)	WAPL (I55V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512371	NM_015045.5(WAPL):c.67G>A (p.Val23Ile)	WAPL (V23I)	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: 33