WASF2[gene] - ClinVar

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Items: 30

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2664871	GRCh38/hg38 1p36.33-35.1(chr1:99125-34026935)x3	LOC129929105, LOC129929106 +2149 more	Copy number gain	Trisomy 12p	GPathogenic
Select item 149963	GRCh38/hg38 1p36.11-34.2(chr1:24381206-41401517)x3	TXLNA, UBXN11 +1145 more	Copy number gain	See cases	GPathogenic
Select item 59928	GRCh38/hg38 1p36.11-35.3(chr1:26807012-27685191)x1	AHDC1, CD164L2 +98 more	Copy number loss	See cases	GPathogenic
Select item 148586	GRCh38/hg38 1p36.11-35.3(chr1:26854636-27645829)x1	AHDC1, CD164L2 +88 more	Copy number loss	See cases	GUncertain significance
Select item 58058	GRCh38/hg38 1p36.11-35.2(chr1:26963045-32279045)x3	ADGRB2, AHDC1 +348 more	Copy number gain	See cases	GPathogenic
Select item 2462837	NM_006990.5(WASF2):c.1259T>C (p.Leu420Pro)	WASF2 (L420P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2461533	NM_006990.5(WASF2):c.1256C>T (p.Pro419Leu)	WASF2 (P419L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2406246	NM_006990.5(WASF2):c.1199C>T (p.Pro400Leu)	WASF2 (P400L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 736628	NM_006990.5(WASF2):c.1191T>C (p.Pro397=)	WASF2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2479178	NM_006990.5(WASF2):c.1097C>G (p.Pro366Arg)	WASF2 (P366R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2522489	NM_006990.5(WASF2):c.997C>T (p.Pro333Ser)	WASF2 (P333S)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2388056	NM_006990.5(WASF2):c.977C>T (p.Pro326Leu)	WASF2 (P326L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2378780	NM_006990.5(WASF2):c.941C>T (p.Pro314Leu)	WASF2 (P314L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2216511	NM_006990.5(WASF2):c.928C>A (p.Pro310Thr)	WASF2 (P310T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2597979	NM_006990.5(WASF2):c.770C>T (p.Ser257Leu)	WASF2 (S257L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 730779	NM_006990.5(WASF2):c.740C>T (p.Pro247Leu)	WASF2 (P247L)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2540995	NM_006990.5(WASF2):c.731G>A (p.Ser244Asn)	WASF2 (S244N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2602927	NM_006990.5(WASF2):c.539A>G (p.Lys180Arg)	WASF2 (K180R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2278436	NM_006990.5(WASF2):c.338G>A (p.Arg113Lys)	LOC129929878, WASF2 (R113K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2298687	NM_006990.5(WASF2):c.313A>G (p.Ile105Val)	LOC129929878, WASF2 (I105V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2264132	NM_006990.5(WASF2):c.188C>T (p.Ser63Phe)	WASF2 (S63F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2364521	NM_006990.5(WASF2):c.82G>A (p.Val28Met)	WASF2 (V28M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2341536	NM_006990.5(WASF2):c.61G>A (p.Val21Ile)	WASF2 (V21I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481636	NM_006990.5(WASF2):c.22A>G (p.Ile8Val)	WASF2 (I8V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 150249	GRCh38/hg38 1p36.11-35.3(chr1:27429343-27699564)x1	AHDC1, FGR +32 more	Copy number loss	See cases	GUncertain significance
Select item 1526540	GRCh37/hg19 1p36.11-35.1(chr1:27543877-32819121)	GPR3, PTPRU +66 more	Copy number gain	not specified	GUncertain significance
Select item 1526429	GRCh37/hg19 1p36.11-35.3(chr1:27488298-28138628)	AHDC1, CD164L2 +11 more	Copy number loss	not specified	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic

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Items: 30