WASF3[gene] - ClinVar

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Items: 59

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 146305	GRCh38/hg38 13q11-34(chr13:18445862-114327173)x1	ATP8A2, ATXN8OS +2048 more	Copy number loss	See cases	GPathogenic
Select item 151282	GRCh38/hg38 13q11-34(chr13:18456040-114340285)x3	ABCC4, ABHD13 +2049 more	Copy number gain	See cases	GPathogenic
Select item 59851	GRCh38/hg38 13q11-34(chr13:18565048-114327173)x3	LOC126861801, LOC126861802 +2047 more	Copy number gain	See cases	GPathogenic
Select item 59853	GRCh38/hg38 13q11-13.3(chr13:18676442-37656039)x3	PDS5B, PDX1 +566 more	Copy number gain	See cases	GPathogenic
Select item 59855	GRCh38/hg38 13q11-34(chr13:18850545-114327173)x3	ABCC4, ABHD13 +2044 more	Copy number gain	See cases	GPathogenic
Select item 155395	GRCh38/hg38 13q11-34(chr13:18862146-114342258)x3	LOC126861839, LOC126861840 +2045 more	Copy number gain	See cases	GPathogenic
Select item 153502	GRCh38/hg38 13q11-13.2(chr13:18862146-33577351)x3	LOC130009480, LOC130009481 +488 more	Copy number gain	See cases	GPathogenic
Select item 59858	GRCh38/hg38 13q12.11-34(chr13:18946182-114304628)x3	ABCC4, ABHD13 +2040 more	Copy number gain	See cases	GPathogenic
Select item 59861	GRCh38/hg38 13q12.11-12.3(chr13:18958091-31090460)x3	USPL1, WASF3 +415 more	Copy number gain	See cases	GPathogenic
Select item 154857	GRCh38/hg38 13q12.11-34(chr13:19671934-114340331)x3	LOC124849292, LOC124849293 +2028 more	Copy number gain	See cases	GPathogenic
Select item 148827	GRCh38/hg38 13q12.11-14.11(chr13:19671934-40914767)x3	LOC130009376, LOC130009377 +620 more	Copy number gain	See cases	GPathogenic
Select item 150189	GRCh38/hg38 13q12.11-34(chr13:19833130-114327106)x3	ABCC4, ABHD13 +2024 more	Copy number gain	See cases	GPathogenic
Select item 144647	GRCh38/hg38 13q12.11-34(chr13:19833130-114298614)x3	ABCC4, ABHD13 +2021 more	Copy number gain	See cases	GPathogenic
Select item 160881	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009743, LOC130009744 +2024 more	Copy number gain	See cases	GPathogenic
Select item 59863	GRCh38/hg38 13q12.11-34(chr13:19837395-114327173)x3	LOC130009548, LOC130009549 +2024 more	Copy number gain	See cases	GPathogenic
Select item 2364169	NM_006646.6(WASF3):c.106G>A (p.Ala36Thr)	WASF3 (A36T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2297918	NM_006646.6(WASF3):c.116G>A (p.Arg39His)	WASF3 (R39H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715586	NM_006646.6(WASF3):c.134-10T>C	WASF3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2257821	NM_006646.6(WASF3):c.139C>T (p.His47Tyr)	WASF3 (H47Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2288198	NM_006646.6(WASF3):c.169A>G (p.Asn57Asp)	WASF3 (N57D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2249771	NM_006646.6(WASF3):c.180C>A (p.Asn60Lys)	WASF3 (N60K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2607135	NM_006646.6(WASF3):c.224G>T (p.Arg75Leu)	WASF3 (R75L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2305335	NM_006646.6(WASF3):c.233T>C (p.Val78Ala)	WASF3 (V78A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2389579	NM_006646.6(WASF3):c.345C>G (p.Asn115Lys)	WASF3 (N115K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2352272	NM_006646.6(WASF3):c.496C>G (p.Leu166Val)	WASF3 (L166V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2282993	NM_006646.6(WASF3):c.752C>T (p.Pro251Leu)	WASF3 (P248L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309020	NM_006646.6(WASF3):c.826G>A (p.Gly276Arg)	WASF3 (G273R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 756756	NM_006646.6(WASF3):c.912G>A (p.Pro304=)	WASF3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2302508	NM_006646.6(WASF3):c.917C>G (p.Pro306Arg)	WASF3 (P306R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2558628	NM_006646.6(WASF3):c.920C>T (p.Pro307Leu)	WASF3 (P304L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 776903	NM_006646.6(WASF3):c.928C>G (p.Pro310Ala)	WASF3 (P307A +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 784481	NM_006646.6(WASF3):c.963G>A (p.Pro321=)	WASF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2310572	NM_006646.6(WASF3):c.1037C>T (p.Pro346Leu)	WASF3 (P346L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2472108	NM_006646.6(WASF3):c.1043C>T (p.Pro348Leu)	WASF3 (P348L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 715458	NM_006646.6(WASF3):c.1142C>G (p.Ala381Gly)	WASF3 (A378G +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2472270	NM_006646.6(WASF3):c.1184C>T (p.Pro395Leu)	WASF3 (P392L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271607	NM_006646.6(WASF3):c.1193C>T (p.Pro398Leu)	WASF3 (P395L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604161	NM_006646.6(WASF3):c.1261G>C (p.Gly421Arg)	WASF3 (G418R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 720489	NM_006646.6(WASF3):c.1309A>G (p.Ile437Val)	WASF3 (I434V +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2533076	NM_006646.6(WASF3):c.1339G>A (p.Ala447Thr)	WASF3 (A447T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213460	NM_006646.6(WASF3):c.1399C>T (p.Arg467Trp)	WASF3 (R467W +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 710362	NM_006646.6(WASF3):c.1503C>T (p.Ser501=)	WASF3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3063305	GRCh37/hg19 13q12.12-12.2(chr13:23329180-28663294)x3	AMER2, ATP12A +33 more	Copy number gain	not specified	GUncertain significance
Select item 1710518	GRCh37/hg19 13q11-34(chr13:19253848-115108937)x3	CCDC169-SOHLH2, CCDC70 +332 more	Copy number gain	not provided	GPathogenic
Select item 1703573	GRCh37/hg19 13p13-q34(chr13:1-115169878)	PCID2, PCOTH +332 more	Copy number gain	Complete trisomy 13 syndrome	GPathogenic
Select item 1527750	GRCh37/hg19 13q11-34(chr13:19436286-115107733)	ABCC4, DNAJC15 +332 more	Copy number gain	not specified	GPathogenic
Select item 1527749	GRCh37/hg19 13q11-34(chr13:19436286-114981726)	ZMYM5, SPATA13 +329 more	Copy number gain	not specified	GPathogenic
Select item 1341081	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ARGLU1, FBXL3 +332 more	Copy number gain	not provided	GPathogenic
Select item 1321996	GRCh37/hg19 13p13-q34(chr13:1-115169878)x3	MRPL57, MRPS31 +332 more	Copy number gain	See cases	GPathogenic
Select item 1048617	GRCh37/hg19 13q11-34(chr13:19053605-115108528)x3	DGKH, DHRS12 +332 more	Copy number gain	See cases	GPathogenic
Select item 979362	GRCh37/hg19 13q12.12-12.3(chr13:23775339-30534624)x3	AMER2, GTF3A +40 more	Copy number gain	not provided	GLikely pathogenic
Select item 688438	GRCh37/hg19 13q11-34(chr13:19436286-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	not provided	GPathogenic
Select item 686932	GRCh37/hg19 13q12.11-12.13(chr13:20069228-27474401)x3	AMER2, ATP12A +40 more	Copy number gain	not provided	GPathogenic
Select item 564083	GRCh37/hg19 13q11-22.1(chr13:19436286-74045459)x3	AKAP11, ALG11 +211 more	Copy number gain	not provided	GPathogenic
Select item 523170	GRCh37/hg19 13q12.12-13.2(chr13:24080918-34361992)x1	PARP4, PCOTH +56 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 441765	GRCh37/hg19 13q11-34(chr13:19436287-115107733)	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 441764	GRCh37/hg19 13q11-34(chr13:19436287-115107733)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic
Select item 394462	GRCh37/hg19 13q12.11-34(chr13:19571503-115092510)	ALG11, ABCC4 +332 more	Copy number gain	See cases	GPathogenic
Select item 253405	GRCh37/hg19 13q12.11-34(chr13:19571503-115092569)x3	ABCC4, ABHD13 +332 more	Copy number gain	See cases	GPathogenic

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Items: 59