WASF1[gene] - ClinVar

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

Search results

Items: 85

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC123775388, LOC123775389 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	LOC129389591, LOC129389592 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC129997076, LOC129997077 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	LINC00222, LINC02526 +208 more	Copy number loss	See cases	GPathogenic
Select item 154178	GRCh38/hg38 6q16.3-21(chr6:103279465-113934239)x1	AFG1L, AK9 +297 more	Copy number loss	See cases	GPathogenic
Select item 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 more	Copy number loss	See cases	GPathogenic
Select item 148944	GRCh38/hg38 6q21-22.1(chr6:107370141-115827482)x1	AFG1L, AK9 +224 more	Copy number loss	See cases	GPathogenic
Select item 152877	GRCh38/hg38 6q21(chr6:107445281-110547907)x1	AFG1L, AK9 +104 more	Copy number loss	See cases	GPathogenic
Select item 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 151621	GRCh38/hg38 6q21(chr6:109780913-110202309)x1	CDC40, FIG4 +7 more	Copy number loss	See cases	GUncertain significance
Select item 153047	GRCh38/hg38 6q21(chr6:110020558-111200711)x3	AMD1, CDC40 +32 more	Copy number gain	See cases	GUncertain significance
Select item 1710406	NM_003931.3(WASF1):c.1613G>A (p.Arg538His)	WASF1 (R538H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 561981	NM_003931.3(WASF1):c.1558C>T (p.Gln520Ter)	WASF1 (Q520*)	Single nucleotide variant (nonsense)	Epileptic encephalopathy +2 more	GPathogenic
Select item 1707808	NM_003931.3(WASF1):c.1553G>A (p.Arg518His)	WASF1 (R518H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1709713	NM_003931.3(WASF1):c.1522G>A (p.Gly508Ser)	WASF1 (G508S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with absent language and variable seizures	GUncertain significance
Select item 561980	NM_003931.3(WASF1):c.1516C>T (p.Arg506Ter)	WASF1 (R506*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with absent language and variable seizures +1 more	GPathogenic
Select item 561982	NM_003931.3(WASF1):c.1482delinsGCCAGG (p.Ile494fs)	WASF1 (I494fs)	Indel (frameshift variant)	Neurodevelopmental disorder with absent language and variable seizures +1 more	GPathogenic
Select item 1342385	NM_003931.3(WASF1):c.1466C>G (p.Ser489Ter)	WASF1 (S489*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with absent language and variable seizures	GLikely pathogenic
Select item 2302060	NM_003931.3(WASF1):c.1459C>T (p.His487Tyr)	WASF1 (H487Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2112622	NM_003931.3(WASF1):c.1436T>C (p.Ile479Thr)	WASF1 (I479T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3042524	NM_003931.3(WASF1):c.1431A>C (p.Gln477His)	WASF1 (Q477H)	Single nucleotide variant (missense variant)	WASF1-related condition	GUncertain significance
Select item 2656837	NM_003931.3(WASF1):c.1398T>G (p.His466Gln)	WASF1 (H466Q)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3051905	NM_003931.3(WASF1):c.1385C>T (p.Ala462Val)	WASF1 (A462V)	Single nucleotide variant (missense variant)	WASF1-related condition	GLikely benign
Select item 2656838	NM_003931.3(WASF1):c.1382C>T (p.Thr461Ile)	WASF1 (T461I)	Single nucleotide variant (missense variant)	WASF1-related condition +1 more	GLikely benign
Select item 2430797	NM_003931.3(WASF1):c.1331C>T (p.Thr444Ile)	WASF1 (T444I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1314809	NM_003931.3(WASF1):c.1319C>T (p.Ser440Leu)	WASF1 (S440L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3044074	NM_003931.3(WASF1):c.1269G>A (p.Leu423=)	WASF1	Single nucleotide variant (synonymous variant)	WASF1-related condition	GLikely benign
Select item 2536100	NM_003931.3(WASF1):c.1259T>G (p.Val420Gly)	WASF1 (V420G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1299046	NM_003931.3(WASF1):c.1197A>G (p.Pro399=)	WASF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1801142	NM_003931.3(WASF1):c.1184A>G (p.Gln395Arg)	WASF1 (Q395R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2536925	NM_003931.3(WASF1):c.1153G>T (p.Ala385Ser)	WASF1 (A385S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656839	NM_003931.3(WASF1):c.1119T>G (p.Ala373=)	WASF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3038582	NM_003931.3(WASF1):c.1083T>A (p.Thr361=)	WASF1	Single nucleotide variant (synonymous variant)	WASF1-related condition	GLikely benign
Select item 2315804	NM_003931.3(WASF1):c.1060C>T (p.Pro354Ser)	WASF1 (P354S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2622676	NM_003931.3(WASF1):c.1049C>T (p.Pro350Leu)	WASF1 (P350L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473446	NM_003931.3(WASF1):c.1048C>G (p.Pro350Ala)	WASF1 (P350A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3051343	NM_003931.3(WASF1):c.1045C>T (p.Pro349Ser)	WASF1 (P349S)	Single nucleotide variant (missense variant)	WASF1-related condition	GBenign
Select item 2557163	NM_003931.3(WASF1):c.1030A>G (p.Met344Val)	WASF1 (M344V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2545067	NM_003931.3(WASF1):c.920G>A (p.Arg307His)	WASF1 (R307H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2363319	NM_003931.3(WASF1):c.919C>T (p.Arg307Cys)	WASF1 (R307C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2230130	NM_003931.3(WASF1):c.893+3A>T	WASF1	Single nucleotide variant (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 2442750	NM_003931.3(WASF1):c.839C>T (p.Pro280Leu)	WASF1 (P280L)	Single nucleotide variant (missense variant)	WASF1-related condition +1 more	GUncertain significance
Select item 2656840	NM_003931.3(WASF1):c.776A>G (p.Gln259Arg)	WASF1 (Q259R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2276070	NM_003931.3(WASF1):c.738G>T (p.Met246Ile)	WASF1 (M246I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2136226	NM_003931.3(WASF1):c.733C>G (p.His245Asp)	WASF1 (H245D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2579006	NM_003931.3(WASF1):c.725dup (p.Tyr242Ter)	WASF1 (Y242*)	Duplication (nonsense)	not provided	GUncertain significance
Select item 1691293	NM_003931.3(WASF1):c.715C>T (p.Pro239Ser)	WASF1 (P239S)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with absent language and variable seizures	GUncertain significance
Select item 743031	NM_003931.3(WASF1):c.714-3T>C	WASF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2438558	NM_003931.3(WASF1):c.708A>T (p.Glu236Asp)	WASF1 (E236D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder with absent language and variable seizures	GUncertain significance
Select item 2634520	NM_003931.3(WASF1):c.662T>C (p.Leu221Ser)	WASF1 (L221S)	Single nucleotide variant (missense variant)	WASF1-related condition	GUncertain significance
Select item 2811664	NM_003931.3(WASF1):c.656A>G (p.Asn219Ser)	WASF1 (N219S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2631322	NM_003931.3(WASF1):c.557G>A (p.Arg186His)	WASF1 (R186H)	Single nucleotide variant (missense variant)	WASF1-related condition	GUncertain significance
Select item 2656841	NM_003931.3(WASF1):c.547A>G (p.Asn183Asp)	WASF1 (N183D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2573513	NM_003931.3(WASF1):c.540+16A>T	WASF1	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 2506296	NM_003931.3(WASF1):c.493dup (p.Met165fs)	WASF1 (M165fs)	Duplication (frameshift variant)	Neurodevelopmental disorder with absent language and variable seizures	GPathogenic
Select item 1706665	NM_003931.3(WASF1):c.493A>C (p.Met165Leu)	WASF1 (M165L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 734709	NM_003931.3(WASF1):c.471C>T (p.Phe157=)	WASF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656842	NM_003931.3(WASF1):c.372G>A (p.Thr124=)	WASF1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2635819	NM_003931.3(WASF1):c.341G>C (p.Arg114Pro)	WASF1 (R114P)	Single nucleotide variant (missense variant)	WASF1-related condition	GUncertain significance
Select item 2360372	NM_003931.3(WASF1):c.313A>G (p.Thr105Ala)	WASF1 (T105A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2656843	NM_003931.3(WASF1):c.307A>G (p.Ser103Gly)	WASF1 (S103G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2504305	NM_003931.3(WASF1):c.290T>C (p.Met97Thr)	WASF1 (M97T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2305834	NM_003931.3(WASF1):c.271T>C (p.Ser91Pro)	WASF1 (S91P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2627587	NM_003931.3(WASF1):c.262G>T (p.Glu88Ter)	WASF1 (E88*)	Single nucleotide variant (nonsense)	Neurodevelopmental disorder with absent language and variable seizures	GPathogenic
Select item 2358705	NM_003931.3(WASF1):c.170A>G (p.Asn57Ser)	WASF1 (N57S)	Single nucleotide variant (missense variant)	WASF1-related condition +1 more	GLikely benign
Select item 2673075	NM_003931.3(WASF1):c.151A>G (p.Ile51Val)	WASF1 (I51V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 801360	NM_003931.3(WASF1):c.136A>T (p.Lys46Ter)	WASF1 (K46*)	Single nucleotide variant (nonsense)	Intellectual disability	GLikely pathogenic
Select item 1710690	NM_003931.3(WASF1):c.-2A>G	WASF1	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2656844	NM_003931.3(WASF1):c.-28-6C>T	WASF1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1809182	GRCh37/hg19 6q21(chr6:110098753-110491262)x3	GPR6, WASF1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1808465	GRCh37/hg19 6q21(chr6:110096791-110491262)x3	FIG4, GPR6 +1 more	Copy number gain	not provided	GUncertain significance
Select item 1527277	GRCh37/hg19 6q21-22.1(chr6:110472732-114762836)	AMD1, CCN6 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527276	GRCh37/hg19 6q21(chr6:109564793-112223595)	AK9, AMD1 +21 more	Copy number loss	not specified	GUncertain significance
Select item 1527266	GRCh37/hg19 6q15-22.2(chr6:92054891-118329651)	FBXL4, WASF1 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	CALHM4, PRDM13 +138 more	Copy number loss	not specified	GPathogenic
Select item 1048615	GRCh37/hg19 6q21(chr6:109796301-113083437)x3	AK9, AMD1 +22 more	Copy number gain	See cases	GUncertain significance
Select item 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	AFG1L, AK9 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
Select item 980218	GRCh37/hg19 6q21(chr6:110288308-110768384)x3	DDO, GPR6 +4 more	Copy number gain	not provided	GUncertain significance
Select item 974790	GRCh37/hg19 6q16.3-22.1(chr6:101296547-117004249)x3	DSE, FAM229B +69 more	Copy number gain	Microcephaly +1 more	GPathogenic
Select item 816620	GRCh37/hg19 6q21(chr6:109564694-112232351)x1	GPR6, METTL24 +21 more	Copy number loss	not provided	GUncertain significance
Select item 563218	GRCh37/hg19 6q21(chr6:110419878-111698827)x1	SLC22A16, REV3L +10 more	Copy number loss	not provided	GUncertain significance
Select item 563204	GRCh37/hg19 6q16.1-22.1(chr6:95549951-116684929)x1	AFG1L, AK9 +80 more	Copy number loss	not provided	GPathogenic
Select item 443809	GRCh37/hg19 6q21(chr6:110080484-110472732)x1	FIG4, GPR6 +1 more	Copy number loss	See cases	GUncertain significance
Select item 443497	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)	AIRN, BNIP5 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	PDE10A, PDE7B +1028 more	Copy number gain	See cases	GPathogenic

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: 85