12732[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996876, LOC129996877 +1449 more	Copy number gain	See cases	GPathogenic
Select item 150641	GRCh38/hg38 6q16.1-22.31(chr6:96609994-122161548)x1	AFG1L, AK9 +558 more	Copy number loss	See cases	GPathogenic
Select item 155160	GRCh38/hg38 6q16.3-22.31(chr6:100054889-120488154)x1	LOC126859762, LOC126859763 +460 more	Copy number loss	See cases	GPathogenic
Select item 145430	GRCh38/hg38 6q16.3-21(chr6:102356502-111049879)x1	AFG1L, AK9 +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 3343498	NM_003931.3(WASF1):c.1676A>G (p.Glu559Gly)	WASF1 (E559G)	Single nucleotide variant (missense variant)	not provided	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 3189515	NM_003931.3(WASF1):c.1580T>C (p.Ile527Thr)	WASF1 (I527T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3350043	NM_003931.3(WASF1):c.1480A>G (p.Ile494Val)	WASF1 (I494V)	Single nucleotide variant (missense variant)	WASF1-related disorder	GUncertain significance
Select item 3255117	NM_003931.3(WASF1):c.1473del (p.Pro492fs)	WASF1 (P492fs)	Deletion (frameshift variant)	Neurodevelopmental disorder with absent language and variable seizures	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 disorder	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 disorder	GLikely benign
Select item 2656838	NM_003931.3(WASF1):c.1382C>T (p.Thr461Ile)	WASF1 (T461I)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3346532	NM_003931.3(WASF1):c.1375C>G (p.Pro459Ala)	WASF1 (P459A)	Single nucleotide variant (missense variant)	WASF1-related disorder	GUncertain significance
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 disorder	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 disorder	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 3332556	NM_003931.3(WASF1):c.1058C>G (p.Pro353Arg)	WASF1 (P353R)	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 disorder	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 3364580	NM_003931.3(WASF1):c.894-1G>T	WASF1	Single nucleotide variant (splice acceptor variant)	not provided	GUncertain significance
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)	not provided +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 3253290	NM_003931.3(WASF1):c.740A>C (p.Asp247Ala)	WASF1 (D247A)	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 3332555	NM_003931.3(WASF1):c.722C>T (p.Thr241Ile)	WASF1 (T241I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 disorder	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 3347834	NM_003931.3(WASF1):c.650A>G (p.Asp217Gly)	WASF1 (D217G)	Single nucleotide variant (missense variant)	WASF1-related disorder	GUncertain significance
Select item 2631322	NM_003931.3(WASF1):c.557G>A (p.Arg186His)	WASF1 (R186H)	Single nucleotide variant (missense variant)	WASF1-related disorder	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 3368724	NM_003931.3(WASF1):c.358C>A (p.Pro120Thr)	WASF1 (P120T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2635819	NM_003931.3(WASF1):c.341G>C (p.Arg114Pro)	WASF1 (R114P)	Single nucleotide variant (missense variant)	WASF1-related disorder	GUncertain significance
Select item 3189517	NM_003931.3(WASF1):c.319C>G (p.Gln107Glu)	WASF1 (Q107E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3189516	NM_003931.3(WASF1):c.311C>A (p.Ser104Tyr)	WASF1 (S104Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 3339254	NM_003931.3(WASF1):c.179A>G (p.His60Arg)	WASF1 (H60R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2358705	NM_003931.3(WASF1):c.170A>G (p.Asn57Ser)	WASF1 (N57S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
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)	AFG1L, AK9 +98 more	Copy number loss	not specified	GPathogenic
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +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	PREP, QRSL1 +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)	AARS2, ABCC10 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	RING1, RIOK1 +1028 more	Copy number gain	See cases	GPathogenic

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