MARCKS[gene] - ClinVar

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Items: 71

	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 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 57486	GRCh38/hg38 6q21-23.2(chr6:108944899-132067720)x1	AK9, AKAP7 +519 more	Copy number loss	See cases	GPathogenic
Select item 2579265	GRCh38/hg38 6q21-23.1(chr6:113857248-130442177)x1	ARHGAP18, ASF1A +316 more	Copy number loss	Intellectual disability, autosomal dominant 55, with seizures	GPathogenic
Select item 2379373	NM_002356.7(MARCKS):c.25G>A (p.Ala9Thr)	MARCKS (A9T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271696	NM_002356.7(MARCKS):c.76T>A (p.Ser26Thr)	MARCKS (S26T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391748	NM_002356.7(MARCKS):c.203A>C (p.Asp68Ala)	MARCKS (D68A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610717	NM_002356.7(MARCKS):c.214C>T (p.Pro72Ser)	MARCKS (P72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123563	NM_002356.7(MARCKS):c.239C>T (p.Ala80Val)	MARCKS (A80V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123564	NM_002356.7(MARCKS):c.256G>A (p.Glu86Lys)	MARCKS (E86K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2480720	NM_002356.7(MARCKS):c.262G>A (p.Gly88Ser)	MARCKS (G88S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2350610	NM_002356.7(MARCKS):c.269C>T (p.Pro90Leu)	MARCKS (P90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548544	NM_002356.7(MARCKS):c.271G>C (p.Ala91Pro)	MARCKS (A91P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548545	NM_002356.7(MARCKS):c.272C>T (p.Ala91Val)	MARCKS (A91V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293310	NM_002356.7(MARCKS):c.278C>T (p.Ala93Val)	MARCKS (A93V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123565	NM_002356.7(MARCKS):c.299C>A (p.Ala100Asp)	MARCKS (A100D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3293309	NM_002356.7(MARCKS):c.343G>A (p.Glu115Lys)	MARCKS (E115K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123566	NM_002356.7(MARCKS):c.345G>T (p.Glu115Asp)	MARCKS (E115D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123567	NM_002356.7(MARCKS):c.346C>G (p.Pro116Ala)	MARCKS (P116A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2408254	NM_002356.7(MARCKS):c.347C>G (p.Pro116Arg)	MARCKS (P116R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344195	NM_002356.7(MARCKS):c.356C>T (p.Pro119Leu)	MARCKS (P119L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2273241	NM_002356.7(MARCKS):c.425C>A (p.Ala142Asp)	MARCKS (A142D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387510	NM_002356.7(MARCKS):c.428C>T (p.Thr143Met)	MARCKS (T143M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 724957	NM_002356.7(MARCKS):c.450C>T (p.Thr150=)	MARCKS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3123569	NM_002356.7(MARCKS):c.542G>T (p.Gly181Val)	MARCKS (G181V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 774449	NM_002356.7(MARCKS):c.546TGAGGC[3] (p.183EA[3])	MARCKS	Microsatellite (inframe_insertion)	not provided	GBenign
Select item 2508662	NM_002356.7(MARCKS):c.551C>T (p.Ala184Val)	MARCKS (A184V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224736	NM_002356.7(MARCKS):c.554A>G (p.Glu185Gly)	MARCKS (E185G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211260	NM_002356.7(MARCKS):c.575G>A (p.Gly192Asp)	MARCKS (G192D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123570	NM_002356.7(MARCKS):c.580G>A (p.Asp194Asn)	MARCKS (D194N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2545899	NM_002356.7(MARCKS):c.602C>A (p.Ala201Asp)	MARCKS (A201D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 521555	NM_002356.7(MARCKS):c.616_632del (p.Glu206fs)	MARCKS (E206fs)	Deletion (frameshift variant)	not specified	GLikely pathogenic
Select item 3123571	NM_002356.7(MARCKS):c.665C>A (p.Ala222Glu)	MARCKS (A222E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770556	NM_002356.7(MARCKS):c.681G>T (p.Glu227Asp)	MARCKS (E227D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2237965	NM_002356.7(MARCKS):c.689C>T (p.Ala230Val)	MARCKS (A230V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776147	NM_002356.7(MARCKS):c.749C>T (p.Pro250Leu)	MARCKS (P250L)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2543337	NM_002356.7(MARCKS):c.773C>T (p.Ala258Val)	MARCKS (A258V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227844	NM_002356.7(MARCKS):c.784A>G (p.Ser262Gly)	MARCKS (S262G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340380	NM_002356.7(MARCKS):c.790G>C (p.Val264Leu)	MARCKS (V264L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2656860	NM_002356.7(MARCKS):c.834C>T (p.Ala278=)	MARCKS	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3123572	NM_002356.7(MARCKS):c.851C>T (p.Ala284Val)	MARCKS (A284V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123573	NM_002356.7(MARCKS):c.872C>G (p.Pro291Arg)	MARCKS (P291R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123574	NM_002356.7(MARCKS):c.875A>C (p.Glu292Ala)	MARCKS (E292A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374776	NM_002356.7(MARCKS):c.878A>C (p.Gln293Pro)	MARCKS (Q293P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388275	NM_002356.7(MARCKS):c.881A>C (p.Glu294Ala)	MARCKS (E294A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549456	NM_002356.7(MARCKS):c.917C>A (p.Ala306Asp)	MARCKS (A306D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351227	NM_002356.7(MARCKS):c.955C>T (p.Pro319Ser)	MARCKS (P319S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211624	NM_002356.7(MARCKS):c.979C>G (p.Pro327Ala)	MARCKS (P327A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242312	GRCh37/hg19 6q21-22.31(chr6:109324789-124836619)x1	AK9, AMD1 +70 more	Copy number loss	not provided	GPathogenic
Select item 3062897	GRCh37/hg19 6q21-22.1(chr6:112880792-114834230)x1	HDAC2, HS3ST5 +1 more	Copy number loss	not specified	GUncertain significance
Select item 3062896	GRCh37/hg19 6q21-23.2(chr6:110546061-131896074)x3	AKAP7, AMD1 +87 more	Copy number gain	not specified	GLikely pathogenic
Select item 2574685	GRCh37/hg19 6q21-22.31(chr6:112713854-124105184)	ASF1A, CALHM4 +39 more	Copy number loss	6q terminal deletion syndrome	GLikely pathogenic
Select item 1527277	GRCh37/hg19 6q21-22.1(chr6:110472732-114762836)	AMD1, CCN6 +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 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	PREP, QRSL1 +66 more	Copy number loss	Deletion 6q16 q21	GPathogenic
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 688010	GRCh37/hg19 6q21-22.31(chr6:110981075-119608396)x1	AMD1, ASF1A +45 more	Copy number loss	not provided	GPathogenic
Select item 685494	GRCh37/hg19 6q21-22.1(chr6:113852057-115514875)x1	HDAC2, HS3ST5 +1 more	Copy number loss	not provided	GUncertain significance
Select item 563222	GRCh37/hg19 6q21-22.1(chr6:113261042-117842826)x1	CALHM4, CALHM5 +21 more	Copy number loss	not provided	GPathogenic
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 523159	GRCh37/hg19 6q21-23.2(chr6:112939290-132327952)x1	EPB41L2, FABP7 +73 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
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
Select item 441935	GRCh37/hg19 6q21(chr6:113987131-114212188)x1	MARCKS	Copy number loss	See cases	GUncertain significance
Select item 217142	GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1	NT5DC1, TRAPPC3L +36 more	Copy number loss	6q21-6q22.1 deletion	GLikely pathogenic
Select item 180224	NC_000006.11:g.(112511751_112511752)_(118037595_118037596)del	KPNA5, LAMA4 +25 more	Deletion	Delayed speech and language development +2 more	GPathogenic

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Items: 71