3066[Gene ID] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150937	GRCh38/hg38 6q13-24.1(chr6:74382807-142040500)x3	LOC129996786, LOC129996787 +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 3104575	NM_001527.4(HDAC2):c.1381G>A (p.Val461Ile)	HDAC2 (V461I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2373275	NM_001527.4(HDAC2):c.1347A>C (p.Glu449Asp)	HDAC2 (E449D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3104573	NM_001527.4(HDAC2):c.1267G>A (p.Asp423Asn)	HDAC2 (D423N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3041136	NM_001527.4(HDAC2):c.1222+7T>C	HDAC2	Single nucleotide variant (intron variant)	HDAC2-related disorder	GLikely benign
Select item 3104572	NM_001527.4(HDAC2):c.1172A>G (p.His391Arg)	HDAC2 (H391R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 782745	NM_001527.4(HDAC2):c.867A>T (p.Val289=)	HDAC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 799119	NM_001527.4(HDAC2):c.829C>T (p.Leu277=)	HDAC2	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2478130	NM_001527.4(HDAC2):c.700G>T (p.Asp234Tyr)	HDAC2 (D234Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3047427	NM_001527.4(HDAC2):c.557A>C (p.Glu186Ala)	HDAC2 (E186A)	Single nucleotide variant (missense variant +1 more)	HDAC2-related disorder	GUncertain significance
Select item 3045365	NM_001527.4(HDAC2):c.497+8A>C	HDAC2	Single nucleotide variant (intron variant)	HDAC2-related disorder	GLikely benign
Select item 3041082	NM_001527.4(HDAC2):c.359-9A>G	HDAC2	Single nucleotide variant (intron variant)	HDAC2-related disorder	GLikely benign
Select item 992209	NM_001527.4(HDAC2):c.323T>C (p.Phe108Ser)	HDAC2 (F108S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 977282	NM_001527.4(HDAC2):c.290T>C (p.Val97Ala)	HDAC2 (V97A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 735937	NM_001527.4(HDAC2):c.284-9C>A	HDAC2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3104576	NM_001527.4(HDAC2):c.172C>T (p.His58Tyr)	HDAC2 (H58Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 521716	NM_001527.4(HDAC2):c.93G>A (p.Met31Ile)	HDAC2 (M31I)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 778921	NM_001527.4(HDAC2):c.53-7A>G	HDAC2	Single nucleotide variant (intron variant)	not provided	GBenign
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)	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 981211	GRCh37/hg19 6q16.1-21(chr6:98949950-114533905)x1	AFG1L, AK9 +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)	TAAR8, TAAR9 +1028 more	Copy number gain	See cases	GPathogenic
Select item 443496	GRCh37/hg19 6p25.3-q27(chr6:156975-170919482)x3	VPS52, VTA1 +1028 more	Copy number gain	See cases	GPathogenic
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: 43