MAN1A1[gene] - ClinVar

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Items: 64

	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 153088	GRCh38/hg38 6q21-22.31(chr6:106503719-125781219)x1	AFG1L, AK9 +472 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 58442	GRCh38/hg38 6q22.1-22.33(chr6:115601230-128514324)x1	LOC129389639, LOC129389640 +254 more	Copy number loss	See cases	GPathogenic
Select item 1703230	Single allele	AKAP7, ARG1 +400 more	Deletion	Interstitial 6q microdeletion syndrome	GPathogenic
Select item 151218	GRCh38/hg38 6q22.1-22.31(chr6:116815199-119718887)x1	ASF1A, CEP85L +68 more	Copy number loss	See cases	GLikely pathogenic
Select item 148658	GRCh38/hg38 6q22.1-22.32(chr6:117607147-126699980)x3	LOC129997072, LOC129997073 +147 more	Copy number gain	See cases	GPathogenic
Select item 59530	GRCh38/hg38 6q22.31(chr6:118509086-119604498)x3	ASF1A, CEP85L +32 more	Copy number gain	See cases	GUncertain significance
Select item 148235	GRCh38/hg38 6q22.31(chr6:118953443-120037496)x3	FAM184A, LOC105377975 +15 more	Copy number gain	See cases	GLikely benign
Select item 58443	GRCh38/hg38 6q22.31(chr6:118975015-125713307)x1	CLVS2, FABP7 +91 more	Copy number loss	See cases	GPathogenic
Select item 716140	NM_005907.4(MAN1A1):c.1951A>G (p.Arg651Gly)	MAN1A1 (R651G)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 3292800	NM_005907.4(MAN1A1):c.1949T>A (p.Ile650Asn)	MAN1A1 (I650N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122450	NM_005907.4(MAN1A1):c.1942G>C (p.Val648Leu)	MAN1A1 (V648L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2295627	NM_005907.4(MAN1A1):c.1877T>C (p.Leu626Pro)	MAN1A1 (L626P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122449	NM_005907.4(MAN1A1):c.1861G>A (p.Asp621Asn)	MAN1A1 (D621N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122448	NM_005907.4(MAN1A1):c.1780C>T (p.Leu594Phe)	MAN1A1 (L594F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122447	NM_005907.4(MAN1A1):c.1691A>T (p.Tyr564Phe)	MAN1A1 (Y564F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2258210	NM_005907.4(MAN1A1):c.1628T>A (p.Ile543Asn)	MAN1A1 (I543N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723482	NM_005907.4(MAN1A1):c.1536T>C (p.Tyr512=)	MAN1A1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3122446	NM_005907.4(MAN1A1):c.1516C>G (p.Arg506Gly)	MAN1A1 (R506G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292802	NM_005907.4(MAN1A1):c.1432G>A (p.Ala478Thr)	MAN1A1 (A478T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254687	NM_005907.4(MAN1A1):c.1400T>C (p.Leu467Pro)	MAN1A1 (L467P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257087	NM_005907.4(MAN1A1):c.1370C>G (p.Thr457Ser)	MAN1A1 (T457S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342400	NM_005907.4(MAN1A1):c.1363G>A (p.Gly455Arg)	MAN1A1 (G455R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475971	NM_005907.4(MAN1A1):c.1330A>G (p.Ile444Val)	MAN1A1 (I444V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 723483	NM_005907.4(MAN1A1):c.1326+8A>G	MAN1A1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 2476836	NM_005907.4(MAN1A1):c.1292T>C (p.Leu431Pro)	MAN1A1 (L431P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2292659	NM_005907.4(MAN1A1):c.1196G>A (p.Gly399Glu)	MAN1A1 (G399E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293245	NM_005907.4(MAN1A1):c.929T>C (p.Val310Ala)	MAN1A1 (V310A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223224	NM_005907.4(MAN1A1):c.874G>A (p.Ala292Thr)	MAN1A1 (A292T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292801	NM_005907.4(MAN1A1):c.805G>C (p.Asp269His)	MAN1A1 (D269H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122452	NM_005907.4(MAN1A1):c.801T>G (p.Asn267Lys)	MAN1A1 (N267K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2338294	NM_005907.4(MAN1A1):c.791T>G (p.Val264Gly)	MAN1A1 (V264G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366730	NM_005907.4(MAN1A1):c.548A>G (p.Glu183Gly)	LOC129997084, MAN1A1 (E183G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528269	NM_005907.4(MAN1A1):c.316G>A (p.Glu106Lys)	MAN1A1 (E106K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2271963	NM_005907.4(MAN1A1):c.308G>A (p.Arg103Gln)	MAN1A1 (R103Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292799	NM_005907.4(MAN1A1):c.304G>A (p.Ala102Thr)	MAN1A1 (A102T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288941	NM_005907.4(MAN1A1):c.280G>A (p.Ala94Thr)	MAN1A1 (A94T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2364550	NM_005907.4(MAN1A1):c.235G>A (p.Ala79Thr)	LOC129997085, MAN1A1 (A79T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330844	NM_005907.4(MAN1A1):c.220T>G (p.Phe74Val)	LOC129997085, MAN1A1 (F74V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2268171	NM_005907.4(MAN1A1):c.211G>C (p.Gly71Arg)	LOC129997085, MAN1A1 (G71R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3122445	NM_005907.4(MAN1A1):c.127G>C (p.Val43Leu)	MAN1A1 (V43L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407100	NM_005907.4(MAN1A1):c.116C>T (p.Thr39Met)	MAN1A1 (T39M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492441	NM_005907.4(MAN1A1):c.115A>T (p.Thr39Ser)	MAN1A1 (T39S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292803	NM_005907.4(MAN1A1):c.61G>C (p.Gly21Arg)	LOC129997086, MAN1A1 (G21R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2598161	NM_005907.4(MAN1A1):c.40G>A (p.Ala14Thr)	LOC129997086, MAN1A1 (A14T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3292798	NM_005907.4(MAN1A1):c.10G>A (p.Gly4Arg)	LOC129997086, MAN1A1 (G4R)	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 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 1810324	GRCh37/hg19 6q22.31(chr6:119243634-126078530)x1	CLVS2, FABP7 +16 more	Copy number loss	not provided	Gnot provided
Select item 1527263	GRCh37/hg19 6q14.3-22.31(chr6:85988428-120548687)	AFG1L, AK9 +138 more	Copy number loss	not specified	GPathogenic
Select item 1341103	GRCh37/hg19 6q22.1-22.31(chr6:117441803-123349672)x3	ASF1A, CEP85L +18 more	Copy number gain	not provided	GLikely pathogenic
Select item 978186	NC_000006.11:g.116734559_123648104del	ASF1A, CALHM4 +31 more	Deletion	Seizure +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 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 253788	GRCh37/hg19 6q22.31(chr6:119442943-121506177)x1	FAM184A, TBC1D32 +1 more	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 180227	NC_000006.11:g.(116681080_116735056)_(119687719_119775014)del	ASF1A, CALHM4 +22 more	Deletion	Tremor +3 more	GPathogenic

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Items: 64