TUBE1[gene] - ClinVar

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Items: 45

	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 145596	GRCh38/hg38 6q21(chr6:111948842-112906602)x3	CCN6, FAM229B +15 more	Copy number gain	See cases	GUncertain significance
Select item 153380	GRCh38/hg38 6q21(chr6:112010915-112244218)x1	CCN6, FAM229B +10 more	Copy number loss	See cases	GUncertain significance
Select item 2358818	NM_016262.5(TUBE1):c.1393G>A (p.Val465Met)	TUBE1 (V465M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236212	NM_016262.5(TUBE1):c.1390C>A (p.Pro464Thr)	TUBE1 (P464T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330218	NM_016262.5(TUBE1):c.1387A>G (p.Met463Val)	TUBE1 (M463V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184774	NM_016262.5(TUBE1):c.1351A>G (p.Ile451Val)	TUBE1 (I451V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321350	NM_016262.5(TUBE1):c.1321A>G (p.Thr441Ala)	TUBE1 (T441A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184773	NM_016262.5(TUBE1):c.1303A>G (p.Met435Val)	TUBE1 (M435V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2298205	NM_016262.5(TUBE1):c.1300G>A (p.Gly434Arg)	TUBE1 (G434R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330220	NM_016262.5(TUBE1):c.1286A>G (p.Tyr429Cys)	TUBE1 (Y429C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2623506	NM_016262.5(TUBE1):c.1003C>T (p.Arg335Trp)	TUBE1 (R335W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184778	NM_016262.5(TUBE1):c.929C>T (p.Thr310Ile)	TUBE1 (T310I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184777	NM_016262.5(TUBE1):c.898G>A (p.Val300Met)	TUBE1 (V300M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2353206	NM_016262.5(TUBE1):c.776A>G (p.Asn259Ser)	TUBE1 (N259S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516195	NM_016262.5(TUBE1):c.709A>G (p.Lys237Glu)	TUBE1 (K237E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330219	NM_016262.5(TUBE1):c.707C>T (p.Pro236Leu)	TUBE1 (P236L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184776	NM_016262.5(TUBE1):c.511T>G (p.Tyr171Asp)	TUBE1 (Y171D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184775	NM_016262.5(TUBE1):c.443G>A (p.Gly148Glu)	TUBE1 (G148E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2371968	NM_016262.5(TUBE1):c.193T>C (p.Cys65Arg)	TUBE1 (C65R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396410	NM_016262.5(TUBE1):c.192A>G (p.Ile64Met)	TUBE1 (I64M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184772	NM_016262.5(TUBE1):c.125G>C (p.Ser42Thr)	TUBE1 (S42T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283796	NM_016262.5(TUBE1):c.13G>A (p.Val5Met)	TUBE1 (V5M)	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 3062886	GRCh37/hg19 6q21(chr6:112107860-113572662)x1	CCN6, FAM229B +4 more	Copy number loss	not specified	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 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 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 686660	GRCh37/hg19 6q21(chr6:112352198-112457238)x3	CCN6, FAM229B +2 more	Copy number gain	not provided	GUncertain significance
Select item 563221	GRCh37/hg19 6q21(chr6:112249382-113216278)x3	LAMA4, CCN6 +3 more	Copy number gain	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 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 217142	GRCh37/hg19 6q21-q22(chr6:112069445-120994664)x1	NT5DC1, TRAPPC3L +36 more	Copy number loss	6q21-6q22.1 deletion	GLikely pathogenic

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Items: 45