TUBAL3[gene] - ClinVar

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Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155636	GRCh38/hg38 10p15.3-12.31(chr10:54086-19336980)x1	PROSER2-AS1, PRPF18 +680 more	Copy number loss	See cases	GPathogenic
Select item 154187	GRCh38/hg38 10p15.3-13(chr10:54086-13205916)x3	MIR5699, MIR6072 +496 more	Copy number gain	See cases	GPathogenic
Select item 58710	GRCh38/hg38 10p15.3-15.1(chr10:69260-6209368)x1	ADARB2, ADARB2-AS1 +276 more	Copy number loss	See cases	GPathogenic
Select item 59657	GRCh38/hg38 10p15.3-12.31(chr10:69261-19184047)x3	LOC126860819, LOC126860820 +680 more	Copy number gain	See cases	GPathogenic
Select item 150048	GRCh38/hg38 10p15.3-13(chr10:70478-13736564)x1	LOC130003277, LOC130003278 +520 more	Copy number loss	See cases	GPathogenic
Select item 146014	GRCh38/hg38 10p15.3-13(chr10:73856-12815915)x3	LOC132090805, MANCR +482 more	Copy number gain	See cases	GPathogenic
Select item 149407	GRCh38/hg38 10p15.3-12.1(chr10:90205-26339978)x3	ACBD7, ACBD7-DCLRE1CP1 +837 more	Copy number gain	See cases	GPathogenic
Select item 146220	GRCh38/hg38 10p15.3-14(chr10:90421-11713049)x3	LOC130003153, LOC130003154 +421 more	Copy number gain	See cases	GPathogenic
Select item 57431	GRCh38/hg38 10p15.3-14(chr10:90421-6769994)x3	ADARB2, ADARB2-AS1 +298 more	Copy number gain	See cases	GPathogenic
Select item 57407	GRCh38/hg38 10p15.3-14(chr10:90421-8442783)x3	ADARB2, ADARB2-AS1 +352 more	Copy number gain	See cases	GPathogenic
Select item 154099	GRCh38/hg38 10p15.3-14(chr10:1601172-9203729)x3	ADARB2, AKR1C1 +304 more	Copy number gain	See cases	GLikely pathogenic
Select item 545134	Single allele	LOC130003188, LOC130003189 +195 more	Duplication	Schizophrenia	GLikely pathogenic
Select item 152998	GRCh38/hg38 10p15.1-q11.22(chr10:4604734-48074662)x3	ABI1, ACBD5 +1221 more	Copy number gain	See cases	GBenign
Select item 146553	GRCh38/hg38 10p15.1-14(chr10:4605831-7403265)x1	AKR1C1, AKR1C2 +175 more	Copy number loss	See cases	GUncertain significance
Select item 58717	GRCh38/hg38 10p15.1-13(chr10:4802753-16823491)x1	LOC130003217, LOC130003218 +482 more	Copy number loss	See cases	GPathogenic
Select item 148178	GRCh38/hg38 10p15.1(chr10:4871826-5811361)x3	AKR1C1, AKR1C2 +52 more	Copy number gain	See cases	GUncertain significance
Select item 152194	GRCh38/hg38 10p15.1(chr10:5161663-5599060)x1	AKR1C4, AKR1C8 +27 more	Copy number loss	See cases	GLikely benign
Select item 3184738	NM_024803.3(TUBAL3):c.1337T>A (p.Phe446Tyr)	TUBAL3 (F406Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542742	NM_024803.3(TUBAL3):c.1321G>C (p.Glu441Gln)	TUBAL3 (E441Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542740	NM_024803.3(TUBAL3):c.1319A>T (p.Glu440Val)	TUBAL3 (E400V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330201	NM_024803.3(TUBAL3):c.1318G>A (p.Glu440Lys)	TUBAL3 (E400K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558240	NM_024803.3(TUBAL3):c.1238A>G (p.His413Arg)	TUBAL3 (H373R +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184736	NM_024803.3(TUBAL3):c.1218C>T (p.Tyr406=)	TUBAL3	Single nucleotide variant (synonymous variant)	not specified	GLikely benign
Select item 3184735	NM_024803.3(TUBAL3):c.1166C>T (p.Thr389Met)	TUBAL3 (T349M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2244724	NM_024803.3(TUBAL3):c.1105G>A (p.Val369Met)	TUBAL3 (V329M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640286	NM_024803.3(TUBAL3):c.1080G>A (p.Val360=)	TUBAL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2615061	NM_024803.3(TUBAL3):c.1076A>C (p.Lys359Thr)	TUBAL3 (K319T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290923	NM_024803.3(TUBAL3):c.1036C>T (p.His346Tyr)	TUBAL3 (H346Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184734	NM_024803.3(TUBAL3):c.1031C>T (p.Ser344Leu)	TUBAL3 (S344L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357044	NM_024803.3(TUBAL3):c.1018G>A (p.Ala340Thr)	TUBAL3 (A300T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770203	NM_024803.3(TUBAL3):c.1017C>T (p.Ile339=)	TUBAL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3184752	NM_024803.3(TUBAL3):c.944G>A (p.Arg315Gln)	TUBAL3 (R315Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330202	NM_024803.3(TUBAL3):c.906C>G (p.Cys302Trp)	TUBAL3 (C262W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330204	NM_024803.3(TUBAL3):c.884T>A (p.Val295Glu)	TUBAL3 (V295E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248484	NM_024803.3(TUBAL3):c.876G>C (p.Gln292His)	TUBAL3 (Q292H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466935	NM_024803.3(TUBAL3):c.844A>G (p.Ile282Val)	TUBAL3 (I242V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 806432	NM_024803.3(TUBAL3):c.838G>A (p.Ala280Thr)	TUBAL3 (A240T +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2365849	NM_024803.3(TUBAL3):c.827T>A (p.Met276Lys)	TUBAL3 (M236K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184751	NM_024803.3(TUBAL3):c.812G>T (p.Arg271Ile)	TUBAL3 (R231I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184750	NM_024803.3(TUBAL3):c.802C>A (p.Pro268Thr)	TUBAL3 (P228T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640287	NM_024803.3(TUBAL3):c.724G>A (p.Val242Ile)	TUBAL3 (V202I +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3184749	NM_024803.3(TUBAL3):c.673G>A (p.Gly225Ser)	TUBAL3 (G185S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184747	NM_024803.3(TUBAL3):c.646G>A (p.Val216Ile)	TUBAL3 (V176I +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2208818	NM_024803.3(TUBAL3):c.646G>C (p.Val216Leu)	TUBAL3 (V176L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184746	NM_024803.3(TUBAL3):c.607G>A (p.Glu203Lys)	TUBAL3 (E163K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330203	NM_024803.3(TUBAL3):c.592A>T (p.Thr198Ser)	TUBAL3 (T158S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2330489	NM_024803.3(TUBAL3):c.569A>G (p.Glu190Gly)	TUBAL3 (E190G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184745	NM_024803.3(TUBAL3):c.515C>T (p.Thr172Ile)	TUBAL3 (T132I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 770759	NM_024803.3(TUBAL3):c.471G>A (p.Thr157=)	TUBAL3	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3184744	NM_024803.3(TUBAL3):c.466T>C (p.Phe156Leu)	TUBAL3 (F116L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 776491	NM_024803.3(TUBAL3):c.405G>C (p.Gln135His)	TUBAL3 (Q95H +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 2240184	NM_024803.3(TUBAL3):c.388C>T (p.Arg130Trp)	TUBAL3 (R130W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 716803	NM_024803.3(TUBAL3):c.333G>A (p.Ala111=)	TUBAL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2383299	NM_024803.3(TUBAL3):c.331G>A (p.Ala111Thr)	TUBAL3 (A111T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184743	NM_024803.3(TUBAL3):c.285C>A (p.His95Gln)	TUBAL3 (H95Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184742	NM_024803.3(TUBAL3):c.283C>T (p.His95Tyr)	TUBAL3 (H55Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2640288	NM_024803.3(TUBAL3):c.272G>C (p.Arg91Pro)	TUBAL3 (R51P +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2487553	NM_024803.3(TUBAL3):c.271C>T (p.Arg91Cys)	TUBAL3 (R91C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507631	NM_024803.3(TUBAL3):c.270C>G (p.His90Gln)	TUBAL3 (H90Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184741	NM_024803.3(TUBAL3):c.254T>G (p.Ile85Ser)	TUBAL3 (I45S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184740	NM_024803.3(TUBAL3):c.223G>A (p.Val75Met)	TUBAL3 (V35M +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2615283	NM_024803.3(TUBAL3):c.173C>A (p.Thr58Asn)	TUBAL3 (T58N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3184739	NM_024803.3(TUBAL3):c.148G>A (p.Glu50Lys)	TUBAL3 (E10K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3330199	NM_024803.3(TUBAL3):c.103G>A (p.Val35Ile)	TUBAL3 (V35I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 806433	NM_024803.3(TUBAL3):c.55G>A (p.Ala19Thr)	TUBAL3 (A19T)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2311745	NM_024803.3(TUBAL3):c.47T>A (p.Ile16Asn)	TUBAL3 (I16N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2232058	NM_024803.3(TUBAL3):c.25A>G (p.Ile9Val)	TUBAL3 (I9V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3148909	GRCh37/hg19 10p15.3-14(chr10:1274308-12045503)x3	ADARB2, AKR1C1 +35 more	Copy number gain	See cases	GUncertain significance
Select item 1807587	GRCh37/hg19 10p15.3-13(chr10:100027-12648149)x3	CDC123, CELF2 +47 more	Copy number gain	not provided	GUncertain significance
Select item 1527575	GRCh37/hg19 10p15.3-14(chr10:2116123-8856296)	AKR1C1, AKR1C2 +29 more	Copy number gain	not specified	GUncertain significance
Select item 1340138	GRCh37/hg19 10p15.1-14(chr10:4927427-6653936)x3	AKR1C1, AKR1C2 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1339781	GRCh37/hg19 10p15.3-q11.22(chr10:135655-47688677)x4	ARL5B, LARP4B +180 more	Copy number gain	Mosaic supernumerary isodicentric chromosome 10	Gnot provided
Select item 1077184	Single allele	AKR1C1, AKR1C2 +30 more	Deletion	not provided	GPathogenic
Select item 815316	GRCh37/hg19 10p15.1(chr10:5201443-5658539)x1	NET1, CALML3 +5 more	Copy number loss	not provided	GUncertain significance
Select item 687391	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	ACBD7, ADARB2 +68 more	Copy number gain	not provided	GPathogenic
Select item 687363	GRCh37/hg19 10p15.3-13(chr10:100026-15273144)x3	WDR37, ZMYND11 +68 more	Copy number gain	not provided	GPathogenic
Select item 599307	Single allele	ITIH2, ITIH5 +72 more	Deletion	Hypoparathyroidism, deafness, renal disease syndrome	GPathogenic
Select item 443260	GRCh37/hg19 10p15.3-q11.23(chr10:100026-50961640)x3	ABI1, ACBD5 +205 more	Copy number gain	See cases	GPathogenic
Select item 442589	GRCh37/hg19 10p15.3-13(chr10:100026-12842179)x1	ADARB2, AKR1C1 +47 more	Copy number loss	See cases	GPathogenic
Select item 441987	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)	INA, INPP5A +721 more	Copy number gain	See cases	GPathogenic
Select item 441986	GRCh37/hg19 10p15.3-q26.3(chr10:100027-135427143)x3	A1CF, ABCC2 +721 more	Copy number gain	See cases	GPathogenic
Select item 395536	GRCh37/hg19 10p15.3-14(chr10:136361-8850609)x1	ADARB2, AKR1C1 +37 more	Copy number loss	See cases	GPathogenic
Select item 393995	GRCh37/hg19 10p15.3-q26.3(chr10:93297-135378918)x3	A1CF, ABCC2 +722 more	Copy number gain	See cases	GPathogenic
Select item 253524	GRCh37/hg19 10p15.3-14(chr10:2593113-8484746)x1	AKR1E2, GATA3 +29 more	Copy number loss	See cases	GPathogenic

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Items: 84