ClinVar for Gene (Select 7280) - ClinVar - NCBI

Warning: The NCBI web site requires JavaScript to function. more...

Links from Gene

Items: 1 to 100 of 376

<< First< Prev

Page of 4

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3370550	NM_001069.3(TUBB2A):c.485G>A (p.Arg162His)	TUBB2A (R162H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367561	NM_001069.3(TUBB2A):c.1306T>G (p.Phe436Val)	TUBB2A (F351V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3364731	NM_001069.3(TUBB2A):c.244G>A (p.Gly82Ser)	TUBB2A (G82S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3363701	NM_001069.3(TUBB2A):c.518C>G (p.Pro173Arg)	TUBB2A (P173R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 3361563	NM_001069.3(TUBB2A):c.1329C>A (p.Asp443Glu)	TUBB2A (D358E +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343922	NM_001069.3(TUBB2A):c.853A>C (p.Thr285Pro)	TUBB2A (T200P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3343921	NM_001069.3(TUBB2A):c.769A>C (p.Met257Leu)	TUBB2A (M172L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3342978	NM_001069.3(TUBB2A):c.7G>A (p.Glu3Lys)	LOC129995635, TUBB2A (E3K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3342973	NM_001069.3(TUBB2A):c.937G>A (p.Val313Met)	TUBB2A (V228M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3340964	NM_001069.3(TUBB2A):c.413C>G (p.Ser138Cys)	TUBB2A (S138C +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3339795	NM_001069.3(TUBB2A):c.166+13A>G	TUBB2A	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3330205	NM_001069.3(TUBB2A):c.515C>T (p.Ser172Leu)	TUBB2A (S172L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253360	NM_001069.3(TUBB2A):c.329C>T (p.Ala110Val)	TUBB2A (A110V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3253211	NM_001069.3(TUBB2A):c.1157C>T (p.Thr386Met)	TUBB2A (T301M +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3236669	NM_001069.3(TUBB2A):c.609T>G (p.Asp203Glu)	TUBB2A (D118E +1 more)	Single nucleotide variant (missense variant)	Complex cortical dysplasia with other brain malformations 5	GUncertain significance
Select item 3067582	NM_001069.3(TUBB2A):c.1054G>T (p.Ala352Ser)	TUBB2A (A267S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3063690	NM_001069.3(TUBB2A):c.228C>T (p.Val76=)	TUBB2A	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3062932	GRCh37/hg19 6p25.3-25.1(chr6:156974-4338899)x1	BPHL, C6orf201 +25 more	Copy number loss	not specified	GPathogenic
Select item 3062928	GRCh37/hg19 6p25.3-25.2(chr6:156974-3175378)x3	BPHL, DUSP22 +16 more	Copy number gain	not specified	GPathogenic
Select item 3056130	NM_001069.3(TUBB2A):c.150C>T (p.Tyr50=)	TUBB2A	Single nucleotide variant (synonymous variant +1 more)	TUBB2A-related disorder	GLikely benign
Select item 3051708	NM_001069.3(TUBB2A):c.141C>T (p.Ile47=)	TUBB2A	Single nucleotide variant (synonymous variant +1 more)	TUBB2A-related disorder	GLikely benign
Select item 3045234	NM_001069.3(TUBB2A):c.166+9C>T	TUBB2A	Single nucleotide variant (intron variant)	TUBB2A-related disorder	GLikely benign
Select item 3032980	NM_001069.3(TUBB2A):c.278-31T>C	TUBB2A	Single nucleotide variant (5 prime UTR variant +1 more)	TUBB2A-related disorder	GLikely benign
Select item 3026915	NM_001069.3(TUBB2A):c.391C>T (p.Gln131Ter)	TUBB2A (Q131* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 3012898	NM_001069.3(TUBB2A):c.184C>T (p.Arg62Trp)	TUBB2A (R62W)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3002885	NM_001069.3(TUBB2A):c.1291G>A (p.Asp431Asn)	TUBB2A (D431N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2999864	NM_001069.3(TUBB2A):c.1233C>T (p.Ala411=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2998214	NM_001069.3(TUBB2A):c.167-10T>C	TUBB2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2982258	NM_001069.3(TUBB2A):c.1249G>A (p.Asp417Asn)	TUBB2A (D332N +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2967519	NM_001069.3(TUBB2A):c.1332G>A (p.Glu444=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2965520	NM_001069.3(TUBB2A):c.750G>A (p.Leu250=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2910053	NM_001069.3(TUBB2A):c.1062C>T (p.Cys354=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2903859	NM_001069.3(TUBB2A):c.33G>A (p.Gln11=)	LOC129995635, TUBB2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2903483	NM_001069.3(TUBB2A):c.278-6T>C	TUBB2A (L6P)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 2894972	NM_001069.3(TUBB2A):c.1290C>A (p.Ala430=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882187	NM_001069.3(TUBB2A):c.718C>T (p.Leu240=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2882138	NM_001069.3(TUBB2A):c.330C>T (p.Ala110=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878211	NM_001069.3(TUBB2A):c.384C>T (p.Asp128=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2866119	NM_001069.3(TUBB2A):c.22C>T (p.Gln8Ter)	LOC129995635, TUBB2A (Q8*)	Single nucleotide variant (nonsense +1 more)	not provided	GUncertain significance
Select item 2865009	NM_001069.3(TUBB2A):c.254T>A (p.Phe85Tyr)	TUBB2A (F85Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2865008	NM_001069.3(TUBB2A):c.258A>G (p.Arg86=)	TUBB2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2861046	NM_001069.3(TUBB2A):c.1026G>A (p.Val342=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2860284	NM_001069.3(TUBB2A):c.834C>T (p.Ser278=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2857024	NM_001069.3(TUBB2A):c.767A>G (p.Asn256Ser)	TUBB2A (N171S +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2849892	NM_001069.3(TUBB2A):c.900G>A (p.Met300Ile)	TUBB2A (M215I +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2836745	NM_001069.3(TUBB2A):c.735G>A (p.Gln245=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2831968	NM_001069.3(TUBB2A):c.921C>T (p.His307=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2822963	NM_001069.3(TUBB2A):c.256A>G (p.Arg86Gly)	TUBB2A (R86G)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2819261	NM_001069.3(TUBB2A):c.1114A>C (p.Thr372Pro)	TUBB2A (T372P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2817200	NM_001069.3(TUBB2A):c.1002G>C (p.Gln334His)	TUBB2A (Q334H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2814245	NM_001069.3(TUBB2A):c.1002G>A (p.Gln334=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2813520	NM_001069.3(TUBB2A):c.1324G>T (p.Glu442Ter)	TUBB2A (E357* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2810141	NM_001069.3(TUBB2A):c.1289C>T (p.Ala430Val)	TUBB2A (A430V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2808271	NM_001069.3(TUBB2A):c.282G>C (p.Gln94His)	TUBB2A (Q9H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2806146	NM_001069.3(TUBB2A):c.819G>C (p.Leu273=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2802909	NM_001069.3(TUBB2A):c.1140C>T (p.Arg380=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801094	NM_001069.3(TUBB2A):c.1197G>A (p.Thr399=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2799110	NM_001069.3(TUBB2A):c.277+17A>G	TUBB2A	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2793314	NM_001069.3(TUBB2A):c.753C>G (p.Arg251=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2783628	NM_001069.3(TUBB2A):c.939G>T (p.Val313=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2780637	NM_001069.3(TUBB2A):c.1092G>C (p.Ser364=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2772245	NM_001069.3(TUBB2A):c.1219G>T (p.Glu407Ter)	TUBB2A (E407* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2770909	NM_001069.3(TUBB2A):c.377G>A (p.Ser126Asn)	TUBB2A (S41N +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2769616	NM_001069.3(TUBB2A):c.834C>G (p.Ser278Arg)	TUBB2A (S278R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2767481	NM_001069.3(TUBB2A):c.906C>T (p.Ala302=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2765988	NM_001069.3(TUBB2A):c.708C>T (p.Val236=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2764517	NM_001069.3(TUBB2A):c.178G>A (p.Val60Ile)	TUBB2A (V60I)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2763338	NM_001069.3(TUBB2A):c.18C>T (p.His6=)	LOC129995635, TUBB2A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2758129	NM_001069.3(TUBB2A):c.178G>T (p.Val60Leu)	TUBB2A (V60L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2756291	NM_001069.3(TUBB2A):c.220G>T (p.Asp74Tyr)	TUBB2A (D74Y)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2747316	NM_001069.3(TUBB2A):c.861C>T (p.Pro287=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2745560	NM_001069.3(TUBB2A):c.278-7C>G	TUBB2A (L6V)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2739731	NM_001069.3(TUBB2A):c.1294G>A (p.Glu432Lys)	TUBB2A (E432K +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2735156	NM_001069.3(TUBB2A):c.301T>A (p.Trp101Arg)	TUBB2A (W101R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732898	NM_001069.3(TUBB2A):c.1153T>C (p.Phe385Leu)	TUBB2A (F300L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2732651	NM_001069.3(TUBB2A):c.1008G>T (p.Lys336Asn)	TUBB2A (K251N +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2728043	NM_001069.3(TUBB2A):c.975G>A (p.Glu325=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2723300	NM_001069.3(TUBB2A):c.1310AGG[3] (p.Glu440del)	TUBB2A (E440del +1 more)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2721423	NM_001069.3(TUBB2A):c.804C>T (p.Pro268=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2702650	NM_001069.3(TUBB2A):c.402G>A (p.Gln134=)	TUBB2A	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2700863	NM_001069.3(TUBB2A):c.1333G>C (p.Ala445Pro)	TUBB2A (A360P +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2684439	GRCh37/hg19 6p25.3-22.3(chr6:156975-15478095)x3	ADTRP, BLOC1S5 +73 more	Copy number gain	not provided	GPathogenic
Select item 2663576	NM_001069.3(TUBB2A):c.-6G>T	LOC129995635, TUBB2A	Single nucleotide variant (5 prime UTR variant)	not provided	GUncertain significance
Select item 2662878	NM_001069.3(TUBB2A):c.904G>A (p.Ala302Thr)	TUBB2A (A217T +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2632660	NM_001069.3(TUBB2A):c.590A>C (p.Asp197Ala)	TUBB2A (D112A +1 more)	Single nucleotide variant (missense variant)	TUBB2A-related disorder	GUncertain significance
Select item 2583165	Single allele	BPHL, C6orf201 +140 more	Inversion	Anophthalmia-microphthalmia syndrome	GLikely pathogenic
Select item 2581897	NM_001069.3(TUBB2A):c.344C>T (p.Ser115Leu)	TUBB2A (S115L +1 more)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2580489	NM_001069.3(TUBB2A):c.230G>A (p.Arg77Lys)	TUBB2A (R77K)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2576684	NM_001069.3(TUBB2A):c.563_564delinsTG (p.Ser188Leu)	TUBB2A (S103L +1 more)	Indel (missense variant)	not provided	GUncertain significance
Select item 2574287	NM_001069.3(TUBB2A):c.208C>T (p.Pro70Ser)	TUBB2A (P70S)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2571270	GRCh37/hg19 6p25.3-25.2(chr6:393153-3751765)x1	BPHL, EXOC2 +19 more	Copy number loss	not provided	GPathogenic
Select item 2546801	NM_001069.3(TUBB2A):c.446C>T (p.Thr149Ile)	TUBB2A (T149I +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505813	NM_001069.3(TUBB2A):c.666C>A (p.Tyr222Ter)	TUBB2A (Y137* +1 more)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 2503405	NM_001069.3(TUBB2A):c.270C>G (p.Phe90Leu)	TUBB2A (F90L)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2499861	NM_001069.3(TUBB2A):c.809T>C (p.Phe270Ser)	TUBB2A (F185S +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2443591	NM_001069.3(TUBB2A):c.1052C>T (p.Thr351Met)	TUBB2A (T266M +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2442425	NM_001069.3(TUBB2A):c.487A>G (p.Ile163Val)	TUBB2A (I163V +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2430935	NM_001069.3(TUBB2A):c.935C>G (p.Thr312Arg)	TUBB2A (T227R +1 more)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 2428890	NM_001069.3(TUBB2A):c.785G>A (p.Arg262His)	TUBB2A (R177H +1 more)	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 2425169	NC_000006.11:g.(?_2833842)_(3227777_?)del	BPHL, NQO2 +6 more	Deletion	not provided	GUncertain significance

<< First< Prev

Page of 4