Full data view for gene TUBB3

Information The variants shown are described using the NM_006086.3 transcript reference sequence.

133 entries on 2 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2     Next › Last »

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Allele     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Template     

Technique     

Tissue     

Remarks     

Disease     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Panel size     

Owner     
-?/. - c.-4156C>T r.(?) p.(=) Unknown - likely benign g.89985654C>T g.89919246C>T MC1R(NM_002386.4):c.-13C>T - MC1R_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4077C>T r.(?) p.(=) Unknown - VUS g.89985733C>T g.89919325C>T MC1R(NM_002386.4):c.67C>T (p.Q23*) - MC1R_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4058dup r.(?) p.(=) Unknown - VUS g.89985752dup g.89919344dup MC1R(NM_002386.3):c.86dup (p.(Asn29Lysfs*14)), MC1R(NM_002386.3):c.86dupA (p.N29Kfs*14) - MC1R_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4058dup r.(?) p.(=) Unknown - VUS g.89985752dup g.89919344dup MC1R(NM_002386.3):c.86dup (p.(Asn29Lysfs*14)), MC1R(NM_002386.3):c.86dupA (p.N29Kfs*14) - MC1R_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-4032G>A r.(?) p.(=) Unknown - VUS g.89985778G>A g.89919370G>A MC1R(NM_002386.3):c.112G>A (p.(Val38Met)) - MC1R_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3966G>T r.(?) p.(=) Unknown - benign g.89985844G>T g.89919436G>T MC1R(NM_002386.4):c.178G>T (p.V60L) - MC1R_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3965T>C r.(?) p.(=) Unknown - VUS g.89985845T>C - MC1R(NM_002386.3):c.179T>C (p.V60A) - MC1R_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3897T>C r.(?) p.(=) Unknown - VUS g.89985913T>C g.89919505T>C MC1R(NM_002386.3):c.247T>C (p.(Ser83Pro)) - MC1R_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3892C>A r.(?) p.(=) Unknown - likely benign g.89985918C>A g.89919510C>A MC1R(NM_002386.3):c.252C>A (p.(Asp84Glu)), MC1R(NM_002386.4):c.252C>A (p.D84E) - MC1R_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3892C>A r.(?) p.(=) Unknown - likely benign g.89985918C>A - MC1R(NM_002386.3):c.252C>A (p.(Asp84Glu)), MC1R(NM_002386.4):c.252C>A (p.D84E) - MC1R_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3870G>A r.(?) p.(=) Unknown - benign g.89985940G>A g.89919532G>A MC1R(NM_002386.4):c.274G>A (p.V92M) - MC1R_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3860C>T r.(?) p.(=) Unknown - benign g.89985950C>T g.89919542C>T MC1R(NM_002386.3):c.284C>T (p.T95M, p.(Thr95Met)), MC1R(NM_002386.4):c.284C>T (p.T95M) - MC1R_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3860C>T r.(?) p.(=) Unknown - likely benign g.89985950C>T g.89919542C>T MC1R(NM_002386.3):c.284C>T (p.T95M, p.(Thr95Met)), MC1R(NM_002386.4):c.284C>T (p.T95M) - MC1R_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3860C>T r.(?) p.(=) Unknown - likely benign g.89985950C>T g.89919542C>T MC1R(NM_002386.3):c.284C>T (p.T95M, p.(Thr95Met)), MC1R(NM_002386.4):c.284C>T (p.T95M) - MC1R_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3834G>A r.(?) p.(=) Unknown - VUS g.89985976G>A g.89919568G>A MC1R(NM_002386.4):c.310G>A (p.G104S) - MC1R_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3811G>A r.(?) p.(=) Unknown - likely benign g.89985999G>A g.89919591G>A MC1R(NM_002386.3):c.333G>A (p.A111=) - MC1R_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3810G>A r.(?) p.(=) Unknown - likely benign g.89986000G>A g.89919592G>A MC1R(NM_002386.3):c.334G>A (p.V112M) - MC1R_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3752G>A r.(?) p.(=) Unknown - VUS g.89986058G>A g.89919650G>A MC1R(NM_002386.4):c.392G>A (p.S131N) - MC1R_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3745C>T r.(?) p.(=) Unknown - benign g.89986065C>T g.89919657C>T MC1R(NM_002386.4):c.399C>T (p.C133=) - MC1R_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3729G>A r.(?) p.(=) Unknown - VUS g.89986081G>A g.89919673G>A MC1R(NM_002386.3):c.415G>A (p.A139T) - MC1R_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3719G>A r.(?) p.(=) Unknown - likely benign g.89986091G>A g.89919683G>A MC1R(NM_002386.3):c.425G>A (p.R142H), MC1R(NM_002386.4):c.425G>A (p.R142H, p.(Arg142His)) - MC1R_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3719G>A r.(?) p.(=) Unknown - likely benign g.89986091G>A g.89919683G>A MC1R(NM_002386.3):c.425G>A (p.R142H), MC1R(NM_002386.4):c.425G>A (p.R142H, p.(Arg142His)) - MC1R_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3719G>A r.(?) p.(=) Unknown - likely benign g.89986091G>A g.89919683G>A MC1R(NM_002386.3):c.425G>A (p.R142H), MC1R(NM_002386.4):c.425G>A (p.R142H, p.(Arg142His)) - MC1R_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3699G>A r.(?) p.(=) Unknown - VUS g.89986111G>A g.89919703G>A MC1R(NM_002386.3):c.445G>A (p.A149T) - MC1R_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3693C>T r.(?) p.(=) Unknown - benign g.89986117C>T g.89919709C>T MC1R(NM_002386.3):c.451C>T (p.(Arg151Cys)), MC1R(NM_002386.4):c.451C>T (p.R151C) - MC1R_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3693C>T r.(?) p.(=) Unknown - likely benign g.89986117C>T g.89919709C>T MC1R(NM_002386.3):c.451C>T (p.(Arg151Cys)), MC1R(NM_002386.4):c.451C>T (p.R151C) - MC1R_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3691C>G r.(?) p.(=) Unknown - VUS g.89986119C>G g.89919711C>G MC1R(NM_002386.4):c.453C>G (p.R151=) - MC1R_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-3688C>A r.(?) p.(=) Unknown - pathogenic g.89986122C>A g.89919714C>A MC1R(NM_002386.3):c.456C>A (p.Y152*) - MC1R_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3680T>C r.(?) p.(=) Unknown - benign g.89986130T>C - MC1R(NM_002386.4):c.464T>C (p.(Ile155Thr)) - MC1R_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3677T>C r.(?) p.(=) Unknown - VUS g.89986133T>C g.89919725T>C MC1R(NM_002386.3):c.467T>C (p.V156A) - MC1R_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3666C>T r.(?) p.(=) Unknown - benign g.89986144C>T g.89919736C>T MC1R(NM_002386.4):c.478C>T (p.R160W, p.(Arg160Trp)) - MC1R_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3666C>T r.(?) p.(=) Unknown - likely benign g.89986144C>T - MC1R(NM_002386.4):c.478C>T (p.R160W, p.(Arg160Trp)) - MC1R_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3647C>G r.(?) p.(=) Unknown - likely benign g.89986163C>G g.89919755C>G MC1R(NM_002386.3):c.497C>G (p.(Ala166Gly)) - MC1R_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3629G>T r.(?) p.(=) Unknown - VUS g.89986181G>T - MC1R(NM_002386.3):c.515G>T (p.S172I) - MC1R_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3613G>A r.(?) p.(=) Unknown - benign g.89986197G>A g.89919789G>A MC1R(NM_002386.4):c.531G>A (p.T177=) - MC1R_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3589C>T r.(?) p.(=) Unknown - benign g.89986221C>T g.89919813C>T MC1R(NM_002386.4):c.555C>T (p.H185=) - MC1R_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3492G>A r.(?) p.(=) Unknown - VUS g.89986318G>A g.89919910G>A MC1R(NM_002386.4):c.652G>A (p.A218T) - MC1R_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3482T>C r.(?) p.(=) Unknown - VUS g.89986328T>C g.89919920T>C MC1R(NM_002386.4):c.662T>C (p.I221T) - MC1R_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3445G>A r.(?) p.(=) Unknown - benign g.89986365G>A g.89919957G>A MC1R(NM_002386.3):c.699G>A (p.Q233=) - MC1R_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3388C>T r.(?) p.(=) Unknown - benign g.89986422C>T g.89920014C>T MC1R(NM_002386.4):c.756C>T (p.L252=) - MC1R_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-3352C>T r.(?) p.(=) Unknown - benign g.89986458C>T g.89920050C>T MC1R(NM_002386.3):c.792C>T (p.I264=), MC1R(NM_002386.4):c.792C>T (p.I264=) - MC1R_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3352C>T r.(?) p.(=) Unknown - likely benign g.89986458C>T - MC1R(NM_002386.3):c.792C>T (p.I264=), MC1R(NM_002386.4):c.792C>T (p.I264=) - MC1R_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3351G>A r.(?) p.(=) Unknown - likely benign g.89986459G>A g.89920051G>A MC1R(NM_002386.3):c.793G>A (p.V265I) - MC1R_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3329C>T r.(?) p.(=) Unknown - VUS g.89986481C>T g.89920073C>T MC1R(NM_002386.3):c.815C>T (p.(Thr272Met)) - MC1R_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3196C>T r.(?) p.(=) Unknown - likely benign g.89986614C>T g.89920206C>T MC1R(NM_002386.3):c.948C>T (p.S316=), MC1R(NM_002386.4):c.948C>T (p.S316=) - MC1R_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-3196C>T r.(?) p.(=) Unknown - likely benign g.89986614C>T - MC1R(NM_002386.3):c.948C>T (p.S316=), MC1R(NM_002386.4):c.948C>T (p.S316=) - MC1R_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-3193G>T r.(?) p.(=) Unknown - VUS g.89986617G>T g.89920209G>T MC1R(NM_002386.3):c.951G>T (p.W317C) - MC1R_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.58-22C>T r.(=) p.(=) Unknown - benign g.89998957C>T g.89932549C>T TUBB3(NM_006086.4):c.58-22C>T - TUBB3_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.58-21C>A r.(=) p.(=) Unknown - likely benign g.89998958C>A g.89932550C>A TUBB3(NM_001197181.2):c.-159-21C>A - TUBB3_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.58-21C>G r.(=) p.(=) Unknown - benign g.89998958C>G g.89932550C>G TUBB3(NM_001197181.2):c.-159-21C>G - TUBB3_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.58-21C>T r.(=) p.(=) Unknown - likely benign g.89998958C>T g.89932550C>T TUBB3(NM_001197181.2):c.-159-21C>T - TUBB3_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.73A>G r.(?) p.(Ser25Gly) Unknown - likely pathogenic g.89998994A>G g.89932586A>G TUBB3(NM_006086.4):c.73A>G (p.S25G) - TUBB3_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.74G>A r.(?) p.(Ser25Asn) Unknown - likely pathogenic g.89998995G>A - - - TUBB3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.90C>T r.(?) p.(Ile30=) Unknown - likely benign g.89999011C>T - TUBB3(NM_006086.4):c.90C>T (p.I30=) - TUBB3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.104A>C r.(?) p.(Asn35Thr) Unknown - VUS g.89999025A>C - TUBB3(NM_006086.3):c.104A>C (p.(Asn35Thr)) - TUBB3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.145G>A r.(?) p.(Val49Ile) Unknown - VUS g.89999066G>A g.89932658G>A TUBB3(NM_006086.4):c.145G>A (p.V49I) - TUBB3_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.167-21C>G r.(=) p.(=) Unknown - benign g.89999855C>G g.89933447C>G TUBB3(NM_001197181.2):c.-50-21C>G, TUBB3(NM_006086.4):c.167-21C>G - TUBB3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.167-21C>G r.(=) p.(=) Unknown - benign g.89999855C>G g.89933447C>G TUBB3(NM_001197181.2):c.-50-21C>G, TUBB3(NM_006086.4):c.167-21C>G - TUBB3_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.211G>A r.(?) p.(Gly71Arg) Unknown - VUS g.89999920G>A g.89933512G>A TUBB3(NM_006086.4):c.211G>A (p.G71R) - TUBB3_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.229C>T r.(?) p.(Arg77Cys) Unknown - VUS g.89999938C>T - - - TUBB3_000044 - - - - Unknown - - - - - DNA SEQ - - CCDD S2:II-1 - - - - - - - - - - 1 Mervyn Thomas
-/. - c.277+8C>T r.(=) p.(=) Unknown - benign g.89999994C>T g.89933586C>T TUBB3(NM_001197181.2):c.61+8C>T, TUBB3(NM_006086.4):c.277+8C>T - TUBB3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.277+8C>T r.(=) p.(=) Unknown - benign g.89999994C>T g.89933586C>T TUBB3(NM_001197181.2):c.61+8C>T, TUBB3(NM_006086.4):c.277+8C>T - TUBB3_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277+167A>G r.(=) p.(=) Unknown - likely benign g.90000153A>G g.89933745A>G - - TUBB3_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277+361T>G r.(=) p.(=) Unknown - likely benign g.90000347T>G - TUBB3(NM_006086.4):c.277+361T>G - TUBB3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.278-7T>G r.(=) p.(=) Unknown - likely benign g.90001130T>G g.89934722T>G TUBB3(NM_001197181.1):c.62-7T>G (p.(=)) - TUBB3_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.292G>A r.(?) p.(Gly98Ser) Unknown - likely pathogenic (dominant) g.90001151G>A g.89934743G>A - - TUBB3_000053 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED2641.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
?/. - c.309G>T r.(?) p.(Lys103Asn) Unknown - VUS g.90001168G>T g.89934760G>T TUBB3(NM_001197181.2):c.93G>T (p.K31N) - TUBB3_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.327G>A r.(?) p.(Gly109=) Unknown - likely benign g.90001186G>A g.89934778G>A TUBB3(NM_006086.4):c.327G>A (p.G109=) - TUBB3_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.330G>A r.(?) p.(Ala110=) Unknown - likely benign g.90001189G>A g.89934781G>A TUBB3(NM_006086.4):c.330G>A (p.A110=) - TUBB3_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.357G>A r.(?) p.(Val119=) Unknown - likely benign g.90001216G>A g.89934808G>A TUBB3(NM_006086.4):c.357G>A (p.V119=) - TUBB3_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.413C>T r.(?) p.(Ser138Leu) Unknown - likely pathogenic g.90001272C>T - TUBB3(NM_006086.4):c.413C>T (p.(Ser138Leu)) - TUBB3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.414G>A r.(?) p.(Ser138=) Unknown - likely benign g.90001273G>A g.89934865G>A TUBB3(NM_001197181.2):c.198G>A (p.S66=) - TUBB3_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.435C>T r.(?) p.(Ser145=) Unknown - likely benign g.90001294C>T g.89934886C>T TUBB3(NM_001197181.2):c.219C>T (p.S73=) - TUBB3_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.447G>A r.(?) p.(Thr149=) Unknown - likely benign g.90001306G>A - TUBB3(NM_001197181.2):c.231G>A (p.T77=) - TUBB3_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.533C>T r.(?) p.(Thr178Met) Unknown - likely pathogenic (dominant) g.90001392C>T g.89934984C>T - - TUBB3_000061 - PubMed: Boissel 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? CONGÉ-052 PubMed: Boissel 2017 analysis 101 stillborn fetuses with severe prenatal anoalies - - Canada - 0d - - - 1 Johan den Dunnen
?/. - c.641C>A r.(?) p.(Thr214Asn) Unknown - VUS g.90001500C>A g.89935092C>A TUBB3(NM_006086.4):c.641C>A (p.T214N) - TUBB3_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.666C>T r.(?) p.(Tyr222=) Unknown - benign g.90001525C>T g.89935117C>T TUBB3(NM_001197181.2):c.450C>T (p.Y150=), TUBB3(NM_006086.4):c.666C>T (p.Y222=) - TUBB3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.666C>T r.(?) p.(Tyr222=) Unknown - benign g.90001525C>T g.89935117C>T TUBB3(NM_001197181.2):c.450C>T (p.Y150=), TUBB3(NM_006086.4):c.666C>T (p.Y222=) - TUBB3_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.672C>T r.(?) p.(Asp224=) Unknown - likely benign g.90001531C>T g.89935123C>T TUBB3(NM_001197181.1):c.456C>T (p.D152=) - TUBB3_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.689C>T r.(?) p.(Ser230Leu) Unknown - pathogenic g.90001548C>T - - - TUBB3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.702C>T r.(?) p.(Ser234=) Unknown - benign g.90001561C>T g.89935153C>T TUBB3(NM_001197181.2):c.486C>T (p.S162=), TUBB3(NM_006086.4):c.702C>T (p.S234=) - TUBB3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.702C>T r.(?) p.(Ser234=) Unknown - likely benign g.90001561C>T g.89935153C>T TUBB3(NM_001197181.2):c.486C>T (p.S162=), TUBB3(NM_006086.4):c.702C>T (p.S234=) - TUBB3_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.712A>G r.(?) p.(Thr238Ala) Unknown - likely pathogenic g.90001571A>G g.89935163A>G - - TUBB3_000001 - - - - De novo yes - - - - DNA SEQ - - CDCBM1 - - - F ? - - - - - - 1 Enza Maria Valente
?/. - c.728C>T r.(?) p.(Pro243Leu) Unknown - VUS g.90001587C>T g.89935179C>T TUBB3(NM_006086.4):c.728C>T (p.P243L) - TUBB3_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.741C>T r.(?) p.(Asn247=) Unknown - likely benign g.90001600C>T g.89935192C>T TUBB3(NM_006086.4):c.741C>T (p.N247=) - TUBB3_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.752G>A r.(?) p.(Arg251His) Unknown - VUS g.90001611G>A g.89935203G>A TUBB3(NM_001197181.1):c.536G>A (p.(Arg179His)) - TUBB3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.752G>A r.(?) p.(Arg251His) Unknown - VUS g.90001611G>A - TUBB3(NM_001197181.1):c.536G>A (p.(Arg179His)) - TUBB3_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.763G>A r.(?) p.(Val255Ile) Unknown - likely pathogenic g.90001622G>A - TUBB3(NM_001197181.2):c.547G>A (p.V183I) - TUBB3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.763G>A r.(?) p.(Val255Ile) Unknown - likely pathogenic g.90001622G>A - TUBB3(NM_001197181.2):c.547G>A (p.V183I) - TUBB3_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.784C>T r.(?) p.(Arg262Cys) Unknown - pathogenic g.90001643C>T - - - TUBB3_000048 - - - rs267607162 CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.784C>T r.(?) p.(Arg262Cys) Unknown - pathogenic g.90001643C>T - TUBB3(NM_006086.4):c.784C>T (p.R262C) - TUBB3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.785G>A r.(?) p.(Arg262His) Unknown - likely pathogenic (dominant) g.90001644G>A g.89935236G>A - - TUBB3_000054 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED2120.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.785G>A r.(?) p.(Arg262His) Unknown - likely pathogenic g.90001644G>A - TUBB3(NM_006086.4):c.785G>A (p.R262H) - TUBB3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.804C>T r.(?) p.(=) Unknown - likely benign g.90001663C>T - TUBB3(NM_001197181.2):c.588C>T (p.P196=) - TUBB3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.861C>T r.(?) p.(Pro287=) Unknown - likely benign g.90001720C>T - TUBB3(NM_001197181.2):c.645C>T (p.P215=) - TUBB3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 4 c.862G>A r.(?) p.(Glu288Lys) Unknown - likely pathogenic g.90001721G>A g.89935313G>A - - TUBB3_000002 - - - - De novo yes - - - - DNA SEQ - - CDCBM1 - - - F ? - - - - - - 1 Enza Maria Valente
+?/. 4 c.862G>A r.(?) p.(Glu288Lys) Unknown - likely pathogenic g.90001721G>A g.89935313G>A - - TUBB3_000002 - - - - De novo yes - - - - DNA SEQ - - CDCBM1 - - - M ? - - - - - - 1 Enza Maria Valente
+/. - c.862G>A r.(?) p.(Glu288Lys) Unknown - pathogenic g.90001721G>A g.89935313G>A TUBB3(NM_001197181.2):c.646G>A (p.E216K) - TUBB3_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.862G>A r.(?) p.(Glu288Lys) Unknown - likely pathogenic (dominant) g.90001721G>A g.89935313G>A NM_001197181.1:c.646G>A - TUBB3_000002 - PubMed: Nambot 2018 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? PED1909.1 PubMed: Nambot 2018 - - - France - - - - - 1 Johan den Dunnen
+?/. - c.862G>A r.(?) p.(Glu288Lys) Unknown - likely pathogenic (dominant) g.90001721G>A g.89935313G>A - - TUBB3_000002 - PubMed: Boissel 2017 - - De novo - - - - - DNA SEQ, SEQ-NG - WES ? 051-080-RLH PubMed: Boissel 2017 analysis 101 stillborn fetuses with severe prenatal anoalies - - Canada - 0d - - - 1 Johan den Dunnen
Legend   How to query   « First ‹ Prev     1 2     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.