Full data view for gene C19orf80

Information The variants shown are described using the NM_018687.6 transcript reference sequence.

213 entries on 3 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3     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.-45136C>T r.(?) p.(=) Unknown - likely benign g.11305178C>T g.11194502C>T KANK2(NM_001136191.2):c.10G>A (p.V4I), KANK2(NM_001136191.3):c.10G>A (p.V4I) - C19orf80_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-45136C>T r.(?) p.(=) Unknown - likely benign g.11305178C>T - KANK2(NM_001136191.2):c.10G>A (p.V4I), KANK2(NM_001136191.3):c.10G>A (p.V4I) - C19orf80_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-45123_-45121del r.(?) p.(=) Unknown - pathogenic g.11305191_11305193del - KANK2(NM_001136191.2):c.-2_1delAGA - C19orf80_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-43820C>A r.(?) p.(=) Unknown - likely benign g.11306494C>A - KANK2(NM_001136191.3):c.-276G>T - C19orf80_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-40204G>A r.(?) p.(=) Unknown - likely benign g.11310110G>A - DOCK6(NM_020812.3):c.*63C>T (p.?) - C19orf80_000093 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-39291C>T r.(?) p.(=) Unknown - VUS g.11311023C>T - DOCK6(NM_020812.3):c.6062G>A (p.(Arg2021His)) - C19orf80_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-39205A>T r.(?) p.(=) Unknown - benign g.11311109A>T g.11200433A>T DOCK6(NM_020812.4):c.5976T>A (p.I1992=) - DOCK6_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-38928G>A r.(?) p.(=) Unknown - likely benign g.11311386G>A g.11200710G>A DOCK6(NM_020812.3):c.5939+6C>T (p.(=)) - DOCK6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-38928G>A r.(?) p.(=) Unknown - likely benign g.11311386G>A - DOCK6(NM_020812.3):c.5939+6C>T (p.(=)) - DOCK6_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-38924A>G r.(?) p.(=) Unknown - pathogenic g.11311390A>G g.11200714A>G DOCK6(NM_001367830.1):c.6044+2T>C, DOCK6(NM_020812.4):c.5939+2T>C - DOCK6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.-38924A>G r.(?) p.(=) Unknown - likely pathogenic g.11311390A>G - DOCK6(NM_001367830.1):c.6044+2T>C, DOCK6(NM_020812.4):c.5939+2T>C - DOCK6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-38924A>G r.(?) p.(=) Unknown - pathogenic g.11311390A>G - DOCK6(NM_001367830.1):c.6044+2T>C, DOCK6(NM_020812.4):c.5939+2T>C - DOCK6_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-38876G>A r.(?) p.(=) Unknown - VUS g.11311438G>A - DOCK6(NM_020812.4):c.5893C>T (p.(Arg1965Trp)) - C19orf80_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-38800G>C r.(?) p.(=) Unknown - likely benign g.11311514G>C g.11200838G>C DOCK6(NM_020812.4):c.5833-16C>G - DOCK6_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-38734C>A r.(?) p.(=) Unknown - VUS g.11311580C>A g.11200904C>A DOCK6(NM_020812.3):c.5832+5G>T (p.?) - DOCK6_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-38733G>A r.(?) p.(=) Unknown - likely benign g.11311581G>A g.11200905G>A DOCK6(NM_020812.3):c.5832+4C>T - C19orf80_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-38726G>T r.(?) p.(=) Unknown - likely benign g.11311588G>T - DOCK6(NM_020812.3):c.5829C>A (p.(Asn1943Lys)) - C19orf80_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-38658C>T r.(?) p.(=) Unknown - likely benign g.11311656C>T - DOCK6(NM_020812.3):c.5761G>A (p.(Glu1921Lys)) - C19orf80_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-38597C>T r.(?) p.(=) Unknown - benign g.11311717C>T g.11201041C>T DOCK6(NM_020812.3):c.5700G>A (p.T1900=) - C19orf80_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-38587G>A r.(?) p.(=) Unknown - VUS g.11311727G>A - DOCK6(NM_020812.3):c.5690C>T (p.T1897M) - C19orf80_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-37758C>G r.(?) p.(=) Unknown - likely benign g.11312556C>G - DOCK6(NM_020812.4):c.5688+9G>C - DOCK6_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-37682G>C r.(?) p.(=) Unknown - VUS g.11312632G>C - DOCK6(NM_020812.3):c.5621C>G (p.(Thr1874Arg)) - C19orf80_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-37676C>T r.(?) p.(=) Unknown - VUS g.11312638C>T - DOCK6(NM_020812.4):c.5615G>A (p.(Arg1872His)) - C19orf80_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-37636C>T r.(?) p.(=) Unknown - VUS g.11312678C>T g.11202002C>T DOCK6(NM_020812.3):c.5575G>A (p.(Asp1859Asn)) - DOCK6_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-37601A>G r.(?) p.(=) Unknown - VUS g.11312713A>G - DOCK6(NM_020812.3):c.5540T>C (p.(Leu1847Pro)) - C19orf80_000094 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-37581G>T r.(?) p.(=) Unknown - pathogenic g.11312733G>T - DOCK6(NM_020812.4):c.5520C>A (p.Y1840*) - C19orf80_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-37201T>C r.(?) p.(=) Unknown - VUS g.11313113T>C g.11202437T>C - - DOCK6_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-37058G>A r.(?) p.(=) Unknown - benign g.11313256G>A g.11202580G>A DOCK6(NM_020812.4):c.5361+4C>T - DOCK6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-37058G>A r.(?) p.(=) Unknown - benign g.11313256G>A g.11202580G>A DOCK6(NM_020812.4):c.5361+4C>T - DOCK6_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-37025T>G r.(?) p.(=) Unknown - VUS g.11313289T>G - DOCK6(NM_020812.4):c.5332A>C (p.(Lys1778Gln)) - C19orf80_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-37003C>G r.(?) p.(=) Unknown - likely benign g.11313311C>G g.11202635C>G DOCK6(NM_020812.3):c.5310G>C (p.V1770=) - DOCK6_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-36930C>T r.(?) p.(=) Unknown - VUS g.11313384C>T - DOCK6(NM_020812.4):c.5237G>A (p.(Arg1746His)) - C19orf80_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-35566C>T r.(?) p.(=) Unknown - benign g.11314748C>T g.11204072C>T DOCK6(NM_020812.4):c.5235+9G>A - DOCK6_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-35564_-35558del r.(?) p.(=) Unknown - VUS g.11314750_11314756del - DOCK6(NM_020812.3):c.5235+1_5235+7del (p.?) - C19orf80_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-35551G>T r.(?) p.(=) Unknown - likely benign g.11314763G>T g.11204087G>T DOCK6(NM_001367830.1):c.5334C>A (p.G1778=), DOCK6(NM_020812.4):c.5229C>A (p.G1743=) - DOCK6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-35551G>T r.(?) p.(=) Unknown - likely benign g.11314763G>T - DOCK6(NM_001367830.1):c.5334C>A (p.G1778=), DOCK6(NM_020812.4):c.5229C>A (p.G1743=) - DOCK6_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-35392G>A r.(?) p.(=) Unknown - likely benign g.11314922G>A - DOCK6(NM_020812.3):c.5174C>T (p.(Ala1725Val)) - C19orf80_000095 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-30960G>C r.(?) p.(=) Unknown - likely benign g.11319354G>C g.11208678G>C DOCK6(NM_020812.3):c.5088+8C>G - C19orf80_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-30823G>A r.(?) p.(=) Unknown - benign g.11319491G>A g.11208815G>A DOCK6(NM_020812.4):c.4959C>T (p.N1653=) - DOCK6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-30823G>A r.(?) p.(=) Unknown - benign g.11319491G>A g.11208815G>A DOCK6(NM_020812.4):c.4959C>T (p.N1653=) - DOCK6_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-30716C>T r.(?) p.(=) Unknown - benign g.11319598C>T g.11208922C>T DOCK6(NM_020812.3):c.4933G>A (p.V1645I, p.(Val1645Ile)) - C19orf80_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-30716C>T r.(?) p.(=) Unknown - likely benign g.11319598C>T g.11208922C>T DOCK6(NM_020812.3):c.4933G>A (p.V1645I, p.(Val1645Ile)) - C19orf80_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-30678G>A r.(?) p.(=) Unknown - benign g.11319636G>A g.11208960G>A DOCK6(NM_020812.3):c.4895C>T (p.(Ala1632Val)), DOCK6(NM_020812.4):c.4895C>T (p.A1632V) - DOCK6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-30678G>A r.(?) p.(=) Unknown - benign g.11319636G>A g.11208960G>A DOCK6(NM_020812.3):c.4895C>T (p.(Ala1632Val)), DOCK6(NM_020812.4):c.4895C>T (p.A1632V) - DOCK6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-30678G>A r.(?) p.(=) Unknown - likely benign g.11319636G>A g.11208960G>A DOCK6(NM_020812.3):c.4895C>T (p.(Ala1632Val)), DOCK6(NM_020812.4):c.4895C>T (p.A1632V) - DOCK6_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-30652C>T r.(?) p.(=) Unknown - likely benign g.11319662C>T g.11208986C>T DOCK6(NM_020812.3):c.4869G>A (p.A1623=) - C19orf80_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-30645A>G r.(?) p.(=) Unknown - likely benign g.11319669A>G g.11208993A>G DOCK6(NM_020812.3):c.4862T>C (p.V1621A, p.(Val1621Ala)) - DOCK6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-30645A>G r.(?) p.(=) Unknown - likely benign g.11319669A>G g.11208993A>G DOCK6(NM_020812.3):c.4862T>C (p.V1621A, p.(Val1621Ala)) - DOCK6_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-30625G>A r.(?) p.(=) Unknown - likely benign g.11319689G>A - DOCK6(NM_020812.3):c.4842C>T (p.A1614=) - C19orf80_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-30605C>T r.(?) p.(=) Unknown - VUS g.11319709C>T g.11209033C>T DOCK6(NM_020812.3):c.4822G>A (p.(Ala1608Thr)) - DOCK6_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-30542G>A r.(?) p.(=) Unknown - VUS g.11319772G>A - DOCK6(NM_020812.3):c.4759C>T (p.R1587W) - C19orf80_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-27863C>T r.(?) p.(=) Unknown - pathogenic g.11322451C>T g.11211775C>T DOCK6(NM_020812.4):c.4751+1G>A - DOCK6_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-27863C>T r.(?) p.(=) Unknown - pathogenic g.11322451C>T - DOCK6(NM_020812.4):c.4751+1G>A - DOCK6_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27843G>A r.(?) p.(=) Unknown - likely benign g.11322471G>A g.11211795G>A DOCK6(NM_001367830.1):c.4837C>T (p.L1613F), DOCK6(NM_020812.3):c.4732C>T (p.(Leu1578Phe)) - DOCK6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27843G>A r.(?) p.(=) Unknown - VUS g.11322471G>A - DOCK6(NM_001367830.1):c.4837C>T (p.L1613F), DOCK6(NM_020812.3):c.4732C>T (p.(Leu1578Phe)) - DOCK6_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27783G>C r.(?) p.(=) Unknown - VUS g.11322531G>C - DOCK6(NM_020812.4):c.4672C>G (p.(Leu1558Val)) - C19orf80_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27588G>T r.(?) p.(=) Unknown - likely benign g.11322726G>T g.11212050G>T DOCK6(NM_020812.3):c.4593C>A (p.T1531=) - C19orf80_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27545G>A r.(?) p.(=) Unknown - VUS g.11322769G>A g.11212093G>A DOCK6(NM_001367830.1):c.4655C>T (p.T1552M), DOCK6(NM_020812.3):c.4550C>T (p.(Thr1517Met)) - DOCK6_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-27545G>A r.(?) p.(=) Unknown - VUS g.11322769G>A - DOCK6(NM_001367830.1):c.4655C>T (p.T1552M), DOCK6(NM_020812.3):c.4550C>T (p.(Thr1517Met)) - DOCK6_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-27543C>T r.(?) p.(=) Unknown - benign g.11322771C>T g.11212095C>T DOCK6(NM_020812.4):c.4548G>A (p.T1516=) - C19orf80_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27542G>A r.(?) p.(=) Unknown - likely benign g.11322772G>A g.11212096G>A DOCK6(NM_020812.3):c.4547C>T (p.(Thr1516Met)), DOCK6(NM_020812.4):c.4547C>T (p.T1516M) - DOCK6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-27542G>A r.(?) p.(=) Unknown - likely benign g.11322772G>A - DOCK6(NM_020812.3):c.4547C>T (p.(Thr1516Met)), DOCK6(NM_020812.4):c.4547C>T (p.T1516M) - DOCK6_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-26440C>T r.(?) p.(=) Unknown - VUS g.11323874C>T g.11213198C>T DOCK6(NM_020812.3):c.4469G>A (p.(Arg1490Gln)) - C19orf80_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.-26373G>A r.(?) p.(=) Unknown - pathogenic g.11323941G>A - DOCK6(NM_020812.4):c.4402C>T (p.R1468*) - C19orf80_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-26315C>T r.(?) p.(=) Unknown - benign g.11323999C>T g.11213323C>T DOCK6(NM_020812.3):c.4344G>A (p.P1448=), DOCK6(NM_020812.4):c.4344G>A (p.P1448=) - DOCK6_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-26315C>T r.(?) p.(=) Unknown - likely benign g.11323999C>T g.11213323C>T DOCK6(NM_020812.3):c.4344G>A (p.P1448=), DOCK6(NM_020812.4):c.4344G>A (p.P1448=) - DOCK6_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-26314G>A r.(?) p.(=) Unknown - VUS g.11324000G>A g.11213324G>A DOCK6(NM_001367830.1):c.4448C>T (p.P1483L), DOCK6(NM_020812.4):c.4343C>T (p.(Pro1448Leu), p.P1448L) - C19orf80_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-26314G>A r.(?) p.(=) Unknown - VUS g.11324000G>A - DOCK6(NM_001367830.1):c.4448C>T (p.P1483L), DOCK6(NM_020812.4):c.4343C>T (p.(Pro1448Leu), p.P1448L) - C19orf80_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-26314G>A r.(?) p.(=) Unknown - VUS g.11324000G>A - DOCK6(NM_001367830.1):c.4448C>T (p.P1483L), DOCK6(NM_020812.4):c.4343C>T (p.(Pro1448Leu), p.P1448L) - C19orf80_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-25349C>T r.(?) p.(=) Unknown - benign g.11324965C>T g.11214289C>T DOCK6(NM_020812.4):c.4324G>A (p.A1442T) - C19orf80_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-25283C>G r.(?) p.(=) Unknown - likely benign g.11325031C>G g.11214355C>G DOCK6(NM_020812.3):c.4258G>C (p.(Val1420Leu)) - C19orf80_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-25278T>C r.(?) p.(=) Unknown - likely benign g.11325036T>C g.11214360T>C DOCK6(NM_020812.3):c.4253A>G (p.K1418R, p.(Lys1418Arg)) - DOCK6_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-25278T>C r.(?) p.(=) Unknown - benign g.11325036T>C g.11214360T>C DOCK6(NM_020812.3):c.4253A>G (p.K1418R, p.(Lys1418Arg)) - DOCK6_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-25241A>C r.(?) p.(=) Unknown - VUS g.11325073A>C g.11214397A>C DOCK6(NM_020812.3):c.4216T>G (p.S1406A, p.(Ser1406Ala)) - C19orf80_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-25241A>C r.(?) p.(=) Unknown - likely benign g.11325073A>C g.11214397A>C DOCK6(NM_020812.3):c.4216T>G (p.S1406A, p.(Ser1406Ala)) - C19orf80_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-25230G>A r.(?) p.(=) Unknown - benign g.11325084G>A g.11214408G>A DOCK6(NM_020812.3):c.4205C>T (p.T1402M, p.(Thr1402Met)) - C19orf80_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-25230G>A r.(?) p.(=) Unknown - likely benign g.11325084G>A g.11214408G>A DOCK6(NM_020812.3):c.4205C>T (p.T1402M, p.(Thr1402Met)) - C19orf80_000016 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-25085C>T r.(?) p.(=) Unknown - likely benign g.11325229C>T g.11214553C>T DOCK6(NM_020812.3):c.4203G>A (p.(Gln1401=)) - C19orf80_000017 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-25083_-25078del r.(?) p.(=) Unknown - VUS g.11325231_11325236del - DOCK6(NM_020812.4):c.4196_4201del (p.(Ile1399_Gln1401delinsLys)) - C19orf80_000107 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-25079G>A r.(?) p.(=) Unknown - likely benign g.11325235G>A g.11214559G>A DOCK6(NM_020812.3):c.4197C>T (p.I1399=) - C19orf80_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-25041C>T r.(?) p.(=) Unknown - VUS g.11325273C>T - DOCK6(NM_020812.4):c.4159G>A (p.(Glu1387Lys)) - C19orf80_000088 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-24199G>A r.(?) p.(=) Unknown - VUS g.11326115G>A - DOCK6(NM_020812.3):c.4054C>T (p.(Arg1352Cys)) - C19orf80_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-24195A>G r.(?) p.(=) Unknown - benign g.11326119A>G g.11215443A>G DOCK6(NM_020812.4):c.4050T>C (p.N1350=) - DOCK6_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-24195A>G r.(?) p.(=) Unknown - benign g.11326119A>G g.11215443A>G DOCK6(NM_020812.4):c.4050T>C (p.N1350=) - DOCK6_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-24189C>T r.(?) p.(=) Unknown - benign g.11326125C>T g.11215449C>T DOCK6(NM_020812.4):c.4044G>A (p.P1348=) - DOCK6_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-24189C>T r.(?) p.(=) Unknown - benign g.11326125C>T g.11215449C>T DOCK6(NM_020812.4):c.4044G>A (p.P1348=) - DOCK6_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-23729G>A r.(?) p.(=) Unknown - likely benign g.11326585G>A g.11215909G>A DOCK6(NM_020812.3):c.3913C>T (p.(Arg1305Cys)), DOCK6(NM_020812.4):c.3913C>T (p.R1305C) - DOCK6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-23729G>A r.(?) p.(=) Unknown - likely benign g.11326585G>A g.11215909G>A DOCK6(NM_020812.3):c.3913C>T (p.(Arg1305Cys)), DOCK6(NM_020812.4):c.3913C>T (p.R1305C) - DOCK6_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-22743C>T r.(?) p.(=) Unknown - benign g.11327571C>T g.11216895C>T DOCK6(NM_020812.4):c.3894+19G>A - C19orf80_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-22743C>T r.(?) p.(=) Unknown - benign g.11327571C>T g.11216895C>T DOCK6(NM_020812.4):c.3894+19G>A - C19orf80_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-22733C>T r.(?) p.(=) Unknown - likely benign g.11327581C>T - DOCK6(NM_020812.4):c.3894+9G>A - C19orf80_000089 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-22706T>C r.(?) p.(=) Unknown - benign g.11327608T>C g.11216932T>C DOCK6(NM_020812.4):c.3876A>G (p.L1292=) - C19orf80_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-22706T>C r.(?) p.(=) Unknown - benign g.11327608T>C g.11216932T>C DOCK6(NM_020812.4):c.3876A>G (p.L1292=) - C19orf80_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-22688A>G r.(?) p.(=) Unknown - benign g.11327626A>G g.11216950A>G DOCK6(NM_020812.4):c.3858T>C (p.D1286=) - DOCK6_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.-22688A>G r.(?) p.(=) Unknown - benign g.11327626A>G g.11216950A>G DOCK6(NM_020812.4):c.3858T>C (p.D1286=) - DOCK6_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-22678C>T r.(?) p.(=) Unknown - VUS g.11327636C>T - DOCK6(NM_020812.4):c.3848G>A (p.(Arg1283His)) - C19orf80_000108 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-22641G>A r.(?) p.(=) Unknown - VUS g.11327673G>A - DOCK6(NM_001367830.1):c.3916C>T (p.R1306C) - C19orf80_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-22628C>T r.(?) p.(=) Unknown - likely benign g.11327686C>T - DOCK6(NM_020812.3):c.3798G>A (p.P1266=) - C19orf80_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.-22582C>T r.(?) p.(=) Unknown - VUS g.11327732C>T g.11217056C>T DOCK6(NM_020812.3):c.3752G>A (p.R1251Q) - C19orf80_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.-22554C>T r.(?) p.(=) Unknown - likely benign g.11327760C>T g.11217084C>T DOCK6(NM_020812.3):c.3724G>A (p.(Gly1242Ser)) - DOCK6_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
Legend   How to query   « First ‹ Prev     1 2 3     Next › Last »


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