Full data view for gene PAK3

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

84 entries on 1 page. Showing entries 1 - 84.
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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.-91238G>T r.(=) p.(=) Maternal (inferred) - VUS g.110248758G>T g.111005530G>T - - PAK3_000030 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-91238G>T r.(?) p.(=) Maternal (inferred) - VUS g.110248758G>T g.111005530G>T - - PAK3_000030 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-91220C>T r.(?) p.(=) Maternal (inferred) - VUS g.110248776C>T g.111005548C>T - - PAK3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-91220C>T r.(?) p.(=) Maternal (inferred) - VUS g.110248776C>T g.111005548C>T - - PAK3_000001 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-90813A>G r.(?) p.(=) Maternal (inferred) - VUS g.110249183A>G g.111005955A>G - - PAK3_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-90813A>G r.(?) p.(=) Maternal (inferred) - VUS g.110249183A>G g.111005955A>G - - PAK3_000002 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
+/. - c.-83094_-82716del r.(?) p.(=) Maternal (confirmed) - pathogenic g.110256903_110257281del g.111013675_111014053del - - PAK3_000043 decreased gene dosage PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
?/. - c.-352-33del r.(=) p.(=) Unknown - VUS g.110340585del g.111097357del - - PAK3_000035 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-352-33del r.(=) p.(=) Unknown - VUS g.110340585del g.111097357del - - PAK3_000035 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-175-373T>G r.(=) p.(=) Maternal (inferred) - VUS g.110346014T>G g.111102786T>G - - PAK3_000004 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-175-147T>A r.(=) p.(=) Unknown - VUS g.110346240T>A g.111103012T>A - - PAK3_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-175-147T>A r.(=) p.(=) Maternal (inferred) - VUS g.110346240T>A g.111103012T>A - - PAK3_000005 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-175-132_-175-131del r.(=) p.(=) Unknown - VUS g.110346255_110346256del g.111103027_111103028del - - PAK3_000006 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.-175-82_-175-81del r.(=) p.(=) Unknown - VUS g.110346305_110346306del g.111103077_111103078del - - PAK3_000007 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-/. - c.-17A>T r.(?) p.(=) Unknown - benign g.110366315A>T g.111123087A>T PAK3(NM_002578.5):c.-17A>T - PAK3_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.9C>T r.(?) p.(Asp3=) Unknown - likely benign g.110366340C>T - PAK3(NM_001128168.2):c.9C>T (p.D3=) - PAK3_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.175+25G>A r.(=) p.(=) Unknown - likely benign g.110366531G>A - PAK3(NR_136746.2):n.972G>A - PAK3_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.175+312G>A r.(=) p.(=) Maternal (inferred) - VUS g.110366818G>A g.111123590G>A - - PAK3_000012 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.175+1606dup r.(=) p.(=) Maternal (inferred) - VUS g.110368112dup g.111124884dup - - PAK3_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.175+1606dup r.(=) p.(=) Unknown - VUS g.110368112dup g.111124884dup - - PAK3_000039 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.175+1606dup r.(=) p.(=) Maternal (inferred) - VUS g.110368112dup g.111124884dup - - PAK3_000013 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.175+1606dup r.(=) p.(=) Maternal (inferred) - VUS g.110368112dup g.111124884dup - - PAK3_000039 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.175+2151T>A r.(=) p.(=) Maternal (inferred) - VUS g.110368657T>A g.111125429T>A - - PAK3_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.175+2151T>A r.(=) p.(=) Maternal (inferred) - VUS g.110368657T>A g.111125429T>A - - PAK3_000015 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.175+2323A>G r.(=) p.(=) Maternal (inferred) - VUS g.110368829A>G g.111125601A>G - - PAK3_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.175+2323A>G r.(=) p.(=) Maternal (inferred) - VUS g.110368829A>G g.111125601A>G - - PAK3_000018 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.175+4946T>C r.(=) p.(=) Maternal (inferred) - VUS g.110371452T>C g.111128224T>C - - PAK3_000021 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.175+4946T>C r.(=) p.(=) Maternal (inferred) - VUS g.110371452T>C g.111128224T>C - - PAK3_000021 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.276+2659T>C r.(=) p.(=) Unknown - likely benign g.110388083T>C g.111144855T>C PAK3(NM_001128168.1):c.277-5T>C (p.?), PAK3(NM_002578.5):c.276+2659T>C - PAK3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.276+2659T>C r.(=) p.(=) Unknown - likely benign g.110388083T>C g.111144855T>C PAK3(NM_001128168.1):c.277-5T>C (p.?), PAK3(NM_002578.5):c.276+2659T>C - PAK3_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.276+2699C>T r.(=) p.(=) Unknown - likely benign g.110388123C>T - PAK3(NM_001128168.2):c.312C>T (p.V104=) - PAK3_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.276+2719G>A r.(=) p.(=) Unknown - likely benign g.110388143G>A - PAK3(NM_001128168.2):c.332G>A (p.G111E) - PAK3_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.276+2733G>T r.(=) p.(=) Unknown - likely benign g.110388157G>T g.111144929G>T PAK3(NM_001128168.2):c.339+7G>T - PAK3_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277-1193G>A r.(=) p.(=) Unknown - likely benign g.110389772G>A g.111146544G>A PAK3(NM_001128168.1):c.363G>A (p.(Met121Ile)), PAK3(NM_001128168.2):c.363G>A (p.M121I), PAK3(NM_001128168.3):c.363G>A (p.M121I) - PAK3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277-1193G>A r.(=) p.(=) Unknown - likely benign g.110389772G>A g.111146544G>A PAK3(NM_001128168.1):c.363G>A (p.(Met121Ile)), PAK3(NM_001128168.2):c.363G>A (p.M121I), PAK3(NM_001128168.3):c.363G>A (p.M121I) - PAK3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277-1193G>A r.(=) p.(=) Unknown - likely benign g.110389772G>A - PAK3(NM_001128168.1):c.363G>A (p.(Met121Ile)), PAK3(NM_001128168.2):c.363G>A (p.M121I), PAK3(NM_001128168.3):c.363G>A (p.M121I) - PAK3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277-1193G>A r.(=) p.(=) Unknown - likely benign g.110389772G>A - PAK3(NM_001128168.1):c.363G>A (p.(Met121Ile)), PAK3(NM_001128168.2):c.363G>A (p.M121I), PAK3(NM_001128168.3):c.363G>A (p.M121I) - PAK3_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.277-18C>A r.(=) p.(=) Unknown - likely benign g.110390947C>A g.111147719C>A PAK3(NM_002578.5):c.277-18C>A - PAK3_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.342_344del r.(?) p.(Lys114del) Maternal (confirmed) ACMG VUS g.110391023_110391025del - - - PAK3_000082 - - - - Germline yes - - - - DNA SEQ-NG - - ? T26597 - - M yes - - - - - - 1 Michael Hildebrand
-?/. - c.469-4C>A r.spl? p.? Unknown - likely benign g.110406139C>A g.111162911C>A PAK3(NM_001128166.1):c.469-4C>A (p.?), PAK3(NM_002578.5):c.469-4C>A - PAK3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.469-4C>A r.spl? p.? Unknown - VUS g.110406139C>A g.111162911C>A PAK3(NM_001128166.1):c.469-4C>A (p.?), PAK3(NM_002578.5):c.469-4C>A - PAK3_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.483A>G r.(?) p.(Ala161=) Unknown - likely benign g.110406157A>G g.111162929A>G PAK3(NM_001128168.2):c.591A>G (p.A197=) - PAK3_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.522_524del r.(?) p.(Glu174del) Unknown - VUS g.110406196_110406198del - PAK3(NM_002578.5):c.522_524delAGA (p.E174del) - PAK3_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.524A>G r.(?) p.(Asp175Gly) Unknown - VUS g.110406198A>G - PAK3(NM_002578.5):c.524A>G (p.D175G) - PAK3_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.531G>A r.(?) p.(Glu177=) Unknown - likely benign g.110406205G>A - PAK3(NM_001128168.2):c.639G>A (p.E213=) - PAK3_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.601-3dup r.spl? p.? Unknown - likely benign g.110406787dup g.111163559dup PAK3(NM_002578.5):c.601-3dupT - PAK3_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.665C>A r.(?) p.(Pro222Gln) Unknown - likely benign g.110406854C>A - PAK3(NM_001128168.2):c.773C>A (p.P258Q) - PAK3_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.668C>T r.(?) p.(Pro223Leu) Unknown - VUS g.110406857C>T - - - PAK3_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.737T>A r.(?) p.(Met246Lys) Unknown - VUS g.110406926T>A g.111163698T>A - - PAK3_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.766+15C>A r.(=) p.(=) Unknown - likely benign g.110406970C>A g.111163742C>A PAK3(NM_002578.5):c.766+15C>A - PAK3_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.849T>C r.(?) p.(Tyr283=) Unknown - likely benign g.110435373T>C g.111192145T>C PAK3(NM_002578.5):c.849T>C (p.Y283=) - PAK3_000068 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.879+2T>C r.spl? p.? Unknown - VUS g.110435405T>C - PAK3(NM_002578.5):c.879+2T>C - PAK3_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.879+13G>A r.(=) p.(=) Unknown - benign g.110435416G>A g.111192188G>A PAK3(NM_002578.5):c.879+13G>A - PAK3_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.976G>C r.(?) p.(Val326Leu) Maternal (confirmed) - pathogenic (recessive) g.110435830G>C g.111192602G>C - - PAK3_000063 - - - - Germline yes not found in gnomAD - - - DNA SEQ-NG-I blood Mendeliom MRX30;MRX47 - - 2-generation family, patient and unaffected heterozygous carrier mother M no Hungary - - - - - 1 Dora Nagy
+?/. - c.998T>A r.(?) p.(Leu333*) Unknown - likely pathogenic g.110437534T>A - - - PAK3_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1093G>A r.(?) p.(Ala365Thr) Unknown - likely pathogenic g.110437629G>A - - - PAK3_000086 - - - - Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1139C>G r.(?) p.(Ser380*) Unknown - pathogenic g.110439098C>G - PAK3(NM_002578.5):c.1139C>G (p.S380*) - PAK3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1139C>G r.(?) p.(Ser380*) Unknown - likely pathogenic g.110439098C>G - PAK3(NM_002578.5):c.1139C>G (p.S380*) - PAK3_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 17 c.1167G>T r.(?) p.(Lys389Asn) Maternal (confirmed) - pathogenic g.110439126G>T g.111195898G>T - - PAK3_000040 - Magini et al., submitted - - Germline yes - - - - DNA SEQ-NG ? - ID - - - M no Italy white - - - - 1 Pamela Magini
+?/. - c.1174A>C r.(?) p.(Asn392His) Unknown - likely pathogenic g.110439133A>C g.111195905A>C PAK3(NM_001128168.3):c.1282A>C (p.N428H) - PAK3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1174A>C r.(?) p.(Asn392His) Unknown - VUS g.110439133A>C g.111195905A>C PAK3(NM_001128168.3):c.1282A>C (p.N428H) - PAK3_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1180C>A r.(?) p.(Leu394Ile) Unknown - VUS g.110439139C>A - - - PAK3_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1231C>T r.(?) p.(Gln411Ter) Unknown - pathogenic g.110439692C>T g.111196464C>T - - PAK3_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1247A>C r.(?) p.(Gln416Pro) Unknown - likely pathogenic g.110439708A>C g.111196480A>C - - PAK3_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 16 c.1255C>T r.(?) p.(Arg419*) Unknown ACMG pathogenic g.110439716C>T g.111196488C>T - - PAK3_000085 - - ClinVar-11568 rs121434611 Germline yes - - - - DNA SEQ-NG-I peripheral blood CES NDD - - - M - - (not applicable) white - - - - 1 Marketa Wayhelova
+/. - c.1340C>T r.(?) p.(Ser447Phe) Unknown - pathogenic g.110439801C>T g.111196573C>T - - PAK3_000042 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
+?/. - c.1379C>A r.(?) p.(Pro460His) Unknown - likely pathogenic g.110439840C>A g.111196612C>A - - PAK3_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1407+214_1407+216del r.(=) p.(=) Unknown - VUS g.110440082_110440084del g.111196854_111196856del - - PAK3_000037 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
-?/. - c.1408-14A>G r.(=) p.(=) Unknown - likely benign g.110459635A>G g.111216407A>G PAK3(NM_002578.5):c.1408-14A>G - PAK3_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1421T>C r.(?) p.(Ile474Thr) Unknown - VUS g.110459662T>C g.111216434T>C PAK3(NM_001128168.2):c.1529T>C (p.I510T) - PAK3_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1454del r.(?) p.(Pro485Leufs*12) Maternal (confirmed) - pathogenic g.110459695del g.111216467del - - PAK3_000041 - PubMed: DDDS 2015, Journal: DDDS 2015 - - Germline - - - - - DNA SEQ, SEQ-NG-I - - ? - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected M - United Kingdom (Great Britain) - - - Decipher - 1 Johan den Dunnen
-?/. - c.1492C>T r.(?) p.(Arg498Cys) Unknown - likely benign g.110459733C>T g.111216505C>T PAK3(NM_001128168.2):c.1600C>T (p.R534C) - PAK3_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1503G>C r.(?) p.(Glu501Asp) Unknown ACMG VUS g.110459744G>C g.111216516G>C - - PAK3_000067 inhertited from the mother - - - Germline - - - - - DNA SEQ-NG-S - - ? - - - M - - - - - - - 1 Andreas Laner
-?/. - c.1518G>A r.(?) p.(Arg506=) Unknown - likely benign g.110459759G>A g.111216531G>A PAK3(NM_001128168.2):c.1626G>A (p.R542=), PAK3(NM_002578.5):c.1518G>A (p.R506=) - PAK3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1518G>A r.(?) p.(Arg506=) Unknown - likely benign g.110459759G>A g.111216531G>A PAK3(NM_001128168.2):c.1626G>A (p.R542=), PAK3(NM_002578.5):c.1518G>A (p.R506=) - PAK3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1518G>A r.(?) p.(Arg506=) Unknown - likely benign g.110459759G>A - PAK3(NM_001128168.2):c.1626G>A (p.R542=), PAK3(NM_002578.5):c.1518G>A (p.R506=) - PAK3_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1579A>G r.(?) p.(Ser527Gly) Unknown - VUS g.110463619A>G g.111220391A>G PAK3(NM_001128168.2):c.1687A>G (p.S563G), PAK3(NM_001128168.3):c.1687A>G (p.S563G), PAK3(NM_002578.5):c.1579A>G (p.S527G) - PAK3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1579A>G r.(?) p.(Ser527Gly) Unknown - VUS g.110463619A>G - PAK3(NM_001128168.2):c.1687A>G (p.S563G), PAK3(NM_001128168.3):c.1687A>G (p.S563G), PAK3(NM_002578.5):c.1579A>G (p.S527G) - PAK3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1579A>G r.(?) p.(Ser527Gly) Unknown - likely benign g.110463619A>G - PAK3(NM_001128168.2):c.1687A>G (p.S563G), PAK3(NM_001128168.3):c.1687A>G (p.S563G), PAK3(NM_002578.5):c.1579A>G (p.S527G) - PAK3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1579A>G r.(?) p.(Ser527Gly) Unknown - likely benign g.110463619A>G - PAK3(NM_001128168.2):c.1687A>G (p.S563G), PAK3(NM_001128168.3):c.1687A>G (p.S563G), PAK3(NM_002578.5):c.1579A>G (p.S527G) - PAK3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1579A>G r.(?) p.(Ser527Gly) Unknown - VUS g.110463619A>G - PAK3(NM_001128168.2):c.1687A>G (p.S563G), PAK3(NM_001128168.3):c.1687A>G (p.S563G), PAK3(NM_002578.5):c.1579A>G (p.S527G) - PAK3_000066 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*497del r.(=) p.(=) Unknown - VUS g.110464172del g.111220944del - - PAK3_000038 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*498del r.(=) p.(=) Unknown - VUS g.110464173del g.111220945del - - PAK3_000033 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
?/. - c.*498_*499del r.spl? p.? Unknown - VUS g.110464173_110464174del g.111220945_111220946del - - PAK3_000034 - - - - Germline - - - - - DNA SEQ-NG-I - - CHTE - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - - - - 1 Yu Sun
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