Full data view for gene ARHGAP31

Information The variants shown are described using the NM_020754.2 transcript reference sequence.

81 entries on 1 page. Showing entries 1 - 81.
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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     

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Population     

Age at death     

VIP     

Data_av     

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Owner     
-?/. - c.19A>G r.(?) p.(Lys7Glu) Unknown - likely benign g.119013770A>G - ARHGAP31(NM_020754.4):c.19A>G (p.(Lys7Glu)) - ARHGAP31_000086 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.100+9C>T r.(=) p.(=) Unknown - likely benign g.119013860C>T - ARHGAP31(NM_020754.4):c.100+9C>T - ARHGAP31_000082 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.118A>G r.(?) p.(Ser40Gly) Unknown - VUS g.119084180A>G - ARHGAP31(NM_020754.4):c.118A>G (p.(Ser40Gly)) - ARHGAP31_000083 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.185C>T r.(?) p.(Ser62Leu) Unknown - VUS g.119084247C>T - ARHGAP31(NM_020754.2):c.185C>T (p.(Ser62Leu)), ARHGAP31(NM_020754.4):c.185C>T (p.S62L) - ARHGAP31_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.185C>T r.(?) p.(Ser62Leu) Unknown - VUS g.119084247C>T - ARHGAP31(NM_020754.2):c.185C>T (p.(Ser62Leu)), ARHGAP31(NM_020754.4):c.185C>T (p.S62L) - ARHGAP31_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.196C>T r.(?) p.(Arg66Trp) Unknown - VUS g.119084258C>T - ARHGAP31(NM_020754.4):c.196C>T (p.(Arg66Trp)) - ARHGAP31_000087 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.203+6C>T r.(=) p.(=) Unknown - likely benign g.119084271C>T g.119365424C>T ARHGAP31(NM_020754.3):c.203+6C>T - ARHGAP31_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.203+9A>C r.(=) p.(=) Unknown - likely benign g.119084274A>C - ARHGAP31(NM_020754.4):c.203+9A>C - ARHGAP31_000084 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.230C>T r.(?) p.(Pro77Leu) Unknown - VUS g.119087245C>T - ARHGAP31(NM_020754.4):c.230C>T (p.P77L) - ARHGAP31_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.349-7T>G r.(=) p.(=) Unknown - likely benign g.119099744T>G g.119380897T>G ARHGAP31(NM_020754.2):c.349-7T>G (p.(=)), ARHGAP31(NM_020754.3):c.349-7T>G, ARHGAP31(NM_020754.4):c.349-7T>G - ARHGAP31_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.349-7T>G r.(=) p.(=) Unknown - likely benign g.119099744T>G - ARHGAP31(NM_020754.2):c.349-7T>G (p.(=)), ARHGAP31(NM_020754.3):c.349-7T>G, ARHGAP31(NM_020754.4):c.349-7T>G - ARHGAP31_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.349-7T>G r.(=) p.(=) Unknown - likely benign g.119099744T>G - ARHGAP31(NM_020754.2):c.349-7T>G (p.(=)), ARHGAP31(NM_020754.3):c.349-7T>G, ARHGAP31(NM_020754.4):c.349-7T>G - ARHGAP31_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.499G>A r.(?) p.(Ala167Thr) Unknown - likely benign g.119101206G>A - ARHGAP31(NM_020754.4):c.499G>A (p.A167T) - ARHGAP31_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.503G>A r.(?) p.(Arg168Gln) Unknown - likely benign g.119101210G>A g.119382363G>A ARHGAP31(NM_020754.4):c.503G>A (p.R168Q) - ARHGAP31_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.539+2T>C r.spl? p.? Unknown - VUS g.119101248T>C - ARHGAP31(NM_020754.4):c.539+2T>C - ARHGAP31_000080 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.540-7A>G r.(=) p.(=) Unknown - likely benign g.119101924A>G g.119383077A>G ARHGAP31(NM_020754.4):c.540-7A>G - ARHGAP31_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.614T>C r.(?) p.(Ile205Thr) Unknown - VUS g.119102005T>C - ARHGAP31(NM_020754.4):c.614T>C (p.I205T) - ARHGAP31_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.662C>T r.(?) p.(Pro221Leu) Unknown - likely benign g.119102053C>T g.119383206C>T ARHGAP31(NM_020754.2):c.662C>T (p.(Pro221Leu)), ARHGAP31(NM_020754.3):c.662C>T (p.P221L), ARHGAP31(NM_020754.4):c.662C>T (p.P221L) - ARHGAP31_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.662C>T r.(?) p.(Pro221Leu) Unknown - VUS g.119102053C>T g.119383206C>T ARHGAP31(NM_020754.2):c.662C>T (p.(Pro221Leu)), ARHGAP31(NM_020754.3):c.662C>T (p.P221L), ARHGAP31(NM_020754.4):c.662C>T (p.P221L) - ARHGAP31_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.662C>T r.(?) p.(Pro221Leu) Unknown - likely benign g.119102053C>T - ARHGAP31(NM_020754.2):c.662C>T (p.(Pro221Leu)), ARHGAP31(NM_020754.3):c.662C>T (p.P221L), ARHGAP31(NM_020754.4):c.662C>T (p.P221L) - ARHGAP31_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.700A>G r.(?) p.(Lys234Glu) Unknown - VUS g.119109649A>G - ARHGAP31(NM_020754.4):c.700A>G (p.K234E) - ARHGAP31_000063 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.820C>T r.(?) p.(Pro274Ser) Unknown - likely benign g.119109769C>T g.119390922C>T ARHGAP31(NM_020754.2):c.820C>T (p.(Pro274Ser)), ARHGAP31(NM_020754.4):c.820C>T (p.P274S) - ARHGAP31_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.820C>T r.(?) p.(Pro274Ser) Unknown - benign g.119109769C>T g.119390922C>T ARHGAP31(NM_020754.2):c.820C>T (p.(Pro274Ser)), ARHGAP31(NM_020754.4):c.820C>T (p.P274S) - ARHGAP31_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.936T>C r.(?) p.(=) Unknown - likely benign g.119112368T>C - ARHGAP31(NM_020754.4):c.936T>C (p.R312=) - ARHGAP31_000069 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.953A>G r.(?) p.(Lys318Arg) Unknown - likely benign g.119112385A>G - ARHGAP31(NM_020754.4):c.953A>G (p.(Lys318Arg)) - ARHGAP31_000085 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1004C>T r.(?) p.(Ser335Leu) Unknown - VUS g.119112436C>T g.119393589C>T ARHGAP31(NM_020754.4):c.1004C>T (p.(Ser335Leu), p.S335L) - ARHGAP31_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1004C>T r.(?) p.(Ser335Leu) Unknown - likely benign g.119112436C>T - ARHGAP31(NM_020754.4):c.1004C>T (p.(Ser335Leu), p.S335L) - ARHGAP31_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1065A>G r.(?) p.(Val355=) Unknown - benign g.119118104A>G g.119399257A>G ARHGAP31(NM_020754.4):c.1065A>G (p.V355=) - ARHGAP31_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1217G>T r.(?) p.(Gly406Val) Unknown - VUS g.119120816G>T g.119401969G>T ARHGAP31(NM_020754.4):c.1217G>T (p.G406V) - ARHGAP31_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1220C>A r.(?) p.(Ala407Asp) Unknown - VUS g.119120819C>A - - - ARHGAP31_000081 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1267G>C r.(?) p.(Ala423Pro) Unknown - likely benign g.119120866G>C g.119402019G>C ARHGAP31(NM_020754.2):c.1267G>C (p.(Ala423Pro)) - ARHGAP31_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1280C>G r.(?) p.(Pro427Arg) Unknown - likely benign g.119120879C>G - ARHGAP31(NM_020754.2):c.1280C>G (p.(Pro427Arg)) - ARHGAP31_000071 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1283C>G r.(?) p.(Pro428Arg) Unknown - VUS g.119120882C>G g.119402035C>G ARHGAP31(NM_020754.4):c.1283C>G (p.P428R) - ARHGAP31_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1320T>A r.(?) p.(Asp440Glu) Unknown - VUS g.119120919T>A - ARHGAP31(NM_020754.4):c.1320T>A (p.D440E) - ARHGAP31_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1402A>G r.(?) p.(Ser468Gly) Unknown - likely benign g.119121001A>G g.119402154A>G ARHGAP31(NM_020754.3):c.1402A>G (p.S468G) - ARHGAP31_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1432C>T r.(?) p.(Arg478Cys) Unknown - likely benign g.119121031C>T - ARHGAP31(NM_020754.2):c.1432C>T (p.(Arg478Cys)) - ARHGAP31_000072 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1519A>G r.(?) p.(Thr507Ala) Unknown - VUS g.119121118A>G - ARHGAP31(NM_020754.4):c.1519A>G (p.T507A) - ARHGAP31_000064 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1537C>T r.(?) p.(Pro513Ser) Unknown - likely benign g.119121136C>T - ARHGAP31(NM_020754.4):c.1537C>T (p.P513S) - ARHGAP31_000065 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1539G>A r.(?) p.(Pro513=) Unknown - likely benign g.119121138G>A g.119402291G>A ARHGAP31(NM_020754.3):c.1539G>A (p.P513=) - ARHGAP31_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1700C>T r.(?) p.(Pro567Leu) Unknown - likely benign g.119128397C>T - ARHGAP31(NM_020754.2):c.1700C>T (p.(Pro567Leu)) - ARHGAP31_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1701G>A r.(?) p.(Pro567=) Unknown - benign g.119128398G>A g.119409551G>A ARHGAP31(NM_020754.4):c.1701G>A (p.P567=) - ARHGAP31_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1801G>T r.(?) p.(Glu601Ter) Unknown - likely pathogenic g.119128498G>T - ARHGAP31(NM_020754.4):c.1801G>T (p.E601*) - ARHGAP31_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1926+5A>G r.spl? p.? Unknown - benign g.119128628A>G g.119409781A>G ARHGAP31(NM_020754.4):c.1926+5A>G - ARHGAP31_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1926+11T>C r.(=) p.(=) Unknown - benign g.119128634T>C g.119409787T>C ARHGAP31(NM_020754.4):c.1926+11T>C - ARHGAP31_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2042C>G r.(?) p.(Pro681Arg) Unknown - VUS g.119132818C>G g.119413971C>G ARHGAP31(NM_020754.4):c.2042C>G (p.P681R) - ARHGAP31_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.2047C>T r.(?) p.(Gln683*) Parent #1 - pathogenic g.119132823C>T g.119413976C>T - - ARHGAP31_000001 not in >2000 control chromosomes PubMed: Southgate 2011, Journal: Southgate 2011, OMIM:var0001 - rs387907031 Germline yes - - - - DNA SEQ - - AOS - PubMed: Southgate 2011, Journal: Southgate 2011 21565291-Fam2PatII3 5-generation family, >8 affecteds (5F, 3M), patient III.1 - no United Kingdom (Great Britain) - - - - - 8 Johan den Dunnen
-?/. - c.2140C>T r.(?) p.(Pro714Ser) Unknown - likely benign g.119132916C>T - ARHGAP31(NM_020754.2):c.2140C>T (p.(Pro714Ser)) - ARHGAP31_000050 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. 12 c.2180C>T r.(?) p.(Thr727Ile) Unknown - likely benign g.119132956C>T g.119414109C>T - - ARHGAP31_000003 2/43 sporadic ACC/TTLD individuals, 2/1138 controls PubMed: Southgate 2011, Journal: Southgate 2011 - - Germline no 4/2362 chromosomes - - - DNA SEQ - - Healthy/Control - PubMed: Southgate 2011, Journal: Southgate 2011 - - - United Kingdom (Great Britain) - - - - - 4 Johan den Dunnen
-?/. - c.2180C>T r.(?) p.(Thr727Ile) Unknown - likely benign g.119132956C>T g.119414109C>T ARHGAP31(NM_020754.4):c.2180C>T (p.T727I) - ARHGAP31_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. 12 c.2193del r.(?) p.(Thr732Glnfs*26) Parent #1 ACGS VUS g.119132969del g.119414122del - - ARHGAP31_000068 - - - - Germline - - - - - DNA SEQ-NG-I Blood Clinical Exome Solution v2 (SOPHiA GENETICS, Lausanne, CH) AOS1 04672 - - - - - - - - - - 3 Lucy Costantino
-?/. - c.2312T>C r.(?) p.(Val771Ala) Unknown - likely benign g.119133088T>C - ARHGAP31(NM_020754.2):c.2312T>C (p.(Val771Ala)) - ARHGAP31_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2323G>A r.(?) p.(Gly775Ser) Unknown - likely benign g.119133099G>A g.119414252G>A ARHGAP31(NM_020754.2):c.2323G>A (p.(Gly775Ser)) - ARHGAP31_000026 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2344C>A r.(?) p.(Pro782Thr) Unknown - likely benign g.119133120C>A - ARHGAP31(NM_020754.3):c.2344C>A (p.P782T) - ARHGAP31_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.2407G>A r.(?) p.(Gly803Ser) Unknown - benign g.119133183G>A g.119414336G>A ARHGAP31(NM_020754.4):c.2407G>A (p.G803S) - ARHGAP31_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2411C>T r.(?) p.(Pro804Leu) Unknown - likely benign g.119133187C>T - ARHGAP31(NM_020754.2):c.2411C>T (p.(Pro804Leu)) - ARHGAP31_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2463G>C r.(?) p.(Gln821His) Unknown - likely benign g.119133239G>C - ARHGAP31(NM_020754.2):c.2463G>C (p.(Gln821His)) - ARHGAP31_000073 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2777C>T r.(?) p.(Ala926Val) Unknown - likely benign g.119133553C>T - ARHGAP31(NM_020754.2):c.2777C>T (p.(Ala926Val)) - ARHGAP31_000074 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2792T>A r.(?) p.(Val931Glu) Unknown - VUS g.119133568T>A g.119414721T>A ARHGAP31(NM_020754.4):c.2792T>A (p.V931E) - ARHGAP31_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2814G>T r.(?) p.(Gln938His) Unknown - likely benign g.119133590G>T - ARHGAP31(NM_020754.2):c.2814G>T (p.(Gln938His)) - ARHGAP31_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2839C>T r.(?) p.(Pro947Ser) Unknown - likely benign g.119133615C>T - ARHGAP31(NM_020754.2):c.2839C>T (p.(Pro947Ser)) - ARHGAP31_000075 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2890C>T r.(?) p.(Gln964Ter) Unknown - likely pathogenic g.119133666C>T g.119414819C>T - - ARHGAP31_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2972C>A r.(?) p.(Ala991Glu) Unknown - likely benign g.119133748C>A - ARHGAP31(NM_020754.2):c.2972C>A (p.(Ala991Glu)) - ARHGAP31_000076 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3104C>T r.(?) p.(Thr1035Ile) Unknown - likely benign g.119133880C>T - ARHGAP31(NM_020754.2):c.3104C>T (p.(Thr1035Ile)) - ARHGAP31_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
./. - c.3127G>A r.(?) p.(Gly1043Arg) Unknown - pathogenic g.119133903G>A g.119415056G>A - - ARHGAP31_000004 - PubMed: DDDS 2015, Journal: DDDS 2015 - - De novo - - - - - 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.3148_3156del r.(?) p.(Leu1050_His1052del) Unknown - VUS g.119133924_119133932del g.119415077_119415085del ARHGAP31(NM_020754.2):c.3148_3156del (p.(Leu1050_His1052del)), ARHGAP31(NM_020754.4):c.3148_3156delCTGGGGCAC (p.L1050_H1052del) - ARHGAP31_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3148_3156del r.(?) p.(Leu1050_His1052del) Unknown - likely benign g.119133924_119133932del - ARHGAP31(NM_020754.2):c.3148_3156del (p.(Leu1050_His1052del)), ARHGAP31(NM_020754.4):c.3148_3156delCTGGGGCAC (p.L1050_H1052del) - ARHGAP31_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3229G>A r.(?) p.(Asp1077Asn) Unknown - VUS g.119134005G>A - ARHGAP31(NM_020754.2):c.3229G>A (p.(Asp1077Asn)) - ARHGAP31_000077 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3255C>T r.(?) p.(Pro1085=) Unknown - likely benign g.119134031C>T - ARHGAP31(NM_020754.3):c.3255C>T (p.P1085=) - ARHGAP31_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3256G>A r.(?) p.(Ala1086Thr) Unknown - likely benign g.119134032G>A - ARHGAP31(NM_020754.2):c.3256G>A (p.(Ala1086Thr)) - ARHGAP31_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 12 c.3260del r.(?) p.(Lys1087Serfs*4) Parent #1 - pathogenic g.119134036del g.119415189del - - ARHGAP31_000002 not in >2000 control chromosomes PubMed: Southgate 2011, Journal: Southgate 2011, OMIM:var0001 - - Germline yes - - - - DNA SEQ - - AOS - PubMed: Southgate 2011, Journal: Southgate 2011 5-generation family, >5 affecteds (4F, M), 1 unaffected carrier - no United Kingdom (Great Britain) - - - - - 5 Johan den Dunnen
-?/. - c.3444T>A r.(?) p.(Ser1148=) Unknown - likely benign g.119134220T>A g.119415373T>A ARHGAP31(NM_020754.3):c.3444T>A (p.S1148=) - ARHGAP31_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3527G>A r.(?) p.(Arg1176His) Unknown - VUS g.119134303G>A - - - ARHGAP31_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3596C>T r.(?) p.(Ala1199Val) Unknown - VUS g.119134372C>T - ARHGAP31(NM_020754.4):c.3596C>T (p.A1199V) - ARHGAP31_000070 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3679C>G r.(?) p.(Gln1227Glu) Unknown - VUS g.119134455C>G - ARHGAP31(NM_020754.4):c.3679C>G (p.Q1227E) - ARHGAP31_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3683C>T r.(?) p.(Pro1228Leu) Unknown - likely benign g.119134459C>T - ARHGAP31(NM_020754.2):c.3683C>T (p.(Pro1228Leu)) - ARHGAP31_000078 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3749A>T r.(?) p.(Asp1250Val) Unknown - likely benign g.119134525A>T - ARHGAP31(NM_020754.2):c.3749A>T (p.(Asp1250Val)) - ARHGAP31_000079 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3802G>A r.(?) p.(Gly1268Arg) Unknown - likely benign g.119134578G>A g.119415731G>A ARHGAP31(NM_020754.2):c.3802G>A (p.(Gly1268Arg)), ARHGAP31(NM_020754.4):c.3802G>A (p.G1268R) - ARHGAP31_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3802G>A r.(?) p.(Gly1268Arg) Unknown - likely benign g.119134578G>A g.119415731G>A ARHGAP31(NM_020754.2):c.3802G>A (p.(Gly1268Arg)), ARHGAP31(NM_020754.4):c.3802G>A (p.G1268R) - ARHGAP31_000033 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3803G>A r.(?) p.(Gly1268Glu) Unknown - likely benign g.119134579G>A - ARHGAP31(NM_020754.2):c.3803G>A (p.(Gly1268Glu)) - ARHGAP31_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3882G>A r.(?) p.(Ser1294=) Unknown - likely benign g.119134658G>A g.119415811G>A ARHGAP31(NM_020754.3):c.3882G>A (p.S1294=) - ARHGAP31_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.4066A>G r.(?) p.(Ile1356Val) Unknown - likely benign g.119134842A>G g.119415995A>G ARHGAP31(NM_020754.2):c.4066A>G (p.(Ile1356Val)) - ARHGAP31_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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