Full data view for gene CYFIP2

Information The variants shown are described using the NM_001037332.2 transcript reference sequence.

87 entries on 1 page. Showing entries 1 - 87.
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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.-3806T>C r.(?) p.(=) Unknown - likely benign g.156689812T>C - CYFIP2(NM_001037333.3):c.-3417T>C - CYFIP2_000053 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.207+1908G>A r.(=) p.(=) Unknown - likely benign g.156716025G>A - CYFIP2(NM_001037333.3):c.207+1908G>A - CYFIP2_000054 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.259C>A r.(?) p.(Arg87Ser) Unknown - likely pathogenic (dominant) g.156721843C>A g.157294834C>A - - CYFIP2_000012 - Zweier et al., submitted - - De novo - - - - - DNA ? - - NDD Individual 4 Begemann et al., submitted - M no - - - - - - 1 Markus Zweier
+?/. - c.259C>T r.(?) p.(Arg87Cys) Unknown - likely pathogenic g.156721843C>T g.157294834C>T - - CYFIP2_000002 - PubMed: Zweier 2019, Journal: Zweier 2019 - - De novo - - - - - DNA SEQ-NG-I blood WES EE - PubMed: Zweier 2019, Journal: Zweier 2019 - F no Switzerland - - - - - 1 Anaïs Begemann
+?/. - c.259C>T r.(?) p.(Arg87Cys) Unknown - likely pathogenic g.156721843C>T g.157294834C>T - - CYFIP2_000002 - PubMed: Zweier 2019, Journal: Zweier 2019 - - De novo - - - - - DNA SEQ-NG - WGS EIEE - PubMed: Zweier 2019, Journal: Zweier 2019 - M no United States - - - - - 1 Anaïs Begemann
+?/. - c.259C>T r.(?) p.(Arg87Cys) Unknown - likely pathogenic g.156721843C>T g.157294834C>T - - CYFIP2_000002 - PubMed: Zweier 2019, Journal: Zweier 2019 - - De novo - - - - - DNA SEQ-NG - WES EE - PubMed: Zweier 2019, Journal: Zweier 2019 - F no United States Nigerian - - - - 1 Anaïs Begemann
+?/. - c.259C>T r.(?) p.(Arg87Cys) Unknown - likely pathogenic g.156721843C>T g.157294834C>T - - CYFIP2_000002 - PubMed: Zweier 2019, Journal: Zweier 2019 - - De novo - - - - - DNA SEQ-NG - WES EE - PubMed: Zweier 2019, Journal: Zweier 2019 - F no United States Mexican - - - - 1 Anaïs Begemann
?/. - c.259C>T r.(?) p.(Arg87Cys) Unknown - likely pathogenic (dominant) g.156721843C>T g.157294834C>T - - CYFIP2_000002 - Zweier et al., submitted - - De novo - - - - - DNA ? - - NDD Individual 1 Begemann et al., submitted - F no - - - - - - 1 Markus Zweier
?/. - c.259C>T r.(?) p.(Arg87Cys) Unknown - likely pathogenic (dominant) g.156721843C>T g.157294834C>T - - CYFIP2_000002 - Zweier et al., submitted - - De novo - - - - - DNA ? - - NDD Individual 2 Begemann et al., submitted - M no - - - - - - 1 Markus Zweier
?/. - c.259C>T r.(?) p.(Arg87Cys) Unknown - likely pathogenic (dominant) g.156721843C>T g.157294834C>T - - CYFIP2_000002 - Zweier et al., submitted - - De novo - - - - - DNA ? - - NDD Individual 3 Begemann et al., submitted - M no - - - - - - 1 Markus Zweier
+/. - c.259C>T r.(?) p.(Arg87Cys) Unknown - pathogenic (dominant) g.156721843C>T g.157294834C>T - - CYFIP2_000002 - PubMed: Nakashima 2018 - - De novo - 1/210 EE families - - - DNA SEQ, SEQ-NG - WES trio EE Pat2 PubMed: Nakashima 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - 1 Johan den Dunnen
+/. - c.259C>T r.(?) p.(Arg87Cys) Unknown - pathogenic (dominant) g.156721843C>T g.157294834C>T - - CYFIP2_000002 - PubMed: Nakashima 2018 - - De novo - 1/210 EE families - - - DNA SEQ, SEQ-NG - WES trio EE Pat4 PubMed: Nakashima 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - 1 Johan den Dunnen
?/. - c.260G>A r.(?) p.(Arg87His) Unknown - likely pathogenic (dominant) g.156721844G>A g.157294835G>A - - CYFIP2_000013 - Zweier et al., submitted - - Unknown - - - - - DNA ? - - NDD Individual 5 Begemann et al., submitted - M no - - - - - - 1 Markus Zweier
+?/. - c.260G>A r.(?) p.(Arg87His) Unknown - likely pathogenic g.156721844G>A - CYFIP2(NM_001037333.3):c.260G>A (p.R87H) - CYFIP2_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.260G>C r.(?) p.(Arg87Pro) Unknown - pathogenic (dominant) g.156721844G>C g.157294835G>C - - CYFIP2_000027 - PubMed: Nakashima 2018 - - De novo - 1/210 EE families - - - DNA SEQ, SEQ-NG - WES trio EE Pat3 PubMed: Nakashima 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - 1 Johan den Dunnen
+/. - c.260G>T r.(?) p.(Arg87Leu) Unknown - pathogenic (dominant) g.156721844G>T g.157294835G>T - - CYFIP2_000026 - PubMed: Nakashima 2018 - - De novo - 1/210 EE families - - - DNA SEQ, SEQ-NG - WES trio EE Pat1 PubMed: Nakashima 2018 2-generation family, 1 affected, unaffected non-carrier parents M - Japan - - - - - 1 Johan den Dunnen
+?/. - c.322T>C r.(?) p.(Tyr108His) Unknown - likely pathogenic g.156723717T>C g.157296709T>C - - CYFIP2_000009 - PubMed: Zweier 2019, Journal: Zweier 2019 - - De novo - - - - - DNA SEQ-NG - WES EE - PubMed: Zweier 2019, Journal: Zweier 2019 - F no France - - - - - 1 Anaïs Begemann
?/. - c.352G>A r.(?) p.(Glu118Lys) Unknown - VUS g.156723747G>A - CYFIP2(NM_001037333.1):c.352G>A (p.(Ala118Thr)) - CYFIP2_000048 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.388-942A>C r.(=) p.(=) Unknown - likely benign g.156726781A>C - CYFIP2(NM_001037333.3):c.388-942A>C - CYFIP2_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. Ex8 c.748G>A r.(?) p.(Glu250Lys) Unknown ACMG VUS (!) g.156731327G>A g.157304319G>A - - CYFIP2_000050 ACMG: PS2_MOD, PM2_SUP, PP2, confirmed de novo (MGZ), Invitae: detected in one individual who was tested as a newborn after he developed seizures/possible infantile spasms in the first few days of life. No further clinical information was provided and no family studies were pursued. This patient has a likely pathogenic variant in GNAO1 which may explain their phenotype; carries pathogenic variant in UBA2 (OMIM #619959; ACCES Syndrome) explaining some of the phenotypic features, but not all. - VCV002767765.1 - De novo - - - - - DNA SEQ-NG-I Blood - EIEE65 72432 - - M no Germany - - - - - 1 Andreas Laner
?/. - c.771dup r.(?) p.(Ser258Glnfs*2) Unknown - VUS g.156731350dup g.157304342dup - - CYFIP2_000014 - Zweier et al., submitted - - Unknown - - - - - DNA ? - - NDD Individual 19 Begemann et al., submitted - - yes - - - - - - 1 Markus Zweier
-?/. - c.795+7C>A r.(=) p.(=) Unknown - likely benign g.156731381C>A - CYFIP2(NM_001037333.3):c.795+7C>A - CYFIP2_000055 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.932T>C r.(?) p.(Met311Thr) Unknown - likely pathogenic (dominant) g.156736782T>C g.157309774T>C - - CYFIP2_000015 - Zweier et al., submitted - - De novo - - - - - DNA ? - - NDD Individual 10 Begemann et al., submitted - F - - - - - - - 1 Markus Zweier
-?/. - c.990C>T r.(?) p.(=) Unknown - likely benign g.156736840C>T - CYFIP2(NM_001037333.3):c.990C>T (p.S330=) - CYFIP2_000052 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.998C>T r.(?) p.(Thr333Met) Unknown - VUS g.156738677C>T - CYFIP2(NM_001037333.3):c.998C>T (p.T333M) - CYFIP2_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1111-317C>T r.(=) p.(=) Unknown - likely benign g.156741035C>T - CYFIP2(NM_001037333.3):c.1111-317C>T - CYFIP2_000059 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1111-17C>G r.(=) p.(=) Unknown - likely benign g.156741335C>G - CYFIP2(NM_001037333.3):c.1111-17C>G - CYFIP2_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1328C>T r.(?) p.(Thr443Ile) Unknown - VUS g.156742074C>T - CYFIP2(NM_001037333.3):c.1328C>T (p.T443I) - CYFIP2_000029 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1355A>T r.(?) p.(Glu452Val) Unknown ACMG pathogenic g.156742101A>T g.157315093A>T - - CYFIP2_000033 - PubMed: Lin 2023, Journal: Lin 2023 - - De novo ? - - - - DNA SEQ-NG-I - Exome sequencing NDD Fam5PatIV1 PubMed: Lin 2023, Journal: Lin 2023 4-generation family, 1 affected, unaffected parents M yes United States African-American - - - - 1 Barbara Vona
-?/. - c.1357-6G>A r.(=) p.(=) Unknown - likely benign g.156746764G>A - CYFIP2(NM_001037333.3):c.1357-6G>A - CYFIP2_000043 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1363G>A r.(?) p.(Ala455Thr) Unknown - VUS g.156746776G>A - - - CYFIP2_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1363G>C r.(?) p.(Ala455Pro) Unknown - likely pathogenic g.156746776G>C g.157319768G>C - - CYFIP2_000007 - PubMed: Zweier 2019, Journal: Zweier 2019 - - De novo - - - - - DNA SEQ-NG - WES EE - PubMed: Zweier 2019, Journal: Zweier 2019 - M no Germany - - - - - 1 Anaïs Begemann
?/. - c.1366A>G r.(?) p.(Met456Val) Unknown - VUS g.156746779A>G g.157319771A>G - - CYFIP2_000016 - Zweier et al., submitted - - Unknown - - - - - DNA ? - - NDD Individual 14 Begemann et al., submitted - M no - - - - - - 1 Markus Zweier
?/. - c.1404G>C r.(?) p.(Glu468Asp) Unknown - likely pathogenic (dominant) g.156746817G>C g.157319809G>C - - CYFIP2_000017 - Zweier et al., submitted - - De novo - - - - - DNA ? - - NDD Individual 11 Begemann et al., submitted - - no - - - - - - 1 Markus Zweier
?/. - c.1469C>T r.(?) p.(Thr490Met) Unknown - likely pathogenic (dominant) g.156746882C>T g.157319874C>T - - CYFIP2_000018 - Zweier et al., submitted - - De novo - - - - - DNA ? - - NDD Individual 12 Begemann et al., submitted - M no - - - - - - 1 Markus Zweier
?/. - c.1501A>T r.(?) p.(Lys501*) Unknown - VUS g.156746914A>T g.157319906A>T - - CYFIP2_000019 - Zweier et al., submitted - - De novo - - - - - DNA ? - - del 2q37;BDMR Individual 18 Begemann et al., submitted - - no - - - - - - 1 Markus Zweier
-?/. - c.1671+3A>G r.spl? p.? Unknown - likely benign g.156747813A>G - CYFIP2(NM_001037333.3):c.1671+3A>G - CYFIP2_000060 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.1825+10A>G r.(=) p.(=) Unknown - likely benign g.156751092A>G - CYFIP2(NM_001037333.3):c.1825+10A>G - CYFIP2_000061 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.1917C>G r.(?) p.(Ile639Met) Unknown - likely pathogenic g.156752581C>G g.157325573C>G - - CYFIP2_000005 - PubMed: Zweier 2019, Journal: Zweier 2019 - - De novo - - - - - DNA SEQ-NG - WES EE - PubMed: Zweier 2019, Journal: Zweier 2019 - F no Estonia - - - - - 1 Anaïs Begemann
+?/. - c.1917C>G r.(?) p.(Ile639Met) Unknown - likely pathogenic g.156752581C>G g.157325573C>G - - CYFIP2_000005 - PubMed: Zweier 2019, Journal: Zweier 2019 - - De novo - - - - - DNA SEQ-NG - WES DD - PubMed: Zweier 2019, Journal: Zweier 2019 - M no United Kingdom (Great Britain) - - - - - 1 Anaïs Begemann
+?/. - c.1918G>A r.(?) p.(Glu640Lys) Unknown - likely pathogenic g.156752582G>A g.157325574G>A - - CYFIP2_000006 - PubMed: Zweier 2019, Journal: Zweier 2019 - - De novo - - - - - DNA SEQ-NG - WES epilepsy - PubMed: Zweier 2019, Journal: Zweier 2019 - M no United Kingdom (Great Britain) - - - - - 1 Anaïs Begemann
?/. - c.1983-1G>C r.spl p.? Unknown - likely pathogenic (dominant) g.156753178G>C g.157326170G>C - - CYFIP2_000024 - Zweier et al., submitted - - Unknown - - - - - DNA ? - - del 2q37;BDMR Individual 17 Begemann et al., submitted - F no - - - - - - 1 Markus Zweier
?/. - c.1994A>G r.(?) p.(Tyr665Cys) Unknown - likely pathogenic (dominant) g.156753190A>G g.157326182A>G - - CYFIP2_000023 - Zweier et al., submitted - - De novo - - - - - DNA ? - - NDD Individual 13 Begemann et al., submitted - F - - - - - - - 1 Markus Zweier
-?/. - c.2013C>T r.(?) p.(=) Unknown - likely benign g.156753209C>T - CYFIP2(NM_001037333.3):c.2013C>T (p.N671=) - CYFIP2_000044 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2020G>T r.(?) p.(Ala674Ser) Unknown - VUS g.156753216G>T - CYFIP2(NM_001037333.3):c.2020G>T (p.A674S) - CYFIP2_000040 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.2095G>C r.(?) p.(Asp699His) Unknown - likely pathogenic g.156754996G>C g.157327988G>C - - CYFIP2_000008 - PubMed: Zweier 2019, Journal: Zweier 2019 - - De novo - - - - - DNA SEQ-NG - WES DD - PubMed: Zweier 2019, Journal: Zweier 2019 - M - Germany - - - - - 1 Anaïs Begemann
?/. - c.2095G>C r.(?) p.(Asp699His) Unknown - likely pathogenic (dominant) g.156754996G>C g.157327988G>C - - CYFIP2_000008 - Zweier et al., submitted - - De novo - - - - - DNA ? - - NDD Individual 6 Begemann et al., submitted - M no - - - - - - 1 Markus Zweier
?/. - c.2095G>C r.(?) p.(Asp699His) Unknown - likely pathogenic (dominant) g.156754996G>C g.157327988G>C - - CYFIP2_000008 - Zweier et al., submitted - - De novo - - - - - DNA ? - - NDD Individual 7 Begemann et al., submitted - M no - - - - - - 1 Markus Zweier
?/. - c.2095G>T r.(?) p.(Asp699Tyr) Unknown - likely pathogenic (dominant) g.156754996G>T g.157327988G>T - - CYFIP2_000025 - Zweier et al., submitted - - De novo - - - - - DNA ? - - NDD Individual 8 Begemann et al., submitted - - no - - - - - - 1 Markus Zweier
?/. - c.2096A>G r.(?) p.(Asp699Gly) Unknown - likely pathogenic (dominant) g.156754997A>G g.157327989A>G - - CYFIP2_000022 - Zweier et al., submitted - - De novo - - - - - DNA ? - - NDD Individual 9 Begemann et al., submitted - - no - - - - - - 1 Markus Zweier
+?/. - c.2099A>G r.(?) p.(Gln700Arg) Unknown - likely pathogenic g.156755000A>G g.157327992A>G - - CYFIP2_000004 - PubMed: Zweier 2019, Journal: Zweier 2019 - - De novo - - - - - DNA SEQ-NG - WES EE - PubMed: Zweier 2019, Journal: Zweier 2019 - F no United States - - - - - 1 Anaïs Begemann
-?/. - c.2386-3C>T r.spl? p.? Unknown - likely benign g.156766062C>T - CYFIP2(NM_001037333.3):c.2386-3C>T - CYFIP2_000056 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2414G>A r.(?) p.(Arg805Gln) Unknown - likely benign g.156766093G>A - CYFIP2(NM_001037333.3):c.2414G>A (p.R805Q) - CYFIP2_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2588T>C r.(?) p.(Phe863Ser) Unknown - likely pathogenic (dominant) g.156768080T>C g.157341072T>C - - CYFIP2_000021 - Zweier et al., submitted - - Unknown - - - - - DNA ? - - NDD Individual 15 Begemann et al., submitted - - no - - - - - - 1 Markus Zweier
+?/. - c.2632A>G r.(?) p.(Lys878Glu) Unknown - likely pathogenic g.156768124A>G g.157341116A>G - - CYFIP2_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.2673+2055G>A r.(=) p.(=) Unknown - likely benign g.156770220G>A - CYFIP2(NM_001037333.3):c.2673+2055G>A - CYFIP2_000051 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2673+2210G>A r.(=) p.(=) Unknown - VUS g.156770375G>A - FNDC9(NM_001001343.3):c.170C>T (p.(Thr57Met)) - CYFIP2_000049 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.2818-7T>C r.(=) p.(=) Unknown - VUS g.156787283T>C - CYFIP2(NM_001037333.3):c.2818-7T>C - CYFIP2_000057 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3134G>A r.(?) p.(Arg1045Gln) Unknown - VUS g.156810294G>A - CYFIP2(NM_001037333.3):c.3134G>A (p.R1045Q) - CYFIP2_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3162C>T r.(?) p.(=) Unknown - likely benign g.156810322C>T - CYFIP2(NM_001037333.3):c.3162C>T (p.A1054=) - CYFIP2_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3446+8C>T r.(=) p.(=) Unknown - likely benign g.156816443C>T - CYFIP2(NM_001037333.3):c.3446+8C>T - CYFIP2_000045 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.3447-137C>T r.(=) p.(=) Unknown - likely benign g.156817392C>T - CYFIP2(NM_001037333.3):c.3447-137C>T - CYFIP2_000046 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3451T>C r.(?) p.(Cys1151Arg) Unknown - VUS g.156817533T>C - CYFIP2(NM_014376.4):c.3451T>C (p.C1151R) - CYFIP2_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3514C>T r.(?) p.(Arg1172Cys) Unknown - VUS g.156817596C>T - CYFIP2(NM_001037333.3):c.3514C>T (p.R1172C) - CYFIP2_000039 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.3541C>T r.(?) p.(His1181Tyr) Unknown - likely pathogenic (dominant) g.156817623C>T g.157390615C>T - - CYFIP2_000020 - Zweier et al., submitted - - Unknown - - - - - DNA ? - - NDD Individual 16 Begemann et al., submitted - - no - - - - - - 1 Markus Zweier
+?/. - c.3594+1G>T r.3447_3594del p.Glu1149Aspfs*3 Unknown - likely pathogenic g.156817677G>T g.157390669G>T - - CYFIP2_000003 effect on RNA tested with RT-PCR of RNA from peripheral blood PubMed: Zweier 2019, Journal: Zweier 2019 - - De novo - - - - - DNA, RNA RT-PCR, SEQ, SEQ-NG - WES EIEE - PubMed: Zweier 2019, Journal: Zweier 2019 - F no United States - - - - - 1 Anaïs Begemann
-/. - c.*67125A>G r.(=) p.(=) Unknown - benign g.156887133A>G g.157460125A>G NIPAL4(NM_001099287.2):c.-196A>G - NIPAL4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*67125A>G r.(=) p.(=) Unknown - benign g.156887133A>G g.157460125A>G NIPAL4(NM_001099287.2):c.-196A>G - NIPAL4_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*70153C>T r.(=) p.(=) Unknown - likely benign g.156890161C>T - NIPAL4(NM_001099287.1):c.283C>T (p.L95F) - CYFIP2_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*70268G>T r.(=) p.(=) Unknown - VUS g.156890276G>T g.157463268G>T - - CYFIP2_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*70338G>A r.(=) p.(=) Unknown - pathogenic g.156890346G>A - NIPAL4(NM_001099287.2):c.277+5G>A - CYFIP2_000036 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*74089G>A r.(=) p.(=) Unknown - pathogenic g.156894097G>A - NIPAL4(NM_001099287.2):c.318G>A (p.W106*) - CYFIP2_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*75728C>A r.(=) p.(=) Unknown - pathogenic g.156895736C>A g.157468728C>A NIPAL4(NM_001099287.1):c.527C>A (p.A176D), NIPAL4(NM_001099287.2):c.341C>A (p.A114D), NIPAL4(NM_001172292.1):c.470C>A (p.A157D) - NIPAL4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*75728C>A r.(=) p.(=) Unknown - likely pathogenic g.156895736C>A - NIPAL4(NM_001099287.1):c.527C>A (p.A176D), NIPAL4(NM_001099287.2):c.341C>A (p.A114D), NIPAL4(NM_001172292.1):c.470C>A (p.A157D) - NIPAL4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+?/. - c.*75728C>A r.(=) p.(=) Unknown - likely pathogenic g.156895736C>A - NIPAL4(NM_001099287.1):c.527C>A (p.A176D), NIPAL4(NM_001099287.2):c.341C>A (p.A114D), NIPAL4(NM_001172292.1):c.470C>A (p.A157D) - NIPAL4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*75728C>A r.(=) p.(=) Unknown - pathogenic g.156895736C>A - NIPAL4(NM_001099287.1):c.527C>A (p.A176D), NIPAL4(NM_001099287.2):c.341C>A (p.A114D), NIPAL4(NM_001172292.1):c.470C>A (p.A157D) - NIPAL4_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*75756C>A r.(=) p.(=) Unknown - pathogenic g.156895764C>A g.157468756C>A NIPAL4(NM_001099287.1):c.555C>A (p.Y185*) - NIPAL4_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*78682A>G r.(=) p.(=) Unknown - benign g.156898690A>G g.157471682A>G NIPAL4(NM_001099287.2):c.451A>G (p.R151G) - NIPAL4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*78682A>G r.(=) p.(=) Unknown - benign g.156898690A>G g.157471682A>G NIPAL4(NM_001099287.2):c.451A>G (p.R151G) - NIPAL4_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*79334T>A r.(=) p.(=) Unknown - VUS g.156899342T>A - NIPAL4(NM_001099287.2):c.589T>A (p.(Phe197Ile)) - CYFIP2_000062 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*79397C>T r.(=) p.(=) Unknown - VUS g.156899405C>T - NIPAL4(NM_001099287.1):c.838C>T (p.R280C) - CYFIP2_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.*79448G>A r.(=) p.(=) Unknown - pathogenic g.156899456G>A g.157472448G>A - - CYFIP2_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*79861T>C r.(=) p.(=) Unknown - benign g.156899869T>C g.157472861T>C NIPAL4(NM_001099287.2):c.1116T>C (p.V372=) - ADAM19_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*79861T>C r.(=) p.(=) Unknown - benign g.156899869T>C g.157472861T>C NIPAL4(NM_001099287.2):c.1116T>C (p.V372=) - ADAM19_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.*79917C>T r.(=) p.(=) Unknown - benign g.156899925C>T g.157472917C>T - - ADAM19_000002 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.*106609C>T r.(=) p.(=) Unknown - likely benign g.156926617C>T - ADAM19(NM_033274.4):c.1362G>A (p.A454=) - ADAM19_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.*171403C>T r.(=) p.(=) Unknown - VUS g.156991411C>T - ADAM19(NM_033274.5):c.221G>A (p.(Arg74Gln)) - CYFIP2_000047 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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