Full data view for gene FA2H

Information The variants shown are described using the NM_024306.4 transcript reference sequence.

68 entries on 1 page. Showing entries 1 - 68.
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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.-84G>C r.(?) p.(=) Unknown - benign g.74808737C>G g.74774839C>G - - FA2H_000023 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.1A>C r.? p.0? Both (homozygous) - pathogenic (recessive) g.74808653T>G - T>G (Met1Leu) - FA2H_000029 - PubMed: Mahler 2019 - - Germline - - - - - DNA SEQ, SEQ-NG - - ? Pat12 PubMed: Mahler 2019 2-generation family, 1 affected, unaffected heterozygous carrier parents - no Germany - - - - - 1 Johan den Dunnen
-?/. - c.21C>A r.(?) p.(Pro7=) Unknown - likely benign g.74808633G>T - FA2H(NM_024306.4):c.21C>A (p.P7=) - FA2H_000035 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 1 c.21del r.(?) p.(Ala8Profs*91) Unknown - pathogenic g.74808638del g.74774740del - - FA2H_000002 - PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - - Germline - - - - - DNA SEQ-NG - - SPG53 Pat16 PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - M - - - - - - - 1 Erik-Jan Kamsteeg
?/. - c.75C>G r.(?) p.(Cys25Trp) Both (homozygous) ACMG VUS (!) g.74808579G>C g.74774681G>C - - FA2H_000039 ACMG: PM1, PM2_SUP, PP3 - - - Germline - - - - - DNA SEQ-NG-I Blood - SPG35 154321 - - M likely Turkey - - - - - 1 Andreas Laner
?/. - c.117C>A r.(?) p.(Phe39Leu) Parent #1 - VUS g.74808537G>T g.74774639G>T - - FA2H_000026 no interpretation available; 2 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs794729215 Germline - 2/2788 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 2 Mohammed Faruq
?/. - c.133G>A r.(?) p.(Gly45Arg) Unknown - VUS g.74808521C>T g.74774623C>T - - FA2H_000018 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.159_176del r.(?) p.(Arg53_Ile58del) Both (homozygous) - pathogenic (recessive) g.74808481_74808498del g.74774583_74774600del - - FA2H_000040 ACMG PMG PS3, PM1, PM4, PM2, PP1, PP4 PubMed: Saadi 2023 - rs759947457 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamGPatV1 PubMed: Saadi 2023 5-generation family, 3 affected sibs (2F, M), unaffected heterozygous parents/relatives F yes Pakistan - - - - - 3 Johan den Dunnen
+/. - c.159_176del r.(?) p.(Arg53_Ile58del) Both (homozygous) - pathogenic (recessive) g.74808481_74808498del g.74774583_74774600del - - FA2H_000040 ACMG PMG PS3, PM1, PM4, PM2, PP1, PP4 PubMed: Saadi 2023 - rs759947457 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamGPatV2 PubMed: Saadi 2023 sister F yes Pakistan - - - - - 1 Johan den Dunnen
+/. - c.159_176del r.(?) p.(Arg53_Ile58del) Both (homozygous) - pathogenic (recessive) g.74808481_74808498del g.74774583_74774600del - - FA2H_000040 ACMG PMG PS3, PM1, PM4, PM2, PP1, PP4 PubMed: Saadi 2023 - rs759947457 Germline yes - - - - DNA SEQ, SEQ-NG - WES ? FamGPatV3 PubMed: Saadi 2023 brother M yes Pakistan - - - - - 1 Johan den Dunnen
-?/. - c.192G>A r.(?) p.(Gly64=) Unknown - likely benign g.74808462C>T g.74774564C>T FA2H(NM_024306.4):c.192G>A (p.G64=) - FA2H_000027 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.202A>G r.(?) p.(Arg68Gly) Unknown - VUS g.74808452T>C g.74774554T>C FA2H(NM_024306.4):c.202A>G (p.R68G) - FA2H_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.202A>G r.(?) p.(Arg68Gly) Unknown - VUS g.74808452T>C g.74774554T>C FA2H(NM_024306.4):c.202A>G (p.R68G) - FA2H_000022 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.207C>G r.(?) p.(His69Gln) Unknown - VUS g.74808447G>C g.74774549G>C - - FA2H_000015 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.209C>G r.(?) p.(Ser70Trp) Unknown - VUS g.74808445G>C g.74774547G>C - - FA2H_000021 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.229C>T r.(?) p.(Leu77=) Unknown - benign g.74808425G>A g.74774527G>A FA2H(NM_024306.4):c.229C>T (p.L77=), FA2H(NM_024306.5):c.229C>T (p.L77=) - FA2H_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.229C>T r.(?) p.(Leu77=) Unknown - benign g.74808425G>A g.74774527G>A FA2H(NM_024306.4):c.229C>T (p.L77=), FA2H(NM_024306.5):c.229C>T (p.L77=) - FA2H_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.229C>T r.(?) p.(Leu77=) Unknown - benign g.74808425G>A g.74774527G>A FA2H(NM_024306.4):c.229C>T (p.L77=), FA2H(NM_024306.5):c.229C>T (p.L77=) - FA2H_000013 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.232G>A r.(?) p.(Glu78Lys) Unknown - likely benign g.74808422C>T g.74774524C>T FA2H(NM_024306.4):c.232G>A (p.E78K), FA2H(NM_024306.5):c.232G>A (p.(Glu78Lys), p.E78K) - FA2H_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.232G>A r.(?) p.(Glu78Lys) Unknown - VUS g.74808422C>T g.74774524C>T FA2H(NM_024306.4):c.232G>A (p.E78K), FA2H(NM_024306.5):c.232G>A (p.(Glu78Lys), p.E78K) - FA2H_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.232G>A r.(?) p.(Glu78Lys) Unknown - VUS g.74808422C>T - FA2H(NM_024306.4):c.232G>A (p.E78K), FA2H(NM_024306.5):c.232G>A (p.(Glu78Lys), p.E78K) - FA2H_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.232G>A r.(?) p.(Glu78Lys) Unknown - VUS g.74808422C>T - FA2H(NM_024306.4):c.232G>A (p.E78K), FA2H(NM_024306.5):c.232G>A (p.(Glu78Lys), p.E78K) - FA2H_000020 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.271-8C>A r.(=) p.(=) Unknown - likely benign g.74774021G>T - FA2H(NM_024306.4):c.271-8C>A - FA2H_000031 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.289C>G r.(?) p.(Pro97Ala) Unknown - likely benign g.74773995G>C g.74740097G>C FA2H(NM_024306.5):c.289C>G (p.(Pro97Ala), p.P97A) - FA2H_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.289C>G r.(?) p.(Pro97Ala) Unknown - likely benign g.74773995G>C g.74740097G>C FA2H(NM_024306.5):c.289C>G (p.(Pro97Ala), p.P97A) - FA2H_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.289C>G r.(?) p.(Pro97Ala) Unknown - likely benign g.74773995G>C - FA2H(NM_024306.5):c.289C>G (p.(Pro97Ala), p.P97A) - FA2H_000012 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.337C>T r.(?) p.(Arg113Trp) Unknown - VUS g.74773947G>A g.74740049G>A FA2H(NM_024306.4):c.337C>T (p.R113W), FA2H(NM_024306.5):c.337C>T (p.R113W) - FA2H_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.337C>T r.(?) p.(Arg113Trp) Unknown - likely benign g.74773947G>A - FA2H(NM_024306.4):c.337C>T (p.R113W), FA2H(NM_024306.5):c.337C>T (p.R113W) - FA2H_000025 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.338G>A r.(?) p.(Arg113Gln) Unknown - likely benign g.74773946C>T g.74740048C>T FA2H(NM_024306.4):c.338G>A (p.R113Q) - FA2H_000019 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.366C>G r.(?) p.(Asp122Glu) Unknown - VUS g.74761282G>C - FA2H(NM_024306.4):c.366C>G (p.D122E) - FA2H_000038 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.468C>G r.(?) p.(Phe156Leu) Unknown - VUS g.74761180G>C - FA2H(NM_024306.5):c.468C>G (p.F156L) - FA2H_000028 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.523A>T r.(?) p.(Ile175Phe) Both (homozygous) - pathogenic (recessive) g.74760213T>A - - - FA2H_000036 - - - - Germline yes - - - - DNA SEQ blood - SPG35 - - - M yes Egypt - - - - - 1 Sherifa Ahmed Hamed
-?/. - c.537G>A r.(?) p.(Leu179=) Unknown - likely benign g.74760199C>T g.74726301C>T FA2H(NM_024306.4):c.537G>A (p.L179=), FA2H(NM_024306.5):c.537G>A (p.L179=) - FA2H_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.537G>A r.(?) p.(Leu179=) Unknown - benign g.74760199C>T g.74726301C>T FA2H(NM_024306.4):c.537G>A (p.L179=), FA2H(NM_024306.5):c.537G>A (p.L179=) - FA2H_000011 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. 4 c.554G>A r.(?) p.(Trp185*) Unknown - pathogenic g.74760182C>T g.74726284C>T - - FA2H_000001 - PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - - Germline - - - - - DNA SEQ-NG - - SPG53 Pat16 PubMed: van de Warrenburg 2016, Journal: van de Warrenburg 2016 - M - - - - - - - 1 Erik-Jan Kamsteeg
+/. - c.554G>A r.(?) p.(Trp185Ter) Unknown - pathogenic g.74760182C>T g.74726284C>T - - FA2H_000001 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.570C>A r.(?) p.(Thr190=) Unknown - likely benign g.74760166G>T g.74726268G>T FA2H(NM_024306.4):c.570C>A (p.T190=), FA2H(NM_024306.5):c.570C>A (p.T190=) - FA2H_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.570C>A r.(?) p.(Thr190=) Unknown - likely benign g.74760166G>T - FA2H(NM_024306.4):c.570C>A (p.T190=), FA2H(NM_024306.5):c.570C>A (p.T190=) - FA2H_000010 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.590G>A r.(?) p.(Arg197Gln) Unknown - VUS g.74760146C>T - FA2H(NM_024306.4):c.590G>A (p.R197Q) - FA2H_000034 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.621G>A r.(?) p.(Thr207=) Unknown - likely benign g.74753051C>T - FA2H(NM_024306.4):c.621G>A (p.T207=) - FA2H_000037 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. 5 c.664G>A r.(?) p.(Gly222Arg) Both (homozygous) - VUS g.74753008C>T g.74719110C>T - - FA2H_000033 - PubMed: Ganapathy 2019 - - Germline - - - - - DNA SEQ-NG - TruSight One panel ? S-5839 PubMed: Ganapathy 2019 - - - India - - - - - 1 Johan den Dunnen
?/. - c.685_687del r.(?) p.(Ile229del) Unknown - VUS g.74752987_74752989del - FA2H(NM_024306.5):c.685_687delATC (p.I229del) - FA2H_000041 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.733G>A r.(?) p.(Asp245Asn) Unknown - likely benign g.74752939C>T g.74719041C>T FA2H(NM_024306.4):c.733G>A (p.D245N) - FA2H_000009 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.798C>T r.(?) p.(Asp266=) Unknown - likely benign g.74750486G>A g.74716588G>A FA2H(NM_024306.4):c.798C>T (p.D266=) - FA2H_000008 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.847G>A r.(?) p.(Val283Ile) Unknown - likely benign g.74750437C>T g.74716539C>T FA2H(NM_024306.4):c.847G>A (p.V283I) - FA2H_000007 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.879C>T r.(?) p.(Pro293=) Unknown - benign g.74750405G>A g.74716507G>A FA2H(NM_024306.4):c.879C>T (p.P293=), FA2H(NM_024306.5):c.879C>T (p.P293=) - FA2H_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.879C>T r.(?) p.(Pro293=) Unknown - benign g.74750405G>A g.74716507G>A FA2H(NM_024306.4):c.879C>T (p.P293=), FA2H(NM_024306.5):c.879C>T (p.P293=) - FA2H_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.879C>T r.(?) p.(Pro293=) Unknown - benign g.74750405G>A g.74716507G>A FA2H(NM_024306.4):c.879C>T (p.P293=), FA2H(NM_024306.5):c.879C>T (p.P293=) - FA2H_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.879C>T r.(?) p.(Pro293=) Unknown - benign g.74750405G>A g.74716507G>A FA2H(NM_024306.4):c.879C>T (p.P293=), FA2H(NM_024306.5):c.879C>T (p.P293=) - FA2H_000014 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.888A>G r.(?) p.(Val296=) Unknown - benign g.74750396T>C g.74716498T>C FA2H(NM_024306.4):c.888A>G (p.V296=), FA2H(NM_024306.5):c.888A>G (p.V296=) - FA2H_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.888A>G r.(?) p.(Val296=) Unknown - benign g.74750396T>C g.74716498T>C FA2H(NM_024306.4):c.888A>G (p.V296=), FA2H(NM_024306.5):c.888A>G (p.V296=) - FA2H_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.888A>G r.(?) p.(Val296=) Unknown - benign g.74750396T>C g.74716498T>C FA2H(NM_024306.4):c.888A>G (p.V296=), FA2H(NM_024306.5):c.888A>G (p.V296=) - FA2H_000006 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.925G>A r.(?) p.(Val309Ile) Unknown - VUS g.74750359C>T g.74716461C>T FA2H(NM_024306.4):c.925G>A (p.V309I) - FA2H_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.925G>A r.(?) p.(Val309Ile) Unknown - VUS g.74750359C>T - FA2H(NM_024306.4):c.925G>A (p.V309I) - FA2H_000024 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.933T>C r.(?) p.(Tyr311=) Unknown - benign g.74750351A>G g.74716453A>G FA2H(NM_024306.5):c.933T>C (p.(Tyr311=), p.Y311=) - FA2H_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.933T>C r.(?) p.(Tyr311=) Unknown - benign g.74750351A>G g.74716453A>G FA2H(NM_024306.5):c.933T>C (p.(Tyr311=), p.Y311=) - FA2H_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.933T>C r.(=) p.(=) Parent #1 - likely benign g.74750351A>G g.74716453A>G - - FA2H_000005 100 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs11554620 Germline - 100/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 100 Mohammed Faruq
-/. - c.933T>C r.(?) p.(Tyr311=) Unknown - benign g.74750351A>G - FA2H(NM_024306.5):c.933T>C (p.(Tyr311=), p.Y311=) - FA2H_000005 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.997A>C r.(?) p.(Lys333Gln) Unknown - VUS g.74750287T>G - FA2H(NM_024306.4):c.997A>C (p.K333Q) - FA2H_000030 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1039+8T>C r.(=) p.(=) Unknown - benign g.74750237A>G g.74716339A>G FA2H(NM_024306.5):c.1039+8T>C - FA2H_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1039+8T>C r.(=) p.(=) Unknown - benign g.74750237A>G g.74716339A>G FA2H(NM_024306.5):c.1039+8T>C - FA2H_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1039+8T>C r.(=) p.(=) Parent #1 - benign g.74750237A>G g.74716339A>G - - FA2H_000004 99 heterozygous, no homozygous; Clinindb (India) PubMed: Narang 2020, Journal: Narang 2020 - rs6564160 Germline - 99/2795 individuals - - - DNA arraySNP - Infinium Global Screening Array v1.0 ? - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - 99 Mohammed Faruq
-/. - c.1039+8T>C r.(=) p.(=) Unknown - benign g.74750237A>G - FA2H(NM_024306.5):c.1039+8T>C - FA2H_000004 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1039+16T>G r.(=) p.(=) Unknown - benign g.74750229A>C g.74716331A>C FA2H(NM_024306.5):c.1039+16T>G - FA2H_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.1039+16T>G r.(=) p.(=) Unknown - benign g.74750229A>C g.74716331A>C FA2H(NM_024306.5):c.1039+16T>G - FA2H_000003 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1070A>G r.(?) p.(Tyr357Cys) Unknown - VUS g.74748137T>C - FA2H(NM_024306.4):c.1070A>G (p.Y357C) - FA2H_000032 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1119A>T r.(?) p.(*373Cysext*48) Unknown - VUS g.74748088T>A - FA2H(NM_024306.5):c.1119A>T (p.(*373Cysext*48), p.*373Cext*48) - FA2H_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.1119A>T r.(?) p.(*373Cysext*48) Unknown - VUS g.74748088T>A - FA2H(NM_024306.5):c.1119A>T (p.(*373Cysext*48), p.*373Cext*48) - FA2H_000042 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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