Full data view for gene TMEM38B


Osteogenesis Imperfecta Variant Database
Information The variants shown are described using the NM_018112.2 transcript reference sequence.

55 entries on 1 page. Showing entries 1 - 55.
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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     
+/+ _1_2i c.-136_270-5335{0} r.0? p.0? Both (homozygous) - pathogenic g.108444592_108478483del g.105682311_105716202del GRCh38 chr9:g.105,682,311_105,716,202del - TMEM38B_000004 - PubMed: Rubinato 2014 - - Germline - - - - - DNA PCR, SEQ - - OI - PubMed: Rubinato 2014 The parents are possibly related.; The 33,892 bp deletion spans exons 1 and 2. It was originally reported as chr9:108444592_108478483del, probably for an earlier genome build. - - Albania - - - - - 1 Raymond Dalgleish
+/+ _1_2i c.-136_270-5335{0} r.0? p.0? Paternal (confirmed) - pathogenic g.108444592_108478483del g.105682311_105716202del GRCh38 chr9:g.105,682,311_105,716,202del - TMEM38B_000004 - PubMed: Cabral 2016 - - Germline - - - - - DNA PCR, SEQ - - OI Proband 2 PubMed: Cabral 2016 - - - - Europe - - - - 1 Raymond Dalgleish
?/. - c.38C>G r.(?) p.(Ser13Cys) Unknown - VUS g.108456979C>G g.105694698C>G TMEM38B(NM_018112.1):c.38C>G (p.(Ser13Cys)) - TMEM38B_000106 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.43A>C r.(?) p.(Thr15Pro) Unknown - VUS g.108456984A>C - - - TMEM38B_000112 - - - rs138722007 Unknown - - - - - - - - - - - - - - - - - - - - - - -
+/+ 1 c.63dup r.(?) p.(Asp22*) Maternal (confirmed) - pathogenic g.108457004dup - 63dupT - TMEM38B_000005 - PubMed: Cabral 2016 - - Germline - - - - - DNA PCR, SEQ - - OI Proband 2 PubMed: Cabral 2016 - - - - Europe - - - - 1 Raymond Dalgleish
+?/. - c.112+1dup r.spl p.? Both (homozygous) - likely pathogenic g.108457054dup g.105694773dup - - TMEM38B_000109 both unaffected parents heterozygous carriers PubMed: Demir 2021 - - Germline - - - - - DNA SEQ, SEQ-NG - 57-gene panel OI B40 PubMed: Demir 2021 analysis 43 OI patients M - Turkey - - - - - 1 Johan den Dunnen
+/. - c.112+1G>A r.spl p.? Both (homozygous) - pathogenic g.108457054G>A g.105694773G>A - - TMEM38B_000115 ACMG PM4, PS3, PP3, PP5, BS3 PubMed: Tuysuz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat110 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
+/. - c.112+1G>A r.spl p.? Both (homozygous) - pathogenic g.108457054G>A g.105694773G>A - - TMEM38B_000115 ACMG PM1, PM2, PM5, PP2, PP3, PM6 PubMed: Tuysuz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat111 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
-/. - c.113-7A>G r.(=) p.(=) Unknown - benign g.108467871A>G g.105705590A>G TMEM38B(NM_018112.1):c.113-7A>G (p.(=)), TMEM38B(NM_018112.3):c.113-7A>G - TMEM38B_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.113-7A>G r.(=) p.(=) Unknown - likely benign g.108467871A>G g.105705590A>G TMEM38B(NM_018112.1):c.113-7A>G (p.(=)), TMEM38B(NM_018112.3):c.113-7A>G - TMEM38B_000101 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/? 2 c.150C>G r.(?) p.(Ser50Arg) Maternal (confirmed) - pathogenic g.108467915C>G - - - TMEM38B_000008 - PubMed: Cao 2019 - - Germline - - - - - DNA SEQ - - OI P2 PubMed: Cao 2019 - - - China - - - - - 1 Raymond Dalgleish
+/. - c.163dup r.(?) p.(Met55Asnfs*28) Unknown - pathogenic g.108467928dup - - - TMEM38B_000111 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.176T>G r.(?) p.(Phe59Cys) Unknown - VUS g.108467941T>G - TMEM38B(NM_018112.3):c.176T>G (p.(Phe59Cys)) - TMEM38B_000114 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/. - c.411C>A r.(?) p.(Tyr137Ter) Unknown - pathogenic g.108483959C>A g.105721678C>A TMEM38B(NM_018112.3):c.411C>A (p.Y137*) - TMEM38B_000102 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
+/+ 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Volodarsky 2013 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - OI P3-IV:1 PubMed: Volodarsky 2013 - - - Israel Bedouin - - - - 1 Michael Volodarsky
+/+ 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Volodarsky 2013 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - OI P1-II:1 PubMed: Volodarsky 2013 - - - Israel Bedouin - - - - 1 Michael Volodarsky
+/+ 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Volodarsky 2013 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - OI P2-IV:1 PubMed: Volodarsky 2013 - - - Israel Bedouin - - - - 1 Michael Volodarsky
+/+ 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Cabral 2016 - - Germline - - - - - DNA PCR, SEQ - - OI Proband 1 PubMed: Cabral 2016 - - yes Saudi Arabia - - - - - 1 Raymond Dalgleish
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA arrayCGH, PCR, SEQ - - OI AN_005820 PubMed: Essawi 2018 Additional two sisters of the proband were found homozygous for the same mutation - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA arrayCGH, PCR, arraySEQ - - OI AN_005821 PubMed: Essawi 2018 An additional sister and two cousins of the proband were found homozygous for the same mutation - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005822 PubMed: Essawi 2018 - - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Paternal (inferred) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA arrayCGH, PCR, SEQ - - OI AN_005823 PubMed: Essawi 2018 - - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005824 PubMed: Essawi 2018 - - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005825 PubMed: Essawi 2018 - - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005826 PubMed: Essawi 2018 - - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005827 PubMed: Essawi 2018 The probands sister harbors the same homozygous mutation - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005828 PubMed: Essawi 2018 The probands OI diagnosed sister harbors the same homozygous mutation - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005829 PubMed: Essawi 2018 - - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005830 PubMed: Essawi 2018 - - - Palestine - - - - - 1 Sofie Symoens
+/? 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Essawi 2018 - - Germline - - - - - DNA PCR, SEQ - - OI AN_005831 PubMed: Essawi 2018 Additional 2 cousins were found homozygous for the same deletion - - Palestine - - - - - 1 Sofie Symoens
+/+ 3i_4i c.454+279_543-5092delinsATTAAGGTATA r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.108484281_108505262delinsATTAAGGTATA g.105722000_105742981delinsATTAAGGTATA g.32476_53457delinsATTAAGGTATA - TMEM38B_000003 - PubMed: Caparros-Martin 2016 - - Germline - - - - - DNA PCR, SEQ - - OI No. 1 PubMed: Caparros-Martin 2016 - - - Egypt - - - - - 1 Raymond Dalgleish
+/. 3i c.455-7T>G r.spl p.? Parent #1 - pathogenic (dominant) g.108484808T>G g.105722527T>G - - TMEM38B_000007 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam28 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - 1 Johan den Dunnen
+/+ 3i c.455-7T>G r.spl p.Arg151_Gly152insValLeu Both (homozygous) - pathogenic g.108484808T>G - - - TMEM38B_000007 shifts the 3ยด splice site by six bases and results in a two-amino-acid insertion PubMed: Lv 2016 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - OI Family 1 PubMed: Lv 2016 - - - China Han - - - - 1 Raymond Dalgleish
+/+ 3i_4i c.(454+1_455-1)_(542+1_543-1)del r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.(108484003_108484814)_(108484903_108510353)del g.(105721722_105722533)_(105722622_105748072)del c.455-?_542+?del - TMEM38B_000001 - PubMed: Shaheen 2012 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - OI OI-F3 IV:2 PubMed: Shaheen 2012 - - - Saudi Arabia - - - - - 1 Raymond Dalgleish
+/+ 3i_4i c.(454+1_455-1)_(542+1_543-1)del r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.(108484003_108484814)_(108484903_108510353)del g.(105721722_105722533)_(105722622_105748072)del c.455-?_542+?del - TMEM38B_000001 - PubMed: Shaheen 2012 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - OI OI-F11 IV:3 PubMed: Shaheen 2012 - - - Saudi Arabia - - - - - 1 Raymond Dalgleish
+/+ 3i_4i c.(454+1_455-1)_(542+1_543-1)del r.spl p.(Gly152Alafs*5) Both (homozygous) - pathogenic g.(108484003_108484814)_(108484903_108510353)del g.(105721722_105722533)_(105722622_105748072)del c.455-?_542+?del - TMEM38B_000001 - PubMed: Shaheen 2012 - - Germline - - - - - DNA, RNA PCR, RT-PCR, SEQ - - OI OI-F13 IV:6 PubMed: Shaheen 2012 - - - Saudi Arabia - - - - - 1 Raymond Dalgleish
+/. - c.457_542+2del r.spl? p.? Both (homozygous) - pathogenic (recessive) g.108484817_108484904del g.105722536_105722623del NM_018112.1:c.455_542del:p.(Gly152Alafs*5) - TMEM38B_000110 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 11DG0907, 14DG0982 PubMed: Maddirevula 2018 family, 2 affected (2F) F yes - Arab - - - - 2 LOVD
+/. - c.457_542+2del r.spl? p.? Both (homozygous) - pathogenic (recessive) g.108484817_108484904del g.105722536_105722623del NM_018112.1:c.455_542del:p.(Gly152Alafs*5) - TMEM38B_000110 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 09DG00035, 09DG00036 , 10DG2179 , 11DG0676 PubMed: Maddirevula 2018 family, 4 affected (4F) F yes - Arab - - - - 4 LOVD
+/. - c.457_542+2del r.spl? p.? Both (homozygous) - pathogenic (recessive) g.108484817_108484904del g.105722536_105722623del NM_018112.1:c.455_542del:p.(Gly152Alafs*5) - TMEM38B_000110 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 12DG0244 ,12DG0245 , 12DG0246 , 12DG0830 PubMed: Maddirevula 2018 family, 4 affected (F, 3M) F;M yes - Arab - - - - 4 LOVD
+/. - c.457_542+2del r.spl? p.? Both (homozygous) - pathogenic (recessive) g.108484817_108484904del g.105722536_105722623del NM_018112.1:c.455_542del:p.(Gly152Alafs*5) - TMEM38B_000110 - PubMed: Maddirevula 2018 - - Germline - - - - - DNA SEQ, SEQ-NG - WES skeletal dysplasia 14DG2011 PubMed: Maddirevula 2018 family M yes - Arab - - - - 1 LOVD
+/. 4 c.507G>A r.(?) p.(Trp169*) Both (homozygous) - pathogenic (recessive) g.108484867G>A g.105722586G>A - - TMEM38B_000006 - PubMed: Liu 2017 - - Germline - 1/101 cases OI - - - DNA SEQ-NG - targeted 14-gene panel OI OI Fam29 PubMed: Liu 2017 analysis 101 unrelated OI families - - China - - - - - 1 Johan den Dunnen
+/+ 4 c.507G>A r.(?) p.(Trp169*) Both (homozygous) - pathogenic g.108484867G>A - - - TMEM38B_000006 - PubMed: Cabral 2016 - - Germline - - - - - DNA PCR, SEQ - - OI Proband 3 PubMed: Cabral 2016 - - yes Pakistan - - - - - 1 Raymond Dalgleish
+/+ 4 c.507G>A r.(?) p.(Trp169*) Both (homozygous) - pathogenic g.108484867G>A - - - TMEM38B_000006 - PubMed: Lv 2016 - - Germline - - - - - DNA PCR, SEQ - - OI Family 2 PubMed: Lv 2016 The proband also has an affected younger brother. - - China Han - - - - 1 Raymond Dalgleish
+/? 4 c.507G>A r.(?) p.(Trp169*) Maternal (inferred) - pathogenic g.108484867G>A - - - TMEM38B_000006 - PubMed: Essawi 2018 - - Germline - - - - - DNA arrayCGH, PCR, SEQ - - OI AN_005823 PubMed: Essawi 2018 - - - Palestine - - - - - 1 Sofie Symoens
+/+ 4 c.507G>A r.(?) p.(Trp169*) Both (homozygous) - pathogenic g.108484867G>A - - - TMEM38B_000006 - PubMed: Caparros-Martin 2016 - - Germline - - - - - DNA PCR, SEQ - - OI No. 44 PubMed: Caparros-Martin 2016 - - - Turkey - - - - - 1 Raymond Dalgleish
+/? 4 c.507G>A r.(?) p.(Trp169*) Paternal (confirmed) - pathogenic g.108484867G>A - - - TMEM38B_000006 - PubMed: Cao 2019 - - Germline - - - - - DNA SEQ - - OI P2 PubMed: Cao 2019 - - - China - - - - - 1 Raymond Dalgleish
+/. - c.507G>A r.(?) p.(Trp169Ter) Both (homozygous) - pathogenic g.108484867G>A g.105722586G>A - - TMEM38B_000006 ACMG PM2, PM5, PP2, PP3, PM6 PubMed: Tuysuz 2022 - - Germline - - - - - DNA SEQ, SEQ-NG - gene panel OI Pat109 PubMed: Tuysuz 2022 - - - Turkey - - - - - 1 Johan den Dunnen
?/. - c.719T>C r.(?) p.(Leu240Ser) Unknown - VUS g.108536204T>C - TMEM38B(NM_018112.3):c.719T>C (p.(Leu240Ser), p.L240S) - TMEM38B_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
?/. - c.719T>C r.(?) p.(Leu240Ser) Unknown - VUS g.108536204T>C - TMEM38B(NM_018112.3):c.719T>C (p.(Leu240Ser), p.L240S) - TMEM38B_000113 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.748C>T r.(?) p.(Pro250Ser) Unknown - likely benign g.108536233C>T g.105773952C>T TMEM38B(NM_018112.1):c.748C>T (p.(Pro250Ser)), TMEM38B(NM_018112.2):c.748C>T (p.P250S), TMEM38B(NM_018112.3):c.748C>T (p.P250S) - TMEM38B_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.748C>T r.(?) p.(Pro250Ser) Unknown - likely benign g.108536233C>T g.105773952C>T TMEM38B(NM_018112.1):c.748C>T (p.(Pro250Ser)), TMEM38B(NM_018112.2):c.748C>T (p.P250S), TMEM38B(NM_018112.3):c.748C>T (p.P250S) - TMEM38B_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.748C>T r.(?) p.(Pro250Ser) Unknown - likely benign g.108536233C>T - TMEM38B(NM_018112.1):c.748C>T (p.(Pro250Ser)), TMEM38B(NM_018112.2):c.748C>T (p.P250S), TMEM38B(NM_018112.3):c.748C>T (p.P250S) - TMEM38B_000103 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-/. - c.761G>C r.(?) p.(Cys254Ser) Unknown - benign g.108536246G>C g.105773965G>C TMEM38B(NM_018112.1):c.761G>C (p.(Cys254Ser)), TMEM38B(NM_018112.3):c.761G>C (p.C254S) - TMEM38B_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.761G>C r.(?) p.(Cys254Ser) Unknown - likely benign g.108536246G>C g.105773965G>C TMEM38B(NM_018112.1):c.761G>C (p.(Cys254Ser)), TMEM38B(NM_018112.3):c.761G>C (p.C254S) - TMEM38B_000104 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
-?/. - c.799G>A r.(?) p.(Val267Ile) Unknown - likely benign g.108536284G>A g.105774003G>A TMEM38B(NM_018112.3):c.799G>A (p.V267I) - TMEM38B_000105 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - - - - - - - - - - - - - - - - - - - - -
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