Table 2. Open in new tab TNGS of Genes...

Gene

Inheritance

dbSNP

CCDS Position

Protein position

Frequency (%)

Consequence

MVK

HMZ

rs28934897

c.1129G>A

p.(Val377Ile)

0.16

Pathogenic⁶,¹⁰

MGAM

HTZ

rs544377960

c.3179A>G

p.(Asn1060Ser)

0.032

Polymorphism

CD40LG

HTZ

rs11575982

c.542G>A

p.(Arg181Gln)

0.17

Polymorphism

PLCG2

HTZ

rs201490178

c.1258G>A

p.(Ala420Thr)

0.32

Polymorphism

MVK

ComHTZ

rs104895308

c.976G>A

p.(Gly326Arg)

Likely pathogenic⁷,¹⁰

MVK

ComHTZ

rs28934897

c.1129G>A

p.(Val377Ile)

0.16

Pathogenic¹⁰

LCT

HTZ

rs141337403

c.487G>A

p.(Gly163Arg)

0.0028

Polymorphism

MVK

ComHTZ

rs778082175

c.473_476delTGAC

p.(Thr159Cysfs*9)

0.0004

Pathogenic⁸,¹⁰

MVK

ComHTZ

c.1169A>C

p.(Gln390Pro)

Likely pathogenic⁸,¹⁰

APOB

HTZ

rs751368655

c.5722G>A

p.(Asp1908Asn)

0.0085

Pathogenic

MVK

ComHTZ

rs28934897

c.1129G>A

p.(Val377Ile)

0.16

Pathogenic⁶,¹⁰

MVK

ComHTZ

c.634G>A c.655G>T

p.(Gly212Arg)^† p.(Gly219Trp)^†

Both Likely pathogenic⁹,¹⁰

MVK

ComHTZ

rs104895382

c.346T>C

p.(Tyr116His)

0.042

Likely pathogenic¹⁰

MVK

ComHTZ

rs28934897

c.1129G>A

p.(Val377Ile)

0.16

Pathogenic⁶,¹⁰

DOCK2

HTZ

c.5C>A

p.(Ala2Asp)

Polymorphism

MGAM

HTZ

rs61733478

c.73A>G

p.(Ile25Val)

0.42

Polymorphism

MVK

ComHTZ

c.401G>A

p.Trp134*

Pathogenic¹⁰

MVK

ComHTZ

rs28934897

c.1129G>A

p.(Val377Ile)

0.16

Pathogenic⁶,¹⁰

SLC2A5

HTZ

rs202060523

c.611C>T

p.(Ala204Val)

0.035

Polymorphism

APOB

HTZ

rs72653077

c.3427C>T

p.(Pro1143Ser)

0.17

Pathogenic

MVK

ComHTZ

rs28934897

c.1129G>A

p.(Val377Ile)

0.16

Pathogenic⁶,¹⁰

MVK

ComHTZ

c.726dup

p.(Thr243Tyrfs*34)

Pathogenic¹⁰

SLC2A2

HTZ

c.823G>A

p.(Glu275Lys)

Pathogenic

MVK

ComHTZ

rs104895304

c.803T>C

p.(Ile268Thr)

0.016

Pathogenic⁶,¹⁰

MVK

ComHTZ

rs104895308

c.976G>A

p.(Gly326Arg)

Likely pathogenic⁸,¹⁰

MVK

ComHTZ

rs104895304

c.803T>C

p.(Ile268Thr)

0.016

Pathogenic⁸,¹⁰

MVK

ComHTZ

c.1016G>C

p.(Cys339Ser)

Likely pathogenic¹⁰

P10

MVK

ComHTZ

c.1004G>A

p.(Gly335Asp)

Likely pathogenic⁹,¹⁰

MVK

ComHTZ

rs28934897

c.1129G>A

p.(Val377Ile)

0.16

Pathogenic⁶,¹⁰

LCT

HTZ

rs374619829

c.413C>G

p.(Ala138Gly)

0.00071

Polymorphism

Table 2.

Open in new tab

TNGS of Genes Responsible for Monogenic VEO-IBD (7 patients)

	Gene	Inheritance	dbSNP	CCDS Position	Protein position	Frequency (%)	Consequence
P1	*MVK*	HMZ	rs28934897	c.1129G>A	p.(Val377Ile)	0.16	Pathogenic⁶,¹⁰
	MGAM	HTZ	rs544377960	c.3179A>G	p.(Asn1060Ser)	0.032	Polymorphism
	CD40LG	HTZ	rs11575982	c.542G>A	p.(Arg181Gln)	0.17	Polymorphism
	PLCG2	HTZ	rs201490178	c.1258G>A	p.(Ala420Thr)	0.32	Polymorphism
P2	*MVK*	ComHTZ	rs104895308	c.976G>A	p.(Gly326Arg)	-	Likely pathogenic⁷,¹⁰
	*MVK*	ComHTZ	rs28934897	c.1129G>A	p.(Val377Ile)	0.16	Pathogenic¹⁰
	LCT	HTZ	rs141337403	c.487G>A	p.(Gly163Arg)	0.0028	Polymorphism
P3	*MVK*	ComHTZ	rs778082175	c.473_476delTGAC	*p.(Thr159Cysfs9)**	0.0004	Pathogenic⁸,¹⁰
	*MVK*	ComHTZ	-	c.1169A>C	p.(Gln390Pro)	-	Likely pathogenic⁸,¹⁰
	APOB	HTZ	rs751368655	c.5722G>A	p.(Asp1908Asn)	0.0085	Pathogenic
P4	*MVK*	ComHTZ	rs28934897	c.1129G>A	p.(Val377Ile)	0.16	Pathogenic⁶,¹⁰
	*MVK*	ComHTZ	-	c.634G>A c.655G>T	p.(Gly212Arg)^† p.(Gly219Trp)^†	-	Both Likely pathogenic⁹,¹⁰
	#	-	-	-	-	-	-
P5	*MVK*	ComHTZ	rs104895382	c.346T>C	p.(Tyr116His)	0.042	Likely pathogenic¹⁰
	*MVK*	ComHTZ	rs28934897	c.1129G>A	p.(Val377Ile)	0.16	Pathogenic⁶,¹⁰
	DOCK2	HTZ	-	c.5C>A	p.(Ala2Asp)	-	Polymorphism
	MGAM	HTZ	rs61733478	c.73A>G	p.(Ile25Val)	0.42	Polymorphism
P6	*MVK*	ComHTZ	-	c.401G>A	p.Trp134*	-	Pathogenic¹⁰
	*MVK*	ComHTZ	rs28934897	c.1129G>A	p.(Val377Ile)	0.16	Pathogenic⁶,¹⁰
	SLC2A5	HTZ	rs202060523	c.611C>T	p.(Ala204Val)	0.035	Polymorphism
	APOB	HTZ	rs72653077	c.3427C>T	p.(Pro1143Ser)	0.17	Pathogenic
P7	*MVK*	ComHTZ	rs28934897	c.1129G>A	p.(Val377Ile)	0.16	Pathogenic⁶,¹⁰
	*MVK*	ComHTZ	-	c.726dup	*p.(Thr243Tyrfs34)**	-	Pathogenic¹⁰
	SLC2A2	HTZ	-	c.823G>A	p.(Glu275Lys)	-	Pathogenic
P8	*MVK*	ComHTZ	rs104895304	c.803T>C	p.(Ile268Thr)	0.016	Pathogenic⁶,¹⁰
	*MVK*	ComHTZ	rs104895308	c.976G>A	p.(Gly326Arg)		Likely pathogenic⁸,¹⁰
	#	-		-	-	-	-
P9	*MVK*	ComHTZ	rs104895304	c.803T>C	p.(Ile268Thr)	0.016	Pathogenic⁸,¹⁰
	*MVK*	ComHTZ	-	c.1016G>C	p.(Cys339Ser)	-	Likely pathogenic¹⁰
	#	-	-	-	-	-	-
P10	*MVK*	ComHTZ	-	c.1004G>A	p.(Gly335Asp)	-	Likely pathogenic⁹,¹⁰
	*MVK*	ComHTZ	rs28934897	c.1129G>A	p.(Val377Ile)	0.16	Pathogenic⁶,¹⁰
	LCT	HTZ	rs374619829	c.413C>G	p.(Ala138Gly)	0.00071	Polymorphism

	Gene	Inheritance	dbSNP	CCDS Position	Protein position	Frequency (%)	Consequence
P1	*MVK*	HMZ	rs28934897	c.1129G>A	p.(Val377Ile)	0.16	Pathogenic⁶,¹⁰
	MGAM	HTZ	rs544377960	c.3179A>G	p.(Asn1060Ser)	0.032	Polymorphism
	CD40LG	HTZ	rs11575982	c.542G>A	p.(Arg181Gln)	0.17	Polymorphism
	PLCG2	HTZ	rs201490178	c.1258G>A	p.(Ala420Thr)	0.32	Polymorphism
P2	*MVK*	ComHTZ	rs104895308	c.976G>A	p.(Gly326Arg)	-	Likely pathogenic⁷,¹⁰
	*MVK*	ComHTZ	rs28934897	c.1129G>A	p.(Val377Ile)	0.16	Pathogenic¹⁰
	LCT	HTZ	rs141337403	c.487G>A	p.(Gly163Arg)	0.0028	Polymorphism
P3	*MVK*	ComHTZ	rs778082175	c.473_476delTGAC	*p.(Thr159Cysfs9)**	0.0004	Pathogenic⁸,¹⁰
	*MVK*	ComHTZ	-	c.1169A>C	p.(Gln390Pro)	-	Likely pathogenic⁸,¹⁰
	APOB	HTZ	rs751368655	c.5722G>A	p.(Asp1908Asn)	0.0085	Pathogenic
P4	*MVK*	ComHTZ	rs28934897	c.1129G>A	p.(Val377Ile)	0.16	Pathogenic⁶,¹⁰
	*MVK*	ComHTZ	-	c.634G>A c.655G>T	p.(Gly212Arg)^† p.(Gly219Trp)^†	-	Both Likely pathogenic⁹,¹⁰
	#	-	-	-	-	-	-
P5	*MVK*	ComHTZ	rs104895382	c.346T>C	p.(Tyr116His)	0.042	Likely pathogenic¹⁰
	*MVK*	ComHTZ	rs28934897	c.1129G>A	p.(Val377Ile)	0.16	Pathogenic⁶,¹⁰
	DOCK2	HTZ	-	c.5C>A	p.(Ala2Asp)	-	Polymorphism
	MGAM	HTZ	rs61733478	c.73A>G	p.(Ile25Val)	0.42	Polymorphism
P6	*MVK*	ComHTZ	-	c.401G>A	p.Trp134*	-	Pathogenic¹⁰
	*MVK*	ComHTZ	rs28934897	c.1129G>A	p.(Val377Ile)	0.16	Pathogenic⁶,¹⁰
	SLC2A5	HTZ	rs202060523	c.611C>T	p.(Ala204Val)	0.035	Polymorphism
	APOB	HTZ	rs72653077	c.3427C>T	p.(Pro1143Ser)	0.17	Pathogenic
P7	*MVK*	ComHTZ	rs28934897	c.1129G>A	p.(Val377Ile)	0.16	Pathogenic⁶,¹⁰
	*MVK*	ComHTZ	-	c.726dup	*p.(Thr243Tyrfs34)**	-	Pathogenic¹⁰
	SLC2A2	HTZ	-	c.823G>A	p.(Glu275Lys)	-	Pathogenic
P8	*MVK*	ComHTZ	rs104895304	c.803T>C	p.(Ile268Thr)	0.016	Pathogenic⁶,¹⁰
	*MVK*	ComHTZ	rs104895308	c.976G>A	p.(Gly326Arg)		Likely pathogenic⁸,¹⁰
	#	-		-	-	-	-
P9	*MVK*	ComHTZ	rs104895304	c.803T>C	p.(Ile268Thr)	0.016	Pathogenic⁸,¹⁰
	*MVK*	ComHTZ	-	c.1016G>C	p.(Cys339Ser)	-	Likely pathogenic¹⁰
	#	-	-	-	-	-	-
P10	*MVK*	ComHTZ	-	c.1004G>A	p.(Gly335Asp)	-	Likely pathogenic⁹,¹⁰
	*MVK*	ComHTZ	rs28934897	c.1129G>A	p.(Val377Ile)	0.16	Pathogenic⁶,¹⁰
	LCT	HTZ	rs374619829	c.413C>G	p.(Ala138Gly)	0.00071	Polymorphism

#TNGS ND, targeted next generation sequencing not done; CCDS: consensus coding sequence; dbSNP: Single Nucleotide Polymorphism Database; Frequency from gnomAD database; HTZ: heterozygous, HMZ: homozygous; †both variants carried from the healthy mother, hence on the same allele

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