ClinVar for MedGen (Select 7049) - ClinVar

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Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3376313	NM_001099856.6(IKBKG):c.104G>C (p.Ser35Thr)	G6PD, IKBKG +1 more (S35T)	Single nucleotide variant (missense variant +2 more)	Incontinentia pigmenti syndrome	GUncertain significance
Select item 3242266	NM_001099857.5(IKBKG):c.373del (p.Val125fs)	IKBKG (V125fs +1 more)	Deletion (frameshift variant +1 more)	Incontinentia pigmenti syndrome	GPathogenic
Select item 2579743	NM_001099857.5(IKBKG):c.363_367del (p.Leu122fs)	IKBKG (L122fs +1 more)	Deletion (frameshift variant +1 more)	Incontinentia pigmenti syndrome	GLikely pathogenic
Select item 1684654	Single allele	HCFC1-AS1, IDH3G +200 more	Deletion	Ectodermal dysplasia and immunodeficiency 1 +5 more	GPathogenic
Select item 1527844	NM_001099857.5(IKBKG):c.760C>G (p.Arg254Gly)	IKBKG (R202G +4 more)	Single nucleotide variant (missense variant +2 more)	Autoinflammatory disease, X-linked +3 more	GUncertain significance
Select item 1325735	NC_000023.10:g.(153784642_153786697)_(153792726_153814360)del	CTAG1A, IKBKG	Deletion	Incontinentia pigmenti syndrome	GPathogenic
Select item 974981	NM_001099857.5(IKBKG):c.706C>T (p.Gln236Ter)	IKBKG (Q184* +4 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 932047	NM_001099857.5(IKBKG):c.358C>T (p.Gln120Ter)	IKBKG (Q188* +1 more)	Single nucleotide variant (nonsense +1 more)	Incontinentia pigmenti syndrome	GPathogenic
Select item 916682	NM_001099857.5(IKBKG):c.1117+1G>A	IKBKG	Single nucleotide variant (splice donor variant)	Incontinentia pigmenti syndrome +1 more	GPathogenic
Select item 916678	IKBKG, 2-BP DEL, 1182TT	IKBKG	Deletion	Incontinentia pigmenti syndrome +1 more	GPathogenic
Select item 625962	NM_001321396.3(IKBKG):c.-16+3G>A	G6PD, IKBKG +1 more (G43R)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 33 +4 more	GUncertain significance
Select item 619016	NM_001099857.5(IKBKG):c.518+866C>T	IKBKG	Single nucleotide variant (intron variant)	IMMUNODEFICIENCY 33, MALE-RESTRICTED +1 more	GPathogenic
Select item 503711	NM_001099857.5(IKBKG):c.519-3_519dup	IKBKG	Duplication (splice acceptor variant +1 more)	Incontinentia pigmenti syndrome +1 more	GPathogenic
Select item 449462	NM_001099857.5(IKBKG):c.1117+5G>C	IKBKG	Single nucleotide variant (intron variant)	not provided	GLikely pathogenic
Select item 372387	NM_001099857.5(IKBKG):c.1167dup (p.Glu390fs)	IKBKG (E390fs +5 more)	Duplication (frameshift variant +1 more)	Incontinentia pigmenti syndrome +3 more	GPathogenic
Select item 11458	NM_001099857.5(IKBKG):c.1166_1178dup (p.Asp394fs)	IKBKG (D295fs +5 more)	Duplication (frameshift variant +1 more)	Incontinentia pigmenti syndrome	GPathogenic
Select item 11457	NM_001099857.5(IKBKG):c.1217A>T (p.Asp406Val)	IKBKG (D406V +5 more)	Single nucleotide variant (missense variant +1 more)	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED +1 more	GPathogenic
Select item 11452	NM_001099857.5(IKBKG):c.184C>T (p.Arg62Ter)	IKBKG (R130* +1 more)	Single nucleotide variant (nonsense +1 more)	not provided	GPathogenic
Select item 11451	NM_001099857.5(IKBKG):c.120_129dup (p.Glu44fs)	IKBKG (E112fs +1 more)	Duplication (frameshift variant +1 more)	Incontinentia pigmenti syndrome	GPathogenic
Select item 11450	NM_001099857.5(IKBKG):c.1259A>G (p.Ter420Trp)	IKBKG	Single nucleotide variant (stop lost +1 more)	ECTODERMAL DYSPLASIA AND IMMUNODEFICIENCY 1, MALE-RESTRICTED +1 more	GPathogenic
Select item 11449	NM_001099857.5(IKBKG):c.1219A>G (p.Met407Val)	IKBKG (M407V +5 more)	Single nucleotide variant (missense variant +1 more)	not provided	GConflicting classifications of pathogenicity
Select item 11448	NM_001099857.5(IKBKG):c.1110dup (p.Ala371fs)	IKBKG (A439fs +5 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 11447	NC_000023.11:g.(154556377_154558531)_(154565046_?)del	IKBKG, LOC107988021	Deletion	Incontinentia pigmenti syndrome	GPathogenic

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Items: 23