ClinVar for MedGen (Select 862977) - ClinVar - NCBI

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Items: 12

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3064182	NM_006439.5(MAB21L2):c.840C>G (p.Tyr280Ter)	LRBA, MAB21L2 (Y280*)	Single nucleotide variant (nonsense +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GPathogenic
Select item 1299534	NM_006439.5(MAB21L2):c.881C>A (p.Ser294Ter)	LRBA, MAB21L2 (S294*)	Single nucleotide variant (nonsense +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GPathogenic
Select item 1034276	NM_006439.5(MAB21L2):c.7G>A (p.Ala3Thr)	LRBA, MAB21L2 (A3T)	Single nucleotide variant (missense variant +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GUncertain significance
Select item 988081	NM_006439.5(MAB21L2):c.457G>A (p.Ala153Thr)	LRBA, MAB21L2 (A153T)	Single nucleotide variant (missense variant +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GUncertain significance
Select item 976482	NM_006439.5(MAB21L2):c.287_295del (p.Gly96_Ala98del)	LRBA, MAB21L2	Deletion (inframe_deletion +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GUncertain significance
Select item 931116	NM_006439.5(MAB21L2):c.343G>T (p.Glu115Ter)	LRBA, MAB21L2 (E115*)	Single nucleotide variant (nonsense +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GUncertain significance
Select item 929565	NM_006439.5(MAB21L2):c.1A>C (p.Met1Leu)	MAB21L2, LRBA (M1L)	Single nucleotide variant (missense variant +2 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GLikely pathogenic
Select item 427785	NM_006439.5(MAB21L2):c.151C>G (p.Arg51Gly)	MAB21L2, LRBA (R51G)	Single nucleotide variant (missense variant +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GPathogenic
Select item 139623	NM_006439.5(MAB21L2):c.740G>A (p.Arg247Gln)	LRBA, MAB21L2 (R247Q)	Single nucleotide variant (missense variant +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GLikely pathogenic
Select item 139622	NM_006439.5(MAB21L2):c.145G>A (p.Glu49Lys)	LRBA, MAB21L2 (E49K)	Single nucleotide variant (missense variant +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GLikely pathogenic
Select item 139621	NM_006439.5(MAB21L2):c.151C>T (p.Arg51Cys)	LRBA, MAB21L2 (R51C)	Single nucleotide variant (missense variant +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GLikely pathogenic
Select item 139620	NM_006439.5(MAB21L2):c.152G>A (p.Arg51His)	LRBA, MAB21L2 (R51H)	Single nucleotide variant (missense variant +1 more)	Colobomatous microphthalmia-rhizomelic dysplasia syndrome	GLikely pathogenic