ClinVar for MedGen (Select 1824079) - ClinVar - NCBI

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Items: 7

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3341362	NM_006408.4(AGR2):c.94del (p.Asp32fs)	AGR2 (D32fs)	Deletion (frameshift variant)	Respiratory infections, recurrent, and failure to thrive with or without diarrhea	GUncertain significance
Select item 3065275	NM_006408.4(AGR2):c.332A>G (p.Tyr111Cys)	AGR2 (Y111C)	Single nucleotide variant (missense variant)	Respiratory infections, recurrent, and failure to thrive with or without diarrhea	GUncertain significance
Select item 2664703	NM_006408.4(AGR2):c.256+2T>C	AGR2	Single nucleotide variant (splice donor variant)	Respiratory infections, recurrent, and failure to thrive with or without diarrhea	GLikely pathogenic
Select item 2443888	NM_006408.4(AGR2):c.428G>A (p.Gly143Glu)	AGR2 (G143E)	Single nucleotide variant (missense variant)	Respiratory infections, recurrent, and failure to thrive with or without diarrhea	GPathogenic
Select item 2443887	NM_006408.4(AGR2):c.330+1G>T	AGR2	Single nucleotide variant (splice donor variant)	Respiratory infections, recurrent, and failure to thrive with or without diarrhea	GPathogenic
Select item 2443886	NM_006408.4(AGR2):c.349C>T (p.His117Tyr)	AGR2 (H117Y)	Single nucleotide variant (missense variant)	Respiratory infections, recurrent, and failure to thrive with or without diarrhea	GLikely pathogenic
Select item 2443885	NM_006408.4(AGR2):c.211C>A (p.Pro71Thr)	AGR2 (P71T)	Single nucleotide variant (missense variant)	Respiratory infections, recurrent, and failure to thrive with or without diarrhea	GLikely pathogenic