AGR2[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 19

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2530924	NM_006408.4(AGR2):c.442C>A (p.Arg148Ser)	AGR2 (R148S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 2617461	NM_006408.4(AGR2):c.403C>G (p.Leu135Val)	AGR2 (L135V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603410	NM_006408.4(AGR2):c.397C>A (p.Pro133Thr)	AGR2 (P133T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096616	NM_006408.4(AGR2):c.358C>A (p.Pro120Thr)	AGR2 (P120T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 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 3041595	NM_006408.4(AGR2):c.331-1G>A	AGR2	Single nucleotide variant (splice acceptor variant)	AGR2-related disorder	GUncertain significance
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 2371780	NM_006408.4(AGR2):c.268G>A (p.Val90Met)	AGR2 (V90M)	Single nucleotide variant (missense variant)	not specified	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 2479766	NM_006408.4(AGR2):c.243C>G (p.Cys81Trp)	AGR2 (C81W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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
Select item 3276320	NM_006408.4(AGR2):c.154C>G (p.Leu52Val)	AGR2 (L52V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3096605	NM_006408.4(AGR2):c.110G>A (p.Arg37Gln)	AGR2 (R37Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
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 2622240	NM_006408.4(AGR2):c.94G>C (p.Asp32His)	AGR2 (D32H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489772	NM_006408.4(AGR2):c.62G>T (p.Arg21Ile)	AGR2 (R21I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617534	NM_006408.4(AGR2):c.34C>T (p.Leu12Phe)	AGR2 (L12F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance