AGR2[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155519	GRCh38/hg38 7p22.3-15.2(chr7:43360-27196404)x3	LOC129998085, LOC129998086 +904 more	Copy number gain	See cases	GPathogenic
Select item 148758	GRCh38/hg38 7p22.3-15.3(chr7:45130-25221165)x3	RAC1, RADIL +823 more	Copy number gain	See cases	GPathogenic
Select item 147357	GRCh38/hg38 7p22.3-15.2(chr7:54185-26827634)x3	HYCC1, ICA1 +879 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CUL1, CUX1 +4737 more	Copy number loss	See cases	GPathogenic
Select item 59678	GRCh38/hg38 7p22.3-14.2(chr7:54185-37089712)x3	LOC129998210, LOC129998211 +1148 more	Copy number gain	See cases	GPathogenic
Select item 57453	GRCh38/hg38 7p22.3-14.1(chr7:54185-41875885)x3	ABCB5, ACTB +1298 more	Copy number gain	See cases	GPathogenic
Select item 154993	GRCh38/hg38 7p22.3-15.2(chr7:1698124-27207295)x3	ABCB5, ACTB +769 more	Copy number gain	See cases	GPathogenic
Select item 147466	GRCh38/hg38 7p22.1-15.2(chr7:5682209-27230311)x3	ABCB5, AGMO +560 more	Copy number gain	See cases	GPathogenic
Select item 58518	GRCh38/hg38 7p21.3-21.1(chr7:9975653-19356878)x1	AGMO, AGR2 +130 more	Copy number loss	See cases	GPathogenic
Select item 154641	GRCh38/hg38 7p21.3-15.2(chr7:10610069-25760560)x1	LOC129998072, LOC129998073 +331 more	Copy number loss	See cases	GPathogenic
Select item 147793	GRCh38/hg38 7p21.2-21.1(chr7:13966197-18321354)x1	AGMO, AGR2 +59 more	Copy number loss	See cases	GPathogenic
Select item 144255	GRCh38/hg38 7p21.2-21.1(chr7:14904894-16925094)x1	AGMO, AGR2 +23 more	Copy number loss	See cases	GPathogenic
Select item 58520	GRCh38/hg38 7p21.2-21.1(chr7:15133711-19642829)x1	AGMO, AGR2 +67 more	Copy number loss	See cases	GPathogenic
Select item 148859	GRCh38/hg38 7p21.2-15.3(chr7:15533812-24851432)x1	ABCB5, AGMO +248 more	Copy number loss	See cases	GPathogenic
Select item 148160	GRCh38/hg38 7p21.2-21.1(chr7:16121516-20607899)x1	AGR2, AGR3 +84 more	Copy number loss	See cases	GPathogenic
Select item 59679	GRCh38/hg38 7p21.2-15.2(chr7:16234212-26167278)x3	ABCB5, AGR2 +287 more	Copy number gain	See cases	GPathogenic
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
Select item 3062961	GRCh37/hg19 7p21.3-15.2(chr7:13107394-27514163)x1	ABCB5, AGMO +71 more	Copy number loss	not specified	GPathogenic
Select item 2424210	NC_000007.13:g.(?_16131320)_(17382688_?)del	AGR2, AGR3 +7 more	Deletion	not provided	GUncertain significance
Select item 1808089	GRCh37/hg19 7p21.2-21.1(chr7:15639869-16963424)x3	AGR2, AGR3 +7 more	Copy number gain	not provided	GUncertain significance
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1708194	GRCh37/hg19 7p22.3-21.1(chr7:43360-19485604)x3	ACTB, ADAP1 +98 more	Copy number gain	See cases	GPathogenic
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1527336	GRCh37/hg19 7p21.3-14.2(chr7:10745750-35305167)	ABCB5, ADCYAP1R1 +117 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527335	GRCh37/hg19 7p21.3-15.3(chr7:9358316-20982082)	ABCB5, AGMO +29 more	Copy number loss	not specified	GPathogenic
Select item 1341133	GRCh37/hg19 7p21.3-21.1(chr7:7909867-17213072)x1	AGMO, AGR2 +20 more	Copy number loss	not provided	GUncertain significance
Select item 1340515	GRCh37/hg19 7p21.1(chr7:16781824-16944995)x1	AGR2, AGR3 +1 more	Copy number loss	not provided	GUncertain significance
Select item 981203	GRCh37/hg19 7p21.2-21.1(chr7:14470668-20385165)x1	AGMO, AGR2 +19 more	Copy number loss	Saethre-Chotzen syndrome	GPathogenic
Select item 980247	GRCh37/hg19 7p21.2-21.1(chr7:16279316-18429845)x1	SOSTDC1, AGR2 +10 more	Copy number loss	not provided	GUncertain significance
Select item 814943	GRCh37/hg19 7p21.1(chr7:16838232-17753807)x3	AHR, AGR2 +1 more	Copy number gain	not provided	GLikely benign
Select item 814942	GRCh37/hg19 7p21.2-21.1(chr7:16027951-17081157)x3	AGR2, LRRC72 +6 more	Copy number gain	not provided	GLikely benign
Select item 814934	GRCh37/hg19 7p21.2-21.1(chr7:13886653-20267202)x1	MEOX2, PRPS1L1 +19 more	Copy number loss	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 687401	GRCh37/hg19 7p22.3-21.1(chr7:43376-19520619)x3	ACTB, ADAP1 +98 more	Copy number gain	not provided	GPathogenic
Select item 685465	GRCh37/hg19 7p21.1(chr7:16534711-17205201)x3	AGR2, AGR3 +4 more	Copy number gain	not provided	GUncertain significance
Select item 563419	GRCh37/hg19 7p21.2-15.3(chr7:14544155-21719929)x3	AGR3, TSPAN13 +23 more	Copy number gain	not provided	GPathogenic
Select item 563387	GRCh37/hg19 7p21.1(chr7:16515348-17451988)x3	BZW2, ANKMY2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 563304	GRCh37/hg19 7p21.1(chr7:16717618-16847653)x1	BZW2, TSPAN13 +1 more	Copy number loss	not provided	GUncertain significance
Select item 443913	GRCh37/hg19 7p21.1(chr7:16838232-17753807)x3	AGR2, AGR3 +1 more	Copy number gain	See cases	GUncertain significance
Select item 443707	GRCh37/hg19 7p21.2-21.1(chr7:14675063-18907030)x1	AGMO, AGR2 +13 more	Copy number loss	See cases	GLikely pathogenic
Select item 442857	GRCh37/hg19 7p21.3-21.1(chr7:7660104-18400293)x3	AGMO, AGR2 +25 more	Copy number gain	See cases	GUncertain significance
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AVL9, AZGP1 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	MCM7, MDFIC +896 more	Copy number gain	See cases	GPathogenic
Select item 442824	GRCh37/hg19 7p22.3-14.3(chr7:704573-29257946)x3	ABCB5, ACTB +158 more	Copy number gain	See cases	GPathogenic
Select item 442624	GRCh37/hg19 7p22.3-15.3(chr7:43360-23674928)x3	ABCB5, ACTB +121 more	Copy number gain	See cases	GPathogenic
Select item 441541	GRCh37/hg19 7p21.3-12.1(chr7:11048840-52863626)x3	RP9, SCIN +196 more	Copy number gain	See cases	GPathogenic
Select item 402244	TMEM106B-BRAF fusion	AASS, ABCA13 +678 more	Deletion	Pleomorphic xanthoastrocytoma	GPathogenic
Select item 395204	GRCh37/hg19 7p21.3-14.2(chr7:11562624-36395416)x3	ABCB5, ADCYAP1R1 +119 more	Copy number gain	See cases	GPathogenic

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Items: 66