"GeneDx"[submitter] AND "PGM3"[gene] - ClinVar

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Items: 29

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58438	GRCh38/hg38 6q14.1-16.1(chr6:82569098-93753476)x1	AKIRIN2, ANKRD6 +220 more	Copy number loss	See cases	GPathogenic
Select item 1175579	NM_015599.3(PGM3):c.*2699ATTT[1]	DOP1A, PGM3	Microsatellite (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1240948	NM_015599.3(PGM3):c.*2675del	DOP1A, PGM3	Deletion (3 prime UTR variant +1 more)	not provided	GBenign
Select item 1187946	NM_015599.3(PGM3):c.*2490T>C	DOP1A, PGM3	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 568676	NM_015599.3(PGM3):c.1592C>T (p.Ala531Val)	DOP1A, PGM3 (A559V +2 more)	Single nucleotide variant (missense variant +2 more)	not provided +1 more	GUncertain significance
Select item 423202	NM_015599.3(PGM3):c.1510G>T (p.Val504Phe)	DOP1A, PGM3 (V532F +3 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 505650	NM_015599.3(PGM3):c.1474C>T (p.Arg492Ter)	PGM3, DOP1A (R520* +3 more)	Single nucleotide variant (nonsense +1 more)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 475001	NM_015599.3(PGM3):c.1464C>T (p.Tyr488=)	DOP1A, PGM3	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GBenign
Select item 681218	NM_015599.3(PGM3):c.1396G>A (p.Asp466Asn)	DOP1A, PGM3 (D425N +3 more)	Single nucleotide variant (missense variant +1 more)	Immunodeficiency 23 +1 more	GBenign
Select item 1294069	NM_015599.3(PGM3):c.1366-77G>A	DOP1A, PGM3	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1272095	NM_015599.3(PGM3):c.1366-264_1366-263insAA	DOP1A, PGM3	Insertion (non-coding transcript variant +1 more)	not provided	GBenign
Select item 1239251	NM_015599.3(PGM3):c.1365+262_1365+263dup	PGM3	Duplication (intron variant)	not provided	GBenign
Select item 672119	NM_015599.3(PGM3):c.1281A>G (p.Glu427=)	PGM3	Single nucleotide variant (synonymous variant +2 more)	Immunodeficiency 23 +1 more	GBenign
Select item 1247488	NM_015599.3(PGM3):c.1129-60G>T	PGM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 581689	NM_015599.3(PGM3):c.1085A>T (p.Glu362Val)	PGM3 (E390V +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 421723	NM_015599.3(PGM3):c.965T>C (p.Ile322Thr)	PGM3 (I350T +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 1245632	NM_015599.3(PGM3):c.946-297C>T	PGM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1267599	NM_015599.3(PGM3):c.457+214_457+216del	PGM3	Deletion (intron variant)	not provided	GBenign
Select item 1235735	NM_015599.3(PGM3):c.457+94A>T	PGM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 504123	NM_015599.3(PGM3):c.398_413del (p.Ser133fs)	PGM3 (S52fs +2 more)	Deletion (frameshift variant +1 more)	not provided +1 more	GPathogenic
Select item 1196907	NM_015599.3(PGM3):c.389+22dup	PGM3	Duplication (intron variant)	not provided	GLikely benign
Select item 1251262	NM_015599.3(PGM3):c.389+32del	PGM3	Deletion (intron variant)	not provided	GBenign
Select item 1220616	NM_015599.3(PGM3):c.205-288G>A	PGM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1683861	NM_015599.3(PGM3):c.-2-59G>A	PGM3	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 475004	NM_015599.3(PGM3):c.-2-190T>A	PGM3 (V22D)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign
Select item 1296393	NM_015599.3(PGM3):c.-2-648A>G	PGM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1222964	NC_000006.12:g.83193907G>C	PGM3, RWDD2A	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1275110	NC_000006.12:g.83193923dup	PGM3, RWDD2A	Duplication (intron variant)	not provided	GBenign
Select item 253817	GRCh37/hg19 6q14.1-14.2(chr6:83753213-84004063)x3	ME1, DOP1A +3 more	Copy number gain	See cases	GUncertain significance

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Items: 29