Related gene-specific medical variations for Gene (Select 5373) - ClinVar

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Links from Gene

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3068193	NM_000303.3(PMM2):c.703G>A (p.Glu235Lys)	PMM2 (E235K)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 2677902	NM_000303.3(PMM2):c.179-25A>G	PMM2	Single nucleotide variant (intron variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 2677901	NM_000303.3(PMM2):c.365del (p.Phe122fs)	PMM2 (F122fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 2677900	NM_000303.3(PMM2):c.328_329insGGGAA (p.Ile110fs)	PMM2 (I110fs)	Insertion (frameshift variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 2677898	NM_000303.3(PMM2):c.61dup (p.Arg21fs)	PMM2 (R21fs)	Duplication (frameshift variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 2677897	NM_000303.3(PMM2):c.687C>A (p.Tyr229Ter)	PMM2 (Y229*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 2677895	NM_000303.3(PMM2):c.28del (p.Leu10fs)	PMM2 (L10fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 2677892	NM_000303.3(PMM2):c.173del (p.Asn58fs)	PMM2 (N58fs)	Deletion (frameshift variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 2677891	NM_000303.3(PMM2):c.256-1G>A	PMM2	Single nucleotide variant (splice acceptor variant)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 2677890	NM_000303.3(PMM2):c.192C>G (p.Tyr64Ter)	PMM2 (Y64*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 2677889	NM_000303.3(PMM2):c.79G>T (p.Glu27Ter)	PMM2 (E27*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 2677888	NM_000303.3(PMM2):c.523G>T (p.Gly175Ter)	PMM2 (G175*)	Single nucleotide variant (nonsense)	PMM2-congenital disorder of glycosylation	GLikely pathogenic
Select item 2442175	NM_000303.3(PMM2):c.366C>G (p.Phe122Leu)	PMM2 (F122L)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 2435093	NM_000303.3(PMM2):c.359T>A (p.Ile120Asn)	PMM2 (I120N)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 2435092	NM_000303.3(PMM2):c.348-2_348-1insAA	PMM2	Insertion (splice acceptor variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 2435091	NM_000303.3(PMM2):c.261T>G (p.Ile87Met)	PMM2 (I87M)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 1809682	NM_000303.3(PMM2):c.*91C>T	PMM2	Single nucleotide variant (3 prime UTR variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 1526495	GRCh37/hg19 16p13.2(chr16:8899460-8914846)	PMM2	Copy number loss	not specified	GUncertain significance
Select item 885065	NM_000303.3(PMM2):c.*695C>T	PMM2	Single nucleotide variant (3 prime UTR variant)	PMM2-congenital disorder of glycosylation	GUncertain significance
Select item 687259	GRCh37/hg19 16p13.2(chr16:8903059-8933005)x1	PMM2	Copy number loss	not provided	GUncertain significance
Select item 21144	NM_000303.3(PMM2):c.653A>T (p.His218Leu)	PMM2 (H218L)	Single nucleotide variant (missense variant)	PMM2-congenital disorder of glycosylation	Gnot provided
Select item 7726	NC_000016.10:g.8852245_8823657delinsAluYb8	PMM2	Deletion	PMM2-congenital disorder of glycosylation	GPathogenic

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Links from Gene

Items: 22