C0268149[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 360269	NM_001014436.3(DBNL):c.*1813T>C	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease type X	GUncertain significance
Select item 360270	NM_000290.4(PGAM2):c.726C>T (p.Ala242=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +2 more	GConflicting classifications of pathogenicity
Select item 440991	NM_000290.4(PGAM2):c.707A>C (p.Glu236Ala)	DBNL, PGAM2 (E236A)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 360271	NM_001014436.3(DBNL):c.*2017A>G	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GBenign/Likely benign
Select item 911378	NM_000290.4(PGAM2):c.571C>T (p.Arg191Trp)	DBNL, PGAM2 (R191W)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GUncertain significance
Select item 911379	NM_000290.4(PGAM2):c.511A>C (p.Ile171Leu)	PGAM2, DBNL +1 more (I171L)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 911380	NM_000290.4(PGAM2):c.501G>T (p.Trp167Cys)	DBNL, LOC129998341 +1 more (W167C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +2 more	GUncertain significance
Select item 911381	NM_000290.4(PGAM2):c.480T>C (p.Ile160=)	DBNL, LOC129998341 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 360272	NM_000290.4(PGAM2):c.459C>T (p.Cys153=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +2 more	GConflicting classifications of pathogenicity
Select item 911382	NM_000290.4(PGAM2):c.455C>T (p.Thr152Ile)	DBNL, PGAM2 (T152I)	Single nucleotide variant (3 prime UTR variant +1 more)	PGAM2-related condition +2 more	GConflicting classifications of pathogenicity
Select item 360273	NM_000290.4(PGAM2):c.426C>T (p.Tyr142=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 360274	NM_000290.4(PGAM2):c.375G>A (p.Pro125=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GBenign/Likely benign
Select item 360275	NM_000290.4(PGAM2):c.366G>A (p.Pro122=)	DBNL, LOC129998342 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	PGAM2-related condition +3 more	GBenign/Likely benign
Select item 360276	NM_000290.4(PGAM2):c.341T>G (p.Ile114Ser)	DBNL, LOC129998342 +1 more (I114S)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 360277	NM_000290.4(PGAM2):c.324G>A (p.Gly108=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +1 more	GBenign
Select item 421	NM_000290.4(PGAM2):c.290G>A (p.Gly97Asp)	DBNL, PGAM2 (G97D)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 387470	NM_000290.4(PGAM2):c.288A>G (p.Thr96=)	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 908403	NM_000290.4(PGAM2):c.252T>C (p.Thr84=)	DBNL, LOC129998343 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GConflicting classifications of pathogenicity
Select item 360278	NM_000290.4(PGAM2):c.244G>T (p.Val82Leu)	DBNL, LOC129998343 +1 more (V82L)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GUncertain significance
Select item 908404	NM_000290.4(PGAM2):c.232T>C (p.Trp78Arg)	DBNL, LOC129998343 +1 more (W78R)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 193078	NM_000290.4(PGAM2):c.216C>T (p.Asp72=)	DBNL, LOC129998343 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	not specified +2 more	GBenign
Select item 360279	NM_000290.4(PGAM2):c.148A>C (p.Met50Leu)	DBNL, PGAM2 (M50L)	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease type X +1 more	GUncertain significance
Select item 529224	NM_000290.4(PGAM2):c.119G>A (p.Arg40Gln)	DBNL, PGAM2 (R40Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 909252	NM_000290.4(PGAM2):c.115A>C (p.Lys39Gln)	DBNL, PGAM2 (K39Q)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 360280	NM_001014436.3(DBNL):c.*4645dup	DBNL, PGAM2	Duplication (3 prime UTR variant +1 more)	Glycogen storage disease type X	GUncertain significance
Select item 360281	NM_001014436.3(DBNL):c.*4668T>G	DBNL, PGAM2	Single nucleotide variant (3 prime UTR variant)	Glycogen storage disease type X	GUncertain significance

ClinVar

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Items: 26