"CeGaT Center for Human Genetics Tuebingen"[submitter] AND "PFKM"[gene - ClinVar - NCBI

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Items: 17

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2578680	NM_001166686.2(PFKM):c.206-4289C>T	PFKM	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2642927	NM_001166686.2(PFKM):c.206-4206A>G	PFKM	Single nucleotide variant (synonymous variant +3 more)	not provided	GLikely benign
Select item 806876	NM_000289.6(PFKM):c.139C>T (p.Arg47Cys)	PFKM (R47C +5 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII +1 more	GUncertain significance
Select item 1013351	NM_000289.6(PFKM):c.564T>C (p.Ile188=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII +1 more	GLikely benign
Select item 1335101	NM_000289.6(PFKM):c.606A>G (p.Thr202=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII +1 more	GLikely benign
Select item 1593708	NM_000289.6(PFKM):c.732T>C (p.Cys244=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	not provided +1 more	GLikely benign
Select item 3067697	NM_000289.6(PFKM):c.1035C>A (p.Arg345=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	not provided	GLikely benign
Select item 1675490	NM_000289.6(PFKM):c.1262C>T (p.Ser421Phe)	PFKM (S371F +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 526619	NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys)	PFKM (Q397K +8 more)	Indel (missense variant +1 more)	Glycogen storage disease, type VII +1 more	GConflicting classifications of pathogenicity
Select item 308955	NM_000289.6(PFKM):c.1338G>A (p.Gly446=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII +1 more	GBenign/Likely benign
Select item 618271	NM_000289.6(PFKM):c.1339C>A (p.Gln447Lys)	PFKM (Q447K +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII +2 more	GLikely benign
Select item 1157556	NM_000289.6(PFKM):c.1374C>G (p.Gly458=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII +1 more	GLikely benign
Select item 374699	NM_000289.6(PFKM):c.1993-7_1993-4del	PFKM	Deletion (intron variant)	not provided	GUncertain significance
Select item 806877	NM_000289.6(PFKM):c.2078_2081dup (p.Ser694fs)	PFKM (S652fs +8 more)	Microsatellite (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 255756	NM_000289.6(PFKM):c.2087G>A (p.Arg696His)	PFKM (R696H +8 more)	Single nucleotide variant (missense variant +1 more)	not specified +2 more	GBenign/Likely benign
Select item 493115	NM_000289.6(PFKM):c.2194T>G (p.Phe732Val)	PFKM (F732V +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1130707	NM_000289.6(PFKM):c.2292T>C (p.His764=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII +1 more	GLikely benign