"Mayo Clinic Laboratories, Mayo Clinic"[submitter] AND "PFKM"[gene] - ClinVar

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Items: 33

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 308942	NM_000289.5(PFKM):c.-177G>C	PFKM	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GUncertain significance
Select item 1163351	NM_000289.5(PFKM):c.-65C>A	PFKM	Single nucleotide variant (synonymous variant +1 more)	not provided	GUncertain significance
Select item 707828	NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)	PFKM (I62T +4 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII +1 more	GConflicting classifications of pathogenicity
Select item 2137355	NM_000289.6(PFKM):c.116G>A (p.Arg39Gln)	PFKM (R10Q +5 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII +1 more	GLikely pathogenic
Select item 255759	NM_000289.6(PFKM):c.246G>A (p.Thr82=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 2683193	NM_000289.6(PFKM):c.259G>A (p.Ala87Thr)	PFKM (A135T +6 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 255760	NM_000289.6(PFKM):c.299G>A (p.Arg100Gln)	PFKM (R100Q +6 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII +2 more	GBenign/Likely benign
Select item 255761	NM_000289.6(PFKM):c.306C>T (p.Ala102=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	not specified +2 more	GBenign
Select item 255763	NM_000289.6(PFKM):c.516C>T (p.Thr172=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign
Select item 883791	NM_000289.6(PFKM):c.722A>G (p.Glu241Gly)	PFKM (E212G +6 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII +2 more	GUncertain significance
Select item 255766	NM_000289.6(PFKM):c.747+24T>G	PFKM	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 308951	NM_000289.6(PFKM):c.820A>G (p.Ile274Val)	PFKM (I274V +6 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII +1 more	GUncertain significance
Select item 1705958	NM_000289.6(PFKM):c.926A>G (p.Asp309Gly)	PFKM (D259G +6 more)	Single nucleotide variant (missense variant +2 more)	not provided	GLikely pathogenic
Select item 3380102	NM_000289.6(PFKM):c.974T>C (p.Leu325Ser)	PFKM (L275S +7 more)	Single nucleotide variant (missense variant +2 more)	not provided	GUncertain significance
Select item 1694067	NM_000289.6(PFKM):c.1060G>A (p.Val354Met)	PFKM (V304M +7 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII +2 more	GUncertain significance
Select item 1694068	NM_000289.6(PFKM):c.1063-10C>G	PFKM	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3380103	NM_000289.6(PFKM):c.1105G>A (p.Glu369Lys)	PFKM (E319K +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1694069	NM_000289.6(PFKM):c.1124G>T (p.Gly375Val)	PFKM (G325V +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 2683195	NM_000289.6(PFKM):c.1286A>G (p.Gln429Arg)	PFKM (Q379R +8 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 994191	NM_000289.6(PFKM):c.1295G>A (p.Arg432Gln)	PFKM (R382Q +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII +1 more	GUncertain significance
Select item 526619	NM_000289.6(PFKM):c.1338_1339delinsAA (p.Gln447Lys)	PFKM (Q397K +8 more)	Indel (missense variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 255750	NM_000289.6(PFKM):c.1342-14G>T	PFKM	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 1163352	NM_000289.6(PFKM):c.1596del (p.Asn532fs)	PFKM (N482fs +8 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 3380104	NM_000289.6(PFKM):c.1791G>C (p.Glu597Asp)	PFKM (E547D +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 558843	NM_000289.6(PFKM):c.1867G>A (p.Gly623Ser)	PFKM (G623S +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 255754	NM_000289.6(PFKM):c.1880+27A>G	PFKM	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 2197314	NM_000289.6(PFKM):c.1918A>G (p.Ile640Val)	PFKM (I611V +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII +1 more	GUncertain significance
Select item 255756	NM_000289.6(PFKM):c.2087G>A (p.Arg696His)	PFKM (R696H +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII +2 more	GBenign/Likely benign
Select item 255757	NM_000289.6(PFKM):c.2093-14A>G	PFKM	Single nucleotide variant (intron variant)	not provided +2 more	GBenign
Select item 308958	NM_000289.6(PFKM):c.2201A>G (p.His734Arg)	PFKM (H805R +8 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GUncertain significance
Select item 1694070	NM_000289.6(PFKM):c.2314C>T (p.Arg772Trp)	PFKM (R722W +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3380105	NM_000289.6(PFKM):c.2321G>A (p.Arg774Gln)	PFKM (R724Q +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 255758	NM_000289.6(PFKM):c.2334T>G (p.Ala778=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GBenign

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Items: 33