"Baylor Genetics"[submitter] AND "PFKM"[gene] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2677747	NM_000289.6(PFKM):c.-8-2A>G	PFKM	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 2677735	NM_000289.6(PFKM):c.86-1G>C	PFKM	Single nucleotide variant (splice acceptor variant +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 422391	NM_000289.6(PFKM):c.115C>T (p.Arg39Ter)	PFKM (R110* +5 more)	Single nucleotide variant (nonsense +2 more)	not provided +1 more	GPathogenic/Likely pathogenic
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	GLikely pathogenic
Select item 1154	NM_000289.6(PFKM):c.116G>C (p.Arg39Pro)	PFKM (R39P +5 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII	GPathogenic/Likely pathogenic
Select item 1067544	NM_000289.6(PFKM):c.159+1G>T	PFKM	Single nucleotide variant (splice donor variant +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 2677746	NM_000289.6(PFKM):c.160-1G>C	PFKM	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 189239	NM_000289.6(PFKM):c.237+1G>A	PFKM	Single nucleotide variant (splice donor variant)	not provided +1 more	GPathogenic/Likely pathogenic
Select item 2434666	NM_000289.6(PFKM):c.238-3A>G	MIR6505, PFKM	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease, type VII	GConflicting classifications of pathogenicity
Select item 1158	NM_000289.6(PFKM):c.283C>T (p.Arg95Ter)	PFKM (R95* +6 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease, type VII	GPathogenic/Likely pathogenic
Select item 1467374	NM_000289.6(PFKM):c.289G>A (p.Gly97Arg)	PFKM (G105R +6 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 844552	NM_000289.6(PFKM):c.292C>T (p.Arg98Ter)	PFKM (R169* +6 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease, type VII	GPathogenic
Select item 1072346	NM_000289.6(PFKM):c.298C>T (p.Arg100Ter)	PFKM (R100* +6 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease, type VII	GPathogenic/Likely pathogenic
Select item 2677748	NM_000289.6(PFKM):c.395G>A (p.Trp132Ter)	PFKM (W103* +6 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 2677738	NM_000289.6(PFKM):c.491_500del (p.Ser164fs)	PFKM (S114fs +6 more)	Deletion (frameshift variant +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 2677751	NM_000289.6(PFKM):c.539C>G (p.Ser180Cys)	PFKM (S130C +6 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 2677749	NM_000289.6(PFKM):c.702dup (p.Pro235fs)	PFKM (P185fs +6 more)	Duplication (frameshift variant +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 1429839	NM_000289.6(PFKM):c.736C>T (p.Arg246Ter)	PFKM (R217* +6 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease, type VII	GPathogenic/Likely pathogenic
Select item 2677740	NM_000289.6(PFKM):c.779_783delinsC (p.Ile260fs)	PFKM (I210fs +6 more)	Indel (frameshift variant +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 2677750	NM_000289.6(PFKM):c.811G>T (p.Gly271Ter)	PFKM (G221* +6 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 2677745	NM_000289.6(PFKM):c.877dup (p.Val293fs)	PFKM (V243fs +6 more)	Duplication (frameshift variant +2 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 2105712	NM_000289.6(PFKM):c.936+2T>G	PFKM	Single nucleotide variant (splice donor variant +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 554445	NM_000289.6(PFKM):c.1127G>A (p.Arg376Gln)	PFKM (R376Q +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GConflicting classifications of pathogenicity
Select item 574183	NM_000289.6(PFKM):c.1191+1G>A	PFKM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 2677744	NM_000289.6(PFKM):c.1280_1290del (p.Leu427fs)	PFKM (L377fs +8 more)	Deletion (frameshift variant +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 2677739	NM_000289.6(PFKM):c.1282dup (p.Ile428fs)	PFKM (I378fs +8 more)	Duplication (frameshift variant +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 1402514	NM_000289.6(PFKM):c.1294C>T (p.Arg432Ter)	PFKM (R390* +8 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease, type VII	GPathogenic/Likely pathogenic
Select item 2677737	NM_000289.6(PFKM):c.1341+1G>A	PFKM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 597689	NM_000289.6(PFKM):c.1413-2A>G	PFKM	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease, type VII +1 more	GPathogenic/Likely pathogenic
Select item 944644	NM_000289.6(PFKM):c.1500+1G>A	PFKM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type VII	GPathogenic/Likely pathogenic
Select item 2677752	NM_000289.6(PFKM):c.1500+2T>A	PFKM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 1068782	NM_000289.6(PFKM):c.1607del (p.Gly535_Ser536insTer)	PFKM	Deletion (nonsense +1 more)	Glycogen storage disease, type VII	GPathogenic/Likely pathogenic
Select item 2677742	NM_000289.6(PFKM):c.1620_1625delinsGGGGG (p.Ala542fs)	PFKM (A492fs +8 more)	Indel (frameshift variant +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 2671925	NM_000289.6(PFKM):c.1711G>A (p.Glu571Lys)	PFKM (E521K +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 2677743	NM_000289.6(PFKM):c.1717_1718del (p.Met573fs)	PFKM (M523fs +8 more)	Deletion (frameshift variant +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 646354	NM_000289.6(PFKM):c.1727A>T (p.Tyr576Phe)	PFKM (Y584F +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII +1 more	GUncertain significance
Select item 2196187	NM_000289.6(PFKM):c.1807C>T (p.Arg603Ter)	PFKM (R561* +8 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease, type VII	GPathogenic/Likely pathogenic
Select item 2677736	NM_000289.6(PFKM):c.1876_1880+2del	PFKM	Deletion (splice donor variant)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 1726864	NM_000289.6(PFKM):c.1905T>A (p.Tyr635Ter)	PFKM (Y585* +8 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 632192	NM_000289.6(PFKM):c.2003del (p.Pro668fs)	PFKM (P618fs +8 more)	Deletion (frameshift variant +1 more)	not provided +2 more	GPathogenic
Select item 1456055	NM_000289.6(PFKM):c.2080_2081del (p.Ser694fs)	PFKM (S694fs +8 more)	Microsatellite (frameshift variant +1 more)	Glycogen storage disease, type VII	GPathogenic/Likely pathogenic
Select item 2677741	NM_000289.6(PFKM):c.2175del (p.Glu725fs)	PFKM (E675fs +8 more)	Deletion (frameshift variant +1 more)	Glycogen storage disease, type VII	GLikely pathogenic

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Items: 42