Related gene-specific medical variations for Gene (Select 5213) - ClinVar

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Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244230	NC_000012.11:g.(?_48535509)_(48538245_?)del	PFKM	Deletion	Glycogen storage disease, type VII	GPathogenic
Select item 3240112	NM_000289.6(PFKM):c.420del (p.Ala142fs)	PFKM (A113fs +6 more)	Deletion (frameshift variant +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 3240111	NM_000289.6(PFKM):c.1459_1463del (p.Thr486_Lys487insTer)	PFKM	Deletion (nonsense +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 3240109	NM_000289.6(PFKM):c.166C>T (p.Gln56Ter)	PFKM (Q104* +6 more)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 3240108	NM_000289.6(PFKM):c.85+1G>A	PFKM	Single nucleotide variant (splice donor variant)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 3240107	NM_000289.6(PFKM):c.1614dup (p.Ser539fs)	PFKM (S489fs +8 more)	Duplication (frameshift variant +1 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 3240106	NM_000289.6(PFKM):c.1042del (p.Leu348fs)	PFKM (L298fs +7 more)	Deletion (frameshift variant +2 more)	Glycogen storage disease, type VII	GLikely pathogenic
Select item 3019294	NM_000289.6(PFKM):c.238-20G>A	MIR6505, PFKM	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2887773	NM_000289.6(PFKM):c.238-13A>G	MIR6505, PFKM	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2729629	NM_000289.6(PFKM):c.238-12C>T	MIR6505, PFKM	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 2689684	NM_000289.6(PFKM):c.20A>G (p.His7Arg)	PFKM (H110R +4 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 2689682	NM_000289.6(PFKM):c.619G>C (p.Val207Leu)	PFKM (V157L +6 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 2689681	NM_000289.6(PFKM):c.2202T>G (p.His734Gln)	PFKM (H684Q +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 2689680	NM_000289.6(PFKM):c.1934C>T (p.Ser645Phe)	PFKM (S595F +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 2689679	NM_000289.6(PFKM):c.452C>T (p.Thr151Met)	PFKM (T101M +6 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 2689678	NM_000289.6(PFKM):c.74G>T (p.Gly25Val)	PFKM (G128V +4 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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
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 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 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 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 2677736	NM_000289.6(PFKM):c.1876_1880+2del	PFKM	Deletion (splice donor variant)	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 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 2434670	NM_000289.6(PFKM):c.962T>C (p.Val321Ala)	PFKM (V271A +7 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 2434669	NM_000289.6(PFKM):c.2120C>T (p.Ser707Leu)	PFKM (S657L +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 2434668	NM_000289.6(PFKM):c.558G>A (p.Met186Ile)	PFKM (M136I +6 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 2434667	NM_000289.6(PFKM):c.2093-33G>C	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GUncertain significance
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	GLikely pathogenic
Select item 2434665	NM_000289.6(PFKM):c.1654-54_1654-46del	PFKM	Deletion (intron variant)	Glycogen storage disease, type VII	GUncertain significance
Select item 2428748	NC_000012.12:g.48107385C>T	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 1676355	NM_000289.6(PFKM):c.936+46C>T	PFKM	Single nucleotide variant	not provided	GLikely benign
Select item 1589650	NM_000289.6(PFKM):c.238-9C>T	MIR6505, PFKM	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 1540199	NM_000289.6(PFKM):c.238-17T>A	MIR6505, PFKM	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease, type VII	GLikely benign
Select item 1331075	NM_000289.6(PFKM):c.1500+29C>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII +1 more	GLikely benign
Select item 1330955	NC_000012.12:g.48107374A>G	PFKM (M1V)	Single nucleotide variant (missense variant +3 more)	Glycogen storage disease, type VII	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	GUncertain significance
Select item 993913	NM_000289.6(PFKM):c.2126G>A (p.Cys709Tyr)	PFKM (C659Y +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 993414	NM_000289.6(PFKM):c.2219A>G (p.Gln740Arg)	PFKM (Q690R +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 989548	NM_000289.6(PFKM):c.2274C>G (p.Asp758Glu)	PFKM (D708E +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 989546	NM_000289.6(PFKM):c.846G>A (p.Leu282=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 989544	NM_000289.6(PFKM):c.71G>C (p.Gly24Ala)	PFKM (G127A +4 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 374699	NM_000289.6(PFKM):c.1993-7_1993-4del	PFKM	Deletion (intron variant)	not provided	GUncertain significance
Select item 255748	NM_000289.6(PFKM):c.1127+45G>A	PFKM	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 255747	NM_000289.6(PFKM):c.1127+43G>C	PFKM	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 91909	NM_000289.6(PFKM):c.2137A>G (p.Met713Val)	PFKM (M784V +8 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Links from Gene

Items: 57