C0017926[trait identifier] AND "Revvity Omics, Revvity"[submitter] - ClinVar

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Items: 28

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 707828	NM_000289.6(PFKM):c.41T>C (p.Ile14Thr)	PFKM (I62T +4 more)	Single nucleotide variant (missense variant +2 more)	PFKM-related disorder +1 more	GConflicting classifications of pathogenicity
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 2072792	NM_000289.6(PFKM):c.86G>A (p.Gly29Asp)	PFKM (G100D +4 more)	Single nucleotide variant (missense variant +3 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 838536	NM_000289.6(PFKM):c.140G>A (p.Arg47His)	PFKM (R18H +5 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII	GUncertain significance
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 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 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 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 308951	NM_000289.6(PFKM):c.820A>G (p.Ile274Val)	PFKM (I274V +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	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 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 2056636	NM_000289.6(PFKM):c.1199C>T (p.Ser400Leu)	PFKM (S369L +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 2689683	NM_000289.6(PFKM):c.1487T>C (p.Ile496Thr)	PFKM (I446T +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
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 2154352	NM_000289.6(PFKM):c.1618G>A (p.Val540Ile)	PFKM (V498I +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
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 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	GUncertain significance
Select item 1330385	NM_000289.6(PFKM):c.1925A>G (p.Asn642Ser)	PFKM (N592S +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII +1 more	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 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 2052085	NM_000289.6(PFKM):c.2041G>A (p.Ala681Thr)	PFKM (A650T +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 2066447	NM_000289.6(PFKM):c.2053A>G (p.Asn685Asp)	PFKM (N643D +8 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 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 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 2157653	NM_000289.6(PFKM):c.2312C>T (p.Thr771Ile)	PFKM (T729I +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance

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Items: 28