"ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories - ClinVar

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Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1330955	NM_001354741.2(PFKM):c.-81+1955A>G	PFKM (M1V)	Single nucleotide variant (missense variant +3 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 441153	NM_001166686.2(PFKM):c.5A>T (p.His2Leu)	PFKM (H2L)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII +1 more	GBenign
Select item 2428748	NM_001354741.2(PFKM):c.-81+1966C>T	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
Select item 1312050	NM_000289.6(PFKM):c.52A>G (p.Ile18Val)	PFKM (I121V +4 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII +1 more	GUncertain significance
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 2012395	NM_000289.6(PFKM):c.150T>C (p.Phe50=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GLikely benign
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 255759	NM_000289.6(PFKM):c.246G>A (p.Thr82=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 255760	NM_000289.6(PFKM):c.299G>A (p.Arg100Gln)	PFKM (R100Q +6 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 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 +1 more	GBenign
Select item 682120	NM_000289.6(PFKM):c.459C>T (p.Ser153=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	not provided +2 more	GLikely benign
Select item 255763	NM_000289.6(PFKM):c.516C>T (p.Thr172=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GBenign
Select item 2921233	NM_000289.6(PFKM):c.550C>T (p.Arg184Trp)	PFKM (R155W +6 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 506772	NM_000289.6(PFKM):c.702A>T (p.Pro234=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII +1 more	GBenign/Likely benign
Select item 1330983	NM_000289.6(PFKM):c.857G>A (p.Arg286His)	PFKM (R236H +6 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 811928	NM_000289.6(PFKM):c.888G>A (p.Leu296=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GBenign/Likely benign
Select item 1330714	NM_000289.6(PFKM):c.1043T>C (p.Leu348Pro)	PFKM (L298P +7 more)	Single nucleotide variant (non-coding transcript variant +2 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 1552923	NM_000289.6(PFKM):c.1063-18G>A	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 994071	NM_000289.6(PFKM):c.1063-6C>A	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GConflicting classifications of pathogenicity
Select item 1138463	NM_000289.6(PFKM):c.1212T>C (p.Ala404=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GLikely benign
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 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 308955	NM_000289.6(PFKM):c.1338G>A (p.Gly446=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	not provided +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)	not provided +2 more	GLikely benign
Select item 255750	NM_000289.6(PFKM):c.1342-14G>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII +1 more	GBenign
Select item 994141	NM_000289.6(PFKM):c.1413-58C>A	PFKM	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
Select item 1331075	NM_000289.6(PFKM):c.1500+29C>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GLikely benign
Select item 255751	NM_000289.6(PFKM):c.1500+32C>T	PFKM	Single nucleotide variant (intron variant)	not specified +2 more	GBenign/Likely benign
Select item 390093	NM_000289.6(PFKM):c.1501-15C>T	PFKM	Single nucleotide variant (intron variant)	not specified +1 more	GLikely benign
Select item 2196489	NM_000289.6(PFKM):c.1771G>A (p.Asp591Asn)	PFKM (D562N +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 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 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 255757	NM_000289.6(PFKM):c.2093-14A>G	PFKM	Single nucleotide variant (intron variant)	not specified +1 more	GBenign
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 308957	NM_000289.6(PFKM):c.2199-12A>G	PFKM	Single nucleotide variant (intron variant)	not provided +1 more	GBenign/Likely benign
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 255758	NM_000289.6(PFKM):c.2334T>G (p.Ala778=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII +1 more	GBenign

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Items: 38