C0017926[trait identifier] AND "Illumina Laboratory Services, Illumina - ClinVar

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Items: 49

	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 308943	NM_000289.5(PFKM):c.-176C>T	PFKM	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 308944	NM_000289.5(PFKM):c.-174G>A	PFKM	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 308945	NM_000289.5(PFKM):c.-171C>A	PFKM	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 308946	NM_000289.5(PFKM):c.-112T>G	PFKM	Single nucleotide variant (5 prime UTR variant +1 more)	not provided +1 more	GBenign
Select item 308947	NM_000289.5(PFKM):c.-64C>T	PFKM (L9F)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 882999	NM_000289.6(PFKM):c.-17G>C	PFKM (K24N)	Single nucleotide variant (5 prime UTR variant +3 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 585161	NM_000289.6(PFKM):c.59T>C (p.Val20Ala)	PFKM (V20A +4 more)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases +2 more	GUncertain significance
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 308948	NM_000289.6(PFKM):c.360C>T (p.Gly120=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 308949	NM_000289.6(PFKM):c.453G>A (p.Thr151=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 883790	NM_000289.6(PFKM):c.514A>G (p.Thr172Ala)	PFKM (T122A +6 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
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 308950	NM_000289.6(PFKM):c.638+15C>A	PFKM	Single nucleotide variant (intron variant)	not specified +1 more	GConflicting classifications of pathogenicity
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 883791	NM_000289.6(PFKM):c.722A>G (p.Glu241Gly)	PFKM (E212G +6 more)	Single nucleotide variant (missense variant +1 more)	not provided +2 more	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 881457	NM_000289.6(PFKM):c.864A>G (p.Gly288=)	PFKM	Single nucleotide variant (synonymous variant +2 more)	Glycogen storage disease, type VII	GConflicting classifications of pathogenicity
Select item 881458	NM_000289.6(PFKM):c.965T>C (p.Met322Thr)	PFKM (M370T +7 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 308952	NM_000289.6(PFKM):c.1033C>T (p.Arg345Cys)	PFKM (R416C +7 more)	Single nucleotide variant (missense variant +2 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 308953	NM_000289.6(PFKM):c.1063-7C>T	PFKM	Single nucleotide variant (intron variant)	Glycogen storage disease, type VII	GConflicting classifications of pathogenicity
Select item 308954	NM_000289.6(PFKM):c.1242C>G (p.Gly414=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	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 881896	NM_000289.6(PFKM):c.1648T>C (p.Cys550Arg)	PFKM (C521R +8 more)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 308956	NM_000289.6(PFKM):c.1946A>G (p.Lys649Arg)	PFKM (K649R +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 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 762978	NM_000289.6(PFKM):c.2121G>A (p.Ser707=)	PFKM	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease, type VII	GConflicting classifications of pathogenicity
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 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 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
Select item 308959	NM_000289.6(PFKM):c.*3C>T	PFKM	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 308960	NM_000289.6(PFKM):c.*98G>A	PFKM	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 308961	NM_000289.6(PFKM):c.*134G>A	PFKM	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 883071	NM_000289.6(PFKM):c.*163G>A	PFKM	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease, type VII	GBenign
Select item 883072	NM_000289.6(PFKM):c.*282C>T	PFKM	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease, type VII	GBenign
Select item 883073	NM_000289.6(PFKM):c.*411G>A	PFKM	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 883074	NM_000289.6(PFKM):c.*452T>C	PFKM	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 308962	NM_000289.6(PFKM):c.*489T>A	PFKM	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 308963	NM_000289.6(PFKM):c.*503G>T	PFKM	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 883843	NM_000289.6(PFKM):c.*532A>G	PFKM	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 883844	NM_000289.6(PFKM):c.*564G>A	PFKM	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 308964	NM_000289.6(PFKM):c.*622G>A	PFKM	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease, type VII	GUncertain significance
Select item 883845	NM_000289.6(PFKM):c.*668G>T	PFKM	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen storage disease, type VII	GUncertain significance

ClinVar

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Items: 49