Related gene-specific medical variations for Gene (Select 5261) - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3266390	NM_001014979.3(CFAP119):c.787G>C (p.Glu263Gln)	CFAP119, PHKG2 (E263Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3266387	NM_001014979.3(CFAP119):c.428C>T (p.Ala143Val)	CFAP119, LOC126862330 +1 more (A143V)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3266386	NM_001014979.3(CFAP119):c.454C>T (p.His152Tyr)	CFAP119, LOC126862330 +1 more (H152Y)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3243491	NC_000016.9:g.(?_30760142)_(30768418_?)dup	PHKG2	Duplication	Glycogen storage disease IXc	GUncertain significance
Select item 3243490	NC_000016.9:g.(?_30762850)_(30762944_?)del	PHKG2	Deletion	Glycogen storage disease IXc	GPathogenic
Select item 3243489	NC_000016.9:g.(?_30760142)_(30768418_?)del	PHKG2	Deletion	Glycogen storage disease IXc	GPathogenic
Select item 3143320	NM_001014979.3(CFAP119):c.950G>A (p.Arg317Gln)	CFAP119, PHKG2 (R317Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3143319	NM_001014979.3(CFAP119):c.881A>G (p.Gln294Arg)	CFAP119, PHKG2 (Q294R)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143318	NM_001014979.3(CFAP119):c.857T>C (p.Val286Ala)	CFAP119, PHKG2 (V286A)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143317	NM_001014979.3(CFAP119):c.851C>T (p.Thr284Ile)	CFAP119, PHKG2 (T284I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143316	NM_001014979.3(CFAP119):c.725C>T (p.Thr242Met)	CFAP119, PHKG2 (T242M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GLikely benign
Select item 3143315	NM_001014979.3(CFAP119):c.685A>G (p.Met229Val)	CFAP119, PHKG2 (M229V)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143314	NM_001014979.3(CFAP119):c.658G>C (p.Val220Leu)	CFAP119, PHKG2 (V220L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143313	NM_001014979.3(CFAP119):c.643G>A (p.Val215Ile)	CFAP119, PHKG2 (V215I)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143310	NM_001014979.3(CFAP119):c.601G>A (p.Val201Met)	CFAP119, PHKG2 (V201M)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143308	NM_001014979.3(CFAP119):c.579G>C (p.Gln193His)	CFAP119, PHKG2 (Q193H)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143306	NM_001014979.3(CFAP119):c.541C>T (p.Arg181Trp)	CFAP119, PHKG2 (R181W)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 3143305	NM_001014979.3(CFAP119):c.370T>C (p.Phe124Leu)	CFAP119, LOC126862330 +1 more (F124L)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3143304	NM_001014979.3(CFAP119):c.352G>A (p.Ala118Thr)	CFAP119, LOC126862330 +1 more (A118T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3143303	NM_001014979.3(CFAP119):c.298G>C (p.Glu100Gln)	CFAP119, LOC126862330 +1 more (E100Q)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GLikely benign
Select item 3065968	NM_000294.3(PHKG2):c.166del (p.Glu56fs)	PHKG2 (E56fs)	Deletion (frameshift variant)	Glycogen storage disease IXc	GLikely pathogenic
Select item 3065817	NM_000294.3(PHKG2):c.348dup (p.Asp117Ter)	PHKG2 (D117*)	Duplication (nonsense)	Glycogen storage disease IXc	GUncertain significance
Select item 2671939	NM_000294.3(PHKG2):c.212G>A (p.Arg71Gln)	PHKG2 (R71Q)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc	GUncertain significance
Select item 2646417	NM_001014979.3(CFAP119):c.558C>T (p.Ile186=)	CFAP119, PHKG2	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 2646416	NM_001014979.3(CFAP119):c.778G>C (p.Glu260Gln)	CFAP119, PHKG2 (E260Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GLikely benign
Select item 2646415	NM_001014979.3(CFAP119):c.836G>A (p.Arg279Gln)	CFAP119, PHKG2 (R279Q)	Single nucleotide variant (3 prime UTR variant +2 more)	not provided	GBenign
Select item 2492155	NM_001014979.3(CFAP119):c.710G>T (p.Trp237Leu)	CFAP119, PHKG2 (W237L)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2472615	NM_001014979.3(CFAP119):c.586G>T (p.Ala196Ser)	CFAP119, PHKG2 (A196S)	Single nucleotide variant (3 prime UTR variant +2 more)	not specified	GUncertain significance
Select item 2464296	NM_001014979.3(CFAP119):c.379G>A (p.Ala127Thr)	CFAP119, LOC126862330 +1 more (A127T)	Single nucleotide variant (3 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2434702	NM_000294.3(PHKG2):c.886G>A (p.Gly296Ser)	PHKG2 (G296S)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc	GUncertain significance
Select item 886235	NM_000294.3(PHKG2):c.-76G>C	LOC130058864, PHKG2	Single nucleotide variant (5 prime UTR variant)	Glycogen storage disease IXc	GUncertain significance
Select item 694643	NM_000294.3(PHKG2):c.661G>A (p.Val221Met)	PHKG2 (V221M)	Single nucleotide variant (missense variant)	Glycogen storage disease IXc	GLikely pathogenic
Select item 694642	NM_000294.3(PHKG2):c.783del (p.Ser262fs)	PHKG2 (S262fs)	Deletion (frameshift variant)	Glycogen storage disease IXc	GPathogenic
Select item 318952	NM_000294.3(PHKG2):c.*3988T>C	CFAP119, LOC126862330 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 318951	NM_000294.3(PHKG2):c.*3879A>G	CFAP119, LOC126862330 +1 more	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 318950	NM_001014979.3(CFAP119):c.512C>T (p.Thr171Ile)	CFAP119, PHKG2 (T171I)	Single nucleotide variant (3 prime UTR variant +2 more)	Glycogen phosphorylase kinase deficiency +1 more	GUncertain significance
Select item 318949	NM_000294.3(PHKG2):c.*2539T>C	CFAP119, PHKG2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen phosphorylase kinase deficiency	GLikely benign
Select item 318948	NM_000294.3(PHKG2):c.*2154G>A	CFAP119, PHKG2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 318947	NM_000294.3(PHKG2):c.*1135C>T	CFAP119, PHKG2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 318946	NM_000294.3(PHKG2):c.*846A>G	CFAP119, PHKG2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 318945	NM_000294.3(PHKG2):c.*590G>A	CFAP119, PHKG2	Single nucleotide variant (3 prime UTR variant +1 more)	Glycogen phosphorylase kinase deficiency	GLikely benign
Select item 318944	NM_000294.3(PHKG2):c.*546C>T	CFAP119, PHKG2 (V277I)	Single nucleotide variant (3 prime UTR variant +2 more)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 318929	NM_000294.3(PHKG2):c.-70C>T	LOC130058864, PHKG2	Single nucleotide variant (5 prime UTR variant)	Glycogen phosphorylase kinase deficiency	GUncertain significance
Select item 255784	NM_000294.3(PHKG2):c.36C>T (p.Pro12=)	PHKG2	Single nucleotide variant (synonymous variant)	not specified	GLikely benign

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Links from Gene

Items: 44