Related gene-specific medical variations for Gene (Select 5257) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3382911	NM_000293.3(PHKB):c.1971G>T (p.Gln657His)	PHKB (Q650H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 3380388	NM_000293.3(PHKB):c.23C>T (p.Thr8Met)	LOC130058947, PHKB (T8M)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 3359841	NM_000293.3(PHKB):c.392G>A (p.Arg131His)	PHKB (R124H +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3359631	NM_000293.3(PHKB):c.2755C>T (p.Gln919Ter)	PHKB (Q912* +1 more)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3339710	NM_000293.3(PHKB):c.305+6C>G	LOC112449713, PHKB	Single nucleotide variant (intron variant)	not specified	GUncertain significance
Select item 3243393	NC_000016.9:g.(?_47533647)_(47537021_?)dup	PHKB	Duplication	Glycogen storage disease IXb	GLikely pathogenic
Select item 3243392	NC_000016.9:g.(?_47694397)_(47695731_?)dup	PHKB	Duplication	Glycogen storage disease IXb	GLikely pathogenic
Select item 3243391	NC_000016.9:g.(?_47531290)_(47537021_?)dup	PHKB	Duplication	Glycogen storage disease IXb	GLikely pathogenic
Select item 3243390	NC_000016.9:g.(?_47727269)_(47730419_?)del	PHKB	Deletion	Glycogen storage disease IXb	GPathogenic
Select item 3243389	NC_000016.9:g.(?_47531290)_(47549532_?)del	PHKB	Deletion	Glycogen storage disease IXb	GPathogenic
Select item 3243388	NC_000016.9:g.(?_47531290)_(47545703_?)del	PHKB	Deletion	Glycogen storage disease IXb	GPathogenic
Select item 3243387	NC_000016.9:g.(?_47531290)_(47537021_?)del	PHKB	Deletion	Glycogen storage disease IXb	GPathogenic
Select item 3243386	NC_000016.9:g.(?_47531290)_(47703348_?)del	PHKB	Deletion	Glycogen storage disease IXb	GPathogenic
Select item 3243385	NC_000016.9:g.(?_47531290)_(47644851_?)del	PHKB	Deletion	Glycogen storage disease IXb	GPathogenic
Select item 3243384	NC_000016.9:g.(?_47531290)_(47623033_?)del	PHKB	Deletion	Glycogen storage disease IXb	GPathogenic
Select item 3243381	NC_000016.9:g.(?_47495262)_(47621694_?)del	PHKB	Deletion	Glycogen storage disease IXb	GPathogenic
Select item 3243380	NC_000016.9:g.(?_47495262)_(47614289_?)del	PHKB	Deletion	Glycogen storage disease IXb	GPathogenic
Select item 3243379	NC_000016.9:g.(?_47495262)_(47549532_?)del	PHKB	Deletion	Glycogen storage disease IXb	GPathogenic
Select item 3243378	NC_000016.9:g.(?_47495262)_(47537021_?)del	PHKB	Deletion	Glycogen storage disease IXb	GPathogenic
Select item 3243377	NC_000016.9:g.(?_47614186)_(47614289_?)del	PHKB	Deletion	Glycogen storage disease IXb	GPathogenic
Select item 3243376	NC_000016.9:g.(?_47581324)_(47581479_?)del	PHKB	Deletion	Glycogen storage disease IXb	GPathogenic
Select item 3243375	NC_000016.9:g.(?_47536882)_(47537021_?)del	PHKB	Deletion	Glycogen storage disease IXb	GPathogenic
Select item 3243374	NC_000016.9:g.(?_47698776)_(47699963_?)del	PHKB	Deletion	Glycogen storage disease IXb	GPathogenic
Select item 3212237	NM_000293.3(PHKB):c.26C>T (p.Ala9Val)	LOC130058947, PHKB (A9V)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3004149	NM_000293.3(PHKB):c.167-8A>G	LOC112449713, PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2998565	NM_000293.3(PHKB):c.76+10G>T	LOC130058947, PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2983871	NM_000293.3(PHKB):c.279G>A (p.Gly93=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2903350	NM_000293.3(PHKB):c.27A>C (p.Ala9=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2898934	NM_000293.3(PHKB):c.45C>T (p.Val15=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2876751	NM_000293.3(PHKB):c.180G>A (p.Leu60=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2866098	NM_000293.3(PHKB):c.174A>T (p.Ser58=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2861719	NM_000293.3(PHKB):c.198A>C (p.Pro66=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2860680	NM_000293.3(PHKB):c.234T>C (p.Gly78=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2844967	NM_000293.3(PHKB):c.38G>A (p.Trp13Ter)	LOC130058947, PHKB (W13*)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2842002	NM_000293.3(PHKB):c.294T>A (p.Ala98=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2834089	NM_000293.3(PHKB):c.66C>T (p.Thr22=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2809172	NM_000293.3(PHKB):c.6G>C (p.Ala2=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2800029	NM_000293.3(PHKB):c.76+4T>G	LOC130058947, PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2796462	NM_000293.3(PHKB):c.76+8T>A	LOC130058947, PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2792256	NM_000293.3(PHKB):c.305+2T>C	LOC112449713, PHKB	Single nucleotide variant (splice donor variant)	Glycogen storage disease IXb	GLikely pathogenic
Select item 2791519	NM_000293.3(PHKB):c.72C>T (p.Arg24=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2790380	NM_000293.3(PHKB):c.305+21_305+23del	LOC112449713, PHKB	Microsatellite (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2783793	NM_000293.3(PHKB):c.297T>C (p.Leu99=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2770188	NM_000293.3(PHKB):c.305+20C>T	LOC112449713, PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2760437	NM_000293.3(PHKB):c.305+7T>C	LOC112449713, PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2725892	NM_000293.3(PHKB):c.18A>T (p.Gly6=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2715371	NC_000016.10:g.47499755GTCAA[1]	LOC112449713, PHKB	Microsatellite	Glycogen storage disease IXb	GPathogenic
Select item 2696578	NM_000293.3(PHKB):c.225A>C (p.Thr75=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2695477	NM_000293.3(PHKB):c.305+13G>A	LOC112449713, PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2434701	NM_000293.3(PHKB):c.821G>A (p.Arg274His)	PHKB (R267H +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2434700	NM_000293.3(PHKB):c.2222C>A (p.Ala741Asp)	PHKB (A734D +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2199136	NM_000293.3(PHKB):c.186G>C (p.Leu62=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2198378	NM_000293.3(PHKB):c.25G>A (p.Ala9Thr)	PHKB, LOC130058947 (A9T)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 2197517	NM_000293.3(PHKB):c.1A>G (p.Met1Val)	LOC130058947, PHKB (M1V)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GUncertain significance
Select item 2195662	NM_000293.3(PHKB):c.186G>A (p.Leu62=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2186950	NM_000293.3(PHKB):c.27A>G (p.Ala9=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2181428	NM_000293.3(PHKB):c.211T>G (p.Phe71Val)	LOC112449713, PHKB (F64V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2180032	NM_000293.3(PHKB):c.76+15G>T	LOC130058947, PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 2163239	NM_000293.3(PHKB):c.21C>T (p.Leu7=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2162571	NM_000293.3(PHKB):c.204C>G (p.Thr68=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2152456	NM_000293.3(PHKB):c.228C>T (p.Cys76=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2101368	NM_000293.3(PHKB):c.219T>C (p.Thr73=)	PHKB, LOC112449713	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 2097794	NM_000293.3(PHKB):c.10del (p.Ala4fs)	LOC130058947, PHKB (A4fs)	Deletion (frameshift variant +1 more)	Glycogen storage disease IXb	GUncertain significance
Select item 2075807	NM_000293.3(PHKB):c.6G>T (p.Ala2=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 2065727	NM_000293.3(PHKB):c.178T>G (p.Leu60Val)	LOC112449713, PHKB (L53V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 2063999	NM_000293.3(PHKB):c.16G>A (p.Gly6Arg)	LOC130058947, PHKB (G6R)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease IXb	GUncertain significance
Select item 2044921	NM_000293.3(PHKB):c.12G>C (p.Ala4=)	LOC130058947, PHKB	Single nucleotide variant (5 prime UTR variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 1982736	NM_000293.3(PHKB):c.217A>G (p.Thr73Ala)	LOC112449713, PHKB (T66A +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 1970784	NM_000293.3(PHKB):c.300A>G (p.Ala100=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb	GLikely benign
Select item 1949886	NM_000293.3(PHKB):c.62G>C (p.Arg21Pro)	LOC130058947, PHKB (R21P)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases +1 more	GUncertain significance
Select item 1949460	NM_000293.3(PHKB):c.167-4G>T	LOC112449713, PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 1948402	NM_000293.3(PHKB):c.42G>A (p.Lys14=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXb	GLikely benign
Select item 1939992	NM_000293.3(PHKB):c.205G>A (p.Gly69Ser)	LOC112449713, PHKB (G62S +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 1913061	NM_000293.3(PHKB):c.167-8A>T	LOC112449713, PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 1804673	NM_000293.3(PHKB):c.76+1G>C	LOC130058947, PHKB	Single nucleotide variant (splice donor variant)	Glycogen phosphorylase kinase deficiency	GLikely pathogenic
Select item 1713458	NM_000293.3(PHKB):c.290T>C (p.Leu97Ser)	LOC112449713, PHKB (L90S +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 1488827	NM_000293.3(PHKB):c.271G>A (p.Ala91Thr)	LOC112449713, PHKB (A84T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 1436858	NM_000293.3(PHKB):c.31G>A (p.Val11Met)	LOC130058947, PHKB (V11M)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease IXb	GUncertain significance
Select item 1392051	NM_000293.3(PHKB):c.258C>G (p.Asp86Glu)	LOC112449713, PHKB (D79E +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 1356277	NM_000293.3(PHKB):c.14C>T (p.Ala5Val)	LOC130058947, PHKB (A5V)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease IXb	GUncertain significance
Select item 1346469	NM_000293.3(PHKB):c.229G>A (p.Gly77Ser)	LOC112449713, PHKB (G70S +1 more)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 1324894	NM_000293.3(PHKB):c.2273del (p.Lys758fs)	PHKB (K751fs +1 more)	Deletion (frameshift variant)	Glycogen storage disease IXb	GLikely pathogenic
Select item 1309593	NM_000293.3(PHKB):c.191A>G (p.Gln64Arg)	LOC112449713, PHKB (Q57R +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1001419	NM_000293.3(PHKB):c.287C>G (p.Ala96Gly)	LOC112449713, PHKB (A89G +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 998115	NM_000293.3:c.(?_-1)_(1068+1_1069-1)del	PHKB	Deletion	Glycogen storage disease IXb	GPathogenic
Select item 998114	NM_000293.3:c.(76+1_77-1)_(1068+1_1069-1)del	PHKB	Deletion	Glycogen storage disease IXb	GPathogenic
Select item 887976	NM_000293.3(PHKB):c.185T>C (p.Leu62Pro)	LOC112449713, PHKB (L55P +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 887975	NM_000293.3(PHKB):c.30A>C (p.Glu10Asp)	LOC130058947, PHKB (E10D)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease IXb	GConflicting classifications of pathogenicity
Select item 887974	NM_000293.3(PHKB):c.8G>C (p.Gly3Ala)	LOC130058947, PHKB (G3A)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease IXb +1 more	GUncertain significance
Select item 872458	NM_000293.3(PHKB):c.303C>G (p.Tyr101Ter)	LOC112449713, PHKB (Y101* +1 more)	Single nucleotide variant (nonsense)	not provided	GLikely pathogenic
Select item 744762	NM_000293.3(PHKB):c.305+10T>G	LOC112449713, PHKB	Single nucleotide variant (intron variant)	Glycogen storage disease IXb	GLikely benign
Select item 731639	NM_000293.3(PHKB):c.24G>A (p.Thr8=)	LOC130058947, PHKB	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 632254	NM_000293.3(PHKB):c.76+2T>C	LOC130058947, PHKB	Single nucleotide variant (splice donor variant)	Glycogen storage disease IXb	GUncertain significance
Select item 577258	NM_000293.3(PHKB):c.245C>G (p.Ala82Gly)	LOC112449713, PHKB (A82G +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 530957	NM_000293.3(PHKB):c.39G>A (p.Trp13Ter)	PHKB, LOC130058947 (W13*)	Single nucleotide variant (nonsense +1 more)	Glycogen storage disease IXb +2 more	GBenign/Likely benign
Select item 522767	NM_000293.3(PHKB):c.203C>T (p.Thr68Ile)	LOC112449713, PHKB (T68I +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXb	GUncertain significance
Select item 511596	NM_000293.3(PHKB):c.-8G>C	LOC130058947, PHKB	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign
Select item 511197	NM_000293.3(PHKB):c.258C>T (p.Asp86=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXb +1 more	GLikely benign
Select item 386059	NM_000293.3(PHKB):c.282C>T (p.Ala94=)	LOC112449713, PHKB	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 384782	NM_000293.2(PHKB):c.-45A>G	LOC130058947, PHKB	Single nucleotide variant (5 prime UTR variant)	not specified	GLikely benign

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