ClinVar for MedGen (Select 335112) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3066215	NM_002637.4(PHKA1):c.3280_3283del (p.Ser1094fs)	PHKA1 (S1022fs +2 more)	Microsatellite (frameshift variant)	Glycogen storage disease IXd	GUncertain significance
Select item 3022123	NM_002637.4(PHKA1):c.2526+6A>G	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GUncertain significance
Select item 3020156	NM_002637.4(PHKA1):c.1549A>G (p.Ile517Val)	PHKA1 (I517V)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 3019185	NM_002637.4(PHKA1):c.3244-19T>C	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GLikely benign
Select item 3016486	NM_002637.4(PHKA1):c.2739T>G (p.Ala913=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GLikely benign
Select item 3015637	NM_002637.4(PHKA1):c.864+12T>A	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GLikely benign
Select item 3015228	NM_002637.4(PHKA1):c.576A>C (p.Gln192His)	PHKA1 (Q192H)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 3011092	NM_002637.4(PHKA1):c.2280G>C (p.Glu760Asp)	PHKA1 (E701D +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 3010358	NM_002637.4(PHKA1):c.389G>A (p.Trp130Ter)	PHKA1, PHKA1-AS1 (W130*)	Single nucleotide variant (nonsense)	Glycogen storage disease IXd	GPathogenic
Select item 3009346	NM_002637.4(PHKA1):c.1308C>T (p.Pro436=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GLikely benign
Select item 3006810	NM_002637.4(PHKA1):c.1325-5T>C	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GLikely benign
Select item 3006601	NM_002637.4(PHKA1):c.1276C>T (p.Leu426=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GLikely benign
Select item 3003979	NM_002637.4(PHKA1):c.3006C>A (p.Ile1002=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GLikely benign
Select item 3003978	NM_002637.4(PHKA1):c.3024G>A (p.Glu1008=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GLikely benign
Select item 3003416	NM_002637.4(PHKA1):c.2393T>C (p.Leu798Ser)	PHKA1 (L739S +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 3002673	NM_002637.4(PHKA1):c.2588G>A (p.Arg863Gln)	PHKA1 (R804Q +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 3001706	NM_002637.4(PHKA1):c.2019C>G (p.Pro673=)	PHKA1	Single nucleotide variant (synonymous variant +1 more)	Glycogen storage disease IXd	GLikely benign
Select item 2998746	NM_002637.4(PHKA1):c.6G>A (p.Arg2=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GLikely benign
Select item 2996474	NM_002637.4(PHKA1):c.2546C>T (p.Ser849Phe)	PHKA1 (S790F +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2995409	NM_002637.4(PHKA1):c.1715-16T>C	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2992765	NM_002637.4(PHKA1):c.2660A>T (p.Asp887Val)	PHKA1 (D887V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2990265	NM_002637.4(PHKA1):c.2662A>G (p.Met888Val)	PHKA1 (M829V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2989670	NM_002637.4(PHKA1):c.1569+19A>G	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GLikely benign
Select item 2987491	NM_002637.4(PHKA1):c.3485T>A (p.Phe1162Tyr)	PHKA1 (F1090Y +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2983579	NM_002637.4(PHKA1):c.3244-12del	PHKA1	Deletion (intron variant)	Glycogen storage disease IXd	GBenign
Select item 2978864	NM_002637.4(PHKA1):c.2171A>G (p.Gln724Arg)	PHKA1 (Q665R +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2973574	NM_002637.4(PHKA1):c.174C>T (p.Gly58=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GLikely benign
Select item 2967041	NM_002637.4(PHKA1):c.207G>C (p.Glu69Asp)	PHKA1 (E69D)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2964612	NM_002637.4(PHKA1):c.454+12G>A	PHKA1, PHKA1-AS1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GLikely benign
Select item 2959503	NM_002637.4(PHKA1):c.784G>A (p.Val262Met)	PHKA1 (V262M)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2958694	NM_002637.4(PHKA1):c.1945G>C (p.Asp649His)	PHKA1 (D649H)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2917275	NM_002637.4(PHKA1):c.466A>G (p.Ile156Val)	PHKA1 (I156V)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2917267	NM_002637.4(PHKA1):c.3076C>T (p.Pro1026Ser)	PHKA1 (P1013S +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2917105	NM_002637.4(PHKA1):c.1138-20C>T	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GLikely benign
Select item 2914721	NM_002637.4(PHKA1):c.718-9T>C	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GLikely benign
Select item 2911810	NM_002637.4(PHKA1):c.3298-7A>G	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GLikely benign
Select item 2904020	NM_002637.4(PHKA1):c.3520A>G (p.Thr1174Ala)	PHKA1 (T1161A +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2899417	NM_002637.4(PHKA1):c.2697A>G (p.Val899=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GLikely benign
Select item 2898402	NM_002637.4(PHKA1):c.387A>G (p.Gln129=)	PHKA1, PHKA1-AS1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GLikely benign
Select item 2898401	NM_002637.4(PHKA1):c.3510C>T (p.Gly1170=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GLikely benign
Select item 2893459	NM_002637.4(PHKA1):c.1793+14A>G	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GLikely benign
Select item 2892268	NM_002637.4(PHKA1):c.1378A>G (p.Ile460Val)	PHKA1 (I460V)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2888281	NM_002637.4(PHKA1):c.3103G>A (p.Gly1035Arg)	PHKA1 (G963R +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2884789	NM_002637.4(PHKA1):c.455-5C>T	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GLikely benign
Select item 2883622	NM_002637.4(PHKA1):c.3243+7A>G	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GLikely benign
Select item 2881961	NM_002637.4(PHKA1):c.711C>G (p.His237Gln)	PHKA1 (H237Q)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2879436	NM_002637.4(PHKA1):c.2755C>T (p.Arg919Ter)	PHKA1 (R860* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease IXd	GPathogenic
Select item 2879226	NM_002637.4(PHKA1):c.2608C>T (p.Pro870Ser)	PHKA1 (P811S +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2878790	NM_002637.4(PHKA1):c.647A>G (p.Asp216Gly)	PHKA1 (D216G)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2877713	NM_002637.4(PHKA1):c.1531dup (p.Tyr511fs)	PHKA1 (Y511fs)	Duplication (frameshift variant)	Glycogen storage disease IXd	GPathogenic
Select item 2877115	NM_002637.4(PHKA1):c.3271G>T (p.Val1091Phe)	PHKA1 (V1019F +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2872356	NM_002637.4(PHKA1):c.1275C>T (p.Pro425=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GLikely benign
Select item 2869668	NM_002637.4(PHKA1):c.2587C>T (p.Arg863Ter)	PHKA1 (R863* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease IXd	GPathogenic
Select item 2868950	NM_002637.4(PHKA1):c.691C>T (p.Leu231=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GLikely benign
Select item 2867014	NM_002637.4(PHKA1):c.1536C>T (p.Asp512=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GLikely benign
Select item 2865854	NM_002637.4(PHKA1):c.3605A>T (p.Tyr1202Phe)	PHKA1 (Y1202F +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2865104	NM_002637.4(PHKA1):c.2685+13G>A	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GLikely benign
Select item 2865051	NM_002637.4(PHKA1):c.2683C>T (p.Gln895Ter)	PHKA1 (Q836* +1 more)	Single nucleotide variant (nonsense)	Glycogen storage disease IXd	GPathogenic
Select item 2863484	NM_002637.4(PHKA1):c.1285A>C (p.Arg429=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GLikely benign
Select item 2861792	NM_002637.4(PHKA1):c.2550C>G (p.His850Gln)	PHKA1 (H791Q +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2855604	NM_002637.4(PHKA1):c.3497A>T (p.Gln1166Leu)	PHKA1 (Q1094L +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2853841	NM_002637.4(PHKA1):c.1654A>G (p.Ser552Gly)	PHKA1 (S552G)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2851217	NM_002637.4(PHKA1):c.1072G>C (p.Val358Leu)	PHKA1 (V358L)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2846354	NM_002637.4(PHKA1):c.2379C>A (p.Asp793Glu)	PHKA1 (D793E +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2839018	NM_002637.4(PHKA1):c.280A>C (p.Arg94=)	PHKA1, PHKA1-AS1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GLikely benign
Select item 2824542	NM_002637.4(PHKA1):c.426G>A (p.Leu142=)	PHKA1, PHKA1-AS1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GLikely benign
Select item 2819599	NM_002637.4(PHKA1):c.538-19A>G	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GLikely benign
Select item 2817460	NM_002637.4(PHKA1):c.2471G>A (p.Gly824Asp)	PHKA1 (G765D +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2814433	NM_002637.4(PHKA1):c.3304C>A (p.Pro1102Thr)	PHKA1 (P1030T +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2811979	NM_002637.4(PHKA1):c.3081A>T (p.Gly1027=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GLikely benign
Select item 2787089	NM_002637.4(PHKA1):c.2093A>T (p.Asp698Val)	PHKA1 (D698V)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease IXd	GUncertain significance
Select item 2785089	NM_002637.4(PHKA1):c.1592A>G (p.Tyr531Cys)	PHKA1 (Y531C)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2782649	NM_002637.4(PHKA1):c.2416G>C (p.Val806Leu)	PHKA1 (V747L +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2780302	NM_002637.4(PHKA1):c.1041+20G>A	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GLikely benign
Select item 2777980	NM_002637.4(PHKA1):c.2369+17A>G	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GLikely benign
Select item 2776359	NM_002637.4(PHKA1):c.198C>T (p.Asp66=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GLikely benign
Select item 2775892	NM_002637.4(PHKA1):c.1978G>A (p.Val660Ile)	PHKA1 (V660I)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease IXd	GUncertain significance
Select item 2772140	NM_002637.4(PHKA1):c.2708T>A (p.Met903Lys)	PHKA1 (M903K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2768467	NM_002637.4(PHKA1):c.537+5G>A	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2761981	NM_002637.4(PHKA1):c.2370-13G>A	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GLikely benign
Select item 2761546	NM_002637.4(PHKA1):c.459C>G (p.Leu153=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GBenign
Select item 2760208	NM_002637.4(PHKA1):c.2384A>T (p.Asn795Ile)	PHKA1 (N736I +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2754637	NM_002637.4(PHKA1):c.1431T>A (p.Arg477=)	PHKA1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXd	GLikely benign
Select item 2749439	NM_002637.4(PHKA1):c.3072+3G>A	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2746824	NM_002637.4(PHKA1):c.982T>C (p.Trp328Arg)	PHKA1 (W328R)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2741942	NM_002637.4(PHKA1):c.3120A>G (p.Ala1040=)	PHKA1	Single nucleotide variant (synonymous variant)	PHKA1-related condition +1 more	GLikely benign
Select item 2739352	NM_002637.4(PHKA1):c.79-5dup	PHKA1	Duplication (intron variant)	Glycogen storage disease IXd	GBenign
Select item 2737724	NM_002637.4(PHKA1):c.285+7T>C	PHKA1, PHKA1-AS1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GLikely benign
Select item 2731649	NM_002637.4(PHKA1):c.2839A>G (p.Met947Val)	PHKA1 (M947V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2730387	NM_002637.4(PHKA1):c.2599A>G (p.Ile867Val)	PHKA1 (I808V +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2726439	NM_002637.4(PHKA1):c.199C>G (p.Arg67Gly)	PHKA1 (R67G)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2726095	NM_002637.4(PHKA1):c.2062C>T (p.Arg688Trp)	PHKA1 (R688W)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease IXd	GUncertain significance
Select item 2724870	NM_002637.4(PHKA1):c.2750G>T (p.Arg917Leu)	PHKA1 (R858L +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2720476	NM_002637.4(PHKA1):c.2685+17A>G	PHKA1	Single nucleotide variant (intron variant)	Glycogen storage disease IXd	GLikely benign
Select item 2717661	NM_002637.4(PHKA1):c.1754C>T (p.Ala585Val)	PHKA1 (A585V)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2712081	NM_002637.4(PHKA1):c.3116G>A (p.Ser1039Asn)	PHKA1 (S1026N +2 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2711776	NM_002637.4(PHKA1):c.2006C>A (p.Ala669Glu)	PHKA1 (A669E)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease IXd	GUncertain significance
Select item 2708065	NM_002637.4(PHKA1):c.1222A>G (p.Ile408Val)	PHKA1 (I408V)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2707122	NM_002637.4(PHKA1):c.2962G>A (p.Glu988Lys)	PHKA1 (E929K +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance
Select item 2702642	NM_002637.4(PHKA1):c.2957T>C (p.Ile986Thr)	PHKA1 (I927T +1 more)	Single nucleotide variant (missense variant)	Glycogen storage disease IXd	GUncertain significance

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