ClinVar for MedGen (Select 854172) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3065868	NM_000292.3(PHKA2):c.586G>A (p.Glu196Lys)	PHKA2 (E196K)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 3064123	NM_000292.3(PHKA2):c.3262G>A (p.Val1088Met)	PHKA2 (V1088M)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 3023604	NM_000292.3(PHKA2):c.2613G>A (p.Glu871=)	PHKA2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2995038	NM_000292.3(PHKA2):c.216C>T (p.Ala72=)	PHKA2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2984689	NM_000292.3(PHKA2):c.1942C>T (p.Leu648=)	PHKA2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2976577	NM_000292.3(PHKA2):c.2598G>T (p.Ala866=)	PHKA2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2961677	NM_000292.3(PHKA2):c.3357G>A (p.Lys1119=)	PHKA2, PHKA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease IXa1	GLikely benign
Select item 2954575	NM_000292.3(PHKA2):c.3027+10C>T	PHKA2	Single nucleotide variant (intron variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2916168	NM_000292.3(PHKA2):c.3121A>G (p.Thr1041Ala)	PHKA2 (T1041A)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2915352	NM_000292.3(PHKA2):c.3336+20G>T	PHKA2	Single nucleotide variant (intron variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2908917	NM_000292.3(PHKA2):c.547A>G (p.Met183Val)	PHKA2 (M183V)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2897180	NM_000292.3(PHKA2):c.2895C>T (p.Gly965=)	PHKA2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2890618	NM_000292.3(PHKA2):c.354C>T (p.Thr118=)	PHKA2	Single nucleotide variant (synonymous variant)	PHKA2-related condition +1 more	GLikely benign
Select item 2888627	NM_000292.3(PHKA2):c.454+9G>C	PHKA2	Single nucleotide variant (intron variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2860103	NM_000292.3(PHKA2):c.3615G>C (p.Pro1205=)	PHKA2, PHKA2-AS1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2830678	NM_000292.3(PHKA2):c.1121C>T (p.Ala374Val)	PHKA2 (A374V)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2822225	NM_000292.3(PHKA2):c.3409C>T (p.Arg1137Trp)	PHKA2, PHKA2-AS1 (R1137W)	Single nucleotide variant (missense variant +1 more)	Glycogen storage disease IXa1	GUncertain significance
Select item 2785643	NM_000292.3(PHKA2):c.2401G>T (p.Val801Phe)	PHKA2 (V801F)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2770873	NM_000292.3(PHKA2):c.584del (p.Pro195fs)	PHKA2 (P195fs)	Deletion (frameshift variant)	Glycogen storage disease IXa1	GPathogenic
Select item 2767520	NM_000292.3(PHKA2):c.1502del (p.His501fs)	PHKA2 (H501fs)	Deletion (frameshift variant)	Glycogen storage disease IXa1	GPathogenic
Select item 2757858	NM_000292.3(PHKA2):c.509T>C (p.Phe170Ser)	PHKA2 (F170S)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2755219	NM_000292.3(PHKA2):c.1519A>G (p.Thr507Ala)	PHKA2 (T507A)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2751778	NM_000292.3(PHKA2):c.2802C>G (p.Cys934Trp)	PHKA2 (C934W)	Single nucleotide variant (missense variant)	PHKA2-related condition +1 more	GLikely benign
Select item 2751739	NM_000292.3(PHKA2):c.3112-2A>G	PHKA2	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IXa1	GLikely pathogenic
Select item 2750740	NM_000292.3(PHKA2):c.2360+12A>G	PHKA2	Single nucleotide variant (intron variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2747862	NM_000292.3(PHKA2):c.1081A>G (p.Arg361Gly)	PHKA2 (R361G)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2743375	NM_000292.3(PHKA2):c.3424G>A (p.Glu1142Lys)	PHKA2, PHKA2-AS1 (E1142K)	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease IXa1	GUncertain significance
Select item 2740451	NM_000292.3(PHKA2):c.3402C>T (p.Pro1134=)	PHKA2, PHKA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease IXa1 +1 more	GBenign/Likely benign
Select item 2740025	NM_000292.3(PHKA2):c.2806+12G>A	PHKA2	Single nucleotide variant (intron variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2739116	NM_000292.3(PHKA2):c.454+10G>A	PHKA2	Single nucleotide variant (intron variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2738831	NM_000292.3(PHKA2):c.2806+16C>T	PHKA2	Single nucleotide variant (intron variant)	Glycogen storage disease IXa1	GBenign
Select item 2738023	NM_000292.3(PHKA2):c.1964-15C>A	PHKA2	Single nucleotide variant (intron variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2737096	NM_000292.3(PHKA2):c.538G>A (p.Asp180Asn)	PHKA2 (D180N)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2732623	NM_000292.3(PHKA2):c.147C>T (p.Tyr49=)	PHKA2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2725904	NM_000292.3(PHKA2):c.84C>T (p.Pro28=)	PHKA2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2711621	NM_000292.3(PHKA2):c.2257G>A (p.Asp753Asn)	PHKA2 (D753N)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2707197	NM_000292.3(PHKA2):c.3665A>C (p.Tyr1222Ser)	PHKA2, PHKA2-AS1 (Y1222S)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2705157	NM_000292.3(PHKA2):c.2445C>T (p.Gly815=)	PHKA2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2700165	NM_000292.3(PHKA2):c.2783_2793del (p.Leu928fs)	PHKA2 (L928fs)	Deletion (frameshift variant)	Glycogen storage disease IXa1	GPathogenic
Select item 2696072	NM_000292.3(PHKA2):c.3329_3336+6del	PHKA2	Deletion (splice donor variant)	Glycogen storage disease IXa1	GPathogenic
Select item 2671950	NM_000292.3(PHKA2):c.2894G>A (p.Gly965Asp)	PHKA2 (G965D)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2664022	NM_000292.3(PHKA2):c.3557A>C (p.Asp1186Ala)	PHKA2, PHKA2-AS1 (D1186A)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2585111	NM_000292.3(PHKA2):c.1325-1G>A	PHKA2	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IXa1	GLikely pathogenic
Select item 2585050	NM_000292.3(PHKA2):c.1153A>G (p.Lys385Glu)	PHKA2 (K385E)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2582630	NM_000292.3(PHKA2):c.3287A>G (p.His1096Arg)	PHKA2 (H1096R)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2500256	NM_000292.3(PHKA2):c.2249G>A (p.Trp750Ter)	PHKA2 (W750*)	Single nucleotide variant (nonsense)	Glycogen storage disease IXa1	GLikely pathogenic
Select item 2444416	NM_000292.3(PHKA2):c.717+1G>A	PHKA2	Single nucleotide variant (splice donor variant)	Glycogen storage disease IXa1	GLikely pathogenic
Select item 2444190	NM_000292.3(PHKA2):c.3336G>C (p.Glu1112Asp)	PHKA2 (E1112D)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2442135	NM_000292.3(PHKA2):c.1757T>G (p.Ile586Ser)	PHKA2 (I586S)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2434699	NM_000292.3(PHKA2):c.959T>C (p.Leu320Pro)	PHKA2 (L320P)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2434698	NM_000292.3(PHKA2):c.1975G>A (p.Glu659Lys)	PHKA2 (E659K)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2434697	NM_000292.3(PHKA2):c.488C>T (p.Ala163Val)	PHKA2 (A163V)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2422823	NC_000023.10:g.(?_18925998)_(18929098_?)del	PHKA2	Deletion	Glycogen storage disease IXa1	GPathogenic
Select item 2223245	NM_000292.3(PHKA2):c.1569+3G>A	PHKA2	Single nucleotide variant (intron variant)	Glycogen storage disease IXa1 +1 more	GConflicting classifications of pathogenicity
Select item 2199998	NM_000292.3(PHKA2):c.44C>T (p.Ala15Val)	PHKA2 (A15V)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2192927	NM_000292.3(PHKA2):c.3282+8G>A	PHKA2	Single nucleotide variant (intron variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2179901	NM_000292.3(PHKA2):c.3492G>A (p.Val1164=)	PHKA2, PHKA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease IXa1	GLikely benign
Select item 2168050	NM_000292.3(PHKA2):c.3205C>T (p.Arg1069Cys)	PHKA2 (R1069C)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2163038	NM_000292.3(PHKA2):c.1492C>A (p.Pro498Thr)	PHKA2 (P498T)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2161034	NM_000292.3(PHKA2):c.3174C>G (p.Ile1058Met)	PHKA2 (I1058M)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2159313	NM_000292.3(PHKA2):c.3282+15G>A	PHKA2	Single nucleotide variant (intron variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2156167	NM_000292.3(PHKA2):c.1221C>T (p.Tyr407=)	PHKA2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2154264	NM_000292.3(PHKA2):c.2969C>T (p.Thr990Ile)	PHKA2 (T990I)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2150857	NM_000292.3(PHKA2):c.1655C>T (p.Thr552Ile)	PHKA2 (T552I)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 2142809	NM_000292.3(PHKA2):c.3158C>T (p.Ser1053Leu)	PHKA2 (S1053L)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2141377	NM_000292.3(PHKA2):c.1137+17G>A	PHKA2	Single nucleotide variant (intron variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2139545	NM_000292.3(PHKA2):c.2807-11T>C	PHKA2	Single nucleotide variant (intron variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2138484	NM_000292.3(PHKA2):c.1174C>T (p.Arg392Ter)	PHKA2 (R392*)	Single nucleotide variant (nonsense)	Glycogen storage disease IXa1	GPathogenic
Select item 2138483	NM_000292.3(PHKA2):c.2600C>T (p.Pro867Leu)	PHKA2 (P867L)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2101957	NM_000292.3(PHKA2):c.1420C>T (p.Gln474Ter)	PHKA2 (Q474*)	Single nucleotide variant (nonsense)	Glycogen storage disease IXa1	GPathogenic
Select item 2089045	NM_000292.3(PHKA2):c.286-15T>A	PHKA2	Single nucleotide variant (intron variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2074148	NM_000292.3(PHKA2):c.858G>A (p.Lys286=)	PHKA2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2069284	NM_000292.3(PHKA2):c.3507G>A (p.Gln1169=)	PHKA2, PHKA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease IXa1	GLikely benign
Select item 2066415	NM_000292.3(PHKA2):c.2398G>A (p.Gly800Arg)	PHKA2 (G800R)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 2065751	NM_000292.3(PHKA2):c.3159G>A (p.Ser1053=)	PHKA2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2061054	NM_000292.3(PHKA2):c.3388C>T (p.Arg1130Cys)	PHKA2, PHKA2-AS1 (R1130C)	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease IXa1	GUncertain significance
Select item 2059148	NM_000292.3(PHKA2):c.2146A>G (p.Met716Val)	PHKA2 (M716V)	Single nucleotide variant (missense variant)	not provided +2 more	GBenign/Likely benign
Select item 2055677	NM_000292.3(PHKA2):c.2578C>T (p.Arg860Trp)	PHKA2 (R860W)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GLikely benign
Select item 2052212	NM_000292.3(PHKA2):c.1462C>T (p.Arg488Trp)	PHKA2 (R488W)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2028107	NM_000292.3(PHKA2):c.1794-8_1794-6del	PHKA2	Microsatellite (intron variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 2008126	NM_000292.3(PHKA2):c.218A>G (p.Lys73Arg)	PHKA2 (K73R)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 1995607	NM_000292.3(PHKA2):c.3410G>C (p.Arg1137Pro)	PHKA2, PHKA2-AS1 (R1137P)	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease IXa1	GUncertain significance
Select item 1937564	NM_000292.3(PHKA2):c.1715-14C>T	PHKA2	Single nucleotide variant (intron variant)	Glycogen storage disease IXa1	GBenign
Select item 1926820	NM_000292.3(PHKA2):c.3027+8C>A	PHKA2	Single nucleotide variant (intron variant)	Glycogen storage disease IXa1	GLikely benign
Select item 1810400	NM_000292.3(PHKA2):c.1969C>T (p.Gln657Ter)	PHKA2 (Q657*)	Single nucleotide variant (nonsense)	Glycogen storage disease IXa1	GPathogenic
Select item 1722261	NM_000292.3(PHKA2):c.3284G>A (p.Cys1095Tyr)	PHKA2 (C1095Y)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 1717870	NM_000292.3(PHKA2):c.3516T>G (p.Ser1172Arg)	PHKA2-AS1, PHKA2 (S1172R)	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease IXa1	GUncertain significance
Select item 1716783	NM_000292.3(PHKA2):c.1168G>A (p.Val390Ile)	PHKA2 (V390I)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 1709404	NM_000292.3(PHKA2):c.721A>C (p.Ile241Leu)	PHKA2 (I241L)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 1703196	NM_000292.3(PHKA2):c.892C>T (p.Arg298Ter)	PHKA2 (R298*)	Single nucleotide variant (nonsense)	Glycogen storage disease IXa1	GLikely pathogenic
Select item 1686060	NM_000292.3(PHKA2):c.1210C>T (p.Gln404Ter)	PHKA2 (Q404*)	Single nucleotide variant (nonsense)	Glycogen storage disease IXa1	GPathogenic
Select item 1686059	NM_000292.3(PHKA2):c.1324+1G>A	PHKA2	Single nucleotide variant (splice donor variant)	Glycogen storage disease IXa1	GPathogenic
Select item 1685402	NM_000292.3(PHKA2):c.557G>C (p.Arg186Pro)	PHKA2 (R186P)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GLikely pathogenic
Select item 1685401	NM_000292.3(PHKA2):c.919-1G>A	PHKA2	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IXa1	GLikely pathogenic
Select item 1685004	NM_000292.3(PHKA2):c.1499G>A (p.Arg500Gln)	PHKA2 (R500Q)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1 +1 more	GUncertain significance
Select item 1683501	NM_000292.3(PHKA2):c.772G>A (p.Gly258Arg)	PHKA2 (G258R)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 1672938	NM_000292.3(PHKA2):c.1460-5A>C	PHKA2	Single nucleotide variant (intron variant)	Glycogen storage disease IXa1	GLikely benign
Select item 1665025	NM_000292.3(PHKA2):c.2622A>G (p.Thr874=)	PHKA2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXa1	GLikely benign
Select item 1635889	NM_000292.3(PHKA2):c.18T>C (p.Asn6=)	PHKA2	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXa1	GLikely benign
Select item 1621032	NM_000292.3(PHKA2):c.285+12C>T	PHKA2	Single nucleotide variant (intron variant)	Glycogen storage disease IXa1	GLikely benign

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