ClinVar for Gene (Select 5256) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3372522	NM_000292.3(PHKA2):c.918G>T (p.Glu306Asp)	PHKA2 (E306D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3368455	NM_000292.3(PHKA2):c.3140G>A (p.Gly1047Asp)	PHKA2 (G1047D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3367043	NM_000292.3(PHKA2):c.237+1G>T	PHKA2	Single nucleotide variant (splice donor variant)	Glycogen storage disease IXa1	GLikely pathogenic
Select item 3360415	NM_000292.3(PHKA2):c.10A>G (p.Arg4Gly)	PHKA2 (R4G)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3356635	NM_000292.3(PHKA2):c.1333_1336delinsCACAGTTCTTGTTCA (p.Leu445fs)	PHKA2 (L445fs)	Indel (frameshift variant)	PHKA2-related disorder	GPathogenic
Select item 3344432	NM_000292.3(PHKA2):c.3190C>T (p.Gln1064Ter)	PHKA2 (Q1064*)	Single nucleotide variant (nonsense)	PHKA2-related disorder	GLikely pathogenic
Select item 3341458	NM_000292.3(PHKA2):c.79-2A>T	PHKA2	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IXa1	GLikely pathogenic
Select item 3340953	NM_000292.3(PHKA2):c.3334G>T (p.Glu1112Ter)	PHKA2 (E1112*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 3338320	NM_000292.3(PHKA2):c.455-5_463del	PHKA2	Deletion (splice acceptor variant)	Glycogen storage disease IXa1	GLikely pathogenic
Select item 3306176	NM_000292.3(PHKA2):c.2832G>A (p.Met944Ile)	PHKA2 (M944I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3306175	NM_000292.3(PHKA2):c.2911C>T (p.Arg971Cys)	PHKA2 (R971C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3255575	NM_000292.3(PHKA2):c.1661G>A (p.Trp554Ter)	PHKA2 (W554*)	Single nucleotide variant (nonsense)	Glycogen storage disease IXa1	GPathogenic
Select item 3251440	NM_000292.3(PHKA2):c.2972G>C (p.Gly991Ala)	PHKA2 (G991A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3251190	NM_000292.3(PHKA2):c.3508_3510dup (p.Met1170_Ala1171insMet)	PHKA2, PHKA2-AS1	Duplication (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 3245767	NC_000023.10:g.(?_14027032)_(19854400_?)del	ASB9, BEND2 +35 more	Deletion	not provided	GPathogenic
Select item 3243867	NC_000023.10:g.(?_17393881)_(20284750_?)del	ADGRG2, BCLAF3 +15 more	Deletion	Coffin-Lowry syndrome +5 more	GPathogenic
Select item 3242589	GRCh38/hg38 Xp22.33-q28(chrX:2757837-156030895)x2	LOC130068417, LOC130068418 +2599 more	Copy number gain	Klinefelter syndrome	GPathogenic
Select item 3236437	NM_000292.3(PHKA2):c.3422T>A (p.Val1141Glu)	PHKA2, PHKA2-AS1 (V1141E)	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease IXa1	GUncertain significance
Select item 3233809	NM_000292.3(PHKA2):c.3146C>T (p.Ser1049Leu)	PHKA2 (S1049L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3212227	NM_000292.3(PHKA2):c.3620G>A (p.Gly1207Glu)	PHKA2, PHKA2-AS1 (G1207E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212226	NM_000292.3(PHKA2):c.3262G>T (p.Val1088Leu)	PHKA2 (V1088L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212225	NM_000292.3(PHKA2):c.3115T>A (p.Ser1039Thr)	PHKA2 (S1039T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212224	NM_000292.3(PHKA2):c.2851A>G (p.Met951Val)	PHKA2 (M951V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 3212223	NM_000292.3(PHKA2):c.185G>A (p.Arg62His)	PHKA2 (R62H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212222	NM_000292.3(PHKA2):c.1744G>A (p.Val582Met)	PHKA2 (V582M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212221	NM_000292.3(PHKA2):c.1636G>A (p.Glu546Lys)	PHKA2 (E546K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
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 3063982	NM_000292.3(PHKA2):c.1787G>A (p.Gly596Glu)	PHKA2 (G596E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062511	GRCh37/hg19 Xp22.33-11.1(chrX:168546-58364114)	ACE2, ACOT9 +314 more	Copy number loss	not specified	GPathogenic
Select item 3062471	GRCh37/hg19 Xp22.33-11.21(chrX:168546-55653170)	ACE2, ACOT9 +305 more	Copy number loss	not specified	GPathogenic
Select item 3061037	NM_000292.3(PHKA2):c.3565G>A (p.Glu1189Lys)	PHKA2, PHKA2-AS1 (E1189K)	Single nucleotide variant (missense variant)	PHKA2-related disorder	GLikely benign
Select item 3056479	NM_000292.3(PHKA2):c.2244T>C (p.Phe748=)	PHKA2	Single nucleotide variant (synonymous variant)	PHKA2-related disorder	GLikely benign
Select item 3051940	NM_000292.3(PHKA2):c.1746G>T (p.Val582=)	PHKA2	Single nucleotide variant (synonymous variant)	PHKA2-related disorder	GLikely benign
Select item 3049078	NM_000292.3(PHKA2):c.2397C>T (p.His799=)	PHKA2	Single nucleotide variant (synonymous variant)	PHKA2-related disorder	GLikely benign
Select item 3048063	NM_000292.3(PHKA2):c.1188G>A (p.Gly396=)	PHKA2	Single nucleotide variant (synonymous variant)	PHKA2-related disorder	GLikely benign
Select item 3036515	NM_000292.3(PHKA2):c.420C>G (p.Leu140=)	PHKA2	Single nucleotide variant (synonymous variant)	PHKA2-related disorder	GLikely benign
Select item 3032335	NM_000292.3(PHKA2):c.1811T>C (p.Leu604Pro)	PHKA2 (L604P)	Single nucleotide variant (missense variant)	PHKA2-related disorder	GUncertain significance
Select item 3029323	NM_000292.3(PHKA2):c.42C>T (p.Tyr14=)	PHKA2	Single nucleotide variant (synonymous variant)	PHKA2-related disorder	GLikely benign
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)	Glycogen storage disease IXa1	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 (non-coding transcript 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)	Glycogen storage disease IXa1	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	GBenign
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 +1 more	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 2685736	GRCh37/hg19 Xp22.13(chrX:18207863-19188070)x2	ADGRG2, BEND2 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2685727	GRCh37/hg19 Xp22.33-21.2(chrX:168547-30774453)x2	ACE2, ACOT9 +120 more	Copy number gain	not provided	GPathogenic
Select item 2685690	GRCh37/hg19 Xp22.33-11.22(chrX:2696762-53113314)x1	HDAC6, RGN +275 more	Copy number loss	not provided	GPathogenic
Select item 2684971	GRCh37/hg19 Xp22.13-22.11(chrX:18411391-22528403)x3	ADGRG2, BCLAF3 +18 more	Copy number gain	not provided	GUncertain significance
Select item 2673218	NM_000292.3(PHKA2):c.3453G>C (p.Ser1151=)	PHKA2, PHKA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
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 2663069	NM_000292.3(PHKA2):c.2623A>G (p.Lys875Glu)	PHKA2 (K875E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2662534	NM_000292.3(PHKA2):c.2765A>C (p.Gln922Pro)	PHKA2 (Q922P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660117	NM_000292.3(PHKA2):c.382G>A (p.Asp128Asn)	PHKA2 (D128N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660116	NM_000292.3(PHKA2):c.681G>C (p.Val227=)	PHKA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660115	NM_000292.3(PHKA2):c.1138G>A (p.Val380Ile)	PHKA2 (V380I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2660114	NM_000292.3(PHKA2):c.2085C>A (p.Ser695=)	PHKA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660113	NM_000292.3(PHKA2):c.2416CTT[1] (p.Leu807del)	PHKA2 (L807del)	Microsatellite (inframe_deletion)	not provided	GUncertain significance
Select item 2660112	NM_000292.3(PHKA2):c.2442C>T (p.Ala814=)	PHKA2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2660111	NM_000292.3(PHKA2):c.3337-6T>C	PHKA2, PHKA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2660110	NM_000292.3(PHKA2):c.3458C>T (p.Thr1153Met)	PHKA2-AS1, PHKA2 (T1153M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 2637686	NM_000292.3(PHKA2):c.3544A>G (p.Ile1182Val)	PHKA2, PHKA2-AS1 (I1182V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2637188	NM_000292.3(PHKA2):c.1505T>C (p.Ile502Thr)	PHKA2 (I502T)	Single nucleotide variant (missense variant)	PHKA2-related disorder	GUncertain significance
Select item 2635596	NM_000292.3(PHKA2):c.808G>A (p.Val270Met)	PHKA2 (V270M)	Single nucleotide variant (missense variant)	PHKA2-related disorder	GUncertain significance
Select item 2606252	NM_000292.3(PHKA2):c.944C>G (p.Pro315Arg)	PHKA2 (P315R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2598466	NM_000292.3(PHKA2):c.3125C>T (p.Pro1042Leu)	PHKA2 (P1042L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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

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