Related gene-specific medical variations for Gene (Select 5256) - ClinVar

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Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3380735	NM_000292.3(PHKA2):c.3626A>T (p.Tyr1209Phe)	PHKA2, PHKA2-AS1 (Y1209F)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
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 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 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 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 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 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 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 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 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 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 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 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 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 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 2574390	NM_000292.3(PHKA2):c.3471C>A (p.Ser1157Arg)	PHKA2, PHKA2-AS1 (S1157R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 2473439	NM_000292.3(PHKA2):c.3348T>G (p.His1116Gln)	PHKA2, PHKA2-AS1 (H1116Q)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GLikely benign
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 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 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 2061054	NM_000292.3(PHKA2):c.3388C>T (p.Arg1130Cys)	PHKA2, PHKA2-AS1 (R1130C)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
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 1809725	NM_000292.3(PHKA2):c.1387C>T (p.Gln463Ter)	PHKA2 (Q463*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1717870	NM_000292.3(PHKA2):c.3516T>G (p.Ser1172Arg)	PHKA2, PHKA2-AS1 (S1172R)	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease IXa1	GUncertain significance
Select item 1587403	NM_000292.3(PHKA2):c.3567G>A (p.Glu1189=)	PHKA2, PHKA2-AS1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXa1	GLikely benign
Select item 1562024	NM_000292.3(PHKA2):c.3690G>C (p.Ser1230=)	PHKA2, PHKA2-AS1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXa1	GLikely benign
Select item 1324893	NM_000292.3(PHKA2):c.3645_3646dup (p.Thr1216fs)	PHKA2, PHKA2-AS1 (T1216fs)	Duplication (frameshift variant)	Glycogen storage disease IXa1	GConflicting classifications of pathogenicity
Select item 1321359	NM_000292.3(PHKA2):c.3601T>C (p.Tyr1201His)	PHKA2, PHKA2-AS1 (Y1201H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1319462	NM_000292.3(PHKA2):c.1460G>A (p.Gly487Glu)	PHKA2 (G487E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1319461	NM_000292.3(PHKA2):c.2272G>A (p.Val758Met)	PHKA2 (V758M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1299271	NM_000292.3(PHKA2):c.3443C>T (p.Thr1148Met)	PHKA2, PHKA2-AS1 (T1148M)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1123055	NM_000292.3(PHKA2):c.3492G>T (p.Val1164=)	PHKA2, PHKA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease IXa1	GLikely benign
Select item 1062162	NM_000292.3(PHKA2):c.3491T>A (p.Val1164Glu)	PHKA2, PHKA2-AS1 (V1164E)	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease IXa1	GUncertain significance
Select item 1028673	NM_000292.3(PHKA2):c.3529C>T (p.Gln1177Ter)	PHKA2, PHKA2-AS1 (Q1177*)	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease IXa1	GPathogenic
Select item 1005292	NM_000292.3(PHKA2):c.3356A>G (p.Lys1119Arg)	PHKA2, PHKA2-AS1 (K1119R)	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease IXa1	GUncertain significance
Select item 943259	NM_000292.3(PHKA2):c.3708G>C (p.Ter1236Tyr)	PHKA2, PHKA2-AS1	Single nucleotide variant (stop lost)	Glycogen storage disease IXa1	GUncertain significance
Select item 940284	NM_000292.3(PHKA2):c.3424_3425insT (p.Glu1142fs)	PHKA2, PHKA2-AS1 (E1142fs)	Insertion (non-coding transcript variant +1 more)	Glycogen storage disease IXa1	GPathogenic
Select item 930538	NM_000292.3(PHKA2):c.2848G>A (p.Asp950Asn)	PHKA2 (D950N)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 858405	NM_000292.3(PHKA2):c.3371_3377dup (p.Val1127fs)	PHKA2, PHKA2-AS1 (V1127fs)	Duplication (non-coding transcript variant +1 more)	Glycogen storage disease IXa1	GPathogenic
Select item 845671	NM_000292.3(PHKA2):c.3377C>A (p.Ser1126Ter)	PHKA2, PHKA2-AS1 (S1126*)	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease IXa1	GPathogenic
Select item 841087	NM_000292.3(PHKA2):c.3644_3646dup (p.Leu1215_Thr1216insIle)	PHKA2, PHKA2-AS1	Duplication (inframe_insertion)	Glycogen storage disease IXa1	GLikely pathogenic
Select item 810525	NM_000292.3(PHKA2):c.875G>A (p.Gly292Glu)	PHKA2 (G292E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 803725	NM_000292.3(PHKA2):c.3397C>T (p.Gln1133Ter)	PHKA2, PHKA2-AS1 (Q1133*)	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease IXa1	GPathogenic
Select item 746664	NM_000292.3(PHKA2):c.3522G>A (p.Leu1174=)	PHKA2, PHKA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 740335	NM_000292.3(PHKA2):c.3444G>A (p.Thr1148=)	PHKA2, PHKA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GLikely benign
Select item 694641	NM_000292.3(PHKA2):c.718-2A>G	PHKA2	Single nucleotide variant (splice acceptor variant)	Glycogen storage disease IXa1	GPathogenic
Select item 694640	NM_000292.3(PHKA2):c.1245G>T (p.Glu415Asp)	PHKA2 (E415D)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GLikely pathogenic
Select item 694639	NM_000292.3(PHKA2):c.405_419delinsTCCTGGCC (p.Asp136fs)	PHKA2 (D136fs)	Indel (frameshift variant)	Glycogen storage disease IXa1	GLikely pathogenic
Select item 694637	NM_000292.3(PHKA2):c.3628G>A (p.Gly1210Arg)	PHKA2, PHKA2-AS1 (G1210R)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GUncertain significance
Select item 694636	NM_000292.3(PHKA2):c.2268dup (p.Asp757Ter)	PHKA2 (D757*)	Duplication (nonsense)	Glycogen storage disease IXa1	GPathogenic
Select item 664908	NM_000292.3(PHKA2):c.3629G>A (p.Gly1210Glu)	PHKA2, PHKA2-AS1 (G1210E)	Single nucleotide variant (missense variant)	Glycogen storage disease IXa1	GPathogenic/Likely pathogenic
Select item 634545	NM_000292.3(PHKA2):c.3590G>T (p.Cys1197Phe)	PHKA2, PHKA2-AS1 (C1197F)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance
Select item 624390	NM_000292.3(PHKA2):c.1325-2A>G	PHKA2	Single nucleotide variant (splice acceptor variant)	not provided	GLikely pathogenic
Select item 515896	NM_000292.3(PHKA2):c.3615G>A (p.Pro1205=)	PHKA2, PHKA2-AS1	Single nucleotide variant (synonymous variant)	not specified +1 more	GLikely benign
Select item 507443	NM_000292.3(PHKA2):c.3509T>C (p.Met1170Thr)	PHKA2, PHKA2-AS1 (M1170T)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +3 more	GBenign/Likely benign
Select item 501003	NM_000292.3(PHKA2):c.3373G>A (p.Glu1125Lys)	PHKA2, PHKA2-AS1 (E1125K)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 420714	NM_000292.3(PHKA2):c.3599_3601del (p.Phe1200del)	PHKA2, PHKA2-AS1 (F1200del)	Deletion (inframe_deletion)	not provided	GLikely pathogenic
Select item 385816	NM_000292.3(PHKA2):c.3345G>A (p.Pro1115=)	PHKA2, PHKA2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GLikely benign
Select item 255777	NM_000292.3(PHKA2):c.3705A>G (p.Gln1235=)	PHKA2, PHKA2-AS1	Single nucleotide variant (synonymous variant)	Glycogen storage disease IXa1 +2 more	GBenign
Select item 255776	NM_000292.3(PHKA2):c.3027+48C>A	PHKA2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 255775	NM_000292.3(PHKA2):c.2807-46G>A	PHKA2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 255769	NM_000292.3(PHKA2):c.1758T>C (p.Ile586=)	PHKA2	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 208738	NM_000292.3(PHKA2):c.3383T>C (p.Leu1128Pro)	PHKA2, PHKA2-AS1 (L1128P)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 10533	NM_000292.3(PHKA2):c.3341C>T (p.Thr1114Ile)	PHKA2, PHKA2-AS1 (T1114I)	Single nucleotide variant (non-coding transcript variant +1 more)	Glycogen storage disease IXa1	GLikely pathogenic
Select item 10531	NM_000292.3(PHKA2):c.3614C>T (p.Pro1205Leu)	PHKA2, PHKA2-AS1 (P1205L)	Single nucleotide variant (missense variant)	not provided +1 more	GPathogenic

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Links from Gene

Items: 74