ClinVar for Gene (Select 9091) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3344517	NM_004204.5(PIGQ):c.*383G>A	PIGQ	Single nucleotide variant (3 prime UTR variant +1 more)	PIGQ-related disorder	GLikely benign
Select item 3341792	NM_004204.5(PIGQ):c.*473C>T	PIGQ	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3341594	NM_004204.5(PIGQ):c.*364A>T	PIGQ (E683V)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 3306508	NM_004204.5(PIGQ):c.1721G>A (p.Arg574Lys)	PIGQ (R574K)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 3306507	NM_004204.5(PIGQ):c.519G>T (p.Glu173Asp)	PIGQ (E173D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3243622	NC_000016.9:g.(?_256302)_(1557737_?)del	TELO2, STUB1 +53 more	Deletion	not provided	GPathogenic
Select item 3243338	NC_000016.9:g.(?_396128)_(1204056_?)dup	ANTKMT, AXIN1 +34 more	Duplication	Idiopathic generalized epilepsy +1 more	GUncertain significance
Select item 3243223	NC_000016.9:g.(?_628765)_(633035_?)dup	PIGQ	Duplication	Epilepsy	GUncertain significance
Select item 3243222	NC_000016.9:g.(?_339420)_(3767509_?)dup	ABCA3, AMDHD2 +142 more	Duplication	Idiopathic generalized epilepsy +2 more	GUncertain significance
Select item 3243221	NC_000016.9:g.(?_624075)_(633035_?)del	PIGQ	Deletion	Epilepsy	GPathogenic
Select item 3239156	NM_004204.5(PIGQ):c.821+74C>T	PIGQ	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 3212819	NM_004204.5(PIGQ):c.983T>C (p.Met328Thr)	PIGQ (M328T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3212818	NM_004204.5(PIGQ):c.1229A>G (p.Tyr410Cys)	PIGQ (Y410C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3054041	NM_004204.5(PIGQ):c.*95T>C	PIGQ	Single nucleotide variant (3 prime UTR variant +1 more)	PIGQ-related disorder	GLikely benign
Select item 3031382	NM_004204.5(PIGQ):c.1134_1143del (p.Ala377_Cys378insTer)	PIGQ	Deletion (nonsense)	PIGQ-related disorder	GLikely pathogenic
Select item 3026937	NM_004204.5(PIGQ):c.420G>A (p.Gln140=)	PIGQ	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3025765	NM_004204.5(PIGQ):c.*81C>T	PIGQ (R589C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 3025650	NM_004204.5(PIGQ):c.1412C>T (p.Thr471Ile)	PIGQ (T471I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3023987	NM_004204.5(PIGQ):c.477G>T (p.Thr159=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 3020559	NM_004204.5(PIGQ):c.1336-20G>A	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 3017525	NM_004204.5(PIGQ):c.645G>T (p.Leu215=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 3014010	NM_004204.5(PIGQ):c.689+13G>A	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 3008372	NM_004204.5(PIGQ):c.255dup (p.Ala86fs)	PIGQ (A86fs)	Duplication (frameshift variant)	Epilepsy	GPathogenic
Select item 2995073	NM_004204.5(PIGQ):c.927C>T (p.Leu309=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2985603	NM_004204.5(PIGQ):c.1740G>A (p.Gln580=)	PIGQ (G560R)	Single nucleotide variant (synonymous variant +1 more)	Epilepsy	GLikely benign
Select item 2976561	NM_004204.5(PIGQ):c.220G>T (p.Glu74Ter)	PIGQ (E74*)	Single nucleotide variant (nonsense)	Epilepsy	GPathogenic
Select item 2960811	NM_004204.5(PIGQ):c.1249C>T (p.Leu417=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2960415	NM_004204.5(PIGQ):c.758G>A (p.Arg253Gln)	PIGQ (R253Q)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2954923	NM_004204.5(PIGQ):c.275C>A (p.Pro92His)	PIGQ (P92H)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2920045	NM_004204.5(PIGQ):c.906C>T (p.Ile302=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2918520	NM_004204.5(PIGQ):c.834G>A (p.Thr278=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2915707	NM_004204.5(PIGQ):c.1557G>A (p.Arg519=)	PIGQ	Single nucleotide variant (synonymous variant +1 more)	Epilepsy	GLikely benign
Select item 2912694	NM_004204.5(PIGQ):c.1491C>T (p.Tyr497=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2910749	NM_004204.5(PIGQ):c.774G>A (p.Thr258=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2901493	NM_004204.5(PIGQ):c.573G>A (p.Trp191Ter)	PIGQ (W191*)	Single nucleotide variant (nonsense)	Epilepsy	GPathogenic
Select item 2899327	NM_004204.5(PIGQ):c.1692G>A (p.Leu564=)	PIGQ (V544I)	Single nucleotide variant (synonymous variant +1 more)	Epilepsy	GLikely benign
Select item 2897202	NM_004204.5(PIGQ):c.286C>T (p.Leu96=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2895438	NM_004204.5(PIGQ):c.690-20T>C	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2890578	NM_004204.5(PIGQ):c.1223+7G>T	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2888240	NM_004204.5(PIGQ):c.1531+12G>A	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2887432	NM_004204.5(PIGQ):c.1069+16G>C	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2882543	NM_004204.5(PIGQ):c.822-11C>T	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2873202	NM_004204.5(PIGQ):c.1069+22del	PIGQ	Deletion (intron variant)	Epilepsy	GBenign
Select item 2854525	NM_004204.5(PIGQ):c.1029G>C (p.Val343=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GUncertain significance
Select item 2854523	NM_004204.5(PIGQ):c.1071C>G (p.Ser357Arg)	PIGQ (S357R)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2849510	NM_004204.5(PIGQ):c.1069+16G>T	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2845834	NM_004204.5(PIGQ):c.1680G>A (p.Leu560=)	PIGQ (V540M)	Single nucleotide variant (synonymous variant +1 more)	Epilepsy	GLikely benign
Select item 2842326	NM_004204.5(PIGQ):c.690-12A>G	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2836753	NM_004204.5(PIGQ):c.1713C>T (p.Tyr571=)	PIGQ (P551S)	Single nucleotide variant (synonymous variant +1 more)	Epilepsy	GLikely benign
Select item 2831080	NM_004204.5(PIGQ):c.223G>T (p.Glu75Ter)	PIGQ (E75*)	Single nucleotide variant (nonsense)	Epilepsy	GPathogenic
Select item 2824837	NM_004204.5(PIGQ):c.967C>T (p.Leu323=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2823849	NM_004204.5(PIGQ):c.444C>G (p.Pro148=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2822796	NM_004204.5(PIGQ):c.1674C>A (p.Gly558=)	PIGQ (R538S)	Single nucleotide variant (synonymous variant +1 more)	Epilepsy	GLikely benign
Select item 2814931	NM_004204.5(PIGQ):c.774G>T (p.Thr258=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2807558	NM_004204.5(PIGQ):c.105C>T (p.Val35=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2802581	NM_004204.5(PIGQ):c.780C>T (p.Ile260=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2802239	NM_004204.5(PIGQ):c.159G>A (p.Arg53=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2801140	NM_004204.5(PIGQ):c.1434C>G (p.Val478=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2762450	NM_004204.5(PIGQ):c.396C>T (p.Asp132=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2759826	NM_004204.5(PIGQ):c.1638C>T (p.Leu546=)	PIGQ (P526S)	Single nucleotide variant (synonymous variant +1 more)	Epilepsy	GLikely benign
Select item 2757276	NM_004204.5(PIGQ):c.1059C>T (p.His353=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2755453	NM_004204.5(PIGQ):c.1593+14T>A	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2752839	NM_004204.5(PIGQ):c.1335+18T>G	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2750949	NM_004204.5(PIGQ):c.1284G>A (p.Lys428=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2750505	NM_004204.5(PIGQ):c.60G>A (p.Val20=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2745223	NM_004204.5(PIGQ):c.1185C>A (p.Leu395=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2741890	NM_004204.5(PIGQ):c.1531+1G>A	PIGQ	Single nucleotide variant (splice donor variant)	Epilepsy	GLikely pathogenic
Select item 2740261	NM_004204.5(PIGQ):c.39G>A (p.Ser13=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2737726	NM_004204.5(PIGQ):c.1176C>T (p.Ile392=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2730451	NM_004204.5(PIGQ):c.195C>A (p.Thr65=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2730046	NM_004204.5(PIGQ):c.1062G>A (p.Leu354=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2723162	NM_004204.5(PIGQ):c.1182C>T (p.Leu394=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2719962	NM_004204.5(PIGQ):c.689+8T>C	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2716448	NM_004204.5(PIGQ):c.1185C>T (p.Leu395=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2715312	NM_004204.5(PIGQ):c.321C>T (p.Cys107=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2715309	NM_004204.5(PIGQ):c.753G>C (p.Arg251=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2714706	NM_004204.5(PIGQ):c.48C>T (p.Ser16=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2708701	NM_004204.5(PIGQ):c.1425C>T (p.Leu475=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2702197	NM_004204.5(PIGQ):c.943-15C>T	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2699198	NM_004204.5(PIGQ):c.1417-12C>A	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2697072	NM_004204.5(PIGQ):c.1335+12G>A	PIGQ	Single nucleotide variant (intron variant)	Epilepsy	GLikely benign
Select item 2694082	NM_004204.5(PIGQ):c.1521C>T (p.Tyr507=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy	GLikely benign
Select item 2685536	GRCh37/hg19 16p13.3(chr16:85881-1657611)x1	PRR35, ANTKMT +65 more	Copy number loss	not provided	GPathogenic
Select item 2645833	NM_004204.5(PIGQ):c.*533C>T	PIGQ	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2645832	NM_004204.5(PIGQ):c.*340G>A	PIGQ (R675H)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2645831	NM_004204.5(PIGQ):c.*339C>T	PIGQ (R675C)	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GUncertain significance
Select item 2645830	NM_004204.5(PIGQ):c.*203C>T	PIGQ	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2645829	NM_004204.5(PIGQ):c.*104G>A	PIGQ	Single nucleotide variant (3 prime UTR variant +1 more)	not provided	GLikely benign
Select item 2645828	NM_004204.5(PIGQ):c.1714C>T (p.Pro572Ser)	PIGQ (P551L +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2645827	NM_004204.5(PIGQ):c.1479C>T (p.Ser493=)	PIGQ	Single nucleotide variant (synonymous variant)	Epilepsy +1 more	GLikely benign
Select item 2645826	NM_004204.5(PIGQ):c.821+58A>G	PIGQ	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2645825	NM_004204.5(PIGQ):c.436G>A (p.Val146Ile)	PIGQ (V146I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2629977	NM_004204.5(PIGQ):c.1215T>G (p.Tyr405Ter)	PIGQ (Y405*)	Single nucleotide variant (nonsense)	PIGQ-related disorder	GLikely pathogenic
Select item 2546216	NM_004204.5(PIGQ):c.937G>A (p.Ala313Thr)	PIGQ (A313T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2434847	NM_004204.5(PIGQ):c.1556G>C (p.Arg519Pro)	PIGQ (R519P)	Single nucleotide variant (missense variant +1 more)	Developmental and epileptic encephalopathy, 77	GUncertain significance
Select item 2434846	NM_004204.5(PIGQ):c.1673del (p.Gly558fs)	PIGQ (G558fs +1 more)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 77	GUncertain significance
Select item 2434845	NM_004204.5(PIGQ):c.1075_1085del (p.Ile359fs)	PIGQ (I359fs)	Deletion (frameshift variant)	Developmental and epileptic encephalopathy, 77	GUncertain significance
Select item 2428471	NM_004204.5(PIGQ):c.1429G>A (p.Val477Met)	PIGQ (V477M)	Single nucleotide variant (missense variant)	Epilepsy	GUncertain significance
Select item 2426664	NC_000016.9:g.(?_256302)_(1843653_?)del	ANTKMT, ARHGDIG +64 more	Deletion	Hyperaldosteronism, familial, type IV +1 more	GUncertain significance
Select item 2426265	NC_000016.9:g.(?_256302)_(1918176_?)del	C1QTNF8, CACNA1H +67 more	Deletion	not provided	GUncertain significance

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