ClinVar for MedGen (Select 332019) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3023500	NM_000171.4(GLRA1):c.720C>T (p.Ala240=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia	GLikely benign
Select item 3020905	NM_000171.4(GLRA1):c.807C>T (p.Ser269=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia	GLikely benign
Select item 3019359	NM_000171.4(GLRA1):c.991_1000del (p.Ala331fs)	GLRA1 (A331fs +1 more)	Deletion (frameshift variant)	Hereditary hyperekplexia	GPathogenic
Select item 3013590	NM_000171.4(GLRA1):c.415del (p.Ile139fs)	GLRA1 (I56fs +1 more)	Deletion (frameshift variant)	Hereditary hyperekplexia	GPathogenic
Select item 3002261	NM_000171.4(GLRA1):c.1341C>A (p.His447Gln)	GLRA1 (H447Q +2 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2996903	NM_000171.4(GLRA1):c.621A>C (p.Ala207=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia	GLikely benign
Select item 2965328	NM_000171.4(GLRA1):c.435G>A (p.Leu145=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia	GLikely benign
Select item 2919460	NM_000171.4(GLRA1):c.1262T>C (p.Ile421Thr)	GLRA1 (I421T +2 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2912018	NM_000171.4(GLRA1):c.278G>A (p.Arg93Gln)	GLRA1 (R93Q +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2908649	NM_000171.4(GLRA1):c.951T>G (p.Val317=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia	GLikely benign
Select item 2904264	NM_000171.4(GLRA1):c.1229A>C (p.Gln410Pro)	GLRA1 (Q418P +2 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2896504	NM_000171.4(GLRA1):c.1124A>T (p.Gln375Leu)	GLRA1 (Q375L +2 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2888199	NM_000171.4(GLRA1):c.559+19T>C	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia	GLikely benign
Select item 2876038	NM_000171.4(GLRA1):c.559+6T>A	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2873773	NM_000171.4(GLRA1):c.697+2T>A	GLRA1	Single nucleotide variant (splice donor variant)	Hereditary hyperekplexia	GLikely pathogenic
Select item 2869173	NM_000171.4(GLRA1):c.981A>T (p.Leu327Phe)	GLRA1 (L327F +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2864957	NM_000171.4(GLRA1):c.827C>A (p.Ala276Asp)	GLRA1 (A276D +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2861881	NM_000171.4(GLRA1):c.184+6G>C	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2852945	NM_000171.4(GLRA1):c.680_681delinsAA (p.Thr227Lys)	GLRA1 (T227K +1 more)	Indel (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2850498	NM_000171.4(GLRA1):c.365G>A (p.Trp122Ter)	GLRA1 (W122* +1 more)	Single nucleotide variant (nonsense)	Hereditary hyperekplexia	GPathogenic
Select item 2845872	NM_000171.4(GLRA1):c.405C>A (p.His135Gln)	GLRA1 (H135Q +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2845018	NM_000171.4(GLRA1):c.57-16CT[2]	GLRA1	Microsatellite (intron variant)	Hereditary hyperekplexia	GLikely benign
Select item 2843026	NM_000171.4(GLRA1):c.129T>G (p.Asp43Glu)	GLRA1 (D43E)	Single nucleotide variant (missense variant +1 more)	Hereditary hyperekplexia	GUncertain significance
Select item 2835044	NM_000171.4(GLRA1):c.1054C>G (p.His352Asp)	GLRA1 (H269D +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2833686	NM_000171.4(GLRA1):c.41C>T (p.Thr14Ile)	GLRA1 (T14I)	Single nucleotide variant (missense variant +1 more)	Hereditary hyperekplexia	GUncertain significance
Select item 2831333	NM_000171.4(GLRA1):c.335A>C (p.Asp112Ala)	GLRA1 (D112A +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2828261	NM_000171.4(GLRA1):c.360C>A (p.Ser120=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia	GLikely benign
Select item 2827772	NM_000171.4(GLRA1):c.35G>C (p.Trp12Ser)	GLRA1 (W12S)	Single nucleotide variant (missense variant +1 more)	Hereditary hyperekplexia	GUncertain significance
Select item 2819605	NM_000171.4(GLRA1):c.103C>G (p.Pro35Ala)	GLRA1 (P35A)	Single nucleotide variant (missense variant +1 more)	Hereditary hyperekplexia	GUncertain significance
Select item 2818770	NM_000171.4(GLRA1):c.624T>C (p.Asp208=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia	GLikely benign
Select item 2814957	NM_000171.4(GLRA1):c.879C>G (p.Thr293=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia	GLikely benign
Select item 2813794	NM_000171.4(GLRA1):c.912+12T>C	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia	GLikely benign
Select item 2813653	NM_000171.4(GLRA1):c.559+18G>C	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia	GLikely benign
Select item 2808203	NM_000171.4(GLRA1):c.943A>T (p.Met315Leu)	GLRA1 (M232L +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2808090	NM_000171.4(GLRA1):c.99C>A (p.Pro33=)	GLRA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary hyperekplexia	GLikely benign
Select item 2805323	NM_000171.4(GLRA1):c.204C>T (p.Ser68=)	GLRA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary hyperekplexia	GLikely benign
Select item 2802848	NM_000171.4(GLRA1):c.560-16T>C	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia	GLikely benign
Select item 2800421	NM_000171.4(GLRA1):c.1059+1G>A	GLRA1	Single nucleotide variant (splice donor variant)	Hereditary hyperekplexia	GPathogenic
Select item 2794838	NM_000171.4(GLRA1):c.913-19T>G	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia	GLikely benign
Select item 2785839	NM_000171.4(GLRA1):c.253-9T>C	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia	GLikely benign
Select item 2778873	NM_000171.4(GLRA1):c.99dup (p.Lys34fs)	GLRA1 (K34fs)	Duplication (frameshift variant +1 more)	Hereditary hyperekplexia	GPathogenic
Select item 2765675	NM_000171.4(GLRA1):c.1154C>T (p.Ala385Val)	GLRA1 (A302V +2 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2764256	NM_000171.4(GLRA1):c.311A>G (p.Asn104Ser)	GLRA1 (N104S +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2756322	NM_000171.4(GLRA1):c.725del (p.Phe242fs)	GLRA1 (F159fs +1 more)	Deletion (frameshift variant)	Hereditary hyperekplexia	GPathogenic
Select item 2755249	NM_000171.4(GLRA1):c.253-8G>C	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia	GLikely benign
Select item 2748397	NM_000171.4(GLRA1):c.162C>T (p.Ala54=)	GLRA1	Single nucleotide variant (synonymous variant +1 more)	Hereditary hyperekplexia	GLikely benign
Select item 2739465	NM_000171.4(GLRA1):c.184+11T>G	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia	GLikely benign
Select item 2734809	NM_000171.4(GLRA1):c.772C>T (p.Pro258Ser)	GLRA1 (P258S +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2734067	NM_000171.4(GLRA1):c.697+17C>T	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia	GLikely benign
Select item 2729828	NM_000171.4(GLRA1):c.719C>T (p.Ala240Val)	GLRA1 (A240V +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2729706	NM_000171.4(GLRA1):c.185-7T>C	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia	GLikely benign
Select item 2724696	NM_000171.4(GLRA1):c.490C>T (p.Leu164=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia	GLikely benign
Select item 2723494	NM_000171.4(GLRA1):c.1273A>G (p.Met425Val)	GLRA1 (M425V +2 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2720613	NM_000171.4(GLRA1):c.1016A>G (p.His339Arg)	GLRA1 (H339R +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2720591	NM_000171.4(GLRA1):c.476+20A>G	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia	GLikely benign
Select item 2718538	NM_000171.4(GLRA1):c.184+4G>A	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia +1 more	GConflicting classifications of pathogenicity
Select item 2717704	NM_000171.4(GLRA1):c.1060-20C>T	GLRA1 (P355L)	Single nucleotide variant (missense variant +1 more)	Hereditary hyperekplexia	GLikely benign
Select item 2713697	NM_000171.4(GLRA1):c.476+6T>A	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2709499	NM_000171.4(GLRA1):c.560-9C>T	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia	GLikely benign
Select item 2708040	NM_000171.4(GLRA1):c.801G>T (p.Trp267Cys)	GLRA1 (W184C +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2706357	NM_000171.4(GLRA1):c.1316A>G (p.Lys439Arg)	GLRA1 (K447R +2 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2702475	NM_000171.4(GLRA1):c.528T>A (p.Asp176Glu)	GLRA1 (D93E +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2701248	NM_000171.4(GLRA1):c.2T>G (p.Met1Arg)	GLRA1 (M1R)	Single nucleotide variant (missense variant +2 more)	Hereditary hyperekplexia	GUncertain significance
Select item 2697202	NM_000171.4(GLRA1):c.1207G>C (p.Glu403Gln)	GLRA1 (E411Q +2 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2692700	NM_000171.4(GLRA1):c.589G>A (p.Glu197Lys)	GLRA1 (E197K +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2637835	NM_000171.4(GLRA1):c.477-13C>T	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia +1 more	GLikely benign
Select item 2632588	NM_000171.4(GLRA1):c.536C>A (p.Thr179Lys)	GLRA1 (T179K +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia +1 more	GUncertain significance
Select item 2574984	NM_000171.4(GLRA1):c.578A>T (p.Asp193Val)	GLRA1 (D110V +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia +1 more	GUncertain significance
Select item 2500615	NM_000171.4(GLRA1):c.913-1G>A	GLRA1	Single nucleotide variant (splice acceptor variant)	Hereditary hyperekplexia +1 more	GLikely pathogenic
Select item 2422536	NC_000005.9:g.(?_151271852)_(151304110_?)dup	GLRA1	Duplication	Hereditary hyperekplexia	GUncertain significance
Select item 2422535	NC_000005.9:g.(?_151304035)_(151304110_?)del	GLRA1	Deletion	Hereditary hyperekplexia	GPathogenic
Select item 2422534	NC_000005.9:g.(?_151230931)_(151304110_?)del	GLRA1	Deletion	Hereditary hyperekplexia	GPathogenic
Select item 2202639	NM_000171.4(GLRA1):c.1059+7C>A	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia	GLikely benign
Select item 2201760	NM_000171.4(GLRA1):c.699T>A (p.Gly233=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia	GLikely benign
Select item 2198389	NM_000171.4(GLRA1):c.1226T>A (p.Ile409Asn)	GLRA1 (I417N +2 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia +1 more	GUncertain significance
Select item 2198106	NM_000171.4(GLRA1):c.1240A>C (p.Lys414Gln)	GLRA1 (K331Q +2 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2198105	NM_000171.4(GLRA1):c.1321G>A (p.Val441Ile)	GLRA1 (V441I +2 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2196359	NM_000171.4(GLRA1):c.298C>T (p.Arg100Cys)	GLRA1 (R100C +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GPathogenic
Select item 2196274	NM_000171.4(GLRA1):c.1336G>A (p.Val446Ile)	GLRA1 (V363I +2 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2187721	NM_000171.4(GLRA1):c.1157ACA[1] (p.Asn387del)	GLRA1 (N304del +2 more)	Microsatellite (inframe_deletion)	Hereditary hyperekplexia	GUncertain significance
Select item 2168836	NM_000171.4(GLRA1):c.953G>T (p.Cys318Phe)	GLRA1 (C235F +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2167342	NM_000171.4(GLRA1):c.843G>A (p.Val281=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia	GLikely benign
Select item 2163078	NM_000171.4(GLRA1):c.252+17A>G	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia	GLikely benign
Select item 2162119	NM_000171.4(GLRA1):c.537dup (p.Cys180fs)	GLRA1 (C97fs +1 more)	Duplication (frameshift variant)	Hereditary hyperekplexia	GPathogenic
Select item 2159870	NM_000171.4(GLRA1):c.291C>T (p.Asn97=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia	GLikely benign
Select item 2157650	NM_000171.4(GLRA1):c.57-14C>G	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia	GLikely benign
Select item 2149802	NM_000171.4(GLRA1):c.274C>T (p.Leu92=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia	GLikely benign
Select item 2148500	NM_000171.4(GLRA1):c.913-16del	GLRA1	Deletion (intron variant)	Hereditary hyperekplexia	GLikely benign
Select item 2147844	NM_000171.4(GLRA1):c.184+1G>A	GLRA1	Single nucleotide variant (splice donor variant +1 more)	Hereditary hyperekplexia	GLikely pathogenic
Select item 2147406	NM_000171.4(GLRA1):c.932T>C (p.Ile311Thr)	GLRA1 (I311T +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2140630	NM_000171.4(GLRA1):c.912+11T>C	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia	GLikely benign
Select item 2136350	NM_000171.4(GLRA1):c.278G>T (p.Arg93Leu)	GLRA1 (R93L +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GPathogenic
Select item 2122883	NM_000171.4(GLRA1):c.564A>G (p.Gly188=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia	GLikely benign
Select item 2122017	NM_000171.4(GLRA1):c.40A>G (p.Thr14Ala)	GLRA1 (T14A)	Single nucleotide variant (missense variant +1 more)	Hereditary hyperekplexia	GUncertain significance
Select item 2122016	NM_000171.4(GLRA1):c.1073G>A (p.Gly358Glu)	GLRA1 (G366E +2 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2119497	NM_000171.4(GLRA1):c.1001T>C (p.Phe334Ser)	GLRA1 (F251S +1 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2094630	NM_000171.4(GLRA1):c.185-15T>C	GLRA1	Single nucleotide variant (intron variant)	Hereditary hyperekplexia	GLikely benign
Select item 2092073	NM_000171.4(GLRA1):c.1176C>T (p.Asn392=)	GLRA1	Single nucleotide variant (synonymous variant)	Hereditary hyperekplexia	GLikely benign
Select item 2090091	NM_000171.4(GLRA1):c.1218A>C (p.Lys406Asn)	GLRA1 (K323N +2 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance
Select item 2090079	NM_000171.4(GLRA1):c.1313A>G (p.Tyr438Cys)	GLRA1 (Y438C +2 more)	Single nucleotide variant (missense variant)	Hereditary hyperekplexia	GUncertain significance

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