ClinVar for MedGen (Select 766202) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3244670	NC_000011.9:g.(?_20617213)_(20623070_?)del	SLC6A5	Deletion	Hyperekplexia 3	GPathogenic
Select item 3244669	NC_000011.9:g.(?_20621219)_(20676414_?)dup	SLC6A5	Duplication	Hyperekplexia 3	GUncertain significance
Select item 3244668	NC_000011.9:g.(?_20625977)_(20687645_?)del	SLC6A5	Deletion	Hyperekplexia 3	GPathogenic
Select item 3244667	NC_000011.9:g.(?_20621219)_(20625990_?)del	SLC6A5	Deletion	Hyperekplexia 3	GPathogenic
Select item 3065646	NM_004211.5(SLC6A5):c.811+1G>A	SLC6A5	Single nucleotide variant (splice donor variant)	Hyperekplexia 3	GLikely pathogenic
Select item 3065421	NM_004211.5(SLC6A5):c.784G>C (p.Val262Leu)	SLC6A5 (V262L +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3	GUncertain significance
Select item 3065028	NM_004211.5(SLC6A5):c.2076_2077insAA (p.Leu693fs)	SLC6A5 (L459fs +1 more)	Insertion (frameshift variant)	Hyperekplexia 3	GLikely pathogenic
Select item 3023648	NM_004211.5(SLC6A5):c.2367G>A (p.Lys789=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 3021112	NM_004211.5(SLC6A5):c.540+20G>A	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 3018808	NM_004211.5(SLC6A5):c.777A>T (p.Pro259=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 3018001	NM_004211.5(SLC6A5):c.1311C>T (p.Leu437=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 3016580	NM_004211.5(SLC6A5):c.1245C>T (p.Ile415=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 3014784	NM_004211.5(SLC6A5):c.679+13C>T	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 3013523	NM_004211.5(SLC6A5):c.1500-16G>T	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 3010970	NM_004211.5(SLC6A5):c.1970-4G>T	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 3009557	NM_004211.5(SLC6A5):c.1625-10T>G	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 3007800	NM_004211.5(SLC6A5):c.812-20T>C	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 3002856	NM_004211.5(SLC6A5):c.4-12T>C	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 3000699	NM_004211.5(SLC6A5):c.306C>T (p.Gly102=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 2996455	NM_004211.5(SLC6A5):c.1396-6T>C	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2991866	NM_004211.5(SLC6A5):c.1680_1681del (p.Pro561fs)	SLC6A5 (P561fs +1 more)	Microsatellite (frameshift variant)	Hyperekplexia 3	GPathogenic
Select item 2988852	NM_004211.5(SLC6A5):c.985+16C>G	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2979451	NM_004211.5(SLC6A5):c.1395+16del	SLC6A5	Deletion (intron variant)	Hyperekplexia 3	GBenign
Select item 2974440	NM_004211.5(SLC6A5):c.1905T>C (p.Tyr635=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 2967586	NM_004211.5(SLC6A5):c.1563C>T (p.Phe521=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 2965319	NM_004211.5(SLC6A5):c.1625-9T>C	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2955964	NM_004211.5(SLC6A5):c.680-16C>T	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2920508	NM_004211.5(SLC6A5):c.1469C>T (p.Ser490Phe)	SLC6A5 (S490F +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3	GUncertain significance
Select item 2918573	NM_004211.5(SLC6A5):c.2293C>A (p.His765Asn)	SLC6A5 (H765N +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3 +1 more	GConflicting classifications of pathogenicity
Select item 2915993	NM_004211.5(SLC6A5):c.1335A>T (p.Gly445=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 2909602	NM_004211.5(SLC6A5):c.1261-9C>T	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2909571	NM_004211.5(SLC6A5):c.691A>G (p.Ile231Val)	SLC6A5 (I231V)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 2908658	NM_004211.5(SLC6A5):c.1731C>T (p.Asp577=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 2889702	NM_004211.5(SLC6A5):c.450C>G (p.Gly150=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 2889678	NM_004211.5(SLC6A5):c.680-11C>A	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2886184	NM_004211.5(SLC6A5):c.2071-7T>C	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2886087	NM_004211.5(SLC6A5):c.1127+19T>C	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2884200	NM_004211.5(SLC6A5):c.528C>A (p.Thr176=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 2881046	NM_004211.5(SLC6A5):c.1396-13T>A	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2879781	NM_004211.5(SLC6A5):c.1023C>T (p.Ile341=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 2879663	NM_004211.5(SLC6A5):c.264G>A (p.Gln88=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 2872514	NM_004211.5(SLC6A5):c.283C>A (p.Arg95=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 2866467	NM_004211.5(SLC6A5):c.2071-11T>C	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2865470	NM_004211.5(SLC6A5):c.680-2A>G	SLC6A5	Single nucleotide variant (splice acceptor variant)	Hyperekplexia 3	GLikely pathogenic
Select item 2862952	NM_004211.5(SLC6A5):c.387G>A (p.Glu129=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 2862893	NM_004211.5(SLC6A5):c.876C>T (p.Cys292=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 2861932	NM_004211.5(SLC6A5):c.2070+2T>G	SLC6A5	Single nucleotide variant (splice donor variant)	Hyperekplexia 3	GLikely pathogenic
Select item 2860827	NM_004211.5(SLC6A5):c.1185A>T (p.Pro395=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 2858966	NM_004211.5(SLC6A5):c.31A>T (p.Lys11Ter)	SLC6A5 (K11*)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GPathogenic
Select item 2857911	NM_004211.5(SLC6A5):c.699C>T (p.Tyr233=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 2852412	NM_004211.5(SLC6A5):c.927C>G (p.Gly309=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 2842641	NM_004211.5(SLC6A5):c.504C>G (p.Ser168=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 2840970	NM_004211.5(SLC6A5):c.1035T>G (p.Thr345=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 2833357	NM_004211.5(SLC6A5):c.1396-7C>A	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2832867	NM_004211.5(SLC6A5):c.630G>T (p.Gly210=)	SLC6A5	Single nucleotide variant (synonymous variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 2831744	NM_004211.5(SLC6A5):c.1624+7G>A	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2830876	NM_004211.5(SLC6A5):c.573A>T (p.Arg191=)	SLC6A5	Single nucleotide variant (synonymous variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 2818199	NM_004211.5(SLC6A5):c.330G>A (p.Gly110=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 2816539	NM_004211.5(SLC6A5):c.2151C>G (p.Leu717=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 2812897	NM_004211.5(SLC6A5):c.1869+16G>A	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2812630	NM_004211.5(SLC6A5):c.1396-19T>A	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2807532	NM_004211.5(SLC6A5):c.4-8_4-7insCTC	SLC6A5	Insertion (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2803563	NM_004211.5(SLC6A5):c.1137G>T (p.Val379=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 2790143	NM_004211.5(SLC6A5):c.3+15T>C	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2782850	NM_004211.5(SLC6A5):c.1659C>T (p.Ala553=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 2771222	NM_004211.5(SLC6A5):c.812-18G>A	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2767760	NM_004211.5(SLC6A5):c.985+14T>C	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2763202	NM_004211.5(SLC6A5):c.72C>T (p.Gly24=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 2762666	NM_004211.5(SLC6A5):c.1620C>T (p.Asp540=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 2762508	NM_004211.5(SLC6A5):c.840T>C (p.Ser280=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 2753276	NM_004211.5(SLC6A5):c.1920C>T (p.Ala640=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 2745695	NM_004211.5(SLC6A5):c.1395+16T>C	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2729890	NM_004211.5(SLC6A5):c.501G>A (p.Thr167=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 2729737	NM_004211.5(SLC6A5):c.1870-18G>T	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2727809	NM_004211.5(SLC6A5):c.1869+9C>T	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2722763	NM_004211.5(SLC6A5):c.1971C>G (p.Gly657=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 2718832	NM_004211.5(SLC6A5):c.4-13A>C	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2714968	NM_004211.5(SLC6A5):c.541-3dup	SLC6A5	Duplication (intron variant)	Hyperekplexia 3	GBenign
Select item 2698239	NM_004211.5(SLC6A5):c.318G>C (p.Ser106=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 2692920	NM_004211.5(SLC6A5):c.805C>T (p.Leu269=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 2584909	NM_004211.5(SLC6A5):c.2039G>A (p.Cys680Tyr)	SLC6A5 (C680Y +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3	GUncertain significance
Select item 2498225	NM_004211.5(SLC6A5):c.975del (p.Lys325fs)	SLC6A5 (K325fs +1 more)	Deletion (frameshift variant)	Hyperekplexia 3	GLikely pathogenic
Select item 2441905	NM_004211.5(SLC6A5):c.1436_1737+314del	SLC6A5	Deletion (splice acceptor variant +1 more)	Hyperekplexia 3	GLikely pathogenic
Select item 2436071	NM_004211.5(SLC6A5):c.1967A>C (p.Tyr656Ser)	SLC6A5 (Y422S +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3	GUncertain significance
Select item 2436070	NM_004211.5(SLC6A5):c.863A>G (p.Asn288Ser)	SLC6A5 (N288S +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3	GUncertain significance
Select item 2425045	NC_000011.9:g.(?_20612464)_(20622873_?)del	SLC6A5	Deletion	Hyperekplexia 3	GPathogenic
Select item 2425044	NC_000011.9:g.(?_20648234)_(20676414_?)dup	SLC6A5	Duplication	Hyperekplexia 3	GUncertain significance
Select item 2425043	NC_000011.9:g.(?_20668360)_(20668500_?)dup	SLC6A5	Duplication	Hyperekplexia 3	GLikely pathogenic
Select item 2421685	NM_004211.5(SLC6A5):c.1792C>T (p.Leu598=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 2419821	NM_004211.5(SLC6A5):c.1452C>G (p.Gly484=)	SLC6A5	Single nucleotide variant (synonymous variant)	Hyperekplexia 3	GLikely benign
Select item 2418989	NM_004211.5(SLC6A5):c.1870-5G>A	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GLikely benign
Select item 2418720	NM_004211.5(SLC6A5):c.1250C>T (p.Thr417Ile)	SLC6A5 (T183I +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3	GUncertain significance
Select item 2414255	NM_004211.5(SLC6A5):c.1945C>A (p.Leu649Ile)	SLC6A5 (L415I +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3	GUncertain significance
Select item 2396482	NM_004211.5(SLC6A5):c.668A>G (p.Gln223Arg)	SLC6A5 (Q223R)	Single nucleotide variant (missense variant +1 more)	Hyperekplexia 3 +1 more	GConflicting classifications of pathogenicity
Select item 2201112	NM_004211.5(SLC6A5):c.1901C>T (p.Thr634Ile)	SLC6A5 (T400I +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3	GUncertain significance
Select item 2199971	NM_004211.5(SLC6A5):c.1294G>A (p.Val432Ile)	SLC6A5 (V198I +1 more)	Single nucleotide variant (missense variant)	Hyperekplexia 3	GUncertain significance
Select item 2199887	NM_004211.5(SLC6A5):c.317C>T (p.Ser106Leu)	SLC6A5 (S106L)	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GUncertain significance
Select item 2197174	NM_004211.5(SLC6A5):c.1624+5A>G	SLC6A5	Single nucleotide variant (intron variant)	Hyperekplexia 3	GUncertain significance
Select item 2190546	NM_004211.5(SLC6A5):c.144G>C (p.Pro48=)	SLC6A5	Single nucleotide variant (5 prime UTR variant +1 more)	Hyperekplexia 3	GLikely benign
Select item 2188424	NM_004211.5(SLC6A5):c.1801C>T (p.His601Tyr)	SLC6A5 (H367Y +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GUncertain significance

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