ClinVar for Gene (Select 127833) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3383672	NM_177402.5(SYT2):c.114G>C (p.Glu38Asp)	SYT2 (E38D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3366449	NM_177402.5(SYT2):c.178+15T>G	SYT2	Single nucleotide variant (intron variant)	not specified	GLikely benign
Select item 3363319	NM_177402.5(SYT2):c.935T>C (p.Ile312Thr)	SYT2 (I312T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3324038	NM_177402.5(SYT2):c.43C>T (p.Pro15Ser)	SYT2 (P15S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3253114	NM_177402.5(SYT2):c.956A>G (p.Lys319Arg)	SYT2 (K319R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3248093	NC_000001.10:g.(?_190829412)_(216061974_?)del	RPS6KC1, SERTAD4 +185 more	Deletion	not provided	GPathogenic
Select item 3248032	NC_000001.10:g.(?_202565885)_(202566111_?)dup	SYT2	Duplication	not provided	GUncertain significance
Select item 3234484	NM_177402.5(SYT2):c.373A>C (p.Thr125Pro)	SYT2 (T125P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3173004	NM_177402.5(SYT2):c.793A>G (p.Lys265Glu)	SYT2 (K265E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173003	NM_177402.5(SYT2):c.304A>T (p.Met102Leu)	SYT2 (M102L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3173002	NM_177402.5(SYT2):c.1234G>A (p.Asp412Asn)	SYT2 (D412N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3064703	NM_177402.5(SYT2):c.548_549delinsGGA (p.Leu183fs)	SYT2 (L183fs)	Indel (frameshift variant)	Congenital myasthenic syndrome 7	GLikely pathogenic
Select item 3062955	GRCh37/hg19 1q32.1(chr1:199373229-204335027)x3	ADIPOR1, ADORA1 +58 more	Copy number gain	not specified	GLikely pathogenic
Select item 3062655	GRCh37/hg19 1q31.3-32.1(chr1:197216705-203683110)x1	ADIPOR1, ADORA1 +57 more	Copy number loss	not specified	GLikely pathogenic
Select item 3012212	NM_177402.5(SYT2):c.69C>T (p.Pro23=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3007633	NM_177402.5(SYT2):c.343C>G (p.Gln115Glu)	SYT2 (Q115E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3007191	NM_177402.5(SYT2):c.637C>A (p.Pro213Thr)	SYT2 (P213T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2996435	NM_177402.5(SYT2):c.466-14A>C	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2985381	NM_177402.5(SYT2):c.1215C>G (p.Leu405=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2985019	NM_177402.5(SYT2):c.282C>G (p.Asn94Lys)	SYT2 (N94K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2983127	NM_177402.5(SYT2):c.692G>A (p.Arg231His)	SYT2 (R231H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2981636	NM_177402.5(SYT2):c.1054-13G>A	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981614	NM_177402.5(SYT2):c.78C>T (p.Pro26=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2977355	NM_177402.5(SYT2):c.466-13TC[2]	SYT2	Microsatellite (intron variant)	not provided	GUncertain significance
Select item 2974025	NM_177402.5(SYT2):c.711C>A (p.Ile237=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2973791	NM_177402.5(SYT2):c.653G>C (p.Gly218Ala)	SYT2 (G218A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2973230	NM_177402.5(SYT2):c.801+5G>A	SYT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2971082	NM_177402.5(SYT2):c.560A>G (p.Lys187Arg)	SYT2 (K187R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2966759	NM_177402.5(SYT2):c.465+13G>A	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2963849	NM_177402.5(SYT2):c.1054-15T>G	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2954946	NM_177402.5(SYT2):c.997C>T (p.Leu333=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2878528	NM_177402.5(SYT2):c.949A>C (p.Asn317His)	SYT2 (N317H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2876049	NM_177402.5(SYT2):c.966G>A (p.Lys322=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2874652	NM_177402.5(SYT2):c.1054-18C>T	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2871464	NM_177402.5(SYT2):c.483G>T (p.Leu161=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2867435	NM_177402.5(SYT2):c.103G>A (p.Gly35Ser)	SYT2 (G35S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2856684	NM_177402.5(SYT2):c.131T>C (p.Phe44Ser)	SYT2 (F44S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2855739	NM_177402.5(SYT2):c.920-10C>T	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2847926	NM_177402.5(SYT2):c.224T>A (p.Leu75Gln)	SYT2 (L75Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2846650	NM_177402.5(SYT2):c.45T>G (p.Pro15=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2827348	NM_177402.5(SYT2):c.900G>A (p.Met300Ile)	SYT2 (M300I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2816880	NM_177402.5(SYT2):c.414G>A (p.Glu138=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2812830	NM_177402.5(SYT2):c.784G>A (p.Gly262Ser)	SYT2 (G262S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2801491	NM_177402.5(SYT2):c.225G>A (p.Leu75=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2801072	NM_177402.5(SYT2):c.401A>C (p.Glu134Ala)	SYT2 (E134A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2790721	NM_177402.5(SYT2):c.801+7G>C	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2781181	NM_177402.5(SYT2):c.766G>A (p.Glu256Lys)	SYT2 (E256K)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2751755	NM_177402.5(SYT2):c.951T>C (p.Asn317=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2742357	NM_177402.5(SYT2):c.260G>C (p.Cys87Ser)	SYT2 (C87S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2726243	NM_177402.5(SYT2):c.358G>T (p.Ala120Ser)	SYT2 (A120S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2723594	NM_177402.5(SYT2):c.352G>A (p.Asp118Asn)	SYT2 (D118N)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2722554	NM_177402.5(SYT2):c.1254C>T (p.Asn418=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2698483	NM_177402.5(SYT2):c.1128G>A (p.Val376=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2690215	NM_177402.5(SYT2):c.145_147del (p.Glu49del)	SYT2 (E49del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2685837	GRCh37/hg19 1q32.1(chr1:202618779-202889022)x3	PCAT6, RABIF +3 more	Copy number gain	not provided	GUncertain significance
Select item 2639790	NM_177402.5(SYT2):c.1238C>T (p.Ala413Val)	SYT2 (A413V)	Single nucleotide variant (missense variant)	not provided	GConflicting classifications of pathogenicity
Select item 2635334	NM_177402.5(SYT2):c.1230G>C (p.Glu410Asp)	SYT2 (E410D)	Single nucleotide variant (missense variant)	SYT2-related disorder	GUncertain significance
Select item 2631391	NM_177402.5(SYT2):c.179-1G>A	SYT2	Single nucleotide variant (splice acceptor variant)	SYT2-related disorder	GLikely pathogenic
Select item 2581476	NM_177402.5(SYT2):c.787G>A (p.Gly263Arg)	SYT2 (G263R)	Single nucleotide variant (missense variant)	not specified +1 more	GUncertain significance
Select item 2579256	GRCh38/hg38 1q32.1(chr1:202434559-202604719)x0	LOC120893173, LOC122149342 +6 more	Copy number loss	Congenital myopathy	GUncertain significance
Select item 2577202	NM_177402.5(SYT2):c.827C>T (p.Thr276Ile)	SYT2 (T276I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2555369	NM_177402.5(SYT2):c.1041C>G (p.Phe347Leu)	SYT2 (F347L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2552127	NM_177402.5(SYT2):c.159T>G (p.Asn53Lys)	SYT2 (N53K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2505353	NM_177402.5(SYT2):c.207del (p.Val70fs)	SYT2 (V70fs)	Deletion (frameshift variant)	Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive	GLikely pathogenic
Select item 2474290	NM_177402.5(SYT2):c.656G>A (p.Gly219Asp)	SYT2 (G219D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2444098	NM_177402.5(SYT2):c.1081G>A (p.Asp361Asn)	SYT2 (D361N)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 7	GUncertain significance
Select item 2425293	NC_000001.10:g.(?_200522516)_(206945780_?)dup	ADIPOR1, ADORA1 +90 more	Duplication	Epilepsy, familial adult myoclonic, 5	GUncertain significance
Select item 2422293	NC_000001.10:g.(?_200522516)_(208391267_?)dup	ADIPOR1, ADORA1 +110 more	Duplication	not provided	GUncertain significance
Select item 2420137	NM_177402.5(SYT2):c.1075G>A (p.Val359Met)	SYT2 (V359M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2413243	NM_177402.5(SYT2):c.1017G>A (p.Glu339=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2410039	NM_177402.5(SYT2):c.1042G>A (p.Glu348Lys)	SYT2 (E348K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2405101	NM_177402.5(SYT2):c.7A>G (p.Asn3Asp)	SYT2 (N3D)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2253555	NM_177402.5(SYT2):c.521C>G (p.Thr174Ser)	SYT2 (T174S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2194371	NM_177402.5(SYT2):c.208G>A (p.Val70Met)	SYT2 (V70M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2176872	NM_177402.5(SYT2):c.289_291del (p.Glu97del)	SYT2 (E97del)	Deletion (inframe_deletion)	not provided	GUncertain significance
Select item 2168598	NM_177402.5(SYT2):c.614A>G (p.Asn205Ser)	SYT2 (N205S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2168565	NM_177402.5(SYT2):c.465+4T>C	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2168541	NM_177402.5(SYT2):c.150G>T (p.Lys50Asn)	SYT2 (K50N)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2134749	NM_177402.5(SYT2):c.465+17G>T	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2130774	NM_177402.5(SYT2):c.686_687del (p.Asp228_Phe229insTer)	SYT2	Deletion (nonsense)	not provided	GPathogenic
Select item 2126689	NM_177402.5(SYT2):c.346-5C>T	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2120599	NM_177402.5(SYT2):c.144G>A (p.Lys48=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2110384	NM_177402.5(SYT2):c.680A>C (p.Tyr227Ser)	SYT2 (Y227S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2103276	NM_177402.5(SYT2):c.178+2dup	SYT2	Duplication (splice donor variant)	not provided	GUncertain significance
Select item 2101355	NM_177402.5(SYT2):c.522C>G (p.Thr174=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2094009	NM_177402.5(SYT2):c.179-17C>T	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2085260	NM_177402.5(SYT2):c.687T>G (p.Phe229Leu)	SYT2 (F229L)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2078761	NM_177402.5(SYT2):c.478G>A (p.Val160Ile)	SYT2 (V160I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2072654	NM_177402.5(SYT2):c.919+4C>T	SYT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 2071908	NM_177402.5(SYT2):c.803C>T (p.Pro268Leu)	SYT2 (P268L)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2064106	NM_177402.5(SYT2):c.1054-20del	SYT2	Deletion (intron variant)	not provided	GLikely benign
Select item 2051870	NM_177402.5(SYT2):c.670A>G (p.Met224Val)	SYT2 (M224V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2040706	NM_177402.5(SYT2):c.79G>A (p.Val27Met)	SYT2 (V27M)	Single nucleotide variant (missense variant)	not provided +1 more	GUncertain significance
Select item 2036479	NM_177402.5(SYT2):c.465+9G>A	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2031307	NM_177402.5(SYT2):c.345+9C>T	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2026577	NM_177402.5(SYT2):c.346G>T (p.Asp116Tyr)	SYT2 (D116Y)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2021371	NM_177402.5(SYT2):c.104G>C (p.Gly35Ala)	SYT2 (G35A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2010136	NM_177402.5(SYT2):c.466-6C>T	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2010032	NM_177402.5(SYT2):c.652G>A (p.Gly218Arg)	SYT2 (G218R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1985921	NM_177402.5(SYT2):c.920-9C>T	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign

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