11510[HGNC] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58112	GRCh38/hg38 1q31.1-42.11(chr1:187143981-224299417)x3	LOC129932539, LOC129932540 +1148 more	Copy number gain	See cases	GPathogenic
Select item 144143	GRCh38/hg38 1q32.1(chr1:200144603-203112078)x1	LOC120893174, LOC122149340 +166 more	Copy number loss	See cases	GPathogenic
Select item 2579256	GRCh38/hg38 1q32.1(chr1:202434559-202604719)x0	LOC120893173, LOC122149342 +6 more	Copy number loss	Congenital myopathy	GUncertain significance
Select item 1215331	NM_177402.5(SYT2):c.*121CTTGTTTTTC[1]	SYT2	Microsatellite (3 prime UTR variant)	not provided	GLikely benign
Select item 1296030	NM_177402.5(SYT2):c.134_137del	SYT2	Deletion (3 prime UTR variant)	not provided	GBenign
Select item 1327265	NM_177402.5(SYT2):c.*17C>T	SYT2	Single nucleotide variant (3 prime UTR variant)	not provided	GBenign
Select item 2722554	NM_177402.5(SYT2):c.1254C>T (p.Asn418=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1908728	NM_177402.5(SYT2):c.1242C>T (p.Leu414=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 3173002	NM_177402.5(SYT2):c.1234G>A (p.Asp412Asn)	SYT2 (D412N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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 2985381	NM_177402.5(SYT2):c.1215C>G (p.Leu405=)	SYT2	Single nucleotide variant (synonymous variant)	SYT2-related disorder +1 more	GLikely benign
Select item 1226268	NM_177402.5(SYT2):c.1197C>T (p.Ile399=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 745765	NM_177402.5(SYT2):c.1194C>T (p.Pro398=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1192315	NM_177402.5(SYT2):c.1191del (p.Arg397fs)	SYT2 (R397fs)	Deletion (frameshift variant)	Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive	GPathogenic
Select item 1955333	NM_177402.5(SYT2):c.1187G>A (p.Arg396Gln)	SYT2 (R396Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1584039	NM_177402.5(SYT2):c.1167C>T (p.Ser389=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1515151	NM_177402.5(SYT2):c.1157G>A (p.Arg386Gln)	SYT2 (R386Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 731537	NM_177402.5(SYT2):c.1143G>A (p.Thr381=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1426728	NM_177402.5(SYT2):c.1142C>T (p.Thr381Met)	SYT2 (T381M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2698483	NM_177402.5(SYT2):c.1128G>A (p.Val376=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1588076	NM_177402.5(SYT2):c.1125C>T (p.Phe375=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1192311	NM_177402.5(SYT2):c.1112T>A (p.Ile371Lys)	SYT2	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 7	GPathogenic
Select item 746985	NM_177402.5(SYT2):c.1104C>T (p.Asn368=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1683407	NM_177402.5(SYT2):c.1103A>C (p.Asn368Thr)	SYT2 (N368T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1370570	NM_177402.5(SYT2):c.1102A>G (p.Asn368Asp)	SYT2 (N368D)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1192312	NM_177402.5(SYT2):c.1082_1096del (p.Asp361_Leu365del)	SYT2	Deletion (inframe_deletion)	Congenital myasthenic syndrome 7	GPathogenic
Select item 1192313	NM_177402.5(SYT2):c.1094T>C (p.Leu365Pro)	SYT2	Single nucleotide variant (missense variant)	not provided	GPathogenic
Select item 373966	NM_177402.5(SYT2):c.1084_1089del (p.Tyr362_Asp363del)	SYT2	Deletion (inframe_deletion)	Muscle weakness +1 more	GLikely pathogenic
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 816798	NM_177402.5(SYT2):c.1081G>C (p.Asp361His)	SYT2 (D361H)	Single nucleotide variant (missense variant)	Flexion contracture	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 1386342	NM_177402.5(SYT2):c.1060C>T (p.Gln354Ter)	SYT2 (Q354*)	Single nucleotide variant (nonsense)	not provided	GUncertain significance
Select item 1467737	NM_177402.5(SYT2):c.1054-3C>T	SYT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1550841	NM_177402.5(SYT2):c.1054-5del	SYT2	Deletion (intron variant)	not provided	GLikely benign
Select item 1528938	NM_177402.5(SYT2):c.1054-8C>T	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2981636	NM_177402.5(SYT2):c.1054-13G>A	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1904994	NM_177402.5(SYT2):c.1054-14C>T	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 2874652	NM_177402.5(SYT2):c.1054-18C>T	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2064106	NM_177402.5(SYT2):c.1054-20del	SYT2	Deletion (intron variant)	not provided	GLikely benign
Select item 1281357	NM_177402.5(SYT2):c.1054-26A>T	SYT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1238857	NM_177402.5(SYT2):c.1054-109A>G	SYT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1247594	NM_177402.5(SYT2):c.1054-177dup	SYT2	Duplication (intron variant)	not provided	GBenign
Select item 1274322	NM_177402.5(SYT2):c.1054-273A>C	SYT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1189771	NM_177402.5(SYT2):c.1053+189G>C	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1566269	NM_177402.5(SYT2):c.1053+16G>A	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1659792	NM_177402.5(SYT2):c.1053+14G>T	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1624429	NM_177402.5(SYT2):c.1053+7G>A	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1308535	NM_177402.5(SYT2):c.1053+1G>T	SYT2	Single nucleotide variant (splice donor variant)	not provided	GUncertain significance
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 2555369	NM_177402.5(SYT2):c.1041C>G (p.Phe347Leu)	SYT2 (F347L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1619722	NM_177402.5(SYT2):c.1041C>T (p.Phe347=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2413243	NM_177402.5(SYT2):c.1017G>A (p.Glu339=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1596873	NM_177402.5(SYT2):c.1014C>T (p.Asn338=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1431945	NM_177402.5(SYT2):c.1010T>G (p.Phe337Cys)	SYT2 (F337C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2954946	NM_177402.5(SYT2):c.997C>T (p.Leu333=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1437586	NM_177402.5(SYT2):c.986A>G (p.Lys329Arg)	SYT2 (K329R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1347310	NM_177402.5(SYT2):c.982G>A (p.Val328Met)	SYT2 (V328M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1925213	NM_177402.5(SYT2):c.981C>T (p.Thr327=)	SYT2	Single nucleotide variant (synonymous variant)	SYT2-related disorder +1 more	GLikely benign
Select item 1368402	NM_177402.5(SYT2):c.981C>G (p.Thr327=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1492895	NM_177402.5(SYT2):c.965AGA[3] (p.Lys325del)	SYT2 (K325del)	Microsatellite (inframe_deletion)	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 1801948	NM_177402.5(SYT2):c.960G>T (p.Arg320Ser)	SYT2 (R320S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 712922	NM_177402.5(SYT2):c.958A>C (p.Arg320=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GBenign/Likely benign
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 2751755	NM_177402.5(SYT2):c.951T>C (p.Asn317=)	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 1571279	NM_177402.5(SYT2):c.940C>T (p.Leu314=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1963623	NM_177402.5(SYT2):c.927C>T (p.Tyr309=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1949914	NM_177402.5(SYT2):c.924G>A (p.Pro308=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 156369	NM_177402.5(SYT2):c.923C>T (p.Pro308Leu)	SYT2 (P308L)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
Select item 156368	NM_177402.5(SYT2):c.920A>C (p.Asp307Ala)	SYT2 (D307A)	Single nucleotide variant (missense variant)	Congenital myasthenic syndrome 7	GPathogenic
Select item 1567367	NM_177402.5(SYT2):c.920-4G>A	SYT2	Single nucleotide variant (intron variant)	not provided +1 more	GLikely benign
Select item 1293175	NM_177402.5(SYT2):c.920-5C>T	SYT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1985921	NM_177402.5(SYT2):c.920-9C>T	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 2855739	NM_177402.5(SYT2):c.920-10C>T	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1673276	NM_177402.5(SYT2):c.920-17G>A	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1267063	NM_177402.5(SYT2):c.920-27T>C	SYT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1233900	NM_177402.5(SYT2):c.920-256A>G	SYT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1268976	NM_177402.5(SYT2):c.919+331C>T	SYT2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1930300	NM_177402.5(SYT2):c.919+10G>A	SYT2	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 1335008	NM_177402.5(SYT2):c.919+5G>A	SYT2	Single nucleotide variant (intron variant)	not provided	GConflicting classifications of pathogenicity
Select item 2072654	NM_177402.5(SYT2):c.919+4C>T	SYT2	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 1516278	NM_177402.5(SYT2):c.919+1G>A	SYT2	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1698082	NM_177402.5(SYT2):c.917C>T (p.Ser306Leu)	SYT2 (S306L)	Single nucleotide variant (missense variant)	not provided	GLikely pathogenic
Select item 1581523	NM_177402.5(SYT2):c.909C>T (p.Gly303=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1512404	NM_177402.5(SYT2):c.904G>A (p.Val302Met)	SYT2 (V302M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1403546	NM_177402.5(SYT2):c.884_904del (p.Lys295_Val302delinsMet)	SYT2	Deletion (inframe_indel)	not provided	GUncertain significance
Select item 444191	NM_177402.5(SYT2):c.903C>T (p.Asp301=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GConflicting classifications of pathogenicity
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 1636731	NM_177402.5(SYT2):c.852C>T (p.Ala284=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1261940	NM_177402.5(SYT2):c.849G>A (p.Thr283=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1461044	NM_177402.5(SYT2):c.848C>G (p.Thr283Arg)	SYT2 (T283R)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1390745	NM_177402.5(SYT2):c.848C>T (p.Thr283Met)	SYT2 (T283M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1645961	NM_177402.5(SYT2):c.840T>C (p.Tyr280=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1653652	NM_177402.5(SYT2):c.831C>T (p.Ser277=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
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 1912728	NM_177402.5(SYT2):c.816C>T (p.Gly272=)	SYT2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1192314	NM_177402.5(SYT2):c.805G>T (p.Glu269Ter)	SYT2 (E269*)	Single nucleotide variant (nonsense)	Myasthenic syndrome, congenital, 7B, presynaptic, autosomal recessive	GPathogenic

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