SYT13[gene] - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58889	GRCh38/hg38 11p13-11.2(chr11:35663578-46959820)x1	LOC130005622, LOC130005623 +224 more	Copy number loss	See cases	GPathogenic
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +264 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	LOC130005585, LOC130005586 +258 more	Copy number loss	See cases	GPathogenic
Select item 154181	GRCh38/hg38 11p12-11.2(chr11:42553659-46114792)x1	LOC130005592, LOC130005593 +111 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +254 more	Copy number gain	See cases	GLikely pathogenic
Select item 58891	GRCh38/hg38 11p11.2(chr11:44136593-46121139)x1	ALX4, CD82 +78 more	Copy number loss	See cases	GPathogenic
Select item 2314636	NM_020826.3(SYT13):c.1199C>T (p.Ser400Leu)	SYT13 (S256L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2326984	NM_020826.3(SYT13):c.1193A>T (p.His398Leu)	SYT13 (H254L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2334382	NM_020826.3(SYT13):c.1077G>C (p.Met359Ile)	SYT13 (M359I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172971	NM_020826.3(SYT13):c.854C>G (p.Ser285Cys)	SYT13 (S141C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569328	NM_020826.3(SYT13):c.851C>A (p.Pro284Gln)	SYT13 (P140Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172970	NM_020826.3(SYT13):c.814G>T (p.Ala272Ser)	SYT13 (A128S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172969	NM_020826.3(SYT13):c.800T>C (p.Val267Ala)	SYT13 (V267A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519819	NM_020826.3(SYT13):c.787G>T (p.Asp263Tyr)	SYT13 (D119Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 793356	NM_020826.3(SYT13):c.786G>A (p.Leu262=)	SYT13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 3172968	NM_020826.3(SYT13):c.776G>A (p.Arg259His)	SYT13 (R259H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316712	NM_020826.3(SYT13):c.719C>T (p.Thr240Met)	SYT13 (T240M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2617751	NM_020826.3(SYT13):c.644G>C (p.Arg215Pro)	SYT13 (R71P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311469	NM_020826.3(SYT13):c.606G>T (p.Arg202Ser)	SYT13 (R58S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570250	NM_020826.3(SYT13):c.527T>C (p.Phe176Ser)	SYT13 (F176S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172967	NM_020826.3(SYT13):c.499G>A (p.Asp167Asn)	SYT13 (D167N +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 715633	NM_020826.3(SYT13):c.471C>T (p.Asn157=)	SYT13	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2617888	NM_020826.3(SYT13):c.427T>A (p.Cys143Ser)	SYT13 (C143S)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2396364	NM_020826.3(SYT13):c.371G>T (p.Arg124Met)	SYT13 (R124M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2463646	NM_020826.3(SYT13):c.361C>G (p.Arg121Gly)	SYT13 (R121G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3172966	NM_020826.3(SYT13):c.269C>T (p.Thr90Met)	SYT13 (T90M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2299461	NM_020826.3(SYT13):c.211G>C (p.Val71Leu)	SYT13 (V71L)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 3172965	NM_020826.3(SYT13):c.203C>T (p.Thr68Met)	SYT13 (T68M)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2354923	NM_020826.3(SYT13):c.191T>G (p.Val64Gly)	SYT13 (V64G)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 58160	GRCh38/hg38 11p11.2(chr11:45272625-45532378)x3	LINC02687, LINC02696 +2 more	Copy number gain	See cases	GUncertain significance
Select item 2346873	NM_020826.3(SYT13):c.169G>C (p.Gly57Arg)	SYT13 (G57R)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GLikely benign
Select item 2537336	NM_020826.3(SYT13):c.103C>A (p.Pro35Thr)	SYT13 (P35T)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 2210128	NM_020826.3(SYT13):c.101A>C (p.His34Pro)	SYT13 (H34P)	Single nucleotide variant (5 prime UTR variant +1 more)	not specified	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACCS, ACCSL +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340316	GRCh37/hg19 11p11.2(chr11:45287267-45599960)x3	SYT13	Copy number gain	not provided	GUncertain significance
Select item 1340048	GRCh37/hg19 11p12-11.2(chr11:40117145-46920718)x1	ACCS, ACCSL +33 more	Copy number loss	not provided	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 979916	GRCh37/hg19 11p11.2(chr11:44266593-46123796)x4	ALX4, PRDM11 +13 more	Copy number gain	not provided	GUncertain significance
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	B3GAT3, B3GNT6 +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	PTPMT1, PTPN5 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 41