SYT7[gene] - ClinVar

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Items: 39

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150457	GRCh38/hg38 11q12.2(chr11:61181337-61516830)x3	CPSF7, CYB561A3 +23 more	Copy number gain	See cases	GUncertain significance
Select item 146819	GRCh38/hg38 11q12.2(chr11:61409529-61821159)x3	CPSF7, DAGLA +30 more	Copy number gain	See cases	GLikely benign
Select item 3324061	NM_001365809.2(SYT7):c.2030C>T (p.Pro677Leu)	SYT7 (P394L +4 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173031	NM_001365809.2(SYT7):c.1928A>G (p.Lys643Arg)	SYT7 (K404R +5 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3173034	NM_001365809.2(SYT7):c.1771G>T (p.Val591Leu)	SYT7 (V352L +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2343857	NM_001365809.2(SYT7):c.1721G>A (p.Arg574Gln)	SYT7 (R387Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173032	NM_001365809.2(SYT7):c.1675T>C (p.Tyr559His)	SYT7 (Y320H +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331190	NM_001365809.2(SYT7):c.1646G>A (p.Ser549Asn)	SYT7 (S385N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619010	NM_001365809.2(SYT7):c.1549C>T (p.Pro517Ser)	SYT7 (P234S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340959	NM_001365809.2(SYT7):c.1372G>A (p.Val458Ile)	SYT7 (V175I +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641830	NM_001365809.2(SYT7):c.1308C>T (p.Thr436=)	SYT7	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2510227	NM_001365809.2(SYT7):c.1247G>A (p.Arg416Gln)	SYT7 (R177Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488166	NM_001365809.2(SYT7):c.1224T>G (p.Asp408Glu)	SYT7 (D244E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2242734	NM_001365809.2(SYT7):c.1144G>A (p.Glu382Lys)	SYT7 (E143K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607485	NM_001365809.2(SYT7):c.1076G>A (p.Gly359Glu)	SYT7 (G120E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2641831	NM_001365809.2(SYT7):c.713G>A (p.Arg238Gln)	SYT7 (R238Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 1801813	NM_001365809.2(SYT7):c.193C>T (p.Arg65Cys)	SYT7 (R65C)	Single nucleotide variant (missense variant)	Myoepithelial tumor	GUncertain significance
Select item 3324060	NM_001365809.2(SYT7):c.145T>G (p.Tyr49Asp)	SYT7 (Y49D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324059	NM_001365809.2(SYT7):c.142C>T (p.Arg48Cys)	SYT7 (R48C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173030	NM_001365809.2(SYT7):c.106G>A (p.Gly36Ser)	SYT7 (G36S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173029	NM_001365809.2(SYT7):c.100C>T (p.Leu34Phe)	SYT7 (L34F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173028	NM_001365809.2(SYT7):c.100C>G (p.Leu34Val)	SYT7 (L34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2379499	NM_001365809.2(SYT7):c.97G>C (p.Val33Leu)	SYT7 (V33L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2560311	NM_001365809.2(SYT7):c.49G>A (p.Val17Ile)	SYT7 (V17I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257292	NM_001365809.2(SYT7):c.49G>T (p.Val17Phe)	SYT7 (V17F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173033	NM_001365809.2(SYT7):c.8G>A (p.Arg3Gln)	SYT7 (R3Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063215	GRCh37/hg19 11q12.1-13.3(chr11:56895955-69295402)x3	ACTN3, ACY3 +343 more	Copy number gain	not specified	GLikely pathogenic
Select item 3063189	GRCh37/hg19 11p11.12-q13.1(chr11:50398499-63924462)x3	AHNAK, APLNR +225 more	Copy number gain	not specified	GLikely pathogenic
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426363	NC_000011.9:g.(?_61197619)_(61552680_?)del	DAGLA, LRRC10B +4 more	Deletion	Hereditary pheochromocytoma-paraganglioma	GPathogenic
Select item 2425028	NC_000011.9:g.(?_58916346)_(64972349_?)dup	AHNAK, ARL2 +182 more	Duplication	Leukocyte adhesion deficiency 3	GUncertain significance
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 815435	GRCh37/hg19 11q12.2-12.3(chr11:60385382-62456278)x3	CD5, CD6 +58 more	Copy number gain	not provided	GUncertain significance
Select item 687991	GRCh37/hg19 11q12.2(chr11:60499486-61529578)x3	CCDC86, CD5 +27 more	Copy number gain	not provided	GUncertain significance
Select item 563873	GRCh37/hg19 11q12.1-12.3(chr11:58935215-62177656)x3	ASRGL1, BEST1 +72 more	Copy number gain	not provided	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 39