ClinVar for Gene (Select 6861) - ClinVar

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Links from Gene

Items: 50

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324051	NM_003180.3(SYT5):c.650T>C (p.Val217Ala)	SYT5 (V214A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324050	NM_003180.3(SYT5):c.835G>A (p.Val279Ile)	SYT5 (V275I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324049	NM_003180.3(SYT5):c.490G>C (p.Val164Leu)	SYT5 (V161L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324048	NM_003180.3(SYT5):c.407C>G (p.Ala136Gly)	SYT5 (A136G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324047	NM_003180.3(SYT5):c.154C>T (p.Arg52Trp)	SYT5 (R52W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3173024	NM_003180.3(SYT5):c.973G>A (p.Glu325Lys)	SYT5 (E325K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173023	NM_003180.3(SYT5):c.955G>A (p.Val319Ile)	SYT5 (V315I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173022	NM_003180.3(SYT5):c.761G>C (p.Gly254Ala)	SYT5 (G250A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173021	NM_003180.3(SYT5):c.701G>A (p.Arg234Gln)	SYT5 (R231Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173020	NM_003180.3(SYT5):c.62G>C (p.Arg21Pro)	SYT5 (A76P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173019	NM_003180.3(SYT5):c.469C>G (p.Arg157Gly)	SYT5 (R157G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173018	NM_003180.3(SYT5):c.1075G>T (p.Asp359Tyr)	SYT5 (D359Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3173017	NM_003180.3(SYT5):c.106G>A (p.Val36Met)	SYT5 (V36M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2514681	NM_003180.3(SYT5):c.61C>A (p.Arg21Ser)	SYT5 (R21S)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 2490267	NM_003180.3(SYT5):c.997A>G (p.Lys333Glu)	SYT5 (K329E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490266	NM_003180.3(SYT5):c.164G>A (p.Cys55Tyr)	SYT5 (C55Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406154	NM_003180.3(SYT5):c.122T>C (p.Leu41Pro)	SYT5 (L41P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2384194	NM_003180.3(SYT5):c.306G>C (p.Gln102His)	SYT5 (Q99H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311865	NM_003180.3(SYT5):c.1088A>G (p.Asn363Ser)	SYT5 (N363S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308192	NM_003180.3(SYT5):c.916T>C (p.Tyr306His)	SYT5 (Y302H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256734	NM_003180.3(SYT5):c.72C>A (p.His24Gln)	SYT5 (H24Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229420	NM_003180.3(SYT5):c.397A>G (p.Met133Val)	SYT5 (M130V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2210086	NM_003180.3(SYT5):c.914A>G (p.Tyr305Cys)	SYT5 (Y301C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808436	GRCh37/hg19 19q13.42(chr19:55642778-55932200)x3	BRSK1, COX6B2 +16 more	Copy number gain	not provided	GUncertain significance
Select item 1341981	GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1	CCDC106, COX6B2 +45 more	Copy number loss	not provided	GUncertain significance
Select item 1341017	GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1	BRSK1, CCDC106 +54 more	Copy number loss	not provided	GLikely pathogenic
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +308 more	Copy number gain	not provided	GPathogenic
Select item 648531	NC_000019.9:g.(?_55644273)_(55768277_?)dup	DNAAF3, DNAAF3-AS1 +18 more	Duplication	Nemaline myopathy 5 +1 more	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564602	GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3	BRSK1, CACNG6 +68 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443202	GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3	BRSK1, CCDC106 +61 more	Copy number gain	See cases	GUncertain significance
Select item 394988	GRCh37/hg19 19q13.42(chr19:55685936-55692713)x1	PTPRH, SYT5	Copy number loss	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 253851	GRCh37/hg19 19q13.42(chr19:55665527-55692769)x3	DNAAF3, PTPRH +2 more	Copy number gain	See cases	GUncertain significance
Select item 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	NAT14, NLRP11 +124 more	Copy number gain	See cases	GUncertain significance
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

ClinVar

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Links from Gene

Items: 50