ClinVar for Gene (Select 341359) - ClinVar

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Links from Gene

Items: 74

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3172948	NM_198992.4(SYT10):c.856C>A (p.Arg286Ser)	SYT10 (R286S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172947	NM_198992.4(SYT10):c.702A>C (p.Lys234Asn)	SYT10 (K234N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172946	NM_198992.4(SYT10):c.37T>A (p.Cys13Ser)	SYT10 (C13S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172945	NM_198992.4(SYT10):c.284C>T (p.Thr95Met)	SYT10 (T95M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172944	NM_198992.4(SYT10):c.240T>G (p.Cys80Trp)	SYT10 (C80W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172943	NM_198992.4(SYT10):c.186C>A (p.Ser62Arg)	SYT10 (S62R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172942	NM_198992.4(SYT10):c.146G>T (p.Ser49Ile)	SYT10 (S49I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172940	NM_198992.4(SYT10):c.1230A>C (p.Glu410Asp)	SYT10 (E410D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063250	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835641)x3	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 2671607	Single allele	FGD4, FGF23 +278 more	Duplication	not provided	GPathogenic
Select item 2642844	NM_198992.4(SYT10):c.1368T>C (p.Asp456=)	SYT10	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2612678	NM_198992.4(SYT10):c.1210A>G (p.Lys404Glu)	SYT10 (K404E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2607729	NM_198992.4(SYT10):c.34C>G (p.Leu12Val)	SYT10 (L12V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2595554	NM_198992.4(SYT10):c.178G>A (p.Val60Ile)	SYT10 (V60I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530989	NM_198992.4(SYT10):c.842A>C (p.Lys281Thr)	SYT10 (K281T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475833	NM_198992.4(SYT10):c.859G>A (p.Val287Met)	SYT10 (V287M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2462693	NM_198992.4(SYT10):c.1175C>T (p.Ala392Val)	SYT10 (A392V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459751	NM_198992.4(SYT10):c.74T>G (p.Phe25Cys)	SYT10 (F25C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2445417	GRCh37/hg19 12p13.33-11.1(chr12:176047-34179852)x4	AKAP3, ETFRF1 +278 more	Copy number gain	Pallister-Killian syndrome	GPathogenic
Select item 2386076	NM_198992.4(SYT10):c.1555C>A (p.Pro519Thr)	SYT10 (P519T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2382673	NM_198992.4(SYT10):c.461A>G (p.Lys154Arg)	SYT10 (K154R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376124	NM_198992.4(SYT10):c.1420G>A (p.Glu474Lys)	SYT10 (E474K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352128	NM_198992.4(SYT10):c.77C>T (p.Ala26Val)	SYT10 (A26V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2335403	NM_198992.4(SYT10):c.386C>G (p.Pro129Arg)	SYT10 (P129R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324698	NM_198992.4(SYT10):c.1232G>A (p.Gly411Asp)	SYT10 (G411D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2307219	NM_198992.4(SYT10):c.1423G>A (p.Gly475Ser)	SYT10 (G475S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2306638	NM_198992.4(SYT10):c.339A>C (p.Lys113Asn)	SYT10 (K113N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304255	NM_198992.4(SYT10):c.832G>T (p.Asp278Tyr)	SYT10 (D278Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2300125	NM_198992.4(SYT10):c.528A>T (p.Arg176Ser)	SYT10 (R176S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290665	NM_198992.4(SYT10):c.1375G>A (p.Gly459Arg)	SYT10 (G459R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2282813	NM_198992.4(SYT10):c.502T>A (p.Ser168Thr)	SYT10 (S168T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267864	NM_198992.4(SYT10):c.1549C>G (p.Pro517Ala)	SYT10 (P517A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232966	NM_198992.4(SYT10):c.376G>A (p.Ala126Thr)	SYT10 (A126T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230487	NM_198992.4(SYT10):c.229T>C (p.Trp77Arg)	SYT10 (W77R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2225252	NM_198992.4(SYT10):c.1079A>G (p.Glu360Gly)	SYT10 (E360G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808440	GRCh37/hg19 12p11.21-11.1(chr12:32576883-33609400)x3	DNM1L, FGD4 +3 more	Copy number gain	not provided	GUncertain significance
Select item 1527672	GRCh37/hg19 12p13.33-q11(chr12:173786-37869301)	C3AR1, CACNA1C +278 more	Copy number gain	not specified	GPathogenic
Select item 1527671	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)	A2M, A2ML1 +278 more	Copy number gain	not specified	GPathogenic
Select item 973850	GRCh37/hg19 12p11.1(chr12:33526428-34714602)x3	ALG10, SYT10	Copy number gain	Global developmental delay	GUncertain significance
Select item 815493	GRCh37/hg19 12p13.33-q11(chr12:274676-37869301)x4	ART4, DYRK4 +278 more	Copy number gain	not provided	GPathogenic
Select item 787922	NM_198992.4(SYT10):c.1514C>T (p.Ala505Val)	SYT10 (A505V)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 768537	NM_198992.4(SYT10):c.369C>T (p.Ala123=)	SYT10	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 714177	NM_198992.4(SYT10):c.1259C>G (p.Thr420Ser)	SYT10 (T420S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 686501	GRCh37/hg19 12p13.33-11.1(chr12:173786-34496628)x3	CLEC1B, CLEC2A +278 more	Copy number gain	not provided	GPathogenic
Select item 563991	GRCh37/hg19 12p13.33-q11(chr12:173786-37869107)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563990	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563989	GRCh37/hg19 12p13.33-11.1(chr12:173786-34835837)x2,3	A2M, A2ML1 +278 more	Copy number gain	not provided	GPathogenic
Select item 563974	GRCh37/hg19 12p11.1(chr12:33526428-34835389)x4	SYT10, ALG10	Copy number gain	not provided	GLikely benign
Select item 524190	NC_000012.11:g.26370251_54361538inv	AAAS, ABCD2 +212 more	Inversion	not specified	GUncertain significance
Select item 443854	GRCh37/hg19 12p11.22-11.1(chr12:29579030-34835837)x3	ALG10, AMN1 +17 more	Copy number gain	See cases	GLikely pathogenic
Select item 443519	GRCh37/hg19 12p11.22-q12(chr12:29123400-40956186)x3	ABCD2, ALG10 +27 more	Copy number gain	See cases	GLikely pathogenic
Select item 442150	GRCh37/hg19 12p13.33-11.1(chr12:565369-34835837)x3	KCNA6, KCNJ8 +273 more	Copy number gain	See cases	GLikely pathogenic
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	DBX2, DCD +1006 more	Copy number gain	See cases	GPathogenic
Select item 395673	GRCh37/hg19 12p13.33-11.1(chr12:189578-34756150)	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 394935	GRCh37/hg19 12p11.1(chr12:33528404-33579087)x3	SYT10	Copy number gain	See cases	GBenign
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	AGAP2, ARF3 +1007 more	Copy number gain	See cases	GPathogenic
Select item 253582	GRCh37/hg19 12p13.33-11.1(chr12:148034-34178799)x4	ACSM4, CCND2 +278 more	Copy number gain	See cases	GPathogenic
Select item 253493	GRCh37/hg19 12p13.33-11.1(chr12:89061-34178799)x3	A2M, A2ML1 +278 more	Copy number gain	See cases	GPathogenic
Select item 221992	GRCh37/hg19 12p11.21-q13.12(chr12:31886971-50360461)x3	ABCD2, ADAMTS20 +92 more	Copy number gain	See cases	GPathogenic
Select item 154842	GRCh38/hg38 12p11.1(chr12:33392359-34603261)x3	ALG10, LINC02963 +9 more	Copy number gain	See cases	GLikely benign
Select item 153982	GRCh38/hg38 12p11.1(chr12:33276356-33734564)x1	LOC116268437, SYT10	Copy number loss	See cases	GUncertain significance
Select item 153962	GRCh38/hg38 12p13.33-11.1(chr12:64620-34682902)x4	CLEC12A, CLEC12A-AS1 +1258 more	Copy number gain	See cases	GPathogenic
Select item 153768	GRCh38/hg38 12p11.1(chr12:33387634-33973022)x1	LOC116268437, SYT10	Copy number loss	See cases	GUncertain significance
Select item 153744	GRCh38/hg38 12p11.1(chr12:33387634-33973962)x1	LOC116268437, SYT10	Copy number loss	See cases	GLikely benign
Select item 152276	GRCh38/hg38 12p11.1(chr12:33392214-33943704)x1	LOC116268437, SYT10	Copy number loss	See cases	Gconflicting data from submitters
Select item 151004	GRCh38/hg38 12p13.33-11.1(chr12:54427-34608071)x4	TAS2R9, TEAD4 +1258 more	Copy number gain	See cases	GPathogenic
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	LOC130008916, LOC130008917 +4836 more	Copy number gain	See cases	GPathogenic
Select item 150158	GRCh38/hg38 12p13.33-11.1(chr12:121271-34603261)x3	LOC126861494, LOC126861495 +1257 more	Copy number gain	See cases	GPathogenic
Select item 147419	GRCh38/hg38 12p13.33-11.1(chr12:121255-34603274)x3	LOC130007230, LOC130007231 +1257 more	Copy number gain	See cases	GPathogenic
Select item 144376	GRCh38/hg38 12p12.1-11.1(chr12:25263833-34064528)x1	ALG10, AMN1 +242 more	Copy number loss	See cases	GPathogenic
Select item 59799	GRCh38/hg38 12p13.33-11.1(chr12:212976-33926913)x4	CACNA1C-AS2, CACNA1C-AS4 +1242 more	Copy number gain	See cases	GPathogenic
Select item 59794	GRCh38/hg38 12p13.33-11.1(chr12:77187-34380176)x3	LOC126861410, LOC126861411 +1258 more	Copy number gain	See cases	GPathogenic
Select item 32828	GRCh38/hg38 12p11.1(chr12:33392214-34603274)x3	ALG10, LINC02963 +9 more	Copy number gain	See cases	GUncertain significance

ClinVar

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Links from Gene

Items: 74