ClinVar for Gene (Select 23208) - ClinVar

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Links from Gene

Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3324021	NM_152280.5(SYT11):c.625C>T (p.Arg209Trp)	SYT11 (R209W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3324020	NM_152280.5(SYT11):c.317G>A (p.Arg106Gln)	SYT11 (R106Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3324019	NM_152280.5(SYT11):c.334G>A (p.Gly112Arg)	SYT11 (G112R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3242278	GRCh37/hg19 1q22-23.2(chr1:155709113-159191078)x3	ACKR1, AIM2 +80 more	Copy number gain	not provided	GLikely pathogenic
Select item 3172953	NM_152280.5(SYT11):c.847A>C (p.Lys283Gln)	SYT11 (K283Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172952	NM_152280.5(SYT11):c.563A>G (p.Asp188Gly)	SYT11 (D188G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172951	NM_152280.5(SYT11):c.196C>T (p.Pro66Ser)	SYT11 (P66S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172950	NM_152280.5(SYT11):c.1147G>A (p.Asp383Asn)	SYT11 (D383N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3172949	NM_152280.5(SYT11):c.1073T>C (p.Ile358Thr)	SYT11 (I358T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063532	GRCh37/hg19 1q21.1-23.1(chr1:146577511-157155587)x3	ACP6, ADAM15 +263 more	Copy number gain	not specified	GPathogenic
Select item 3063199	GRCh37/hg19 1q21.3-23.1(chr1:154302443-156868186)x1	ADAM15, ADAR +85 more	Copy number loss	not specified	GPathogenic
Select item 3062988	GRCh37/hg19 1q21.1-23.1(chr1:144368497-158992086)x3	ACP6, ADAM15 +315 more	Copy number gain	not specified	GPathogenic
Select item 2610326	NM_152280.5(SYT11):c.725T>C (p.Leu242Pro)	SYT11 (L242P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2580317	GRCh37/hg19 1q12-23.1(chr1:142535935-157648813)x3	ACP6, ADAM15 +293 more	Copy number gain	Chromosome 1q21.1 duplication syndrome	GPathogenic
Select item 2527316	NM_152280.5(SYT11):c.329C>T (p.Pro110Leu)	SYT11 (P110L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458861	NM_152280.5(SYT11):c.1096G>A (p.Asp366Asn)	SYT11 (D366N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425657	NC_000001.10:g.(?_155581953)_(155880552_?)del	DAP3, GON4L +4 more	Deletion	not provided	GPathogenic
Select item 2404987	NM_152280.5(SYT11):c.122A>G (p.His41Arg)	SYT11 (H41R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340048	NM_152280.5(SYT11):c.547G>A (p.Gly183Arg)	SYT11 (G183R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325259	NM_152280.5(SYT11):c.88G>A (p.Val30Ile)	SYT11 (V30I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2275298	NM_152280.5(SYT11):c.1015G>A (p.Gly339Ser)	SYT11 (G339S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272174	NM_152280.5(SYT11):c.760C>G (p.Arg254Gly)	SYT11 (R254G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267785	NM_152280.5(SYT11):c.727C>T (p.His243Tyr)	SYT11 (H243Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240215	NM_152280.5(SYT11):c.544C>T (p.His182Tyr)	SYT11 (H182Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235281	NM_152280.5(SYT11):c.55G>A (p.Gly19Ser)	SYT11 (G19S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227657	NM_152280.5(SYT11):c.355A>G (p.Ile119Val)	SYT11 (I119V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808454	GRCh37/hg19 1q22(chr1:155489474-156196407)x3	ARHGEF2, ASH1L +18 more	Copy number gain	not provided	GUncertain significance
Select item 1527293	GRCh37/hg19 1q22(chr1:155616264-156059947)	ARHGEF2, DAP3 +12 more	Copy number loss	not specified	GUncertain significance
Select item 1460461	NC_000001.10:g.(?_155581953)_(156851434_?)del	ARHGEF2, BCAN +45 more	Deletion	Charcot-Marie-Tooth disease type 2	GPathogenic
Select item 1450274	NC_000001.10:g.(?_154141761)_(156851434_?)dup	ADAM15, ADAR +90 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 1445481	NC_000001.10:g.(?_149895434)_(156851434_?)dup	SELENBP1, SEMA4A +228 more	Duplication	Kostmann syndrome +3 more	GUncertain significance
Select item 1003645	NC_000001.10:g.(?_130980840)_(248900000_?)dup	FCGR3A, LCE3C +956 more	Duplication	Parathyroid carcinoma +2 more	GUncertain significance
Select item 688120	GRCh37/hg19 1q22-23.1(chr1:155770505-156652136)x3	ARHGEF2, BCAN +33 more	Copy number gain	not provided	GUncertain significance
Select item 565183	GRCh37/hg19 1q22-23.1(chr1:155636337-158024499)x1	ARHGEF11, ARHGEF2 +57 more	Copy number loss	not provided	GPathogenic
Select item 495229	Single allele	BGLAP, C1orf43 +90 more	Inversion	Pediatric metastatic thyroid tumour	GLikely pathogenic
Select item 493594	GRCh37/hg19 1q21.3-23.1(chr1:153751465-156660462)x3	ADAR, PYGO2 +91 more	Copy number gain	not provided	GLikely pathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	CD34, CD46 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	GPATCH2, GPATCH3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 155448	GRCh38/hg38 1q21.2-25.2(chr1:149854269-180267197)x3	LOC129931453, LOC129931454 +1585 more	Copy number gain	See cases	GPathogenic
Select item 151159	GRCh38/hg38 1q21.3-23.1(chr1:154566501-157624084)x3	ADAM15, ADAM15-EFNA4 +297 more	Copy number gain	See cases	GPathogenic
Select item 149955	GRCh38/hg38 1q22(chr1:155834419-156434205)x3	ARHGEF2, ARHGEF2-AS2 +90 more	Copy number gain	See cases	GUncertain significance

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Links from Gene

Items: 41