INSYN2A[gene] - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59707	GRCh38/hg38 10q24.31-26.3(chr10:100194215-132432797)x3	EDRF1-AS1, EDRF1-DT +1036 more	Copy number gain	See cases	GPathogenic
Select item 148679	GRCh38/hg38 10q24.31-26.3(chr10:100600492-133622588)x3	GSTO1, GSTO2 +1097 more	Copy number gain	See cases	GPathogenic
Select item 144206	GRCh38/hg38 10q25.1-26.3(chr10:108102587-133620674)x3	LOC126861107, LOC128598885 +802 more	Copy number gain	See cases	GPathogenic
Select item 57507	GRCh38/hg38 10q25.2-26.3(chr10:111313099-133620674)x3	ABLIM1, ABRAXAS2 +679 more	Copy number gain	See cases	GPathogenic
Select item 59728	GRCh38/hg38 10q26.11-26.3(chr10:117866565-133554210)x3	ABRAXAS2, ACADSB +514 more	Copy number gain	See cases	GPathogenic
Select item 153718	GRCh38/hg38 10q26.11-26.3(chr10:119707856-133613639)x3	LOC130004884, LOC130004885 +438 more	Copy number gain	See cases	GPathogenic
Select item 57403	GRCh38/hg38 10q26.12-26.3(chr10:120454430-133620674)x1	LOC130004881, LOC130004882 +418 more	Copy number loss	See cases	GPathogenic
Select item 150499	GRCh38/hg38 10q26.12-26.3(chr10:120970558-133622588)x1	LOC130005014, LOC130005015 +409 more	Copy number loss	See cases	GPathogenic
Select item 154374	GRCh38/hg38 10q26.13-26.3(chr10:121588992-133620674)x1	FUOM, GLRX3 +399 more	Copy number loss	See cases	GPathogenic
Select item 154670	GRCh38/hg38 10q26.13-26.3(chr10:121918547-133620674)x1	LOC130004911, LOC130004912 +395 more	Copy number loss	See cases	GPathogenic
Select item 57376	GRCh38/hg38 10q26.13-26.3(chr10:122265252-133620674)x1	ABRAXAS2, ACADSB +383 more	Copy number loss	See cases	GPathogenic
Select item 149417	GRCh38/hg38 10q26.13-26.3(chr10:122881207-133620609)x1	LOC130004994, LOC130004995 +361 more	Copy number loss	See cases	GPathogenic
Select item 58821	GRCh38/hg38 10q26.13-26.2(chr10:122973296-128210291)x1	ABRAXAS2, ACADSB +182 more	Copy number loss	See cases	GPathogenic
Select item 57447	GRCh38/hg38 10q26.13-26.3(chr10:123307835-133620674)x1	ABRAXAS2, ADAM12 +331 more	Copy number loss	See cases	GPathogenic
Select item 155477	GRCh38/hg38 10q26.13-26.3(chr10:123576393-133613639)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 58822	GRCh38/hg38 10q26.13-26.3(chr10:123580320-133558988)x1	ABRAXAS2, ADAM12 +318 more	Copy number loss	See cases	GPathogenic
Select item 155556	GRCh38/hg38 10q26.13-26.3(chr10:123986772-133613639)x1	ABRAXAS2, ADAM12 +311 more	Copy number loss	See cases	GPathogenic
Select item 147735	GRCh38/hg38 10q26.13-26.2(chr10:124032888-127368827)x3	ABRAXAS2, ADAM12 +117 more	Copy number gain	See cases	GPathogenic
Select item 146789	GRCh38/hg38 10q26.13-26.3(chr10:124473108-133620609)x1	ABRAXAS2, ADAM12 +297 more	Copy number loss	See cases	GPathogenic
Select item 148580	GRCh38/hg38 10q26.13-26.3(chr10:124834858-133622588)x1	LOC130005026, LOC130005027 +257 more	Copy number loss	See cases	GPathogenic
Select item 150776	GRCh38/hg38 10q26.13-26.3(chr10:125021995-133620609)x1	LOC126861090, LOC126861091 +250 more	Copy number loss	See cases	GPathogenic
Select item 152830	GRCh38/hg38 10q26.13-26.3(chr10:125452905-133785874)x3	ADAM12, ADAM8 +241 more	Copy number gain	See cases	GPathogenic
Select item 144259	GRCh38/hg38 10q26.13-26.3(chr10:125657472-133620674)x1	ADAM12, ADAM8 +234 more	Copy number loss	See cases	GPathogenic
Select item 3061841	GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1	LOC126861083, LOC126861084 +201 more	Copy number loss	Duane syndrome type 1 +1 more	GPathogenic
Select item 58823	GRCh38/hg38 10q26.2-26.3(chr10:126256585-133613938)x1	ADAM12, ADAM8 +207 more	Copy number loss	See cases	GPathogenic
Select item 144558	GRCh38/hg38 10q26.2-26.3(chr10:126730896-133620609)x1	LOC130005011, LOC130005012 +199 more	Copy number loss	See cases	GPathogenic
Select item 155548	GRCh38/hg38 10q26.2-26.3(chr10:126794646-133613639)x1	ADAM8, ADGRA1 +199 more	Copy number loss	See cases	GPathogenic
Select item 3109965	NM_001039762.3(INSYN2A):c.1414G>A (p.Gly472Arg)	DOCK1, INSYN2A (G472R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526372	NM_001039762.3(INSYN2A):c.1322T>C (p.Ile441Thr)	DOCK1, INSYN2A (I441T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109963	NM_001039762.3(INSYN2A):c.1069G>A (p.Asp357Asn)	DOCK1, INSYN2A (D357N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109962	NM_001039762.3(INSYN2A):c.1046T>C (p.Ile349Thr)	DOCK1, INSYN2A (I349T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109961	NM_001039762.3(INSYN2A):c.1019T>C (p.Val340Ala)	DOCK1, INSYN2A (V340A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3109990	NM_001039762.3(INSYN2A):c.956G>A (p.Ser319Asn)	DOCK1, INSYN2A (S319N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109989	NM_001039762.3(INSYN2A):c.902C>T (p.Ser301Leu)	DOCK1, INSYN2A (S301L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2508988	NM_001039762.3(INSYN2A):c.877C>A (p.His293Asn)	DOCK1, INSYN2A (H293N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109988	NM_001039762.3(INSYN2A):c.868A>G (p.Arg290Gly)	DOCK1, INSYN2A (R290G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109987	NM_001039762.3(INSYN2A):c.863G>A (p.Arg288Gln)	DOCK1, INSYN2A (R288Q)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3286178	NM_001039762.3(INSYN2A):c.862C>T (p.Arg288Trp)	DOCK1, INSYN2A (R288W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109986	NM_001039762.3(INSYN2A):c.859G>C (p.Glu287Gln)	DOCK1, INSYN2A (E287Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109985	NM_001039762.3(INSYN2A):c.826G>A (p.Ala276Thr)	DOCK1, INSYN2A (A276T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286175	NM_001039762.3(INSYN2A):c.766G>A (p.Val256Ile)	DOCK1, INSYN2A (V256I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109983	NM_001039762.3(INSYN2A):c.698G>A (p.Gly233Glu)	DOCK1, INSYN2A (G233E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109982	NM_001039762.3(INSYN2A):c.695G>A (p.Arg232Gln)	DOCK1, INSYN2A (R232Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109980	NM_001039762.3(INSYN2A):c.673C>A (p.Leu225Ile)	DOCK1, INSYN2A (L225I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109979	NM_001039762.3(INSYN2A):c.661G>T (p.Asp221Tyr)	DOCK1, INSYN2A (D221Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109978	NM_001039762.3(INSYN2A):c.661G>A (p.Asp221Asn)	DOCK1, INSYN2A (D221N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109977	NM_001039762.3(INSYN2A):c.649T>C (p.Ser217Pro)	DOCK1, INSYN2A (S217P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109976	NM_001039762.3(INSYN2A):c.641G>A (p.Arg214Gln)	DOCK1, INSYN2A (R214Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109975	NM_001039762.3(INSYN2A):c.614G>C (p.Gly205Ala)	DOCK1, INSYN2A (G205A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109974	NM_001039762.3(INSYN2A):c.596C>T (p.Pro199Leu)	DOCK1, INSYN2A (P199L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109973	NM_001039762.3(INSYN2A):c.548C>T (p.Thr183Ile)	DOCK1, INSYN2A (T183I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109972	NM_001039762.3(INSYN2A):c.491C>T (p.Ala164Val)	DOCK1, INSYN2A (A164V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2460534	NM_001039762.3(INSYN2A):c.487G>A (p.Gly163Ser)	DOCK1, INSYN2A (G163S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286174	NM_001039762.3(INSYN2A):c.479G>A (p.Arg160Gln)	DOCK1, INSYN2A (R160Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109971	NM_001039762.3(INSYN2A):c.418A>G (p.Asn140Asp)	DOCK1, INSYN2A (N140D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286177	NM_001039762.3(INSYN2A):c.379C>T (p.Leu127Phe)	DOCK1, INSYN2A (L127F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109970	NM_001039762.3(INSYN2A):c.365G>A (p.Arg122His)	DOCK1, INSYN2A (R122H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3286176	NM_001039762.3(INSYN2A):c.335A>G (p.Lys112Arg)	DOCK1, INSYN2A (K112R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3286179	NM_001039762.3(INSYN2A):c.331C>T (p.Leu111Phe)	DOCK1, INSYN2A (L111F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109969	NM_001039762.3(INSYN2A):c.313G>A (p.Val105Met)	DOCK1, INSYN2A (V105M)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109968	NM_001039762.3(INSYN2A):c.295G>A (p.Val99Ile)	DOCK1, INSYN2A (V99I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109967	NM_001039762.3(INSYN2A):c.254G>A (p.Arg85His)	DOCK1, INSYN2A (R85H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109966	NM_001039762.3(INSYN2A):c.244G>A (p.Ala82Thr)	DOCK1, INSYN2A (A82T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2468757	NM_001039762.3(INSYN2A):c.208G>C (p.Gly70Arg)	DOCK1, INSYN2A (G70R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2515843	NM_001039762.3(INSYN2A):c.122G>A (p.Arg41Gln)	DOCK1, INSYN2A (R41Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3109984	NM_001039762.3(INSYN2A):c.73G>T (p.Ala25Ser)	DOCK1, INSYN2A (A25S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2568659	NM_001039762.3(INSYN2A):c.37A>G (p.Thr13Ala)	DOCK1, INSYN2A (T13A)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2478433	NM_001039762.3(INSYN2A):c.17C>G (p.Thr6Ser)	DOCK1, INSYN2A (T6S)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3148924	GRCh37/hg19 10q26.12-26.3(chr10:122331280-135426386)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 3063175	GRCh37/hg19 10q26.13-26.3(chr10:125987494-135427143)x1	ABRAXAS2, ADAM12 +55 more	Copy number loss	not specified	GPathogenic
Select item 3063168	GRCh37/hg19 10q26.2(chr10:128766924-129095479)x1	DOCK1, INSYN2A	Copy number loss	not specified	GUncertain significance
Select item 3063167	GRCh37/hg19 10q26.2(chr10:128334180-129645457)x1	DOCK1, FOXI2 +2 more	Copy number loss	not specified	GUncertain significance
Select item 3063164	GRCh37/hg19 10q23.33-26.3(chr10:95078198-135427143)x3	ABCC2, ABLIM1 +293 more	Copy number gain	not specified	GPathogenic
Select item 3063149	GRCh37/hg19 10q26.13-26.3(chr10:126127397-135427143)x1	ABRAXAS2, ADAM12 +54 more	Copy number loss	not specified	GPathogenic
Select item 2685392	GRCh37/hg19 10q26.2(chr10:128938760-129015808)x1	DOCK1, INSYN2A	Copy number loss	not provided	GUncertain significance
Select item 2685391	GRCh37/hg19 10q26.2-26.3(chr10:128925940-135427143)x1	ADAM8, ADGRA1 +38 more	Copy number loss	not provided	GPathogenic
Select item 2684621	GRCh37/hg19 10q25.1-26.3(chr10:111447991-133435388)x3	ABLIM1, ABRAXAS2 +117 more	Copy number gain	not provided	GPathogenic
Select item 2671974	GRCh37/hg19 10q25.1-26.3(chr10:111378692-135427143)x3	ABLIM1, ABRAXAS2 +145 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2671973	GRCh37/hg19 10q26.2-26.3(chr10:128289206-135427143)x1	TCERG1L, TCERG1L-AS1 +38 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2580338	GRCh37/hg19 10q26.13-26.3(chr10:124895517-135440296)x1	ABRAXAS2, ADAM12 +62 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574696	GRCh37/hg19 10p14-q26.3(chr10:11138692-135427143)	AGAP5, CRTAC1 +682 more	Copy number gain	Distal trisomy 10q	GPathogenic
Select item 2574693	GRCh37/hg19 10q26.13-26.3(chr10:123477898-135427143)	GLRX3, GPR26 +77 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2574686	GRCh37/hg19 10p13-q26.3(chr10:12829206-135427143)	ABRAXAS2, CHCHD1 +673 more	Copy number loss	Distal 10q deletion syndrome	GPathogenic
Select item 2498475	GRCh37/hg19 10q26.12-26.3(chr10:122610933-135439810)x1	ABRAXAS2, ACADSB +80 more	Copy number loss	not provided	GPathogenic
Select item 1808847	GRCh37/hg19 10q26.13-26.3(chr10:126662496-133985966)x3	ADAM12, BCCIP +24 more	Copy number gain	not provided	GUncertain significance
Select item 1808564	GRCh37/hg19 10q26.2(chr10:128766925-129645385)x1	DOCK1, FOXI2 +2 more	Copy number loss	not provided	GUncertain significance
Select item 1807724	GRCh37/hg19 10q26.2-26.3(chr10:128877896-131842835)x1	CLRN3, DOCK1 +7 more	Copy number loss	not provided	GPathogenic
Select item 1711099	GRCh37/hg19 10q26.13-26.3(chr10:127198625-135427143)x3	ADAM12, ADAM8 +47 more	Copy number gain	See cases	GPathogenic
Select item 1711096	GRCh37/hg19 10q26.13-26.3(chr10:126914469-135427143)x1	ADAM12, ADAM8 +47 more	Copy number loss	See cases	GPathogenic
Select item 1527621	GRCh37/hg19 10q26.2(chr10:128925939-128941448)	DOCK1, INSYN2A	Copy number loss	not specified	GUncertain significance
Select item 1527620	GRCh37/hg19 10q26.2(chr10:128881187-128964237)	DOCK1, INSYN2A	Copy number loss	not specified	GUncertain significance
Select item 1527619	GRCh37/hg19 10q26.2(chr10:128876823-129645457)	DOCK1, FOXI2 +2 more	Copy number loss	not specified	GUncertain significance
Select item 1527616	GRCh37/hg19 10q26.2-26.3(chr10:128465436-135427143)	ADAM8, ADGRA1 +38 more	Copy number loss	not specified	GPathogenic
Select item 1527609	GRCh37/hg19 10q26.12-26.3(chr10:122343861-135427143)	FAM24A, FAM24B +80 more	Copy number loss	not specified	GPathogenic
Select item 1527608	GRCh37/hg19 10q26.12-26.3(chr10:122125760-135062972)	ABRAXAS2, ACADSB +68 more	Copy number gain	not specified	GLikely pathogenic
Select item 1527605	GRCh37/hg19 10q25.1-26.3(chr10:108455687-135427143)	ABLIM1, ABRAXAS2 +146 more	Copy number gain	not specified	GPathogenic
Select item 1180521	GRCh37/hg19 10q25.3-26.3(chr10:118247181-135435319)x3	ECHS1, EDRF1 +110 more	Copy number gain	not provided	GPathogenic
Select item 1172570	GRCh37/hg19 10q26.12-26.3(chr10:122785023-135457222)x1	FANK1, FGFR2 +79 more	Copy number loss	See cases	GPathogenic
Select item 1077185	Single allele	STK32C, SYCE1 +43 more	Deletion	Distal 10q deletion syndrome	GPathogenic
Select item 979906	GRCh37/hg19 10q26.2(chr10:128508130-129341981)x3	DOCK1, INSYN2A	Copy number gain	not provided	GUncertain significance

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