Related gene-specific medical variations for Gene (Select 642938) - ClinVar

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Items: 41

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 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 2460534	NM_001039762.3(INSYN2A):c.487G>A (p.Gly163Ser)	DOCK1, INSYN2A (G163S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 41