Related gene-specific medical variations for Gene (Select 63941) - ClinVar

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Links from Gene

Items: 23

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3263794	NM_001024675.2(ACTL10):c.224A>G (p.Lys75Arg)	ACTL10, LOC130065688 +1 more (K75R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263784	NM_001024675.2(ACTL10):c.610G>C (p.Gly204Arg)	ACTL10, NECAB3 (G204R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263773	NM_001024675.2(ACTL10):c.233C>T (p.Thr78Ile)	ACTL10, LOC130065688 +1 more (T78I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3263764	NM_001024675.2(ACTL10):c.626T>G (p.Val209Gly)	ACTL10, NECAB3 (V209G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141335	NM_001024675.2(ACTL10):c.686G>C (p.Arg229Pro)	ACTL10, NECAB3 (R229P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141328	NM_001024675.2(ACTL10):c.5C>G (p.Ala2Gly)	ACTL10, NECAB3 (A2G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141319	NM_001024675.2(ACTL10):c.526G>C (p.Ala176Pro)	ACTL10, NECAB3 (A176P)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141312	NM_001024675.2(ACTL10):c.488T>C (p.Val163Ala)	ACTL10, NECAB3 (V163A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141302	NM_001024675.2(ACTL10):c.411G>C (p.Glu137Asp)	ACTL10, NECAB3 (E137D)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3141293	NM_001024675.2(ACTL10):c.190A>C (p.Asn64His)	ACTL10, LOC130065688 +1 more (N64H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2600932	NM_001024675.2(ACTL10):c.424G>A (p.Ala142Thr)	ACTL10, NECAB3 (A142T)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2525611	NM_001024675.2(ACTL10):c.185C>T (p.Ala62Val)	ACTL10, LOC130065688 +1 more (A62V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2495534	NM_001024675.2(ACTL10):c.45C>G (p.Phe15Leu)	ACTL10, NECAB3 (F15L)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2489257	NM_001024675.2(ACTL10):c.499G>A (p.Gly167Ser)	ACTL10, NECAB3 (G167S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2407927	NM_001024675.2(ACTL10):c.101C>A (p.Ala34Glu)	ACTL10, NECAB3 (A34E)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392363	NM_080825.4(C20orf144):c.358C>G (p.Arg120Gly)	C20orf144, NECAB3 (R120G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2363638	NM_001024675.2(ACTL10):c.631A>T (p.Thr211Ser)	ACTL10, NECAB3 (T211S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2335322	NM_001024675.2(ACTL10):c.563G>A (p.Arg188Gln)	ACTL10, NECAB3 (R188Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2290080	NM_001024675.2(ACTL10):c.158C>G (p.Ser53Trp)	ACTL10, NECAB3 (S53W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2258224	NM_080825.4(C20orf144):c.439C>G (p.Arg147Gly)	C20orf144, NECAB3 (R147G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2248796	NM_001024675.2(ACTL10):c.319A>G (p.Ser107Gly)	ACTL10, NECAB3 (S107G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2241747	NM_080825.4(C20orf144):c.91T>C (p.Ser31Pro)	C20orf144, NECAB3 (S31P)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2230034	NM_080825.4(C20orf144):c.352T>G (p.Trp118Gly)	C20orf144, NECAB3 (W118G)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance

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Links from Gene

Items: 23