ACTR6[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 150740	GRCh38/hg38 12p13.33-q24.33(chr12:121271-133196807)x3	ACAD10, ACADS +4836 more	Copy number gain	See cases	GPathogenic
Select item 154380	GRCh38/hg38 12q21.33-24.11(chr12:91044318-109133210)x3	ABTB3, ACACB +712 more	Copy number gain	See cases	GPathogenic
Select item 148826	GRCh38/hg38 12q23.1-23.2(chr12:97394550-101410225)x3	ACTR6, ANKS1B +91 more	Copy number gain	See cases	GLikely pathogenic
Select item 152829	GRCh38/hg38 12q23.1(chr12:100058819-100217800)x1	ACTR6, BLTP3B +9 more	Copy number loss	See cases	GUncertain significance
Select item 59817	GRCh38/hg38 12q23.1(chr12:100078579-100273980)x3	ACTR6, BLTP3B +16 more	Copy number gain	See cases	GPathogenic
Select item 2300970	NM_022496.5(ACTR6):c.419C>T (p.Pro140Leu)	ACTR6 (P140L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474698	NM_022496.5(ACTR6):c.612A>C (p.Gln204His)	ACTR6 (Q204H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142617	NM_022496.5(ACTR6):c.692C>T (p.Thr231Ile)	ACTR6 (T231I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2532153	NM_022496.5(ACTR6):c.692C>G (p.Thr231Arg)	ACTR6 (T231R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2307874	NM_022496.5(ACTR6):c.829G>A (p.Val277Ile)	ACTR6 (V277I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2514205	NM_022496.5(ACTR6):c.833C>T (p.Pro278Leu)	ACTR6 (P278L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142622	NM_022496.5(ACTR6):c.931C>G (p.Pro311Ala)	ACTR6 (P311A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3142625	NM_022496.5(ACTR6):c.992A>T (p.Asp331Val)	ACTR6 (D331V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2389115	NM_022496.5(ACTR6):c.994C>T (p.Arg332Trp)	ACTR6 (R332W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2222952	NM_022496.5(ACTR6):c.995G>A (p.Arg332Gln)	ACTR6 (R332Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380177	NM_022496.5(ACTR6):c.1062C>A (p.Asn354Lys)	ACTR6 (N354K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 1527728	GRCh37/hg19 12q23.1-23.3(chr12:100580198-105804075)	ACTR6, ALDH1L2 +39 more	Copy number gain	not specified	GUncertain significance
Select item 1527727	GRCh37/hg19 12q23.1-23.2(chr12:100564593-103021075)	ACTR6, ANO4 +19 more	Copy number loss	not specified	GUncertain significance
Select item 687225	GRCh37/hg19 12q23.1(chr12:100455466-100697174)x3	ACTR6, BLTP3B +2 more	Copy number gain	not provided	GUncertain significance
Select item 687126	GRCh37/hg19 12q23.1(chr12:100185181-100736359)x1	ACTR6, ANKS1B +3 more	Copy number loss	not provided	GUncertain significance
Select item 563984	GRCh37/hg19 12q23.1(chr12:96719383-101537641)x3	ACTR6, ANKS1B +16 more	Copy number gain	not provided	GLikely pathogenic
Select item 563969	GRCh37/hg19 12q23.1(chr12:99725136-100857873)x3	ACTR6, ANKS1B +5 more	Copy number gain	not provided	GUncertain significance
Select item 563938	GRCh37/hg19 12q23.1(chr12:100340426-100726200)x1	UHRF1BP1L, SCYL2 +3 more	Copy number loss	not provided	GUncertain significance
Select item 441984	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)	SLC15A5, SLC16A7 +1006 more	Copy number gain	See cases	GPathogenic
Select item 441983	GRCh37/hg19 12p13.33-q24.33(chr12:173787-133777902)x3	A2M, A2ML1 +1006 more	Copy number gain	See cases	GPathogenic
Select item 268075	GRCh37/hg19 12p13.33-q24.33(chr12:1-133851895)x3	GALNT8, H2AJ +1007 more	Copy number gain	See cases	GPathogenic

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Items: 26