ACTL9[gene] - ClinVar

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Items: 48

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59082	GRCh38/hg38 19p13.3-13.2(chr19:1972245-9648879)x3	LOC130063254, LOC130063255 +810 more	Copy number gain	See cases	GPathogenic
Select item 545228	Single allele	ZNF562, ZNF699 +132 more	Duplication	Autism	GLikely pathogenic
Select item 3067944	NM_178525.5(ACTL9):c.1203_1222del (p.Glu401fs)	ACTL9 (E401fs)	Deletion (frameshift variant)	Spermatogenic failure 53	GUncertain significance
Select item 1048627	NM_178525.5(ACTL9):c.1209C>G (p.Tyr403Ter)	ACTL9 (Y403*)	Single nucleotide variant (nonsense)	Spermatogenic failure 53	GPathogenic
Select item 3039914	NM_178525.5(ACTL9):c.1199G>A (p.Arg400Gln)	ACTL9 (R400Q)	Single nucleotide variant (missense variant)	ACTL9-related disorder	GLikely benign
Select item 2548081	NM_178525.5(ACTL9):c.1193T>C (p.Val398Ala)	ACTL9 (V398A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141630	NM_178525.5(ACTL9):c.1171C>A (p.Arg391Ser)	ACTL9 (R391S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1048626	NM_178525.5(ACTL9):c.1138G>T (p.Val380Leu)	ACTL9 (V380L)	Single nucleotide variant (missense variant)	Spermatogenic failure 53	GPathogenic
Select item 1048625	NM_178525.5(ACTL9):c.1034C>T (p.Ser345Leu)	ACTL9 (S345L)	Single nucleotide variant (missense variant)	Spermatogenic failure 53	GPathogenic
Select item 3141625	NM_178525.5(ACTL9):c.1011C>G (p.Asn337Lys)	ACTL9 (N337K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141621	NM_178525.5(ACTL9):c.1001T>C (p.Leu334Ser)	ACTL9 (L334S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534025	NM_178525.5(ACTL9):c.955G>T (p.Ala319Ser)	ACTL9 (A319S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2543544	NM_178525.5(ACTL9):c.875A>G (p.Lys292Arg)	ACTL9 (K292R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2470951	NM_178525.5(ACTL9):c.856C>T (p.Arg286Cys)	ACTL9 (R286C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554825	NM_178525.5(ACTL9):c.842A>G (p.Lys281Arg)	ACTL9 (K281R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535025	NM_178525.5(ACTL9):c.823G>A (p.Glu275Lys)	ACTL9 (E275K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141686	NM_178525.5(ACTL9):c.788C>G (p.Ser263Cys)	ACTL9 (S263C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2294191	NM_178525.5(ACTL9):c.781G>A (p.Val261Met)	ACTL9 (V261M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257179	NM_178525.5(ACTL9):c.754G>A (p.Glu252Lys)	ACTL9 (E252K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2461581	NM_178525.5(ACTL9):c.682C>G (p.Leu228Val)	ACTL9 (L228V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2232845	NM_178525.5(ACTL9):c.622G>A (p.Val208Ile)	ACTL9 (V208I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348071	NM_178525.5(ACTL9):c.610T>A (p.Tyr204Asn)	ACTL9 (Y204N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483120	NM_178525.5(ACTL9):c.601G>A (p.Gly201Arg)	ACTL9 (G201R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264046	NM_178525.5(ACTL9):c.600C>G (p.His200Gln)	ACTL9 (H200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141663	NM_178525.5(ACTL9):c.576C>G (p.Ser192Arg)	ACTL9 (S192R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2229472	NM_178525.5(ACTL9):c.565G>A (p.Gly189Ser)	ACTL9 (G189S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141649	NM_178525.5(ACTL9):c.520G>A (p.Ala174Thr)	ACTL9 (A174T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3264034	NM_178525.5(ACTL9):c.511C>T (p.Arg171Cys)	ACTL9 (R171C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2548832	NM_178525.5(ACTL9):c.494T>A (p.Val165Glu)	ACTL9 (V165E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252722	NM_178525.5(ACTL9):c.427G>A (p.Asp143Asn)	ACTL9 (D143N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3141644	NM_178525.5(ACTL9):c.389G>T (p.Arg130Leu)	ACTL9 (R130L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2405096	NM_178525.5(ACTL9):c.319G>C (p.Glu107Gln)	ACTL9 (E107Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2279859	NM_178525.5(ACTL9):c.295G>C (p.Gly99Arg)	ACTL9 (G99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2245936	NM_178525.5(ACTL9):c.215C>G (p.Thr72Ser)	ACTL9 (T72S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289373	NM_178525.5(ACTL9):c.113C>G (p.Pro38Arg)	ACTL9 (P38R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2248737	NM_178525.5(ACTL9):c.104G>A (p.Arg35Gln)	ACTL9 (R35Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2383480	NM_178525.5(ACTL9):c.68A>T (p.Asn23Ile)	ACTL9 (N23I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2339788	NM_178525.5(ACTL9):c.56G>A (p.Arg19Lys)	ACTL9 (R19K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2478560	NM_178525.5(ACTL9):c.48G>T (p.Glu16Asp)	ACTL9 (E16D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2473141	NM_178525.5(ACTL9):c.47A>G (p.Glu16Gly)	ACTL9 (E16G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2618609	NM_178525.5(ACTL9):c.22T>C (p.Ser8Pro)	ACTL9 (S8P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2684883	GRCh37/hg19 19p13.2(chr19:8680064-9034843)x3	ACTL9, MBD3L1 +3 more	Copy number gain	not provided	GUncertain significance
Select item 980198	GRCh37/hg19 19p13.2(chr19:8680063-9273676)x3	ACTL9, MBD3L1 +8 more	Copy number gain	not provided	GUncertain significance
Select item 980197	GRCh37/hg19 19p13.2(chr19:8518395-10053298)x3	OR7E24, OR7G1 +31 more	Copy number gain	not provided	GUncertain significance
Select item 564607	GRCh37/hg19 19p13.3-13.2(chr19:3120160-9732820)x3	ACER1, ACSBG2 +165 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
Select item 221397	GRCh37/hg19 19p13.2(chr19:8661944-10104083)x1	ACTL9, ADAMTS10 +28 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance

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Items: 48