DACT3[gene] - ClinVar

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Items: 51

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147383	GRCh38/hg38 19q13.32-13.33(chr19:44971420-48257402)x3	AP2S1, ARHGAP35 +363 more	Copy number gain	See cases	GPathogenic
Select item 148766	GRCh38/hg38 19q13.32(chr19:45387389-46831000)x1	CALM3, CCDC61 +190 more	Copy number loss	See cases	GLikely pathogenic
Select item 161062	GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	CALM3, DACT3 +46 more	Copy number gain	See cases	GUncertain significance
Select item 33175	GRCh38/hg38 19q13.32(chr19:46434490-46831000)x3	CALM3, DACT3 +46 more	Copy number gain	See cases	GUncertain significance
Select item 60103	GRCh38/hg38 19q13.32-13.33(chr19:46458122-47683579)x1	AP2S1, ARHGAP35 +123 more	Copy number loss	See cases	GPathogenic
Select item 2479896	NM_145056.3(DACT3):c.1882A>G (p.Thr628Ala)	DACT3, LOC130064767 (T403A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2309682	NM_145056.3(DACT3):c.1861G>T (p.Gly621Cys)	DACT3 (G621C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242524	NM_145056.3(DACT3):c.1807G>T (p.Val603Leu)	DACT3 (V603L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2307466	NM_145056.3(DACT3):c.1478G>C (p.Arg493Pro)	DACT3 (R268P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2512098	NM_145056.3(DACT3):c.1439C>T (p.Ala480Val)	DACT3 (A480V +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333556	NM_145056.3(DACT3):c.1375C>T (p.Arg459Cys)	DACT3 (R234C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590755	NM_145056.3(DACT3):c.1306G>A (p.Ala436Thr)	DACT3 (A211T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2614671	NM_145056.3(DACT3):c.1259A>G (p.Lys420Arg)	DACT3 (K195R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2329458	NM_145056.3(DACT3):c.1258A>G (p.Lys420Glu)	DACT3 (K195E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2606029	NM_145056.3(DACT3):c.1241G>C (p.Gly414Ala)	DACT3 (G189A +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2621455	NM_145056.3(DACT3):c.1234C>T (p.Arg412Cys)	DACT3 (R187C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2274520	NM_145056.3(DACT3):c.1111C>T (p.Pro371Ser)	DACT3 (P146S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2346581	NM_145056.3(DACT3):c.1096G>C (p.Ala366Pro)	DACT3 (A366P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2410697	NM_145056.3(DACT3):c.1072C>G (p.Gln358Glu)	DACT3 (Q133E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2242245	NM_145056.3(DACT3):c.1018C>T (p.Pro340Ser)	DACT3 (P340S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2479898	NM_145056.3(DACT3):c.873C>A (p.Asp291Glu)	DACT3 (D66E +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396636	NM_145056.3(DACT3):c.863G>T (p.Arg288Leu)	DACT3 (R288L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349387	NM_145056.3(DACT3):c.856C>T (p.Arg286Cys)	DACT3 (R286C +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2596833	NM_145056.3(DACT3):c.836C>T (p.Pro279Leu)	DACT3 (P279L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2463996	NM_145056.3(DACT3):c.812G>C (p.Ser271Thr)	DACT3 (S271T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2213171	NM_145056.3(DACT3):c.802C>A (p.Pro268Thr)	DACT3 (P268T +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2256449	NM_145056.3(DACT3):c.788G>C (p.Arg263Pro)	DACT3 (R263P +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2590745	NM_145056.3(DACT3):c.785G>T (p.Arg262Leu)	DACT3 (R37L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 619120	NM_145056.3(DACT3):c.751G>T (p.Gly251Cys)	DACT3 (G251C +1 more)	Single nucleotide variant (missense variant)	Progressive spastic paraparesis +1 more	GUncertain significance
Select item 2367802	NM_145056.3(DACT3):c.736G>C (p.Gly246Arg)	DACT3 (G246R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396168	NM_145056.3(DACT3):c.716C>T (p.Ser239Leu)	DACT3 (S14L +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2327341	NM_145056.3(DACT3):c.611C>T (p.Ser204Phe)	DACT3 (S204F)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2605205	NM_145056.3(DACT3):c.541G>A (p.Ala181Thr)	DACT3 (A181T)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2314902	NM_145056.3(DACT3):c.535G>C (p.Ala179Pro)	DACT3 (A179P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2340764	NM_145056.3(DACT3):c.344C>T (p.Ser115Leu)	DACT3 (S115L)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2247780	NM_145056.3(DACT3):c.338G>C (p.Arg113Pro)	DACT3 (R113P)	Single nucleotide variant (5 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 59115	GRCh38/hg38 19q13.32-13.33(chr19:46658791-49050450)x3	AP2S1, ARHGAP35 +290 more	Copy number gain	See cases	GPathogenic
Select item 2527609	NM_145056.3(DACT3):c.236T>G (p.Leu79Arg)	DACT3, DACT3-AS1 (L79R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2244138	NM_145056.3(DACT3):c.92A>G (p.His31Arg)	DACT3, DACT3-AS1 (H31R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2504578	GRCh37/hg19 19q13.32-13.33(chr19:47028919-48185409)	CCDC9, DACT3 +25 more	Copy number gain	Coffin-Siris syndrome 12	GLikely pathogenic
Select item 1526668	GRCh37/hg19 19q13.32(chr19:46918881-47782258)	AP2S1, ARHGAP35 +18 more	Copy number gain	not specified	GUncertain significance
Select item 1411336	NC_000019.9:g.(?_47104692)_(47260195_?)dup	CALM3, DACT3 +5 more	Duplication	Long QT syndrome 1	GUncertain significance
Select item 830903	NC_000019.10:g.(?_46605817)_(46756948_?)dup	CALM3, DACT3 +5 more	Duplication	Walker-Warburg congenital muscular dystrophy	GUncertain significance
Select item 816085	GRCh37/hg19 19q13.32-13.33(chr19:45531056-48174177)x3	GPR4, LOC400706 +75 more	Copy number gain	not provided	GUncertain significance
Select item 816084	GRCh37/hg19 19q13.31-13.42(chr19:44738088-53621561)x3	CLDND2, IGSF23 +293 more	Copy number gain	not provided	GPathogenic
Select item 685025	GRCh37/hg19 19q11-13.33(chr19:28271106-49213832)x3	ACP7, ACTMAP +434 more	Copy number gain	not provided	GPathogenic
Select item 625762	GRCh37/hg19 19q13.32-13.33(chr19:47036361-48525536)	AP2S1, ARHGAP35 +33 more	Copy number gain	not provided	GPathogenic
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	LILRA4, LILRA5 +1364 more	Copy number gain	See cases	GPathogenic
Select item 441540	GRCh37/hg19 19q13.32-13.33(chr19:46404248-48488721)x1	SELENOW, SLC1A5 +47 more	Copy number loss	See cases	GLikely pathogenic
Select item 253540	GRCh37/hg19 19q13.2-13.32(chr19:43013365-47241534)x1	ERCC2, PPP5C +121 more	Copy number loss	See cases	GPathogenic

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Items: 51