DUXA[gene] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 38

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 153557	GRCh38/hg38 19q13.43(chr19:56353449-58445521)x3	A1BG, A1BG-AS1 +179 more	Copy number gain	See cases	GUncertain significance
Select item 59128	GRCh38/hg38 19q13.43(chr19:56363208-58581203)x3	A1BG, A1BG-AS1 +215 more	Copy number gain	See cases	GPathogenic
Select item 152852	GRCh38/hg38 19q13.43(chr19:56879333-57167550)x3	DUXA, LOC112553119 +3 more	Copy number gain	See cases	GUncertain significance
Select item 773778	NM_001012729.2(DUXA):c.573del (p.Phe192fs)	DUXA (F192fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 3086368	NM_001012729.2(DUXA):c.559C>G (p.Gln187Glu)	DUXA (Q187E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615359	NM_001012729.2(DUXA):c.497C>T (p.Ala166Val)	DUXA (A166V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2622251	NM_001012729.2(DUXA):c.415G>A (p.Gly139Ser)	DUXA (G139S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267015	NM_001012729.2(DUXA):c.349A>G (p.Ile117Val)	DUXA (I117V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2236934	NM_001012729.2(DUXA):c.343A>C (p.Thr115Pro)	DUXA (T115P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086366	NM_001012729.2(DUXA):c.313C>T (p.Arg105Cys)	DUXA (R105C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355604	NM_001012729.2(DUXA):c.308G>A (p.Arg103Gln)	DUXA (R103Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2454518	NM_001012729.2(DUXA):c.307C>T (p.Arg103Trp)	DUXA (R103W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530045	NM_001012729.2(DUXA):c.217C>A (p.Gln73Lys)	DUXA (Q73K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521196	NM_001012729.2(DUXA):c.211G>A (p.Gly71Arg)	DUXA (G71R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2537880	NM_001012729.2(DUXA):c.202G>C (p.Ala68Pro)	DUXA (A68P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308345	NM_001012729.2(DUXA):c.179A>C (p.Gln60Pro)	DUXA (Q60P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407412	NM_001012729.2(DUXA):c.56G>A (p.Arg19His)	DUXA (R19H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348374	NM_001012729.2(DUXA):c.49C>T (p.Arg17Cys)	DUXA (R17C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3086367	NM_001012729.2(DUXA):c.47G>C (p.Arg16Thr)	DUXA (R16T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3062375	GRCh37/hg19 19q13.42-13.43(chr19:56080158-57672397)x1	CCDC106, DUXA +36 more	Copy number loss	not specified	GUncertain significance
Select item 816097	GRCh37/hg19 19q13.43(chr19:57671695-57745390)x1	ZNF264, DUXA +1 more	Copy number loss	not provided	GUncertain significance
Select item 688240	GRCh37/hg19 19q13.43(chr19:57395831-57679329)x3	DUXA, USP29 +1 more	Copy number gain	not provided	GUncertain significance
Select item 685831	GRCh37/hg19 19q13.43(chr19:57590808-57745390)x3	AURKC, DUXA +3 more	Copy number gain	not provided	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 560105	Single allele	ZNF805, ZNF17 +11 more	Duplication	not provided	GUncertain significance
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 442403	GRCh37/hg19 19q13.43(chr19:56706500-58956888)x3	A1BG, AURKC +64 more	Copy number gain	See cases	GUncertain significance
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 38