DDX19A[gene] - ClinVar

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

Search results

Items: 63

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	MIR138-2, MIR140 +1738 more	Copy number gain	See cases	GPathogenic
Select item 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic
Select item 58632	GRCh38/hg38 16q21-23.1(chr16:58456122-74708723)x3	LOC130059197, LOC130059198 +575 more	Copy number gain	See cases	GPathogenic
Select item 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059829, LOC130059830 +1429 more	Copy number gain	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	LOC108281164, LOC109029536 +1426 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	LOC130059834, LOC130059835 +1424 more	Copy number gain	See cases	GPathogenic
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059420, LOC130059421 +869 more	Copy number gain	See cases	GPathogenic
Select item 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	LOC132090408, LOC132090409 +572 more	Copy number gain	See cases	GPathogenic
Select item 148810	GRCh38/hg38 16q22.1-22.2(chr16:69918076-71541872)x3	AARS1, CALB2 +84 more	Copy number gain	See cases	GUncertain significance
Select item 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 656813	NC_000016.9:g.(?_70286614)_(70669268_?)dup	AARS1, COG4 +27 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2301822	NM_018332.5(DDX19A):c.40G>A (p.Glu14Lys)	DDX19A (E14K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080911	NM_018332.5(DDX19A):c.53A>C (p.Lys18Thr)	DDX19A (K18T)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2526012	NM_018332.5(DDX19A):c.69G>T (p.Leu23Phe)	DDX19A (L23F)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2322619	NM_018332.5(DDX19A):c.101C>G (p.Thr34Ser)	DDX19A (T34S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080907	NM_018332.5(DDX19A):c.104A>G (p.Asn35Ser)	DDX19A (N35S)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2209180	NM_018332.5(DDX19A):c.128C>T (p.Thr43Ile)	DDX19A (T43I)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2215441	NM_018332.5(DDX19A):c.133G>A (p.Glu45Lys)	DDX19A (E45K)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3080908	NM_018332.5(DDX19A):c.250A>C (p.Asn84His)	DDX19A (N84H)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2308530	NM_018332.5(DDX19A):c.290G>A (p.Arg97Gln)	DDX19A (R97Q)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3080909	NM_018332.5(DDX19A):c.359A>T (p.Asn120Ile)	DDX19A (N120I +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2257257	NM_018332.5(DDX19A):c.370A>G (p.Met124Val)	DDX19A (M34V +1 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 3080910	NM_018332.5(DDX19A):c.430A>T (p.Thr144Ser)	DDX19A (T113S +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080912	NM_018332.5(DDX19A):c.658G>A (p.Val220Met)	DDX19A (V130M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3271259	NM_018332.5(DDX19A):c.772C>T (p.Arg258Cys)	DDX19A (R227C +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2646681	NM_018332.5(DDX19A):c.907C>T (p.Leu303=)	DDX19A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2364347	NM_018332.5(DDX19A):c.1091G>C (p.Gly364Ala)	DDX19A (G214A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2474076	NM_018332.5(DDX19A):c.1135C>G (p.Arg379Gly)	DDX19A (R289G +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2349291	NM_018332.5(DDX19A):c.1139A>C (p.Glu380Ala)	DDX19A (E203A +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3243655	NC_000016.9:g.(?_70286624)_(72146396_?)del	COG4, AARS1 +27 more	Deletion	not provided	GPathogenic
Select item 3243569	NC_000016.9:g.(?_70305664)_(70834803_?)dup	DDX19B, FCSK +8 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AARS1, AP1G1 +51 more	Deletion	Immunodeficiency	GUncertain significance
Select item 3063458	GRCh37/hg19 16q22.1(chr16:70180112-70650383)x3	AARS1, CLEC18C +10 more	Copy number gain	not specified	GUncertain significance
Select item 2685575	GRCh37/hg19 16q22.1-22.3(chr16:69709450-73535741)x1	AARS1, AP1G1 +40 more	Copy number loss	not provided	GPathogenic
Select item 2684812	GRCh37/hg19 16q22.1(chr16:70305107-70594202)x3	AARS1, COG4 +5 more	Copy number gain	not provided	GUncertain significance
Select item 2684811	GRCh37/hg19 16q22.1-22.2(chr16:70179556-71750471)x3	AARS1, CALB2 +21 more	Copy number gain	not provided	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1706519	GRCh37/hg19 16q22.1-23.1(chr16:68971067-74823560)x1	TXNL4B, UTP4 +59 more	Copy number loss	See cases	GPathogenic
Select item 1676307	GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3	AARS1, ABCC11 +368 more	Copy number gain	not provided	GPathogenic
Select item 1526516	GRCh37/hg19 16q22.1-22.2(chr16:70273406-70960990)	HYDIN, IL34 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1526515	GRCh37/hg19 16q22.1(chr16:70024576-70673886)	LOC400541, PDPR +10 more	Copy number gain	not specified	GUncertain significance
Select item 1441673	NC_000016.9:g.(?_69680960)_(72146396_?)dup	AARS1, AP1G1 +37 more	Duplication	Immunodeficiency	GUncertain significance
Select item 1340701	GRCh37/hg19 16q22.1-22.2(chr16:70272361-70983737)x1	AARS1, COG4 +10 more	Copy number loss	not provided	GUncertain significance
Select item 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 870558	GRCh37/hg19 16q22.1(chr16:70185757-70416579)x3	DDX19A, DDX19B +6 more	Copy number gain	Abnormal peripheral nervous system morphology	GUncertain significance
Select item 815825	GRCh37/hg19 16q22.1(chr16:70381448-70627356)x3	IL34, ST3GAL2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 686715	GRCh37/hg19 16q22.1(chr16:70393149-70798654)x3	COG4, DDX19A +6 more	Copy number gain	not provided	GUncertain significance
Select item 685008	GRCh37/hg19 16q22.1-22.2(chr16:70277618-70917102)x4	AARS1, COG4 +10 more	Copy number gain	not provided	GUncertain significance
Select item 564331	GRCh37/hg19 16q12.2-22.2(chr16:54416050-72453266)x3	AARS1, ACD +194 more	Copy number gain	not provided	GPathogenic
Select item 523162	GRCh37/hg19 16q11.2-24.3(chr16:46455960-90354753)x1	CA7, COG8 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 523156	GRCh37/hg19 16q11.2-24.3(chr16:46497599-90354753)x1	KCTD19, KIAA0513 +368 more	Copy number loss	Poly (ADP-Ribose) polymerase inhibitor response	Gdrug response
Select item 443126	GRCh37/hg19 16p13.2-q24.3(chr16:9273328-89548493)x3	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +811 more	Copy number gain	See cases	GPathogenic
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 394274	GRCh37/hg19 16q22.1(chr16:70358583-70398862)x3	DDX19A, DDX19B	Copy number gain	See cases	GLikely benign
Select item 221523	GRCh37/hg19 16q12.2-22.2(chr16:55359026-70884455)x1	AARS1, ACD +174 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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: 63