DDX19A-DT[gene] - ClinVar

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Items: 31

	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 2482167	NM_007242.7(DDX19B):c.340C>T (p.Arg114Cys)	DDX19A-DT, DDX19B (R5C +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2550440	NM_007242.7(DDX19B):c.390C>G (p.Pro130=)	DDX19A-DT, DDX19B	Single nucleotide variant (synonymous variant +1 more)	not specified	GLikely benign
Select item 3080915	NM_007242.7(DDX19B):c.464A>G (p.Gln155Arg)	DDX19A-DT, DDX19B (Q124R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080916	NM_007242.7(DDX19B):c.557G>A (p.Gly186Asp)	DDX19A-DT, DDX19B (G191D +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2481979	NM_007242.7(DDX19B):c.580C>G (p.Leu194Val)	DDX19A-DT, DDX19B (L163V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271261	NM_007242.7(DDX19B):c.610G>A (p.Glu204Lys)	DDX19A-DT, DDX19B (E173K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2325436	NM_007242.7(DDX19B):c.697C>A (p.Pro233Thr)	DDX19A-DT, DDX19B (P207T +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271260	NM_007242.7(DDX19B):c.899A>T (p.Glu300Val)	DDX19A-DT, DDX19B (E300V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2396759	NM_007242.7(DDX19B):c.950G>A (p.Arg317Lys)	DDX19A-DT, DDX19B (R166K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2557476	NM_007242.7(DDX19B):c.985G>A (p.Gly329Arg)	DDX19A-DT, DDX19B (G178R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527021	NM_007242.7(DDX19B):c.1091G>A (p.Ser364Asn)	DDX19A-DT, DDX19B (S333N +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305435	NM_007242.7(DDX19B):c.1139G>A (p.Arg380Gln)	DDX19A-DT, DDX19B (R229Q +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488348	NM_007242.7(DDX19B):c.1148A>G (p.Lys383Arg)	DDX19A-DT, DDX19B (K274R +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514314	NM_007242.7(DDX19B):c.1151A>G (p.Glu384Gly)	DDX19A-DT, DDX19B (E233G +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378869	NM_007242.7(DDX19B):c.1198G>A (p.Glu400Lys)	DDX19A-DT, DDX19B +1 more (E291K +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080913	NM_007242.7(DDX19B):c.1250A>G (p.Asn417Ser)	DDX19A-DT, DDX19B +1 more (N266S +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3080914	NM_007242.7(DDX19B):c.1416C>A (p.Asp472Glu)	DDX19A-DT, DDX19B +1 more (D363E +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3271262	NM_007242.7(DDX19B):c.1420A>G (p.Ile474Val)	DDX19A-DT, DDX19B +1 more (I448V +5 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Items: 31