ClinVar for Gene (Select 55308) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243655	NC_000016.9:g.(?_70286624)_(72146396_?)del	AARS1, AP1G1 +27 more	Deletion	not provided	GPathogenic
Select item 3243569	NC_000016.9:g.(?_70305664)_(70834803_?)dup	FCSK, DDX19B +8 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AP1G1, AARS1 +51 more	Deletion	Immunodeficiency	GUncertain significance
Select item 3080912	NM_018332.5(DDX19A):c.658G>A (p.Val220Met)	DDX19A (V130M +5 more)	Single nucleotide variant (missense variant +1 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 3080910	NM_018332.5(DDX19A):c.430A>T (p.Thr144Ser)	DDX19A (T113S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3080909	NM_018332.5(DDX19A):c.359A>T (p.Asn120Ile)	DDX19A (N120I +2 more)	Single nucleotide variant (missense variant +3 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 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 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 2646681	NM_018332.5(DDX19A):c.907C>T (p.Leu303=)	DDX19A	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
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 2474076	NM_018332.5(DDX19A):c.1135C>G (p.Arg379Gly)	DDX19A (R289G +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 2364347	NM_018332.5(DDX19A):c.1091G>C (p.Gly364Ala)	DDX19A (G214A +5 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 +5 more)	Single nucleotide variant (missense variant +1 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 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 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 2257257	NM_018332.5(DDX19A):c.370A>G (p.Met124Val)	DDX19A (M125V +2 more)	Single nucleotide variant (missense variant +3 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 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 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	SYCE1L, TAF1C +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 656813	NC_000016.9:g.(?_70286614)_(70669268_?)dup	AARS1, COG4 +27 more	Duplication	Charcot-Marie-Tooth disease type 2	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	AARS1, ABCC11 +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	ADCY7, ADGRG1 +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	AARS1, ABCC1 +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	ZC3H7A, ZCCHC14 +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	AARS1, ABAT +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	DPEP2, DPEP3 +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	GALNS, GAN +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	SLC7A6, SLC7A6OS +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 155675	GRCh38/hg38 16q21-23.3(chr16:65957829-83611443)x3	LOC130059185, LOC130059186 +869 more	Copy number gain	See cases	GPathogenic
Select item 155358	GRCh38/hg38 16q12.2-24.3(chr16:52899183-90088654)x3	LOC130059149, LOC130059150 +1738 more	Copy number gain	See cases	GPathogenic
Select item 154511	GRCh38/hg38 16q21-24.3(chr16:64389378-90081985)x3	LOC130059618, LOC130059619 +1429 more	Copy number gain	See cases	GPathogenic
Select item 153758	GRCh38/hg38 16q22.1-23.3(chr16:69053457-83274681)x3	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 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 146601	GRCh38/hg38 16q21-24.1(chr16:62925929-84585795)x3	AARS1, ACD +939 more	Copy number gain	See cases	GPathogenic
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 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 58645	GRCh38/hg38 16q21-24.3(chr16:65313395-90081985)x3	AARS1, ACD +1426 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 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 62