ClinVar for Gene (Select 11060) - ClinVar

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Links from Gene

Items: 84

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AP1G1, AARS1 +51 more	Deletion	Immunodeficiency	GUncertain significance
Select item 3190919	NM_001270454.2(WWP2):c.938A>G (p.Asn313Ser)	WWP2 (N197S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190918	NM_001270454.2(WWP2):c.755G>A (p.Gly252Asp)	WWP2 (G136D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190917	NM_001270454.2(WWP2):c.725C>A (p.Ala242Asp)	WWP2 (A126D +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190916	NM_001270454.2(WWP2):c.574C>T (p.Arg192Trp)	WWP2 (R192W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190915	NM_001270454.2(WWP2):c.1393C>T (p.His465Tyr)	WWP2 (H465Y +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190913	NM_001270454.2(WWP2):c.1015C>T (p.Arg339Cys)	LOC126862385, WWP2 (R339C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3063446	GRCh37/hg19 16q22.1(chr16:67583728-69977397)x3	ACD, C16orf86 +48 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 2621202	NM_001270454.2(WWP2):c.1273C>G (p.His425Asp)	WWP2 (H425D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2621099	NM_001270454.2(WWP2):c.2309C>G (p.Thr770Ser)	WWP2 (T331S +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2610526	NM_001270454.2(WWP2):c.185G>A (p.Ser62Asn)	WWP2 (S62N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603738	NM_001270454.2(WWP2):c.560T>A (p.Phe187Tyr)	WWP2 (F71Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2561265	NM_001270454.2(WWP2):c.1860G>T (p.Lys620Asn)	WWP2 (K504N +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2547818	NM_001270454.2(WWP2):c.1621C>T (p.Arg541Cys)	WWP2 (R541C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2540996	NM_001270454.2(WWP2):c.2438T>C (p.Ile813Thr)	WWP2 (I374T +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2535306	NM_001270454.2(WWP2):c.178A>T (p.Ile60Phe)	WWP2 (I60F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2530785	NM_001270454.2(WWP2):c.708T>A (p.Asn236Lys)	WWP2 (N120K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517470	NM_001270454.2(WWP2):c.22C>T (p.Arg8Trp)	WWP2 (R8W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516609	NM_001270454.2(WWP2):c.767C>T (p.Pro256Leu)	WWP2 (P256L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2488722	NM_001270454.2(WWP2):c.865A>G (p.Thr289Ala)	WWP2 (T289A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483010	NM_001270454.2(WWP2):c.415A>G (p.Ile139Val)	WWP2 (I139V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466410	NM_001270454.2(WWP2):c.440A>G (p.Asp147Gly)	WWP2 (D147G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460193	NM_001270454.2(WWP2):c.1430C>T (p.Pro477Leu)	WWP2 (P38L +2 more)	Single nucleotide variant (missense variant)	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 2378796	NM_001270454.2(WWP2):c.748G>A (p.Val250Ile)	WWP2 (V134I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355321	NM_001270454.2(WWP2):c.476A>C (p.Asp159Ala)	WWP2 (D43A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349611	NM_001270454.2(WWP2):c.514G>C (p.Ala172Pro)	WWP2 (A56P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346880	NM_001270454.2(WWP2):c.2331G>C (p.Gln777His)	WWP2 (Q661H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2340789	NM_001270454.2(WWP2):c.2195C>T (p.Ala732Val)	WWP2 (A293V +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319061	NM_001270454.2(WWP2):c.590C>G (p.Ser197Trp)	WWP2 (S197W +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317470	NM_001270454.2(WWP2):c.1000C>G (p.Pro334Ala)	WWP2 (P218A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2308330	NM_001270454.2(WWP2):c.1237A>G (p.Lys413Glu)	WWP2 (K297E +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2300298	NM_001270454.2(WWP2):c.2331G>T (p.Gln777His)	WWP2 (Q661H +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2293202	NM_001270454.2(WWP2):c.1567A>G (p.Thr523Ala)	WWP2 (T407A +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2290675	NM_001270454.2(WWP2):c.2216A>G (p.Tyr739Cys)	WWP2 (Y300C +2 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285422	NM_001270454.2(WWP2):c.1199A>G (p.Asp400Gly)	WWP2 (D400G +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2283798	NM_001270454.2(WWP2):c.1055A>G (p.Asn352Ser)	LOC126862385, WWP2 (N236S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264135	NM_001270454.2(WWP2):c.167C>A (p.Thr56Asn)	WWP2 (T56N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255227	NM_001270454.2(WWP2):c.383A>C (p.Lys128Thr)	WWP2 (K128T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2243437	NM_001270454.2(WWP2):c.806C>T (p.Thr269Met)	WWP2 (T269M +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223296	NM_001270454.2(WWP2):c.944G>A (p.Arg315His)	WWP2 (R199H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2217096	NM_001270454.2(WWP2):c.335G>A (p.Gly112Asp)	WWP2 (G112D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2206725	NM_001270454.2(WWP2):c.2483A>G (p.Lys828Arg)	WWP2 (K828R +2 more)	Single nucleotide variant (missense variant)	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 1441673	NC_000016.9:g.(?_69680960)_(72146396_?)dup	AARS1, AP1G1 +37 more	Duplication	Immunodeficiency	GUncertain significance
Select item 980688	GRCh37/hg19 16q22.1(chr16:69369131-69942990)x3	NIP7, NFAT5 +7 more	Copy number gain	not provided	GUncertain significance
Select item 980686	GRCh37/hg19 16q22.1(chr16:69638086-70040372)x3	NQO1, CLEC18A +4 more	Copy number gain	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 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 789226	NM_001270454.2(WWP2):c.543C>T (p.Pro181=)	WWP2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 722885	NM_001270454.2(WWP2):c.590C>T (p.Ser197Leu)	WWP2 (S197L +1 more)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 688174	GRCh37/hg19 16q22.1(chr16:69701301-69988373)x1	CLEC18A, MIR140 +4 more	Copy number loss	not provided	GUncertain significance
Select item 685807	GRCh37/hg19 16q22.1(chr16:69814610-69941373)x1	WWP2	Copy number loss	not provided	GUncertain significance
Select item 599186	NM_001270454.2(WWP2):c.1683-866A>G	MIR140, WWP2	Single nucleotide variant (non-coding transcript variant +1 more)	Spondyloepiphyseal dysplasia, nishimura type +1 more	GPathogenic
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 547141	GRCh37/hg19 16q22.1(chr16:69865323-69976962)x3	MIR140, WWP2	Copy number gain	not provided	GLikely benign
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 443380	GRCh37/hg19 16q22.1(chr16:69771851-69988373)x1	CLEC18A, MIR140 +2 more	Copy number loss	See cases	GUncertain significance
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 442754	GRCh37/hg19 16q22.1(chr16:69369131-69941373)x3	COG8, CYB5B +7 more	Copy number gain	See cases	GUncertain significance
Select item 442214	GRCh37/hg19 16q13-24.3(chr16:57051473-89797669)x3	AARS1, ACD +292 more	Copy number gain	See cases	GPathogenic
Select item 442011	GRCh37/hg19 16q22.1(chr16:69385913-70336760)x1	AARS1, CLEC18A +12 more	Copy number loss	See cases	GUncertain significance
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 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 147385	GRCh38/hg38 16q22.1(chr16:69144650-70257882)x1	AARS1, CLEC18A +57 more	Copy number loss	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

ClinVar

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Links from Gene

Items: 84