ClinVar for Gene (Select 146456) - ClinVar

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Links from Gene

Items: 49

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AARS1, AP1G1 +51 more	Deletion	Immunodeficiency	GUncertain significance
Select item 3178367	NM_144676.4(TMED6):c.682A>G (p.Asn228Asp)	TMED6 (N228D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178366	NM_144676.4(TMED6):c.5C>G (p.Ser2Cys)	TMED6 (S2C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178365	NM_144676.4(TMED6):c.526A>G (p.Met176Val)	TMED6 (M176V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178364	NM_144676.4(TMED6):c.380T>C (p.Phe127Ser)	TMED6 (F127S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178363	NM_144676.4(TMED6):c.301G>T (p.Gly101Cys)	TMED6 (G101C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178362	NM_144676.4(TMED6):c.250G>A (p.Val84Ile)	TMED6 (V84I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3178361	NM_144676.4(TMED6):c.226G>A (p.Val76Met)	TMED6 (V76M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3178360	NM_144676.4(TMED6):c.100C>T (p.Pro34Ser)	TMED6 (P34S)	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 2684810	GRCh37/hg19 16q22.1(chr16:68292285-69424236)x3	CDH1, CDH3 +17 more	Copy number gain	not provided	GUncertain significance
Select item 2607336	NM_144676.4(TMED6):c.113G>A (p.Gly38Glu)	TMED6 (G38E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2519232	NM_144676.4(TMED6):c.515A>G (p.Asn172Ser)	TMED6 (N172S)	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 2391046	NM_144676.4(TMED6):c.311G>A (p.Gly104Asp)	TMED6 (G104D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352858	NM_144676.4(TMED6):c.674G>A (p.Arg225His)	TMED6 (R225H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2341573	NM_144676.4(TMED6):c.278G>A (p.Gly93Glu)	TMED6 (G93E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2227341	NM_144676.4(TMED6):c.155G>A (p.Gly52Asp)	TMED6 (G52D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2219210	NM_144676.4(TMED6):c.138C>G (p.Ile46Met)	TMED6 (I46M)	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 1526514	GRCh37/hg19 16q22.1(chr16:68850677-69377553)	SNTB2, CDH1 +9 more	Copy number gain	not specified	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 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 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 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 395502	GRCh37/hg19 16p13.3-q24.3(chr16:69193-90274381)x3	DPEP2, DPEP3 +811 more	Copy number gain	See cases	GPathogenic
Select item 395368	GRCh37/hg19 16q22.1(chr16:69373754-69377422)x3	NIP7, TMED6	Copy number gain	See cases	GUncertain significance
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 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 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: 49