ClinVar for Gene (Select 1506) - ClinVar

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Links from Gene

Items: 57

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3078738	NM_001907.3(CTRL):c.637G>A (p.Asp213Asn)	CTRL (D213N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078737	NM_001907.3(CTRL):c.562C>T (p.Arg188Trp)	CTRL (R188W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078736	NM_001907.3(CTRL):c.475G>A (p.Gly159Ser)	CTRL (G159S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078735	NM_001907.3(CTRL):c.44C>A (p.Ser15Tyr)	CTRL (S15Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078734	NM_001907.3(CTRL):c.40G>A (p.Gly14Ser)	CTRL (G14S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078733	NM_001907.3(CTRL):c.335G>A (p.Ser112Asn)	CTRL (S112N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3078732	NM_001907.3(CTRL):c.310G>C (p.Val104Leu)	CTRL (V104L)	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 2684809	GRCh37/hg19 16q22.1(chr16:67498380-68754276)x3	ACD, AGRP +33 more	Copy number gain	not provided	GUncertain significance
Select item 2613527	NM_001907.3(CTRL):c.108C>A (p.Asn36Lys)	CTRL (N36K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570460	NM_001907.3(CTRL):c.602G>A (p.Cys201Tyr)	CTRL (C201Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2550191	NM_001907.3(CTRL):c.364G>A (p.Val122Met)	CTRL (V122M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2508890	NM_001907.3(CTRL):c.563G>A (p.Arg188Gln)	CTRL (R188Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2470875	NM_001907.3(CTRL):c.485G>A (p.Arg162His)	CTRL (R162H)	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 2378981	NM_001907.3(CTRL):c.110G>A (p.Gly37Glu)	CTRL (G37E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2367297	NM_001907.3(CTRL):c.265G>A (p.Glu89Lys)	CTRL (E89K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342168	NM_001907.3(CTRL):c.658T>G (p.Cys220Gly)	CTRL (C220G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2291564	NM_001907.3(CTRL):c.173A>G (p.His58Arg)	CTRL (H58R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2281501	NM_001907.3(CTRL):c.697T>C (p.Ser233Pro)	CTRL (S233P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241515	NM_001907.3(CTRL):c.280T>C (p.Ser94Pro)	CTRL (S94P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235216	NM_001907.3(CTRL):c.688G>A (p.Gly230Ser)	CTRL (G230S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2213147	NM_001907.3(CTRL):c.79G>A (p.Ala27Thr)	CTRL (A27T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 980684	GRCh37/hg19 16q22.1(chr16:67765964-68246270)x1	TSNAXIP1, PSMB10 +15 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 815823	GRCh37/hg19 16q21-22.1(chr16:65669673-70180183)x1	EXOC3L1, ESRP2 +95 more	Copy number loss	not provided	GPathogenic
Select item 788454	NM_001907.3(CTRL):c.451G>C (p.Glu151Gln)	CTRL (E151Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 785535	NM_001907.3(CTRL):c.144G>C (p.Gln48His)	CTRL (Q48H)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 779969	NM_001907.3(CTRL):c.223C>T (p.His75Tyr)	CTRL (H75Y)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 721987	NM_001907.3(CTRL):c.108C>T (p.Asn36=)	CTRL	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 709489	NM_001907.3(CTRL):c.210G>T (p.Val70=)	CTRL	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 707955	NM_001907.3(CTRL):c.58G>A (p.Gly20Ser)	CTRL (G20S)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 625609	GRCh37/hg19 16q22.1(chr16:67132790-68166320)	ACD, AGRP +47 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 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 395249	GRCh37/hg19 16q22.1(chr16:67654566-68404073)x1	ACD, C16orf86 +28 more	Copy number loss	See cases	GLikely pathogenic
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 207886	NM_001907.3(CTRL):c.217G>A (p.Ala73Thr)	CTRL (A73T)	Single nucleotide variant (missense variant)	Long QT syndrome	GLikely benign
Select item 155685	GRCh38/hg38 16q12.1-22.1(chr16:49685521-68401712)x3	LOC130059125, LOC130059126 +675 more	Copy number gain	See cases	GPathogenic
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 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 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 59493	GRCh38/hg38 16q21-22.1(chr16:64311275-68062011)x1	ACD, AGRP +217 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: 57