30525[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 61

	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 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 59514	GRCh38/hg38 16q22.1-23.1(chr16:69918076-76723348)x1	AARS1, ADAT1 +295 more	Copy number loss	See cases	GPathogenic
Select item 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	LOC130059850, LOC130059851 +1041 more	Copy number gain	See cases	GPathogenic
Select item 148421	GRCh38/hg38 16q22.1-24.3(chr16:70749398-90096995)x3	PKD1L2, PKD1L3 +1031 more	Copy number gain	See cases	GPathogenic
Select item 1707463	Single allele	AP1G1, CALB2 +36 more	Duplication	not specified	GUncertain significance
Select item 59995	GRCh38/hg38 16q22.2-22.3(chr16:71279916-73246687)x3	AP1G1, ATXN1L +99 more	Copy number gain	See cases	GUncertain significance
Select item 3293356	NM_052858.6(MARVELD3):c.16G>C (p.Gly6Arg)	MARVELD3 (G6R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407969	NM_052858.6(MARVELD3):c.32G>C (p.Arg11Pro)	MARVELD3 (R11P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2391461	NM_052858.6(MARVELD3):c.32G>A (p.Arg11Gln)	MARVELD3 (R11Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466538	NM_052858.6(MARVELD3):c.62G>T (p.Arg21Leu)	MARVELD3 (R21L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2390395	NM_052858.6(MARVELD3):c.68C>T (p.Pro23Leu)	MARVELD3 (P23L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123707	NM_052858.6(MARVELD3):c.82G>A (p.Gly28Ser)	MARVELD3 (G28S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389272	NM_052858.6(MARVELD3):c.94G>T (p.Asp32Tyr)	MARVELD3 (D32Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369615	NM_052858.6(MARVELD3):c.110G>A (p.Arg37Gln)	MARVELD3 (R37Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316870	NM_052858.6(MARVELD3):c.121C>A (p.Pro41Thr)	MARVELD3 (P41T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2531035	NM_052858.6(MARVELD3):c.145G>T (p.Gly49Trp)	MARVELD3 (G49W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123705	NM_052858.6(MARVELD3):c.183A>C (p.Arg61Ser)	MARVELD3 (R61S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2267602	NM_052858.6(MARVELD3):c.269G>T (p.Arg90Leu)	MARVELD3 (R90L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3123706	NM_052858.6(MARVELD3):c.310C>T (p.His104Tyr)	MARVELD3 (H104Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2360455	NM_052858.6(MARVELD3):c.322G>A (p.Glu108Lys)	MARVELD3 (E108K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2361064	NM_052858.6(MARVELD3):c.328C>A (p.Pro110Thr)	MARVELD3 (P110T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2379131	NM_052858.6(MARVELD3):c.358C>T (p.Arg120Trp)	MARVELD3 (R120W)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293357	NM_052858.6(MARVELD3):c.435G>T (p.Arg145Ser)	MARVELD3 (R145S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2383173	NM_052858.6(MARVELD3):c.448G>A (p.Gly150Arg)	MARVELD3 (G150R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3293358	NM_052858.6(MARVELD3):c.476C>T (p.Pro159Leu)	MARVELD3 (P159L +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2351821	NM_001017967.4(MARVELD3):c.681T>A (p.Ser227Arg)	MARVELD3 (S227R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3123704	NM_001017967.4(MARVELD3):c.1150G>A (p.Glu384Lys)	MARVELD3 (E384K)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3243655	NC_000016.9:g.(?_70286624)_(72146396_?)del	COG4, AARS1 +27 more	Deletion	not provided	GPathogenic
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AARS1, AP1G1 +51 more	Deletion	Immunodeficiency	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 2684813	GRCh37/hg19 16q22.1-23.2(chr16:70607067-81561138)x3	ADAMTS18, ADAT1 +67 more	Copy number gain	not provided	GPathogenic
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 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	CYB5B, DDX19A +127 more	Deletion	Dyskeratosis congenita, autosomal dominant 6	GUncertain significance
Select item 1809139	GRCh37/hg19 16q22.2(chr16:71422334-72110927)x4	AP1G1, ATXN1L +13 more	Copy number gain	not provided	GUncertain significance
Select item 1707627	GRCh37/hg19 16q22.2-24.3(chr16:71641395-90161959)x3	ACSF3, ADAD2 +150 more	Copy number gain	Syndromic anorectal malformation	GLikely pathogenic
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	AARS1, ABCC11 +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 973025	GRCh37/hg19 16q21-24.3(chr16:61524229-90155062)x3	AARS1, ACD +268 more	Copy number gain	not provided	Gnot provided
Select item 564341	GRCh37/hg19 16q22.2-22.3(chr16:71561717-73724195)x1	TAT, PHLPP2 +15 more	Copy number loss	not provided	GLikely pathogenic
Select item 564338	GRCh37/hg19 16q22.1-22.2(chr16:70646969-72849701)x1	CMTR2, IST1 +22 more	Copy number loss	not provided	GLikely pathogenic
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	CA7, COG8 +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	KCTD19, KIAA0513 +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	CBLN1, CCDC102A +591 more	Copy number gain	See cases	GUncertain significance
Select item 443121	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)x3	AARS1, ABAT +811 more	Copy number gain	See cases	GPathogenic
Select item 443120	GRCh37/hg19 16p13.3-q24.3(chr16:85881-90155062)	CCL22, CCNF +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	ABCC6, BCL7C +811 more	Copy number gain	See cases	GPathogenic
Select item 221525	GRCh37/hg19 16q22.2(chr16:71103288-72092204)x1	AP1G1, ATXN1L +14 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221392	GRCh37/hg19 16q11.2-24.3(chr16:46615804-90142285)x1	ATXN1L, B3GNT9 +368 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221345	Single allele	ADGRG5, CFAP263 +324 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 61