10164[Gene ID] - ClinVar

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Items: 74

	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 148810	GRCh38/hg38 16q22.1-22.2(chr16:69918076-71541872)x3	AARS1, CALB2 +84 more	Copy number gain	See cases	GUncertain significance
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 2318006	NM_001166395.2(CHST4):c.68T>A (p.Phe23Tyr)	CHST4 (F23Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2209925	NM_001166395.2(CHST4):c.115C>G (p.Gln39Glu)	CHST4 (Q39E)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2346092	NM_001166395.2(CHST4):c.125G>A (p.Arg42His)	CHST4 (R42H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2247273	NM_001166395.2(CHST4):c.133G>A (p.Val45Met)	CHST4 (V45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211879	NM_001166395.2(CHST4):c.192G>T (p.Gln64His)	CHST4 (Q64H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144743	NM_001166395.2(CHST4):c.232G>A (p.Val78Met)	CHST4 (V78M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2321253	NM_001166395.2(CHST4):c.316A>G (p.Met106Val)	CHST4 (M106V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2355639	NM_001166395.2(CHST4):c.322G>A (p.Val108Ile)	CHST4 (V108I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544272	NM_001166395.2(CHST4):c.367C>G (p.Leu123Val)	CHST4 (L123V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2460417	NM_001166395.2(CHST4):c.388C>T (p.Arg130Trp)	CHST4 (R130W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267234	NM_001166395.2(CHST4):c.397T>C (p.Cys133Arg)	CHST4 (C133R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378260	NM_001166395.2(CHST4):c.445C>T (p.Arg149Trp)	CHST4 (R149W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361485	NM_001166395.2(CHST4):c.446G>A (p.Arg149Gln)	CHST4 (R149Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2331416	NM_001166395.2(CHST4):c.469A>G (p.Ser157Gly)	CHST4 (S157G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2235765	NM_001166395.2(CHST4):c.469A>T (p.Ser157Cys)	CHST4 (S157C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2203947	NM_001166395.2(CHST4):c.499G>T (p.Ala167Ser)	CHST4 (A167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2380790	NM_001166395.2(CHST4):c.595C>T (p.His199Tyr)	CHST4 (H199Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2534032	NM_001166395.2(CHST4):c.622C>T (p.Arg208Trp)	CHST4 (R208W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267231	NM_001166395.2(CHST4):c.632T>G (p.Phe211Cys)	CHST4 (F211C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2619909	NM_001166395.2(CHST4):c.641G>A (p.Arg214Gln)	CHST4 (R214Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144744	NM_001166395.2(CHST4):c.647G>A (p.Arg216His)	CHST4 (R216H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2297789	NM_001166395.2(CHST4):c.647G>T (p.Arg216Leu)	CHST4 (R216L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2387578	NM_001166395.2(CHST4):c.674G>A (p.Ser225Asn)	CHST4 (S225N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144745	NM_001166395.2(CHST4):c.677G>A (p.Arg226His)	CHST4 (R226H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3267235	NM_001166395.2(CHST4):c.698A>C (p.Glu233Ala)	CHST4 (E233A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267230	NM_001166395.2(CHST4):c.866G>T (p.Arg289Leu)	CHST4 (R289L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2613870	NM_001166395.2(CHST4):c.877T>C (p.Phe293Leu)	CHST4 (F293L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144746	NM_001166395.2(CHST4):c.941G>T (p.Gly314Val)	CHST4 (G314V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492035	NM_001166395.2(CHST4):c.950A>G (p.Asp317Gly)	CHST4 (D317G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3267232	NM_001166395.2(CHST4):c.998C>T (p.Ala333Val)	CHST4 (A333V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3144741	NM_001166395.2(CHST4):c.1072G>A (p.Gly358Ser)	CHST4, LOC125177348 (G358S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319570	NM_001166395.2(CHST4):c.1073G>C (p.Gly358Ala)	CHST4, LOC125177348 (G358A)	Single nucleotide variant (missense variant)	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 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 815826	GRCh37/hg19 16q22.2(chr16:71391112-71591834)x1	ZNF23, CHST4 +2 more	Copy number loss	not provided	GUncertain significance
Select item 687301	GRCh37/hg19 16q22.1-22.2(chr16:70467293-71560136)x3	CALB2, CHST4 +11 more	Copy number gain	not provided	GUncertain significance
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

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Items: 74