10863[HGNC] - ClinVar

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Items: 65

	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 58630	GRCh38/hg38 16q13-22.2(chr16:56883592-71279975)x3	LOC130059330, LOC130059331 +599 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 656813	NC_000016.9:g.(?_70286614)_(70669268_?)dup	AARS1, COG4 +27 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 2225195	NM_006927.4(ST3GAL2):c.1010T>C (p.Met337Thr)	ST3GAL2 (M337T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322936	NM_006927.4(ST3GAL2):c.944G>C (p.Arg315Pro)	ST3GAL2 (R315P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2489169	NM_006927.4(ST3GAL2):c.886G>C (p.Val296Leu)	ST3GAL2 (V296L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170629	NM_006927.4(ST3GAL2):c.578G>A (p.Ser193Asn)	ST3GAL2 (S193N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319371	NM_006927.4(ST3GAL2):c.444G>C (p.Gln148His)	ST3GAL2 (Q148H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2344176	NM_006927.4(ST3GAL2):c.406C>T (p.Pro136Ser)	ST3GAL2 (P136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2398241	NM_006927.4(ST3GAL2):c.358A>G (p.Lys120Glu)	ST3GAL2 (K120E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 91971	NM_006927.4(ST3GAL2):c.341T>C (p.Met114Thr)	ST3GAL2 (M114T)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3170628	NM_006927.4(ST3GAL2):c.340A>T (p.Met114Leu)	ST3GAL2 (M114L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2216158	NM_006927.4(ST3GAL2):c.305T>C (p.Met102Thr)	ST3GAL2 (M102T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317512	NM_006927.4(ST3GAL2):c.271G>A (p.Gly91Ser)	ST3GAL2 (G91S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2223742	NM_006927.4(ST3GAL2):c.221G>A (p.Arg74His)	ST3GAL2 (R74H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170627	NM_006927.4(ST3GAL2):c.190A>T (p.Arg64Trp)	ST3GAL2 (R64W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3170626	NM_006927.4(ST3GAL2):c.149T>C (p.Leu50Pro)	ST3GAL2 (L50P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2509975	NM_006927.4(ST3GAL2):c.134C>T (p.Thr45Met)	ST3GAL2 (T45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322935	NM_006927.4(ST3GAL2):c.119G>A (p.Gly40Glu)	ST3GAL2 (G40E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2304503	NM_006927.4(ST3GAL2):c.118G>C (p.Gly40Arg)	ST3GAL2 (G40R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3322934	NM_006927.4(ST3GAL2):c.103C>G (p.Pro35Ala)	ST3GAL2 (P35A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 3653	NC_000016.10:g.(70426035_70473004)_(70512433_70519648)del	COG4, FCSK +8 more	Deletion	COG4-congenital disorder of glycosylation	GPathogenic
Select item 3255478	NC_000016.9:g.(?_48799549)_(70756330_?)dup	PRMT7, PRSS54 +195 more	Duplication	Chromosome 16q12 duplication syndrome	GLikely pathogenic
Select item 3243655	NC_000016.9:g.(?_70286624)_(72146396_?)del	COG4, AARS1 +27 more	Deletion	not provided	GPathogenic
Select item 3243569	NC_000016.9:g.(?_70305664)_(70834803_?)dup	DDX19B, FCSK +8 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AARS1, AP1G1 +51 more	Deletion	Immunodeficiency	GUncertain significance
Select item 3063458	GRCh37/hg19 16q22.1(chr16:70180112-70650383)x3	AARS1, CLEC18C +10 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 2684812	GRCh37/hg19 16q22.1(chr16:70305107-70594202)x3	AARS1, COG4 +5 more	Copy number gain	not provided	GUncertain significance
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 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 1526516	GRCh37/hg19 16q22.1-22.2(chr16:70273406-70960990)	HYDIN, IL34 +10 more	Copy number gain	not specified	GUncertain significance
Select item 1526515	GRCh37/hg19 16q22.1(chr16:70024576-70673886)	LOC400541, PDPR +10 more	Copy number gain	not specified	GUncertain significance
Select item 1441673	NC_000016.9:g.(?_69680960)_(72146396_?)dup	AARS1, AP1G1 +37 more	Duplication	Immunodeficiency	GUncertain significance
Select item 1340701	GRCh37/hg19 16q22.1-22.2(chr16:70272361-70983737)x1	AARS1, COG4 +10 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 870558	GRCh37/hg19 16q22.1(chr16:70185757-70416579)x3	DDX19A, DDX19B +6 more	Copy number gain	Abnormal peripheral nervous system morphology	GUncertain significance
Select item 815825	GRCh37/hg19 16q22.1(chr16:70381448-70627356)x3	IL34, ST3GAL2 +4 more	Copy number gain	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 686715	GRCh37/hg19 16q22.1(chr16:70393149-70798654)x3	COG4, DDX19A +6 more	Copy number gain	not provided	GUncertain significance
Select item 685008	GRCh37/hg19 16q22.1-22.2(chr16:70277618-70917102)x4	AARS1, COG4 +10 more	Copy number gain	not provided	GUncertain significance
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 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	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: 65