ClinVar for Gene (Select 146433) - ClinVar

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Links from Gene

Items: 62

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3109405	NM_001393494.1(IL34):c.7C>T (p.Arg3Trp)	IL34 (R3W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109404	NM_001393494.1(IL34):c.646C>T (p.Pro216Ser)	IL34 (P190S +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3109403	NM_001393494.1(IL34):c.364G>A (p.Val122Met)	IL34 (V121M +3 more)	Single nucleotide variant (missense variant)	not specified	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 3060450	NM_001393494.1(IL34):c.468G>A (p.Leu156=)	IL34	Single nucleotide variant (synonymous variant)	IL34-related disorder	GLikely benign
Select item 3037865	NM_001393494.1(IL34):c.695C>T (p.Pro232Leu)	IL34 (P206L +3 more)	Single nucleotide variant (missense variant)	IL34-related disorder	GLikely benign
Select item 3037658	NM_001393494.1(IL34):c.169T>C (p.Tyr57His)	IL34 (Y32H +1 more)	Single nucleotide variant (missense variant)	IL34-related disorder	GLikely benign
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 2613989	NM_001393494.1(IL34):c.101A>G (p.Glu34Gly)	IL34 (E9G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569798	NM_001393494.1(IL34):c.223G>A (p.Ala75Thr)	IL34 (A50T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2495697	NM_001393494.1(IL34):c.149G>A (p.Arg50Gln)	IL34 (R25Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2475928	NM_001393494.1(IL34):c.433G>A (p.Val145Met)	IL34 (V119M +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2426425	NC_000016.9:g.(?_70497094)_(70834803_?)dup	COG4, FCSK +4 more	Duplication	not provided	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 2354992	NM_001393494.1(IL34):c.288G>C (p.Leu96Phe)	IL34 (L71F +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2311850	NM_001393494.1(IL34):c.514A>T (p.Met172Leu)	IL34 (M146L +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2310210	NM_001393494.1(IL34):c.425T>C (p.Val142Ala)	IL34 (V116A +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1808393	GRCh37/hg19 16q22.1(chr16:70510947-70623900)x1	COG4, FCSK +2 more	Copy number loss	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	SYCE1L, TAF1C +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 815825	GRCh37/hg19 16q22.1(chr16:70381448-70627356)x3	IL34, ST3GAL2 +4 more	Copy number gain	not provided	GUncertain significance
Select item 786945	NM_001393494.1(IL34):c.609C>T (p.Pro203=)	IL34	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 770634	NM_001393494.1(IL34):c.241-5C>T	IL34	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 733439	NM_001393494.1(IL34):c.47G>C (p.Gly16Ala)	IL34 (G16A)	Single nucleotide variant (missense variant +1 more)	not provided	GLikely benign
Select item 714712	NM_001393494.1(IL34):c.462A>G (p.Pro154=)	IL34	Single nucleotide variant (synonymous variant)	not provided	GBenign
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 656813	NC_000016.9:g.(?_70286614)_(70669268_?)dup	AARS1, COG4 +27 more	Duplication	Charcot-Marie-Tooth disease type 2	GUncertain significance
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	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 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 148810	GRCh38/hg38 16q22.1-22.2(chr16:69918076-71541872)x3	AARS1, CALB2 +84 more	Copy number gain	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 144332	GRCh38/hg38 16q22.1-24.1(chr16:70414573-84908120)x1	ADAD2, ADAMTS18 +591 more	Copy number loss	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 59495	GRCh38/hg38 16q22.1-23.1(chr16:68698941-74353205)x1	AARS1, AP1G1 +263 more	Copy number loss	See cases	GPathogenic
Select item 58646	GRCh38/hg38 16q22.1-24.3(chr16:70514631-90081985)x3	HSBP1, HSD17B2 +1041 more	Copy number gain	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

ClinVar

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Links from Gene

Items: 62