CLEC18A[gene] - ClinVar

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Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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	LOC130059618, LOC130059619 +1429 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 150599	GRCh38/hg38 16q21-24.3(chr16:65511483-90096995)x3	AARS1, ACD +1424 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 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	AARS1, ADAMTS18 +572 more	Copy number gain	See cases	GPathogenic
Select item 147385	GRCh38/hg38 16q22.1(chr16:69144650-70257882)x1	AARS1, CLEC18A +57 more	Copy number loss	See cases	GUncertain significance
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 3145613	NM_001370523.4(CLEC18A):c.34C>T (p.His12Tyr)	CLEC18A (H12Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2522111	NM_001370523.4(CLEC18A):c.41T>C (p.Leu14Pro)	CLEC18A (L14P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485743	NM_001370523.4(CLEC18A):c.49C>T (p.Leu17Phe)	CLEC18A (L17F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145615	NM_001370523.4(CLEC18A):c.50T>A (p.Leu17His)	CLEC18A (L17H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145616	NM_001370523.4(CLEC18A):c.71C>T (p.Ala24Val)	CLEC18A (A24V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145617	NM_001370523.4(CLEC18A):c.81G>C (p.Glu27Asp)	CLEC18A (E27D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490452	NM_001370523.4(CLEC18A):c.86G>T (p.Trp29Leu)	CLEC18A (W29L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145618	NM_001370523.4(CLEC18A):c.97C>A (p.Leu33Met)	CLEC18A (L33M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255752	NM_001370523.4(CLEC18A):c.110C>T (p.Ala37Val)	CLEC18A (A37V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2544235	NM_001370523.4(CLEC18A):c.121G>A (p.Gly41Arg)	CLEC18A (G41R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2327164	NM_001370523.4(CLEC18A):c.140A>G (p.Glu47Gly)	CLEC18A (E47G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345492	NM_001370523.4(CLEC18A):c.170G>A (p.Arg57His)	CLEC18A (R57H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345085	NM_001370523.4(CLEC18A):c.170G>T (p.Arg57Leu)	CLEC18A (R57L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145610	NM_001370523.4(CLEC18A):c.176G>A (p.Arg59His)	CLEC18A (R59H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407730	NM_001370523.4(CLEC18A):c.193C>T (p.Pro65Ser)	CLEC18A (P65S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2377439	NM_001370523.4(CLEC18A):c.207G>A (p.Met69Ile)	CLEC18A (M69I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145611	NM_001370523.4(CLEC18A):c.213G>T (p.Arg71Ser)	CLEC18A (R71S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3145612	NM_001370523.4(CLEC18A):c.308C>T (p.Thr103Ile)	CLEC18A (T103I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2373423	NM_001370523.4(CLEC18A):c.331C>A (p.Gln111Lys)	CLEC18A (Q111K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316417	NM_001370523.4(CLEC18A):c.341C>G (p.Pro114Arg)	CLEC18A (P114R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2564638	NM_001370523.4(CLEC18A):c.398G>A (p.Arg133Gln)	CLEC18A (R133Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2368980	NM_001370523.4(CLEC18A):c.416G>T (p.Gly139Val)	CLEC18A (G139V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474527	NM_001370523.4(CLEC18A):c.419A>T (p.Glu140Val)	CLEC18A (E140V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2400057	NM_001370523.4(CLEC18A):c.425C>T (p.Ala142Val)	CLEC18A (A142V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2240145	NM_001370523.4(CLEC18A):c.433G>A (p.Ala145Thr)	CLEC18A (A145T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2239970	NM_001370523.4(CLEC18A):c.442A>G (p.Thr148Ala)	CLEC18A (T148A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376870	NM_001370523.4(CLEC18A):c.521C>T (p.Ala174Val)	CLEC18A (A174V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2381024	NM_001370523.4(CLEC18A):c.553A>G (p.Arg185Gly)	CLEC18A (R185G)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2285221	NM_001370523.4(CLEC18A):c.1268G>C (p.Arg423Pro)	CLEC18A (R423P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394161	NM_001370523.4(CLEC18A):c.1280G>A (p.Arg427Gln)	CLEC18A (R427Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2323242	NM_001370523.4(CLEC18A):c.1291A>C (p.Ile431Leu)	CLEC18A (I431L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3243300	NC_000016.9:g.(?_68679283)_(72146396_?)del	AP1G1, AARS1 +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 2423664	NC_000016.9:g.(?_65821800)_(72146396_?)del	AARS1, ACD +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	SYCE1L, TAF1C +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 980686	GRCh37/hg19 16q22.1(chr16:69638086-70040372)x3	NQO1, CLEC18A +4 more	Copy number gain	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 688174	GRCh37/hg19 16q22.1(chr16:69701301-69988373)x1	CLEC18A, MIR140 +4 more	Copy number loss	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	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 443380	GRCh37/hg19 16q22.1(chr16:69771851-69988373)x1	CLEC18A, MIR140 +2 more	Copy number loss	See cases	GUncertain significance
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 442011	GRCh37/hg19 16q22.1(chr16:69385913-70336760)x1	AARS1, CLEC18A +12 more	Copy number loss	See cases	GUncertain significance
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 253974	GRCh37/hg19 16q22.1(chr16:69986596-70316676)x3	LOC400541, CLEC18A +4 more	Copy number gain	See cases	GUncertain significance
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

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Items: 68