LILRA6[gene] - ClinVar

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Items: 44

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	ZBTB45, ZFP28 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064933, LOC130064934 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	MIR10394, MIR125A +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	A1BG, A1BG-AS1 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LILRA4, LILRA5 +761 more	Copy number gain	See cases	GPathogenic
Select item 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 more	Copy number gain	See cases	GPathogenic
Select item 153721	GRCh38/hg38 19q13.41-13.43(chr19:52143873-58445521)x3	A1BG, A1BG-AS1 +547 more	Copy number gain	See cases	GPathogenic
Select item 144762	GRCh38/hg38 19q13.41-13.43(chr19:52612432-58581203)x3	SSC5D, SYT5 +553 more	Copy number gain	See cases	GPathogenic
Select item 144709	GRCh38/hg38 19q13.41-13.43(chr19:52955056-58581203)x3	TMC4, TMEM150B +537 more	Copy number gain	See cases	GPathogenic
Select item 2650428	NM_006864.4(LILRB3):c.1096C>T (p.Leu366=)	LILRA6, LILRB3	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2650429	NM_006864.4(LILRB3):c.1095A>G (p.Pro365=)	LILRB3, LILRA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2253439	NM_024318.5(LILRA6):c.1368G>C (p.Leu456Phe)	LILRA6 (L456F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650430	NM_024318.5(LILRA6):c.1290A>T (p.Thr430=)	LILRA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 2353050	NM_024318.5(LILRA6):c.1133A>G (p.Gln378Arg)	LILRA6 (Q378R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2650431	NM_024318.5(LILRA6):c.1050= (p.Gln350=)	LILRA6 (Y350*)	Variation (nonsense +2 more)	not provided	GLikely benign
Select item 2341891	NM_024318.5(LILRA6):c.1048= (p.Gln350=)	LILRA6 (Y350H)	Variation (missense variant +2 more)	not specified	GUncertain significance
Select item 2341890	NM_024318.5(LILRA6):c.1045= (p.Trp349=)	LILRA6 (G349W +1 more)	Variation (missense variant +2 more)	not specified	GUncertain significance
Select item 2333455	NM_024318.5(LILRA6):c.973G>A (p.Val325Ile)	LILRA6 (V325I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2237410	NM_024318.5(LILRA6):c.904C>T (p.Leu302Phe)	LILRA6 (L302F)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411575	NM_024318.5(LILRA6):c.862C>G (p.Pro288Ala)	LILRA6 (P288A +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2411574	NM_024318.5(LILRA6):c.861C>G (p.Ser287Arg)	LILRA6 (S287R)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 2350360	NM_024318.5(LILRA6):c.847C>G (p.Leu283Val)	LILRA6 (L283V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3118772	NM_024318.5(LILRA6):c.770A>G (p.Tyr257Cys)	LILRA6 (Y257C)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2355544	NM_024318.5(LILRA6):c.754G>A (p.Asp252Asn)	LILRA6 (D252N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3024977	NM_024318.5(LILRA6):c.726C>T (p.Thr242=)	LILRA6	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 403040	NM_024318.5(LILRA6):c.614G>A (p.Arg205Gln)	LILRA6 (R205Q +1 more)	Single nucleotide variant (nonsense +1 more)	not specified	GBenign
Select item 2684892	GRCh37/hg19 19q13.33-13.43(chr19:49625130-57647352)x3	ACP4, ADM5 +261 more	Copy number gain	not provided	GLikely pathogenic
Select item 2672793	GRCh37/hg19 19q13.42(chr19:54544215-54881884)x3	CNOT3, LAIR1 +18 more	Copy number gain	not provided	GUncertain significance
Select item 1443808	NC_000019.9:g.(?_54297303)_(55678016_?)dup	TSEN34, TTYH1 +51 more	Duplication	not provided	GUncertain significance
Select item 980772	GRCh37/hg19 19q13.42-13.43(chr19:54334195-56434037)x3	TMC4, TMEM150B +87 more	Copy number gain	not provided	GUncertain significance
Select item 980771	GRCh37/hg19 19q13.42(chr19:54659105-54916280)x3	CNOT3, LAIR1 +12 more	Copy number gain	not provided	GUncertain significance
Select item 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	FLT3LG, FPR1 +308 more	Copy number gain	not provided	GPathogenic
Select item 816093	GRCh37/hg19 19q13.42(chr19:54701333-55536206)x3	CDC42EP5, FCAR +28 more	Copy number gain	not provided	GUncertain significance
Select item 816092	GRCh37/hg19 19q13.42(chr19:54474844-55181741)x3	CACNG6, CACNG8 +29 more	Copy number gain	not provided	GUncertain significance
Select item 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564602	GRCh37/hg19 19q13.42(chr19:53867570-55833460)x3	BRSK1, CACNG6 +68 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395635	GRCh37/hg19 19q13.42(chr19:54726783-54746032)x1	LILRA6, LILRB3	Copy number loss	See cases	GBenign
Select item 395634	GRCh37/hg19 19q13.42(chr19:54726783-54746032)x3	LILRA6, LILRB3	Copy number gain	See cases	GBenign
Select item 394573	GRCh37/hg19 19q13.42(chr19:54726783-54844690)x3	LILRA3, LILRA5 +4 more	Copy number gain	See cases	GBenign
Select item 394342	GRCh37/hg19 19q13.33-13.43(chr19:50489390-59095359)x3	A1BG, ACP4 +280 more	Copy number gain	See cases	GPathogenic
Select item 394329	GRCh37/hg19 19q13.42(chr19:54726783-54744331)x1	LILRA6, LILRB3	Copy number loss	See cases	GBenign
Select item 221404	GRCh37/hg19 19q13.42(chr19:54710237-55648526)x1	LILRB3, CDC42EP5 +32 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance

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Items: 44