KIR2DL3[gene] - ClinVar

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Items: 67

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 147949	GRCh37/hg19 19q13.42(chr19:55028722-55683018)x3	FCAR, KIR2DL1 +19 more	Copy number gain	See cases	GUncertain significance
Select item 59116	GRCh38/hg38 19q13.33-13.43(chr19:47908540-58539965)x3	LOC130064925, LOC130064926 +1081 more	Copy number gain	See cases	GPathogenic
Select item 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
Select item 59126	GRCh38/hg38 19q13.33-13.43(chr19:49907832-58557889)x3	LOC130065082, LOC130065083 +806 more	Copy number gain	See cases	GPathogenic
Select item 146579	GRCh38/hg38 19q13.33-13.43(chr19:50152520-58581203)x3	OSCAR, PEG3 +782 more	Copy number gain	See cases	GPathogenic
Select item 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +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 2650459	NM_015868.3(KIR2DL3):c.6G>A (p.Ser2=)	KIR2DL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2398047	NM_015868.3(KIR2DL3):c.10A>C (p.Met4Leu)	KIR2DL3 (M4L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2570259	NM_015868.3(KIR2DL3):c.49C>A (p.Gln17Lys)	KIR2DL3 (Q17K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345103	NM_015868.3(KIR2DL3):c.58T>G (p.Trp20Gly)	KIR2DL3 (W20G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161697	NM_015868.3(KIR2DL3):c.71-4C>T	KIR2DL3	Single nucleotide variant (intron variant)	Malignant tumor of prostate	GUncertain significance
Select item 2220374	NM_015868.3(KIR2DL3):c.71G>A (p.Gly24Glu)	KIR2DL3 (G24E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558978	NM_015868.3(KIR2DL3):c.109C>T (p.Pro37Ser)	KIR2DL3 (P37S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115078	NM_015868.3(KIR2DL3):c.113T>A (p.Leu38Gln)	KIR2DL3 (L38Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115079	NM_015868.3(KIR2DL3):c.136A>T (p.Ile46Phe)	KIR2DL3 (I46F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264502	NM_015868.3(KIR2DL3):c.161G>T (p.Arg54Met)	KIR2DL3 (R54M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2280729	NM_015868.3(KIR2DL3):c.183C>A (p.His61Gln)	KIR2DL3 (H61Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2345771	NM_015868.3(KIR2DL3):c.201G>C (p.Lys67Asn)	KIR2DL3 (K67N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517993	NM_015868.3(KIR2DL3):c.226C>A (p.His76Asn)	KIR2DL3 (H76N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2482195	NM_015868.3(KIR2DL3):c.263G>T (p.Gly88Val)	KIR2DL3 (G88V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553906	NM_015868.3(KIR2DL3):c.266C>G (p.Pro89Arg)	KIR2DL3 (P89R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553907	NM_015868.3(KIR2DL3):c.272T>C (p.Met91Thr)	KIR2DL3 (M91T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3288700	NM_015868.3(KIR2DL3):c.313A>C (p.Thr105Pro)	KIR2DL3 (T105P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115080	NM_015868.3(KIR2DL3):c.318C>G (p.His106Gln)	KIR2DL3 (H106Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115081	NM_015868.3(KIR2DL3):c.330G>C (p.Gln110His)	KIR2DL3 (Q110H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485026	NM_015868.3(KIR2DL3):c.341C>T (p.Pro114Leu)	KIR2DL3 (P114L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115082	NM_015868.3(KIR2DL3):c.360C>G (p.Ile120Met)	KIR2DL3 (I120M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2496083	NM_015868.3(KIR2DL3):c.406G>A (p.Gly136Ser)	KIR2DL3 (G136S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254460	NM_015868.3(KIR2DL3):c.431G>A (p.Ser144Asn)	KIR2DL3 (S144N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2463685	NM_015868.3(KIR2DL3):c.463T>C (p.Tyr155His)	KIR2DL3 (Y155H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288701	NM_015868.3(KIR2DL3):c.489G>T (p.Glu163Asp)	KIR2DL3 (E163D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2272771	NM_015868.3(KIR2DL3):c.552C>G (p.Asp184Glu)	KIR2DL3 (D184E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115083	NM_015868.3(KIR2DL3):c.563G>A (p.Gly188Asp)	KIR2DL3 (G188D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2479127	NM_015868.3(KIR2DL3):c.581G>A (p.Gly194Glu)	KIR2DL3 (G194E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2458753	NM_015868.3(KIR2DL3):c.598G>A (p.Gly200Ser)	KIR2DL3 (G200S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352886	NM_015868.3(KIR2DL3):c.640G>C (p.Asp214His)	KIR2DL3 (D214H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2465947	NM_015868.3(KIR2DL3):c.727C>A (p.His243Asn)	KIR2DL3 (H243N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115084	NM_015868.3(KIR2DL3):c.734A>C (p.His245Pro)	KIR2DL3 (H245P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2289798	NM_015868.3(KIR2DL3):c.743T>C (p.Ile248Thr)	KIR2DL3 (I248T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650460	NM_015868.3(KIR2DL3):c.759C>T (p.Val253=)	KIR2DL3	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2283242	NM_015868.3(KIR2DL3):c.794T>C (p.Leu265Pro)	KIR2DL3 (L265P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650461	NM_015868.3(KIR2DL3):c.799C>T (p.Arg267Cys)	KIR2DL3 (R267C)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 2346583	NM_015868.3(KIR2DL3):c.826G>T (p.Val276Phe)	KIR2DL3 (V276F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356575	NM_015868.3(KIR2DL3):c.853A>G (p.Asn285Asp)	KIR2DL3 (N285D)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2472034	NM_015868.3(KIR2DL3):c.862G>A (p.Val288Met)	KIR2DL3 (V288M)	Single nucleotide variant (missense variant)	not provided +1 more	GConflicting classifications of pathogenicity
Select item 2217414	NM_015868.3(KIR2DL3):c.947T>A (p.Ile316Asn)	KIR2DL3 (I316N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2591682	NM_015868.3(KIR2DL3):c.983C>G (p.Thr328Arg)	KIR2DL3 (T328R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288702	NM_015868.3(KIR2DL3):c.991A>G (p.Ile331Val)	KIR2DL3 (I331V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2342859	NM_015868.3(KIR2DL3):c.1018G>A (p.Glu340Lys)	KIR2DL3 (E340K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 1443808	NC_000019.9:g.(?_54297303)_(55678016_?)dup	CACNG6, CACNG7 +51 more	Duplication	not provided	GUncertain significance
Select item 1341017	GRCh37/hg19 19q13.42-13.43(chr19:55247893-56503347)x1	BRSK1, CCDC106 +54 more	Copy number loss	not provided	GLikely pathogenic
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 980768	GRCh37/hg19 19q13.33-13.43(chr19:48463931-57095254)x3	PPP1R15A, PPP2R1A +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 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)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +1364 more	Copy number gain	See cases	GPathogenic
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 221404	GRCh37/hg19 19q13.42(chr19:54710237-55648526)x1	LILRB3, CDC42EP5 +32 more	Copy number loss	Breast ductal adenocarcinoma	GUncertain significance
Select item 221370	chr19:55143156-55294969 complex variant	KIR2DL1, KIR2DL3 +3 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
Select item 221353	chr19:54754752-55624113 complex variant	FCAR, EPS8L1 +28 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 67