3804[Gene ID] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

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	CACNG7, CACNG8 +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

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 67