ClinVar for Gene (Select 3812) - ClinVar

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Links from Gene

Items: 75

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3288713	NM_006737.4(KIR3DL2):c.248G>T (p.Gly83Val)	KIR3DL2 (G83V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288712	NM_006737.4(KIR3DL2):c.176T>C (p.Met59Thr)	KIR3DL2 (M59T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288711	NM_006737.4(KIR3DL2):c.197G>T (p.Ser66Ile)	KIR3DL2 (S66I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288710	NM_006737.4(KIR3DL2):c.649A>G (p.Ile217Val)	KIR3DL2 (I217V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115104	NM_006737.4(KIR3DL2):c.908T>G (p.Val303Gly)	KIR3DL2 (V303G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115103	NM_006737.4(KIR3DL2):c.289G>A (p.Gly97Ser)	KIR3DL2 (G97S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115102	NM_006737.4(KIR3DL2):c.133G>A (p.Val45Met)	KIR3DL2 (V45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115101	NM_006737.4(KIR3DL2):c.1213G>A (p.Val405Ile)	KIR3DL2 (V388I +1 more)	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 2650495	NM_006737.4(KIR3DL2):c.1044C>T (p.Val348=)	KIR3DL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650494	NM_006737.4(KIR3DL2):c.1020T>C (p.His340=)	KIR3DL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2650493	NM_006737.4(KIR3DL2):c.675T>A (p.Ser225=)	KIR3DL2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2613223	NM_006737.4(KIR3DL2):c.1100A>C (p.Lys367Thr)	KIR3DL2 (K350T +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2601860	NM_006737.4(KIR3DL2):c.109A>G (p.Thr37Ala)	KIR3DL2 (T37A)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2543683	NM_006737.4(KIR3DL2):c.296G>A (p.Arg99His)	KIR3DL2 (R99H)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2538051	NM_006737.4(KIR3DL2):c.437C>T (p.Ser146Leu)	KIR3DL2 (S146L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2521795	NM_006737.4(KIR3DL2):c.1160A>G (p.Asp387Gly)	KIR3DL2 (D370G +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2516930	NM_006737.4(KIR3DL2):c.23T>C (p.Met8Thr)	KIR3DL2 (M8T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2514821	NM_006737.4(KIR3DL2):c.158G>A (p.Arg53His)	KIR3DL2 (R53H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2487745	NM_006737.4(KIR3DL2):c.139C>T (p.Leu47Phe)	KIR3DL2 (L47F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484901	NM_006737.4(KIR3DL2):c.100C>G (p.Arg34Gly)	KIR3DL2 (R34G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2484258	NM_006737.4(KIR3DL2):c.1246C>G (p.Gln416Glu)	KIR3DL2 (Q416E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2477419	NM_006737.4(KIR3DL2):c.431G>A (p.Cys144Tyr)	KIR3DL2 (C144Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2466862	NM_006737.4(KIR3DL2):c.502G>A (p.Val168Ile)	KIR3DL2 (V168I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2457511	NM_006737.4(KIR3DL2):c.202G>A (p.Val68Ile)	KIR3DL2 (V68I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456769	NM_006737.4(KIR3DL2):c.799C>T (p.Arg267Cys)	KIR3DL2 (R267C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407276	NM_006737.4(KIR3DL2):c.425T>A (p.Leu142Gln)	KIR3DL2 (L142Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2401246	NM_006737.4(KIR3DL2):c.1238G>A (p.Arg413His)	KIR3DL2 (R396H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2394619	NM_006737.4(KIR3DL2):c.1325C>T (p.Ser442Phe)	KIR3DL2 (S425F +1 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2379887	NM_006737.4(KIR3DL2):c.308T>C (p.Leu103Pro)	KIR3DL2 (L103P)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2365351	NM_006737.4(KIR3DL2):c.800G>A (p.Arg267His)	KIR3DL2 (R267H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2357726	NM_006737.4(KIR3DL2):c.1085G>A (p.Arg362His)	KIR3DL2 (R345H +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354343	NM_006737.4(KIR3DL2):c.1291C>T (p.Leu431Phe)	KIR3DL2 (L431F +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348142	NM_006737.4(KIR3DL2):c.1286C>A (p.Thr429Lys)	KIR3DL2 (T429K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348086	NM_006737.4(KIR3DL2):c.520G>A (p.Gly174Arg)	KIR3DL2 (G174R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2348005	NM_006737.4(KIR3DL2):c.698C>A (p.Thr233Lys)	KIR3DL2 (T233K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2347416	NM_006737.4(KIR3DL2):c.155G>A (p.Arg52His)	KIR3DL2 (R52H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331055	NM_006737.4(KIR3DL2):c.26C>T (p.Ala9Val)	KIR3DL2 (A9V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313326	NM_006737.4(KIR3DL2):c.196A>G (p.Ser66Gly)	KIR3DL2 (S66G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2313194	NM_006737.4(KIR3DL2):c.1322T>C (p.Val441Ala)	KIR3DL2 (V424A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2305233	NM_006737.4(KIR3DL2):c.718G>A (p.Val240Met)	KIR3DL2 (V240M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2302252	NM_006737.4(KIR3DL2):c.1339C>G (p.Pro447Ala)	KIR3DL2 (P430A +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288409	NM_006737.4(KIR3DL2):c.238T>C (p.Phe80Leu)	KIR3DL2 (F80L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253312	NM_006737.4(KIR3DL2):c.95C>T (p.Ser32Phe)	KIR3DL2 (S32F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2252716	NM_006737.4(KIR3DL2):c.756C>G (p.Ile252Met)	KIR3DL2 (I252M)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2252688	NM_006737.4(KIR3DL2):c.303C>G (p.His101Gln)	KIR3DL2 (H101Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2247234	NM_006737.4(KIR3DL2):c.739T>C (p.Trp247Arg)	KIR3DL2 (W247R)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2241834	NM_006737.4(KIR3DL2):c.460T>C (p.Phe154Leu)	KIR3DL2 (F154L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2241625	NM_006737.4(KIR3DL2):c.1132G>C (p.Ala378Pro)	KIR3DL2 (A378P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2241624	NM_006737.4(KIR3DL2):c.1119G>A (p.Met373Ile)	KIR3DL2 (M356I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2230743	NM_006737.4(KIR3DL2):c.773A>G (p.Glu258Gly)	KIR3DL2 (E258G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2218226	NM_006737.4(KIR3DL2):c.918C>G (p.Asn306Lys)	KIR3DL2 (N306K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204492	NM_006737.4(KIR3DL2):c.157C>T (p.Arg53Cys)	KIR3DL2 (R53C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
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 221353	chr19:54754752-55624113 complex variant	FCAR, EPS8L1 +28 more	Complex	Breast ductal adenocarcinoma	GUncertain significance
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 147949	GRCh37/hg19 19q13.42(chr19:55028722-55683018)x3	FCAR, KIR2DL1 +19 more	Copy number gain	See cases	GUncertain significance
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 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 59127	GRCh38/hg38 19q13.41-13.43(chr19:51141518-58539965)x3	A1BG, A1BG-AS1 +647 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 59117	GRCh38/hg38 19q13.33-13.43(chr19:47929575-58572206)x3	LOC130064903, LOC130064904 +1093 more	Copy number gain	See cases	GPathogenic
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 57219	GRCh38/hg38 19q13.33-13.43(chr19:50191219-58535818)x3	LOC130065034, LOC130065035 +761 more	Copy number gain	See cases	GPathogenic

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Links from Gene

Items: 75