3811[geneid] - ClinVar

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Items: 71

	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 2391889	NM_013289.4(KIR3DL1):c.66C>A (p.His22Gln)	KIR3DL1 (H22Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115100	NM_013289.4(KIR3DL1):c.86C>G (p.Pro29Arg)	KIR3DL1 (P29R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2205880	NM_013289.4(KIR3DL1):c.100T>C (p.Trp34Arg)	KIR3DL1 (W34R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115091	NM_013289.4(KIR3DL1):c.109G>A (p.Ala37Thr)	KIR3DL1 (A37T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2226341	NM_013289.4(KIR3DL1):c.122G>A (p.Arg41Gln)	KIR3DL1 (R41Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2308692	NM_013289.4(KIR3DL1):c.133G>A (p.Val45Met)	KIR3DL1 (V45M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115093	NM_013289.4(KIR3DL1):c.158A>G (p.His53Arg)	KIR3DL1 (H53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2211628	NM_013289.4(KIR3DL1):c.245T>C (p.Met82Thr)	KIR3DL1 (M82T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2264963	NM_013289.4(KIR3DL1):c.296A>G (p.His99Arg)	KIR3DL1 (H99R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2569817	NM_013289.4(KIR3DL1):c.308C>T (p.Pro103Leu)	KIR3DL1 (P103L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2498239	NM_013289.4(KIR3DL1):c.337G>A (p.Val113Met)	KIR3DL1 (V113M)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 2350461	NM_013289.4(KIR3DL1):c.410G>A (p.Gly137Glu)	KIR3DL1 (G137E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115094	NM_013289.4(KIR3DL1):c.445A>G (p.Met149Val)	KIR3DL1 (M149V)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2498240	NM_013289.4(KIR3DL1):c.475G>T (p.Gly159Trp)	KIR3DL1 (G159W)	Single nucleotide variant (missense variant)	Keratoconus	GUncertain significance
Select item 2650483	NM_013289.4(KIR3DL1):c.487del (p.Asp163fs)	KIR3DL1 (D163fs)	Deletion (frameshift variant)	not provided	GLikely benign
Select item 2650484	NM_013289.4(KIR3DL1):c.487G>A (p.Asp163Asn)	KIR3DL1 (D163N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 3115095	NM_013289.4(KIR3DL1):c.502G>T (p.Val168Phe)	KIR3DL1 (V168F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2363906	NM_013289.4(KIR3DL1):c.536A>G (p.Asn179Ser)	KIR3DL1 (N179S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2494097	NM_013289.4(KIR3DL1):c.547G>A (p.Gly183Ser)	KIR3DL1 (G183S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2615372	NM_013289.4(KIR3DL1):c.554T>A (p.Met185Lys)	KIR3DL1 (M185K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115096	NM_013289.4(KIR3DL1):c.572G>A (p.Gly191Glu)	KIR3DL1 (G191E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2314301	NM_013289.4(KIR3DL1):c.605C>T (p.Thr202Ile)	KIR3DL1 (T202I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2255539	NM_013289.4(KIR3DL1):c.613C>G (p.Gln205Glu)	KIR3DL1 (Q205E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115097	NM_013289.4(KIR3DL1):c.615G>C (p.Gln205His)	KIR3DL1 (Q205H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2263318	NM_013289.4(KIR3DL1):c.664G>A (p.Glu222Lys)	KIR3DL1 (E222K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115098	NM_013289.4(KIR3DL1):c.698A>C (p.Lys233Thr)	KIR3DL1 (K233T)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2370293	NM_013289.4(KIR3DL1):c.704A>T (p.Gln235Leu)	KIR3DL1 (Q235L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2395630	NM_013289.4(KIR3DL1):c.716G>A (p.Ser239Asn)	KIR3DL1 (S239N)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2608740	NM_013289.4(KIR3DL1):c.739C>T (p.Arg247Trp)	KIR3DL1 (R247W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288708	NM_013289.4(KIR3DL1):c.756G>C (p.Met252Ile)	KIR3DL1 (M252I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2515739	NM_013289.4(KIR3DL1):c.808C>A (p.Arg270Ser)	KIR3DL1 (R270S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 161666	NM_013289.4(KIR3DL1):c.809G>A (p.Arg270His)	KIR3DL1 (R270H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2374539	NM_013289.4(KIR3DL1):c.814G>A (p.Val272Ile)	KIR3DL1 (V272I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115099	NM_013289.4(KIR3DL1):c.841C>G (p.Pro281Ala)	KIR3DL1 (P281A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2204407	NM_013289.4(KIR3DL1):c.841C>T (p.Pro281Ser)	KIR3DL1 (P281S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553199	NM_013289.4(KIR3DL1):c.893G>A (p.Arg298His)	KIR3DL1 (R298H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2224918	NM_013289.4(KIR3DL1):c.907G>A (p.Glu303Lys)	KIR3DL1 (E303K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2346104	NM_013289.4(KIR3DL1):c.934C>T (p.Leu312Phe)	KIR3DL1 (L312F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525974	NM_013289.4(KIR3DL1):c.955C>G (p.Pro319Ala)	KIR3DL1 (P319A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2317835	NM_013289.4(KIR3DL1):c.985C>A (p.Pro329Thr)	KIR3DL1 (P329T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2285412	NM_013289.4(KIR3DL1):c.992C>T (p.Ser331Phe)	KIR3DL1 (S331F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3115092	NM_013289.4(KIR3DL1):c.1130C>A (p.Pro377His)	KIR3DL1 (P377H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2672790	NM_013289.4(KIR3DL1):c.1134A>C (p.Ala378=)	KIR3DL1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2614683	NM_013289.4(KIR3DL1):c.1147G>A (p.Ala383Thr)	KIR3DL1 (A383T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3288709	NM_013289.4(KIR3DL1):c.1156G>A (p.Glu386Lys)	KIR3DL1 (E386K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270461	NM_013289.4(KIR3DL1):c.1195G>C (p.Ala399Pro)	KIR3DL1 (A399P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2650485	NM_013289.4(KIR3DL1):c.1204G>A (p.Asp402Asn)	KIR3DL1 (D402N)	Single nucleotide variant (missense variant)	not provided	GLikely benign
Select item 97715	NM_001127255.2(NLRP7):c.1137G>C (p.Lys379Asn)	NLRP7, KIR3DL1 (K379N)	Single nucleotide variant (missense variant)	not provided +2 more	GConflicting classifications of pathogenicity
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 221353	chr19:54754752-55624113 complex variant	FCAR, EPS8L1 +28 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 71