U2AF2[gene] - ClinVar

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Items: 66

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 154108	GRCh38/hg38 19q13.42-13.43(chr19:55037146-56982033)x3	BRSK1, C19orf85 +196 more	Copy number gain	See cases	GUncertain significance
Select item 149081	GRCh38/hg38 19q13.42-13.43(chr19:55048514-56972458)x3	BRSK1, C19orf85 +194 more	Copy number gain	See cases	GLikely pathogenic
Select item 153813	GRCh38/hg38 19q13.42(chr19:55066790-55789870)x3	NAT14, NLRP11 +124 more	Copy number gain	See cases	GUncertain significance
Select item 145961	GRCh38/hg38 19q13.42-13.43(chr19:55550939-57031576)x1	CCDC106, EDDM13 +106 more	Copy number loss	See cases	GLikely pathogenic
Select item 560140	Single allele	CCDC106, EPN1 +37 more	Deletion	not provided	GUncertain significance
Select item 3342825	NM_007279.3(U2AF2):c.14A>C (p.Asp5Ala)	U2AF2 (D5A)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3330459	NM_007279.3(U2AF2):c.22G>A (p.Glu8Lys)	U2AF2 (E8K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528320	NM_007279.3(U2AF2):c.110G>A (p.Arg37His)	U2AF2 (R37H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229258	NM_007279.3(U2AF2):c.119G>A (p.Arg40Gln)	U2AF2 (R40Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3252581	NM_007279.3(U2AF2):c.125G>A (p.Arg42Gln)	U2AF2 (R42Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3185322	NM_007279.3(U2AF2):c.133G>A (p.Asp45Asn)	U2AF2 (D45N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361742	NM_007279.3(U2AF2):c.182G>A (p.Arg61His)	U2AF2 (R61H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1050250	NM_007279.3(U2AF2):c.231-2_235del	U2AF2	Deletion (splice acceptor variant)	not provided	GUncertain significance
Select item 2620484	NM_007279.3(U2AF2):c.232C>T (p.Arg78Cys)	U2AF2 (R78C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245003	NM_007279.3(U2AF2):c.242G>A (p.Arg81His)	U2AF2 (R81H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3373666	NM_007279.3(U2AF2):c.384C>A (p.Asp128Glu)	U2AF2 (D128E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1470385	NM_007279.3(U2AF2):c.445C>T (p.Arg149Trp)	U2AF2 (R149W)	Single nucleotide variant (missense variant)	not provided +2 more	GPathogenic/Likely pathogenic
Select item 3342952	NM_007279.3(U2AF2):c.446G>A (p.Arg149Gln)	U2AF2 (R149Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1495164	NM_007279.3(U2AF2):c.448C>T (p.Arg150Cys)	U2AF2 (R150C)	Single nucleotide variant (missense variant)	Developmental delay, dysmorphic facies, and brain anomalies +1 more	GPathogenic/Likely pathogenic
Select item 2523117	NM_007279.3(U2AF2):c.449G>A (p.Arg150His)	U2AF2 (R150H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GPathogenic
Select item 789674	NM_007279.3(U2AF2):c.456C>T (p.Tyr152=)	U2AF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 1510756	NM_007279.3(U2AF2):c.457G>A (p.Val153Met)	U2AF2 (V153M)	Single nucleotide variant (missense variant)	not provided	GPathogenic/Likely pathogenic
Select item 789675	NM_007279.3(U2AF2):c.459G>T (p.Val153=)	U2AF2	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2412811	NM_007279.3(U2AF2):c.470C>T (p.Pro157Leu)	U2AF2 (P157L)	Single nucleotide variant (missense variant)	Leukodystrophy	GLikely pathogenic
Select item 3185323	NM_007279.3(U2AF2):c.478A>C (p.Ile160Leu)	U2AF2 (I160L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3330458	NM_007279.3(U2AF2):c.524T>C (p.Leu175Pro)	U2AF2 (L175P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3342390	NM_007279.3(U2AF2):c.527G>T (p.Gly176Val)	U2AF2 (G176V)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3376364	NM_007279.3(U2AF2):c.530G>A (p.Gly177Glu)	U2AF2 (G177E)	Single nucleotide variant (missense variant)	Developmental delay, dysmorphic facies, and brain anomalies	GUncertain significance
Select item 3342907	NM_007279.3(U2AF2):c.560T>C (p.Leu187Ser)	U2AF2 (L187S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2582779	NM_007279.3(U2AF2):c.603G>T (p.Glu201Asp)	U2AF2 (E201D)	Single nucleotide variant (missense variant)	Developmental delay, dysmorphic facies, and brain anomalies	GPathogenic
Select item 3375493	NM_007279.3(U2AF2):c.608delinsTATTCAGT (p.Arg203fs)	U2AF2 (R203fs)	Indel (frameshift variant)	not provided	GUncertain significance
Select item 3185324	NM_007279.3(U2AF2):c.730G>A (p.Val244Ile)	U2AF2 (V244I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1685470	NM_007279.3(U2AF2):c.746T>A (p.Val249Asp)	U2AF2 (V249D)	Single nucleotide variant (missense variant)	Neurodevelopmental disorder	GLikely pathogenic
Select item 982428	NM_007279.3(U2AF2):c.791G>A (p.Gly264Glu)	U2AF2 (G264E)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2228602	NM_007279.3(U2AF2):c.1040C>A (p.Pro347His)	U2AF2 (P347H)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2367937	NM_007279.3(U2AF2):c.1055A>G (p.Asn352Ser)	U2AF2 (N348S +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3342637	NM_007279.3(U2AF2):c.1177G>A (p.Glu393Lys)	U2AF2 (E389K +1 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2650536	NM_007279.3(U2AF2):c.1227C>T (p.Tyr409=)	U2AF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3330460	NM_007279.3(U2AF2):c.1231C>T (p.Leu411Phe)	U2AF2 (L407F +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2409616	NM_007279.3(U2AF2):c.1238A>G (p.Lys413Arg)	U2AF2 (K409R +1 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2650537	NM_007279.3(U2AF2):c.1254C>T (p.Pro418=)	U2AF2	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 1240404	NM_007279.3(U2AF2):c.1256G>A (p.Arg419Gln)	U2AF2 (R415Q +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3368513	NM_007279.3(U2AF2):c.1400_1411dup (p.His470_Arg471insHisSerTyrHis)	U2AF2	Duplication (inframe_insertion)	not provided	GUncertain significance
Select item 3062375	GRCh37/hg19 19q13.42-13.43(chr19:56080158-57672397)x1	CCDC106, DUXA +36 more	Copy number loss	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 1341981	GRCh37/hg19 19q13.42-13.43(chr19:55434660-56463734)x1	CCDC106, COX6B2 +45 more	Copy number loss	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 564606	GRCh37/hg19 19q13.42-13.43(chr19:54196216-58759679)x3	ZNF548, ZNF549 +157 more	Copy number gain	not provided	GPathogenic
Select item 564600	GRCh37/hg19 19q13.42-13.43(chr19:55779884-56896574)x1	KMT5C, NLRP8 +39 more	Copy number loss	not provided	GUncertain significance
Select item 443658	GRCh37/hg19 19q13.42-13.43(chr19:55844155-57408007)x3	CCDC106, COX6B2 +47 more	Copy number gain	See cases	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 443202	GRCh37/hg19 19q13.42-13.43(chr19:55549385-57489784)x3	BRSK1, CCDC106 +61 more	Copy number gain	See cases	GUncertain significance
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 221354	chr19:56133299..57648277 complex variant	NLRP4, CCDC106 +31 more	Complex	Breast ductal adenocarcinoma	GUncertain significance

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Items: 66