ClinVar for Gene (Select 494551) - ClinVar - NCBI

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	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3190459	NM_001105558.1(WEE2):c.899C>T (p.Ala300Val)	WEE2, WEE2-AS1 (A300V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190458	NM_001105558.1(WEE2):c.695G>A (p.Arg232Lys)	WEE2, WEE2-AS1 (R232K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190457	NM_001105558.1(WEE2):c.581C>A (p.Ala194Asp)	WEE2, WEE2-AS1 (A194D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190456	NM_001105558.1(WEE2):c.277G>C (p.Glu93Gln)	WEE2, WEE2-AS1 (E93Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190455	NM_001105558.1(WEE2):c.1626A>C (p.Arg542Ser)	WEE2, WEE2-AS1 (R542S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190454	NM_001105558.1(WEE2):c.160A>T (p.Thr54Ser)	WEE2, WEE2-AS1 (T54S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190453	NM_001105558.1(WEE2):c.1555C>G (p.Gln519Glu)	WEE2, WEE2-AS1 (Q519E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190452	NM_001105558.1(WEE2):c.1526C>G (p.Thr509Arg)	WEE2, WEE2-AS1 (T509R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3190450	NM_001105558.1(WEE2):c.1250T>C (p.Ile417Thr)	WEE2, WEE2-AS1 (I417T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3065531	NM_001105558.1(WEE2):c.487T>C (p.Tyr163His)	WEE2, WEE2-AS1 (Y163H)	Single nucleotide variant (non-coding transcript variant +1 more)	Oocyte maturation defect 5	GUncertain significance
Select item 3062984	GRCh37/hg19 7q33-36.3(chr7:137456457-159119707)x3	ABCB8, ABCF2 +165 more	Copy number gain	not specified	GPathogenic
Select item 3059633	NM_001105558.1(WEE2):c.792A>G (p.Ala264=)	WEE2, WEE2-AS1	Single nucleotide variant (synonymous variant)	WEE2-related condition	GBenign
Select item 3051238	NM_001105558.1(WEE2):c.1536-9G>A	WEE2, WEE2-AS1	Single nucleotide variant (intron variant)	WEE2-related condition	GLikely benign
Select item 3049731	NM_001105558.1(WEE2):c.186C>T (p.Asn62=)	WEE2, WEE2-AS1	Single nucleotide variant (synonymous variant)	WEE2-related condition	GLikely benign
Select item 3043384	NM_001105558.1(WEE2):c.402G>A (p.Lys134=)	WEE2, WEE2-AS1	Single nucleotide variant (non-coding transcript variant +1 more)	WEE2-related condition	GLikely benign
Select item 3041408	NM_001105558.1(WEE2):c.300C>T (p.Ser100=)	WEE2, WEE2-AS1	Single nucleotide variant (synonymous variant)	WEE2-related condition	GLikely benign
Select item 3024642	GRCh37/hg19 7q34(chr7:140426294-141883173)x1	AGK, BRAF +13 more	Copy number loss	not provided	GPathogenic
Select item 2685271	GRCh37/hg19 7q33-36.3(chr7:135639005-159119707)x1	ARHGEF35, KEL +169 more	Copy number loss	not provided	GPathogenic
Select item 2620312	NM_001105558.1(WEE2):c.1136G>A (p.Gly379Asp)	WEE2, WEE2-AS1 (G379D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2583057	GRCh37/hg19 7q34-36.1(chr7:140154317-152551638)x1	KRBA1, LLCFC1 +125 more	Copy number loss	not provided	GPathogenic
Select item 2579171	GRCh38/hg38 7q34-36.3(chr7:138620939-159233475)x3	DYNC2I1, EN2 +847 more	Copy number gain	Neurodevelopmental disorder	GLikely pathogenic
Select item 2579170	GRCh38/hg38 7q33-36.3(chr7:137463392-159345973)x3	AGAP3, AGK +888 more	Copy number gain	Neurodevelopmental disorder	GPathogenic
Select item 2564562	NM_001105558.1(WEE2):c.1633A>G (p.Lys545Glu)	WEE2, WEE2-AS1 (K545E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2558937	NM_001105558.1(WEE2):c.1106T>C (p.Phe369Ser)	WEE2, WEE2-AS1 (F369S)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2554424	NM_001105558.1(WEE2):c.827A>G (p.Tyr276Cys)	WEE2, WEE2-AS1 (Y276C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553272	NM_001105558.1(WEE2):c.52T>C (p.Tyr18His)	WEE2, WEE2-AS1 (Y18H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2525699	NM_001105558.1(WEE2):c.764C>T (p.Ser255Leu)	WEE2, WEE2-AS1 (S255L)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2492347	NM_001105558.1(WEE2):c.1237C>G (p.Pro413Ala)	WEE2, WEE2-AS1 (P413A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476434	NM_001105558.1(WEE2):c.1574G>T (p.Gly525Val)	WEE2, WEE2-AS1 (G525V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2474930	NM_001105558.1(WEE2):c.1449T>A (p.Asn483Lys)	WEE2, WEE2-AS1 (N483K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2464013	NM_001105558.1(WEE2):c.1687C>T (p.Arg563Cys)	WEE2, WEE2-AS1 (R563C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2459505	NM_001105558.1(WEE2):c.724C>T (p.Arg242Cys)	WEE2, WEE2-AS1 (R242C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2455540	NM_001105558.1(WEE2):c.928C>A (p.His310Asn)	WEE2, WEE2-AS1 (H310N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2425346	NC_000007.13:g.(?_130781014)_(150301047_?)del	ACTR3C, ADCK2 +141 more	Deletion	not provided	GPathogenic
Select item 2425073	NC_000007.13:g.(?_138391369)_(141759786_?)del	ADCK2, AGK +34 more	Deletion	not provided	GPathogenic
Select item 2408446	NM_001105558.1(WEE2):c.1628G>C (p.Ser543Thr)	WEE2, WEE2-AS1 (S543T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2383113	NM_001105558.1(WEE2):c.163C>T (p.Pro55Ser)	WEE2, WEE2-AS1 (P55S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2376159	NM_001105558.1(WEE2):c.1360G>C (p.Glu454Gln)	WEE2, WEE2-AS1 (E454Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2361480	NM_001105558.1(WEE2):c.544G>C (p.Glu182Gln)	WEE2, WEE2-AS1 (E182Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2349641	NM_001105558.1(WEE2):c.725G>A (p.Arg242His)	WEE2, WEE2-AS1 (R242H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2333061	NM_001105558.1(WEE2):c.62A>T (p.Glu21Val)	WEE2, WEE2-AS1 (E21V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2316509	NM_001105558.1(WEE2):c.1414G>A (p.Glu472Lys)	WEE2, WEE2-AS1 (E472K)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2278999	NM_001105558.1(WEE2):c.1150G>A (p.Ala384Thr)	WEE2, WEE2-AS1 (A384T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2270947	NM_001105558.1(WEE2):c.599G>A (p.Arg200Gln)	WEE2, WEE2-AS1 (R200Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266539	NM_001105558.1(WEE2):c.1049A>G (p.Lys350Arg)	WEE2, WEE2-AS1 (K350R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2259034	NM_001105558.1(WEE2):c.1567C>A (p.Pro523Thr)	WEE2, WEE2-AS1 (P523T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2257735	NM_001105558.1(WEE2):c.209C>T (p.Ser70Leu)	WEE2, WEE2-AS1 (S70L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2254000	NM_001105558.1(WEE2):c.1351G>A (p.Val451Ile)	WEE2, WEE2-AS1 (V451I)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2242457	NM_001105558.1(WEE2):c.719T>C (p.Ile240Thr)	WEE2, WEE2-AS1 (I240T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2234263	NM_001105558.1(WEE2):c.287C>T (p.Ala96Val)	WEE2, WEE2-AS1 (A96V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2212240	NM_001105558.1(WEE2):c.69G>C (p.Glu23Asp)	WEE2, WEE2-AS1 (E23D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2163249	NM_001105558.1(WEE2):c.862C>T (p.Gln288Ter)	WEE2, WEE2-AS1 (Q288*)	Single nucleotide variant (nonsense)	not provided	GPathogenic
Select item 1807754	GRCh37/hg19 7q32.3-36.1(chr7:131779213-149042734)x1	RAB19, RNY1 +123 more	Copy number loss	not provided	GPathogenic
Select item 1708459	GRCh37/hg19 7p22.3-q36.3(chr7:56604613-96692931)x1	AASS, ABCA13 +896 more	Copy number loss	See cases	GUncertain significance
Select item 1703560	Single allele	CACNA2D1, CADPS2 +896 more	Complex	Ring chromosome 7	GPathogenic
Select item 1450681	NC_000007.13:g.(?_137761265)_(141759786_?)dup	ZC3HAV1, ZC3HAV1L +37 more	Duplication	not provided	GUncertain significance
Select item 1341257	GRCh37/hg19 7q33-36.3(chr7:133851002-159119707)x3	ABCB8, ABCF2 +186 more	Copy number gain	not provided	GPathogenic
Select item 1335693	NM_001105558.1(WEE2):c.1459C>T (p.Arg487Trp)	WEE2, WEE2-AS1 (R487W)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided	GUncertain significance
Select item 1330183	GRCh37/hg19 7q33-35(chr7:133848099-145814115)x1	ADCK2, AGBL3 +105 more	Copy number loss	Small face +7 more	GPathogenic
Select item 1175771	NM_001105558.1(WEE2):c.1069G>A (p.Gly357Arg)	WEE2, WEE2-AS1 (G357R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified +1 more	GUncertain significance
Select item 1013566	NM_001105558.1(WEE2):c.1350C>T (p.Asp450=)	WEE2, WEE2-AS1	Single nucleotide variant (synonymous variant)	WEE2-related condition +1 more	GLikely benign
Select item 977297	NM_001105558.1(WEE2):c.598C>T (p.Arg200Ter)	WEE2, WEE2-AS1 (R200*)	Single nucleotide variant (nonsense)	Oocyte maturation defect 5	GPathogenic
Select item 977296	NM_001105558.1(WEE2):c.1221G>A (p.Glu407=)	WEE2, WEE2-AS1	Single nucleotide variant (synonymous variant)	Oocyte maturation defect 5	GPathogenic
Select item 977295	NM_001105558.1(WEE2):c.1228C>T (p.Arg410Trp)	WEE2, WEE2-AS1 (R410W)	Single nucleotide variant (missense variant)	Oocyte maturation defect 5	GPathogenic
Select item 816507	GRCh37/hg19 7q32.3-36.3(chr7:131414604-159126310)x1	ABCB8, ABCF2 +190 more	Copy number loss	See cases	GPathogenic
Select item 815017	GRCh37/hg19 7q31.1-36.3(chr7:109251060-159119707)x3	CHRM2, KRBA1 +295 more	Copy number gain	not provided	GPathogenic
Select item 771416	NM_001105558.1(WEE2):c.1576T>G (p.Tyr526Asp)	WEE2, WEE2-AS1 (Y526D)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 771415	NM_001105558.1(WEE2):c.881-8T>C	WEE2, WEE2-AS1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 734043	NM_001105558.1(WEE2):c.210G>A (p.Ser70=)	WEE2, WEE2-AS1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 734002	NM_001105558.1(WEE2):c.513T>C (p.Gly171=)	WEE2, WEE2-AS1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 688878	GRCh37/hg19 7q32.3-36.3(chr7:130592554-159119707)x3	OR2A25, OR2A42 +192 more	Copy number gain	not provided	GPathogenic
Select item 687427	GRCh37/hg19 7p22.3-q36.3(chr7:10365-159119707)x3	PRSS1, PRSS37 +896 more	Copy number gain	not provided	GPathogenic
Select item 625550	GRCh37/hg19 7q32.1-36.3(chr7:128312450-159119220)	ABCB8, ABCF2 +229 more	Copy number gain	not provided	GPathogenic
Select item 563422	GRCh37/hg19 7q22.1-36.3(chr7:98693388-159119707)x3	AASS, ABCB8 +436 more	Copy number gain	not provided	GPathogenic
Select item 563421	GRCh37/hg19 7q34-36.3(chr7:140133025-158982771)x1	ABCB8, ABCF2 +143 more	Copy number loss	not provided	GPathogenic
Select item 545471	NM_001105558.1(WEE2):c.224_227del (p.Glu75fs)	WEE2, WEE2-AS1 (E75fs)	Microsatellite (frameshift variant)	Oocyte maturation defect 5	GPathogenic
Select item 545470	NM_001105558.1(WEE2):c.1477dup (p.Thr493fs)	WEE2, WEE2-AS1 (T493fs)	Duplication (frameshift variant)	Oocyte maturation defect 5	GPathogenic
Select item 545469	NM_001105558.1(WEE2):c.700G>C (p.Asp234His)	WEE2, WEE2-AS1 (D234H)	Single nucleotide variant (missense variant)	Oocyte maturation defect 5	GPathogenic
Select item 442966	GRCh37/hg19 7q33-36.3(chr7:137917376-159119707)x1	ABCB8, ABCF2 +162 more	Copy number loss	See cases	GPathogenic
Select item 442834	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)x3	AASS, ABCA13 +896 more	Copy number gain	See cases	GPathogenic
Select item 442833	GRCh37/hg19 7p22.3-q36.3(chr7:43361-159119707)	KLHL7, KLHL7-DT +896 more	Copy number gain	See cases	GPathogenic
Select item 442595	GRCh37/hg19 7q34-36.3(chr7:140636858-159119707)x1	ABCB8, ABCF2 +138 more	Copy number loss	See cases	GPathogenic
Select item 441751	GRCh37/hg19 7q33-36.3(chr7:136758593-159119707)x3	ABCB8, ABCF2 +166 more	Copy number gain	See cases	GPathogenic
Select item 155687	GRCh38/hg38 7q32.3-36.3(chr7:131171478-159327017)x3	TMEM139-AS1, TMEM140 +1052 more	Copy number gain	See cases	GPathogenic
Select item 155657	GRCh38/hg38 7q34-35(chr7:140061285-144622893)x3	ADCK2, AGK +230 more	Copy number gain	See cases	GUncertain significance
Select item 155640	GRCh38/hg38 7q32.3-36.3(chr7:132438072-159327017)x3	LOC123956245, LOC123956246 +1025 more	Copy number gain	See cases	GPathogenic
Select item 154735	GRCh38/hg38 7q32.3-36.3(chr7:131228764-159335866)x3	MIR5707, MIR595 +1046 more	Copy number gain	See cases	GPathogenic
Select item 152912	GRCh38/hg38 7q31.2-36.3(chr7:115459015-159325817)x3	LOC129999548, LOC129999549 +1547 more	Copy number gain	See cases	GPathogenic
Select item 150858	GRCh38/hg38 7q32.3-36.3(chr7:132444095-159335866)x3	LOC285889, LOC349160 +1025 more	Copy number gain	See cases	GPathogenic
Select item 149975	GRCh38/hg38 7q33-36.1(chr7:135017687-148807400)x1	LOC123956263, LOC126860190 +455 more	Copy number loss	See cases	GPathogenic
Select item 149905	GRCh38/hg38 7q31.32-36.3(chr7:121863759-159335865)x3	CADPS2, CALD1 +1380 more	Copy number gain	See cases	GPathogenic
Select item 149061	GRCh38/hg38 7q33-36.3(chr7:134666829-158591882)x1	LOC129999467, LOC129999468 +944 more	Copy number loss	See cases	GPathogenic
Select item 147547	GRCh38/hg38 7q21.3-36.3(chr7:97419852-158923762)x3	LOC129998995, LOC129998996 +2212 more	Copy number gain	See cases	GPathogenic
Select item 147398	GRCh38/hg38 7q33-36.2(chr7:137751200-154815582)x3	ABCB8, ABCF2 +692 more	Copy number gain	See cases	GPathogenic
Select item 146075	GRCh38/hg38 7p22.3-q36.3(chr7:54185-159282390)x1	CCDC146, CCDC201 +4735 more	Copy number loss	See cases	GPathogenic
Select item 144163	GRCh38/hg38 7q34-35(chr7:141126407-145652221)x3	AGK, AGK-DT +192 more	Copy number gain	See cases	GPathogenic
Select item 60300	GRCh38/hg38 7q34-36.3(chr7:140754198-159307523)x1	LOC129999649, LOC129999650 +737 more	Copy number loss	See cases	GPathogenic
Select item 60297	GRCh38/hg38 7q33-35(chr7:135414108-144140219)x1	ADCK2, AGK +373 more	Copy number loss	See cases	GPathogenic
Select item 59716	GRCh38/hg38 7q33-36.3(chr7:136309982-159307523)x3	LOC129999526, LOC129999527 +908 more	Copy number gain	See cases	GPathogenic
Select item 57401	GRCh38/hg38 7q32.3-36.3(chr7:132850196-159325876)x3	ABCB8, ABCF2 +1019 more	Copy number gain	See cases	GPathogenic

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