ClinVar for Gene (Select 285962) - ClinVar

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

Links from Gene

Items: 68

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 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 2620312	NM_001105558.1(WEE2):c.1136G>A (p.Gly379Asp)	WEE2, WEE2-AS1 (G379D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
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)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2554424	NM_001105558.1(WEE2):c.827A>G (p.Tyr276Cys)	WEE2, WEE2-AS1 (Y276C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2553272	NM_001105558.1(WEE2):c.52T>C (p.Tyr18His)	WEE2, WEE2-AS1 (Y18H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525699	NM_001105558.1(WEE2):c.764C>T (p.Ser255Leu)	WEE2, WEE2-AS1 (S255L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2492347	NM_001105558.1(WEE2):c.1237C>G (p.Pro413Ala)	WEE2, WEE2-AS1 (P413A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476434	NM_001105558.1(WEE2):c.1574G>T (p.Gly525Val)	WEE2, WEE2-AS1 (G525V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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)	Inborn genetic diseases	GUncertain significance
Select item 2464013	NM_001105558.1(WEE2):c.1687C>T (p.Arg563Cys)	WEE2, WEE2-AS1 (R563C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2459505	NM_001105558.1(WEE2):c.724C>T (p.Arg242Cys)	WEE2, WEE2-AS1 (R242C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2455540	NM_001105558.1(WEE2):c.928C>A (p.His310Asn)	WEE2, WEE2-AS1 (H310N)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2408446	NM_001105558.1(WEE2):c.1628G>C (p.Ser543Thr)	WEE2, WEE2-AS1 (S543T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2383113	NM_001105558.1(WEE2):c.163C>T (p.Pro55Ser)	WEE2, WEE2-AS1 (P55S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376159	NM_001105558.1(WEE2):c.1360G>C (p.Glu454Gln)	WEE2-AS1, WEE2 (E454Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2361480	NM_001105558.1(WEE2):c.544G>C (p.Glu182Gln)	WEE2-AS1, WEE2 (E182Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2349641	NM_001105558.1(WEE2):c.725G>A (p.Arg242His)	WEE2, WEE2-AS1 (R242H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2333061	NM_001105558.1(WEE2):c.62A>T (p.Glu21Val)	WEE2, WEE2-AS1 (E21V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2316509	NM_001105558.1(WEE2):c.1414G>A (p.Glu472Lys)	WEE2-AS1, WEE2 (E472K)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2278999	NM_001105558.1(WEE2):c.1150G>A (p.Ala384Thr)	WEE2-AS1, WEE2 (A384T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2270947	NM_001105558.1(WEE2):c.599G>A (p.Arg200Gln)	WEE2, WEE2-AS1 (R200Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2266539	NM_001105558.1(WEE2):c.1049A>G (p.Lys350Arg)	WEE2-AS1, WEE2 (K350R)	Single nucleotide variant (non-coding transcript variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2259034	NM_001105558.1(WEE2):c.1567C>A (p.Pro523Thr)	WEE2-AS1, WEE2 (P523T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2257735	NM_001105558.1(WEE2):c.209C>T (p.Ser70Leu)	WEE2, WEE2-AS1 (S70L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2254000	NM_001105558.1(WEE2):c.1351G>A (p.Val451Ile)	WEE2-AS1, WEE2 (V451I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2242457	NM_001105558.1(WEE2):c.719T>C (p.Ile240Thr)	WEE2-AS1, WEE2 (I240T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2234263	NM_001105558.1(WEE2):c.287C>T (p.Ala96Val)	WEE2-AS1, WEE2 (A96V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2212240	NM_001105558.1(WEE2):c.69G>C (p.Glu23Asp)	WEE2, WEE2-AS1 (E23D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	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 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 1175771	NM_001105558.1(WEE2):c.1069G>A (p.Gly357Arg)	WEE2, WEE2-AS1 (G357R)	Single nucleotide variant (non-coding transcript variant +1 more)	not provided +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 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 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 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
Select item 57215	GRCh38/hg38 7q32.1-36.3(chr7:129310166-159282390)x3	ABCB8, ABCF2 +1176 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Links from Gene

Items: 68