Related gene-specific medical variations for Gene (Select 494551) - ClinVar

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Links from Gene

Items: 48

	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 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

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Links from Gene

Items: 48