Related gene-specific medical variations for Gene (Select 3930) - ClinVar

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Links from Gene

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2433417	NM_002296.4(LBR):c.916T>C (p.Ser306Pro)	LBR (S306P)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1676661	NM_002296.4(LBR):c.235C>T (p.Arg79Ter)	LBR (R79*)	Single nucleotide variant	Pelger-Huët anomaly	GLikely pathogenic
Select item 1330815	NM_002296.4(LBR):c.262G>A (p.Gly88Ser)	LBR (G88S)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1330735	NM_002296.4(LBR):c.113C>T (p.Thr38Ile)	LBR (T38I)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 994912	NM_002296.4(LBR):c.837+5G>A	LBR	Single nucleotide variant (intron variant)	not provided	GUncertain significance
Select item 930347	NM_002296.4(LBR):c.166-12C>T	LBR	Single nucleotide variant (intron variant)	Pelger-Huët anomaly	GUncertain significance
Select item 618194	NM_002296.4(LBR):c.924C>T (p.Val308=)	LBR	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 618193	NM_002296.4(LBR):c.1130G>A (p.Arg377Gln)	LBR (R377Q)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424943	NM_002296.4(LBR):c.881A>G (p.Tyr294Cys)	LBR (Y294C)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 424942	NM_002296.4(LBR):c.1314+3A>C	LBR	Single nucleotide variant (intron variant)	not provided	GUncertain significance