LSM11[gene] and "single gene"[properties] - ClinVar - NCBI

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Items: 16

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 2231536	NM_173491.4(LSM11):c.317A>C (p.Asp106Ala)	LSM11 (D106A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2229250	NM_173491.4(LSM11):c.323A>C (p.Glu108Ala)	LSM11 (E108A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2481128	NM_173491.4(LSM11):c.325C>T (p.Arg109Cys)	LSM11 (R109C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2253930	NM_173491.4(LSM11):c.535C>T (p.Leu179Phe)	LSM11 (L179F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2599466	NM_173491.4(LSM11):c.544G>A (p.Val182Ile)	LSM11 (V182I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1202617	NM_173491.4(LSM11):c.631G>A (p.Gly211Ser)	LSM11 (G211S)	Single nucleotide variant (missense variant)	Aicardi-Goutieres syndrome 8	GPathogenic
Select item 2318062	NM_173491.4(LSM11):c.647G>A (p.Arg216Gln)	LSM11 (R216Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656005	NM_173491.4(LSM11):c.675A>G (p.Leu225=)	LSM11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2477983	NM_173491.4(LSM11):c.721T>C (p.Ser241Pro)	LSM11 (S241P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2526668	NM_173491.4(LSM11):c.742T>C (p.Ser248Pro)	LSM11 (S248P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3034792	NM_173491.4(LSM11):c.843C>G (p.Val281=)	LSM11	Single nucleotide variant (synonymous variant)	LSM11-related condition	GLikely benign
Select item 2614562	NM_173491.4(LSM11):c.881G>C (p.Arg294Thr)	LSM11 (R294T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2605696	NM_173491.4(LSM11):c.974G>A (p.Arg325His)	LSM11 (R325H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1675997	NM_173491.4(LSM11):c.1014A>C (p.Val338=)	LSM11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2364301	NM_173491.4(LSM11):c.1025A>T (p.His342Leu)	LSM11 (H342L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2656006	NM_173491.4(LSM11):c.1062G>A (p.Leu354=)	LSM11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign