Related gene-specific medical variations for Gene (Select 134353) - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3540954	NM_173491.4(LSM11):c.287C>G (p.Thr96Ser)	LOC129995145, LSM11 (T96S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3540952	NM_173491.4(LSM11):c.259C>G (p.Pro87Ala)	LOC129995145, LSM11 (P87A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3540950	NM_173491.4(LSM11):c.286A>G (p.Thr96Ala)	LOC129995145, LSM11 (T96A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3379617	NM_173491.4(LSM11):c.210CGGGCG[2] (p.71GR[2])	LOC129995145, LSM11	Microsatellite	not provided	GUncertain significance
Select item 3341833	NM_173491.4(LSM11):c.282C>T (p.Gly94=)	LOC129995145, LSM11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3292161	NM_173491.4(LSM11):c.256G>A (p.Val86Ile)	LOC129995145, LSM11 (V86I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121303	NM_173491.4(LSM11):c.289C>G (p.Arg97Gly)	LOC129995145, LSM11 (R97G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121302	NM_173491.4(LSM11):c.23C>T (p.Ala8Val)	LOC129995145, LSM11 (A8V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121301	NM_173491.4(LSM11):c.145A>G (p.Asn49Asp)	LOC129995145, LSM11 (N49D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037709	NM_173491.4(LSM11):c.208G>A (p.Gly70Ser)	LOC129995145, LSM11 (G70S)	Single nucleotide variant (missense variant)	LSM11-related disorder	GLikely benign
Select item 2688257	NM_173491.4(LSM11):c.228G>A (p.Arg76=)	LOC129995145, LSM11	Single nucleotide variant (synonymous variant)	not specified	GBenign
Select item 2656004	NM_173491.4(LSM11):c.108C>T (p.Ala36=)	LOC129995145, LSM11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2656003	NM_173491.4(LSM11):c.18G>C (p.Arg6=)	LOC129995145, LSM11	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2589334	NM_173491.4(LSM11):c.29C>G (p.Ser10Trp)	LOC129995145, LSM11 (S10W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2549983	NM_173491.4(LSM11):c.170C>A (p.Ala57Glu)	LOC129995145, LSM11 (A57E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2381819	NM_173491.4(LSM11):c.17G>C (p.Arg6Pro)	LOC129995145, LSM11 (R6P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356325	NM_173491.4(LSM11):c.242C>G (p.Ala81Gly)	LOC129995145, LSM11 (A81G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2331266	NM_173491.4(LSM11):c.206G>A (p.Gly69Asp)	LOC129995145, LSM11 (G69D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2327643	NM_173491.4(LSM11):c.50C>G (p.Ala17Gly)	LOC129995145, LSM11 (A17G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309477	NM_173491.4(LSM11):c.254G>T (p.Gly85Val)	LOC129995145, LSM11 (G85V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2283574	NM_173491.4(LSM11):c.17G>A (p.Arg6Gln)	LOC129995145, LSM11 (R6Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278317	NM_173491.4(LSM11):c.10C>T (p.Arg4Trp)	LOC129995145, LSM11 (R4W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2266973	NM_173491.4(LSM11):c.268C>A (p.Pro90Thr)	LOC129995145, LSM11 (P90T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2223529	NM_173491.4(LSM11):c.305C>G (p.Ala102Gly)	LOC129995145, LSM11 (A102G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance

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Links from Gene

Items: 24