LTO1[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 153941	GRCh38/hg38 11q13.2-13.4(chr11:68031693-71593495)x1	ACTE1P, ANO1 +184 more	Copy number loss	See cases	GLikely pathogenic
Select item 3121526	NM_153451.3(LTO1):c.403C>T (p.Leu135Phe)	LTO1 (L135F)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121525	NM_153451.3(LTO1):c.400G>A (p.Gly134Arg)	LTO1 (G134R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121524	NM_153451.3(LTO1):c.383T>C (p.Ile128Thr)	LTO1 (I128T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121523	NM_153451.3(LTO1):c.353C>T (p.Ser118Leu)	LTO1 (S118L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121522	NM_153451.3(LTO1):c.313G>A (p.Asp105Asn)	LTO1 (D105N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121521	NM_153451.3(LTO1):c.214A>G (p.Thr72Ala)	LTO1 (T72A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121520	NM_153451.3(LTO1):c.172G>A (p.Gly58Ser)	LTO1 (G58S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121519	NM_153451.3(LTO1):c.167A>G (p.Tyr56Cys)	LTO1 (Y56C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 781964	NM_153451.3(LTO1):c.157-4A>C	LTO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3121518	NM_153451.3(LTO1):c.128C>T (p.Thr43Met)	LTO1 (T43M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121517	NM_153451.3(LTO1):c.101G>T (p.Gly34Val)	LTO1 (G34V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517923	NM_153451.3(LTO1):c.71G>A (p.Arg24Gln)	LTO1 (R24Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3121529	NM_153451.3(LTO1):c.70C>T (p.Arg24Trp)	LTO1 (R24W)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121528	NM_153451.3(LTO1):c.62A>G (p.Glu21Gly)	LTO1 (E21G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3121527	NM_153451.3(LTO1):c.5C>G (p.Ala2Gly)	LTO1 (A2G)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	ACTN3, ACY3 +362 more	Copy number gain	not provided	GPathogenic
Select item 2424770	NC_000011.9:g.(?_64973914)_(70052579_?)dup	ACTN3, ACY3 +124 more	Duplication	Aicardi-Goutieres syndrome 3 +1 more	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	GRIA4, GRIK4 +956 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1340992	GRCh37/hg19 11q13.3-13.4(chr11:69214835-70821137)x1	ANO1, CCND1 +8 more	Copy number loss	not provided	GPathogenic
Select item 997825	Single allele	ACER3, ACP2 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 442080	GRCh37/hg19 11q13.2-13.4(chr11:67799160-70701268)x1	ANO1, C11orf24 +24 more	Copy number loss	See cases	GLikely pathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	ACP2, CREBZF +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	GALNT18, MPZL3 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 24