L1TD1[gene] - ClinVar

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Items: 47

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58079	GRCh38/hg38 1p32.3-31.1(chr1:52595352-76767765)x3	LOC129388541, LOC129388542 +570 more	Copy number gain	See cases	GPathogenic
Select item 153325	GRCh38/hg38 1p32.3-31.3(chr1:52787503-67339873)x3	LOC129930559, LOC129930560 +422 more	Copy number gain	See cases	GLikely pathogenic
Select item 150647	GRCh38/hg38 1p32.3-31.3(chr1:53627272-64248854)x1	ACOT11, ALG6 +280 more	Copy number loss	See cases	GPathogenic
Select item 59970	GRCh38/hg38 1p32.2-31.1(chr1:57350574-71325924)x1	AK4, ALG6 +339 more	Copy number loss	See cases	GPathogenic
Select item 147765	GRCh38/hg38 1p32.1-22.3(chr1:58819605-86098611)x1	LOC129930848, LOC129930849 +558 more	Copy number loss	See cases	GPathogenic
Select item 144714	GRCh38/hg38 1p32.1-31.2(chr1:58819605-69107108)x1	AK4, ALG6 +276 more	Copy number loss	See cases	GPathogenic
Select item 59971	GRCh38/hg38 1p32.1-31.1(chr1:59632500-76730877)x1	LOC126805749, LOC126805750 +331 more	Copy number loss	See cases	GPathogenic
Select item 144228	GRCh38/hg38 1p32.1-31.1(chr1:59760856-71578052)x1	AK4, ALG6 +270 more	Copy number loss	See cases	GPathogenic
Select item 57090	GRCh38/hg38 1p32.1-31.1(chr1:60473800-70944955)x1	AK4, ALG6 +253 more	Copy number loss	See cases	GPathogenic
Select item 2579168	GRCh38/hg38 1p31.3(chr1:61077177-62865614)x1	LOC111501769, LOC121725026 +43 more	Copy number loss	Brain malformations with or without urinary tract defects	GPathogenic
Select item 57304	GRCh38/hg38 1p31.3(chr1:61258246-63189366)x3	ANGPTL3, ATG4C +44 more	Copy number gain	See cases	GUncertain significance
Select item 58081	GRCh38/hg38 1p31.3(chr1:61922650-66445757)x3	AK4, ALG6 +129 more	Copy number gain	See cases	GPathogenic
Select item 2526863	NM_019079.5(L1TD1):c.202G>A (p.Glu68Lys)	L1TD1 (E68K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2604069	NM_019079.5(L1TD1):c.257C>T (p.Thr86Ile)	L1TD1 (T86I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2260674	NM_019079.5(L1TD1):c.367A>C (p.Asn123His)	L1TD1 (N123H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2528710	NM_019079.5(L1TD1):c.462T>G (p.Ser154Arg)	L1TD1 (S154R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2292221	NM_019079.5(L1TD1):c.533T>C (p.Leu178Ser)	L1TD1 (L178S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2315467	NM_019079.5(L1TD1):c.1111A>G (p.Met371Val)	L1TD1 (M371V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2473631	NM_019079.5(L1TD1):c.1191T>A (p.Asp397Glu)	L1TD1 (D397E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2287547	NM_019079.5(L1TD1):c.1202C>T (p.Ser401Leu)	L1TD1 (S401L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2319386	NM_019079.5(L1TD1):c.1285G>T (p.Ala429Ser)	L1TD1 (A429S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476832	NM_019079.5(L1TD1):c.1300G>A (p.Glu434Lys)	L1TD1 (E434K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2318890	NM_019079.5(L1TD1):c.1363A>G (p.Lys455Glu)	L1TD1 (K455E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240974	NM_019079.5(L1TD1):c.1510C>G (p.Arg504Gly)	L1TD1 (R504G)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2531204	NM_019079.5(L1TD1):c.1585G>C (p.Val529Leu)	L1TD1 (V529L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2638859	NM_019079.5(L1TD1):c.1590C>T (p.His530=)	L1TD1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2358080	NM_019079.5(L1TD1):c.1600G>A (p.Glu534Lys)	L1TD1 (E534K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2490149	NM_019079.5(L1TD1):c.1666G>C (p.Ala556Pro)	L1TD1 (A556P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2210774	NM_019079.5(L1TD1):c.1678A>G (p.Lys560Glu)	L1TD1 (K560E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2219111	NM_019079.5(L1TD1):c.1690A>G (p.Met564Val)	L1TD1 (M564V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2616430	NM_019079.5(L1TD1):c.1705C>T (p.His569Tyr)	L1TD1 (H569Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2328159	NM_019079.5(L1TD1):c.1742C>G (p.Thr581Arg)	L1TD1 (T581R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 784567	NM_019079.5(L1TD1):c.1805_1808del (p.Leu602fs)	L1TD1 (L602fs)	Deletion (frameshift variant)	not provided	GBenign
Select item 2242323	NM_019079.5(L1TD1):c.2537T>G (p.Phe846Cys)	L1TD1 (F846C)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2384324	NM_019079.5(L1TD1):c.2545T>G (p.Tyr849Asp)	L1TD1 (Y849D)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062689	GRCh37/hg19 1p32.1-31.3(chr1:60641326-65216639)x1	ALG6, ANGPTL3 +16 more	Copy number loss	not specified	GPathogenic
Select item 2425382	NC_000001.10:g.(?_61548464)_(67861772_?)del	AK4, ALG6 +32 more	Deletion	not provided	GPathogenic
Select item 1340929	GRCh37/hg19 1p31.3(chr1:62575113-62857160)x3	KANK4, L1TD1 +1 more	Copy number gain	not provided	GUncertain significance
Select item 981205	GRCh37/hg19 1p32.3-31.3(chr1:53675707-66644963)x1	JUN, KANK4 +67 more	Copy number loss	Chromosome 1p32-p31 deletion syndrome	GPathogenic
Select item 814088	GRCh37/hg19 1p31.3(chr1:62580200-62878074)x3	L1TD1, KANK4 +1 more	Copy number gain	not provided	GUncertain significance
Select item 666427	Single allele	ITGB3BP, JAK1 +53 more	Deletion	Intellectual disability, severe	GPathogenic
Select item 635767	GRCh37/hg19 1p36.22-21.1(chr1:103343285-103455144)x3	ANGPTL7, C1orf127 +783 more	Copy number gain	Intellectual disability, mild +1 more	GUncertain significance
Select item 565103	GRCh37/hg19 1p31.3(chr1:62468555-65584629)x3	KANK4, EFCAB7 +16 more	Copy number gain	not provided	GUncertain significance
Select item 565102	GRCh37/hg19 1p31.3-31.1(chr1:62434799-71656180)x3	AK4, ALG6 +46 more	Copy number gain	not provided	GPathogenic
Select item 442387	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)	PADI1, PADI2 +2014 more	Copy number gain	See cases	GPathogenic
Select item 442386	GRCh37/hg19 1p36.33-q44(chr1:849467-249224684)x3	NID1, NIPAL3 +2014 more	Copy number gain	See cases	GPathogenic
Select item 441647	GRCh37/hg19 1p31.3-31.1(chr1:61351024-79583933)x1	ACADM, ADGRL4 +78 more	Copy number loss	See cases	GPathogenic

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Items: 47