26068[HGNC] - ClinVar

Warning: The NCBI web site requires JavaScript to function. more...

Search results

Items: 22

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58164	GRCh38/hg38 11q13.4(chr11:71164008-72309374)x3	ACTE1P, ANAPC15 +67 more	Copy number gain	See cases	GUncertain significance
Select item 58916	GRCh38/hg38 11q13.4-13.5(chr11:71928796-77064521)x1	LOC130006424, LOC130006425 +305 more	Copy number loss	See cases	GPathogenic
Select item 58917	GRCh38/hg38 11q13.4-14.1(chr11:71969881-78232895)x1	AAMDC, ACER3 +355 more	Copy number loss	See cases	GPathogenic
Select item 2642117	NM_017907.3(LAMTOR1):c.420C>T (p.Tyr140=)	LAMTOR1, LRTOMT	Single nucleotide variant (intron variant +1 more)	not provided	GLikely benign
Select item 3117760	NM_017907.3(LAMTOR1):c.351A>T (p.Gln117His)	LAMTOR1, LRTOMT (Q117H)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3117759	NM_017907.3(LAMTOR1):c.326C>T (p.Pro109Leu)	LAMTOR1, LRTOMT (P109L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545677	NM_017907.3(LAMTOR1):c.191A>T (p.Asn64Ile)	LAMTOR1, LRTOMT (N64I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2365472	NM_017907.3(LAMTOR1):c.116A>T (p.Asn39Ile)	LAMTOR1, LRTOMT (N39I)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2516976	NM_017907.3(LAMTOR1):c.97C>G (p.Leu33Val)	LAMTOR1, LRTOMT (L33V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2221537	NM_017907.3(LAMTOR1):c.73C>T (p.Pro25Ser)	LAMTOR1, LRTOMT (P25S)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341365	NM_017907.3(LAMTOR1):c.56G>A (p.Arg19Gln)	LAMTOR1, LRTOMT (R19Q)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2296876	NM_017907.3(LAMTOR1):c.53A>C (p.Glu18Ala)	LAMTOR1, LRTOMT (E18A)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2684646	GRCh37/hg19 11q12.2-13.5(chr11:59923608-76272324)x3	FOLR2, RAB3IL1 +362 more	Copy number gain	not provided	GPathogenic
Select item 2426953	NC_000011.9:g.(?_71146421)_(75283128_?)dup	ANAPC15, ARAP1 +63 more	Duplication	3-methylglutaconic aciduria, type VIIB	GUncertain significance
Select item 1808063	GRCh37/hg19 11q13.4(chr11:71777538-72144933)x3	ANAPC15, CLPB +8 more	Copy number gain	not provided	GUncertain significance
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1527647	GRCh37/hg19 11q13.4(chr11:71567724-72488649)	ANAPC15, ARAP1 +15 more	Copy number loss	not specified	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 830767	NC_000011.9:g.(?_71146401)_(71907241_?)dup	ANAPC15, DEFB108B +16 more	Duplication	Cerebral folate transport deficiency	GUncertain significance
Select item 563885	GRCh37/hg19 11q13.4-23.3(chr11:71588805-116680918)x3	AAMDC, AASDHPPT +261 more	Copy number gain	not provided	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

ClinVar

Result Filters

Classification type

Germline classification

Types of conflicts

Molecular consequence

Variation type

Variation size

Variant length

Review status

Additional filters

Search results

Items: 22