ARAP1-AS2[gene] - ClinVar

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Items: 26

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
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 2264709	NM_001040118.3(ARAP1):c.2288G>A (p.Arg763His)	ARAP1, ARAP1-AS2 (R457H +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2242346	NM_001040118.3(ARAP1):c.2194C>A (p.Pro732Thr)	ARAP1, ARAP1-AS2 (P732T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 786599	NM_001040118.3(ARAP1):c.2168-10G>A	ARAP1, ARAP1-AS2	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 3128199	NM_001040118.3(ARAP1):c.2158C>G (p.Arg720Gly)	ARAP1, ARAP1-AS2 (R475G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2371531	NM_001040118.3(ARAP1):c.2158C>T (p.Arg720Trp)	ARAP1, ARAP1-AS2 (R414W +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2380563	NM_001040118.3(ARAP1):c.2104G>A (p.Ala702Thr)	ARAP1, ARAP1-AS2 (A396T +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3309406	NM_001040118.3(ARAP1):c.2096C>T (p.Thr699Met)	ARAP1, ARAP1-AS2 (T699M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2220039	NM_001040118.3(ARAP1):c.2039C>T (p.Ala680Val)	ARAP1, ARAP1-AS2 (A374V +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3128197	NM_001040118.3(ARAP1):c.1952G>A (p.Arg651His)	ARAP1, ARAP1-AS2 (R406H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3128196	NM_001040118.3(ARAP1):c.1949G>A (p.Arg650His)	ARAP1, ARAP1-AS2 (R405H +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3128195	NM_001040118.3(ARAP1):c.1904C>G (p.Thr635Ser)	ARAP1, ARAP1-AS2 (T635S +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2351868	NM_001040118.3(ARAP1):c.1865C>T (p.Pro622Leu)	ARAP1, ARAP1-AS2 (P377L +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 3128194	NM_001040118.3(ARAP1):c.1855G>C (p.Ala619Pro)	ARAP1, ARAP1-AS2 (A374P +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2352011	NM_001040118.3(ARAP1):c.1843C>T (p.Arg615Cys)	ARAP1, ARAP1-AS2 (R615C +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2274175	NM_001040118.3(ARAP1):c.1834G>A (p.Ala612Thr)	ARAP1, ARAP1-AS2 (A367T +1 more)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2685411	GRCh37/hg19 11q13.4(chr11:72308632-74236530)x1	ARAP1, ARAP1-AS2 +25 more	Copy number loss	not provided	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 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 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

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Items: 26