ICAM2[gene] - ClinVar

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Items: 24

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148363	GRCh38/hg38 17q23.1-25.1(chr17:36449220-75053130)x3	ABCA10, ADAM11 +2032 more	Copy number gain	See cases	GPathogenic
Select item 57282	GRCh38/hg38 17q21.33-24.2(chr17:36449220-68170214)x3	LOC130060795, LOC130060796 +1753 more	Copy number gain	See cases	GPathogenic
Select item 2214426	NM_001099789.2(ICAM2):c.788G>A (p.Arg263Gln)	ICAM2, PRR29 (R263Q)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2592622	NM_001099789.2(ICAM2):c.758G>A (p.Arg253His)	ICAM2, PRR29 (R253H)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GLikely benign
Select item 2454334	NM_001099789.2(ICAM2):c.714C>G (p.Phe238Leu)	ICAM2, PRR29 (F238L)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2620709	NM_001099789.2(ICAM2):c.692T>C (p.Val231Ala)	ICAM2, PRR29 (V231A)	Single nucleotide variant (3 prime UTR variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2514972	NM_001099789.2(ICAM2):c.484G>A (p.Gly162Arg)	ICAM2, PRR29 (G162R)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2281394	NM_001099789.2(ICAM2):c.431G>A (p.Ser144Asn)	ICAM2, PRR29 (S144N)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2296208	NM_001099789.2(ICAM2):c.421C>G (p.Pro141Ala)	PRR29, ICAM2 (P141A)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2341127	NM_001099789.2(ICAM2):c.395T>C (p.Ile132Thr)	ICAM2, PRR29 (I132T)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 2323583	NM_001099789.2(ICAM2):c.316G>A (p.Val106Ile)	ICAM2 (V106I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2289767	NM_001099789.2(ICAM2):c.211G>A (p.Glu71Lys)	ICAM2 (E71K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2476623	NM_001099789.2(ICAM2):c.133G>A (p.Glu45Lys)	ICAM2 (E45K)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2255435	NM_001099789.2(ICAM2):c.91G>T (p.Val31Leu)	ICAM2 (V31L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2271269	NM_001099789.2(ICAM2):c.13G>A (p.Gly5Ser)	ICAM2 (G5S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 1808405	GRCh37/hg19 17q23.3(chr17:61838634-62465444)x4	CCDC47, CD79B +16 more	Copy number gain	not provided	GUncertain significance
Select item 685257	GRCh37/hg19 17q23.1-24.2(chr17:57869604-67078443)x3	ABCA6, ABCA8 +79 more	Copy number gain	not provided	GPathogenic
Select item 625756	GRCh37/hg19 17q22-24.2(chr17:57357088-66306668)	ACE, AMZ2 +77 more	Copy number gain	not provided	GPathogenic
Select item 477396	NC_000017.10:g.(?_62018111)_(62987152_?)dup	CEP95, DDX5 +10 more	Duplication	Hyperkalemic periodic paralysis	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	TNFSF12, TNFSF12-TNFSF13 +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	AIPL1, AKAP1 +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 253549	GRCh37/hg19 17q22-23.3(chr17:56321134-62080001)x3	TANC2, DDX42 +66 more	Copy number gain	See cases	GPathogenic
Select item 58702	GRCh37/hg19 17q23-24(chr17:59209629-64222315)x3	ACE, APOH +48 more	Copy number gain	See cases	GPathogenic

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Items: 24