ICAM5[gene] - ClinVar

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Items: 40

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic
Select item 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 147570	GRCh38/hg38 19p13.2(chr19:10156406-10889688)x3	LOC130063493, LOC130063494 +116 more	Copy number gain	See cases	GPathogenic
Select item 3107925	NM_003259.4(ICAM5):c.364C>T (p.Arg122Cys)	ICAM5 (R122C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2360915	NM_003259.4(ICAM5):c.448C>A (p.Arg150Ser)	ICAM5 (R150S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107926	NM_003259.4(ICAM5):c.449G>A (p.Arg150His)	ICAM5 (R150H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2278838	NM_003259.4(ICAM5):c.574C>T (p.His192Tyr)	ICAM5 (H192Y)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107927	NM_003259.4(ICAM5):c.701C>T (p.Ala234Val)	ICAM5 (A234V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107928	NM_003259.4(ICAM5):c.722T>C (p.Val241Ala)	ICAM5 (V241A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2527287	NM_003259.4(ICAM5):c.740T>C (p.Val247Ala)	ICAM5 (V247A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2562478	NM_003259.4(ICAM5):c.770C>T (p.Ala257Val)	ICAM5 (A257V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2324013	NM_003259.4(ICAM5):c.880C>G (p.Gln294Glu)	ICAM5 (Q294E)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2260101	NM_003259.4(ICAM5):c.881A>T (p.Gln294Leu)	ICAM5 (Q294L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554705	NM_003259.4(ICAM5):c.977T>G (p.Leu326Arg)	ICAM5 (L326R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2359807	NM_003259.4(ICAM5):c.1120G>A (p.Glu374Lys)	ICAM5 (E374K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2315863	NM_003259.4(ICAM5):c.1355T>C (p.Leu452Pro)	ICAM5 (L452P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2253536	NM_003259.4(ICAM5):c.1369C>G (p.Leu457Val)	ICAM5 (L457V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107920	NM_003259.4(ICAM5):c.1622G>C (p.Arg541Pro)	ICAM5 (R541P)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2407975	NM_003259.4(ICAM5):c.1728G>T (p.Glu576Asp)	ICAM5 (E576D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2297386	NM_003259.4(ICAM5):c.1765G>A (p.Gly589Arg)	ICAM5 (G589R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2389570	NM_003259.4(ICAM5):c.1841C>A (p.Ala614Asp)	ICAM5 (A614D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2476464	NM_003259.4(ICAM5):c.1870C>T (p.Pro624Ser)	ICAM5 (P624S)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3107921	NM_003259.4(ICAM5):c.1873C>T (p.Pro625Ser)	ICAM5 (P625S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2354798	NM_003259.4(ICAM5):c.1895C>T (p.Pro632Leu)	ICAM5 (P632L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554251	NM_003259.4(ICAM5):c.1982G>A (p.Ser661Asn)	ICAM5 (S661N)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554255	NM_003259.4(ICAM5):c.1983C>A (p.Ser661Arg)	ICAM5 (S661R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2604454	NM_003259.4(ICAM5):c.2078G>A (p.Arg693Gln)	ICAM5 (R693Q)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107922	NM_003259.4(ICAM5):c.2128C>T (p.Pro710Ser)	ICAM5 (P710S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 994317	NM_003259.4(ICAM5):c.2198C>T (p.Thr733Met)	ICAM5 (T733M)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 3107923	NM_003259.4(ICAM5):c.2248G>A (p.Glu750Lys)	ICAM5 (E750K)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107924	NM_003259.4(ICAM5):c.2489G>A (p.Arg830His)	ICAM5 (R830H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2528731	NM_003259.4(ICAM5):c.2674G>C (p.Gly892Arg)	ICAM5 (G892R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2603034	NM_003259.4(ICAM5):c.2713G>A (p.Gly905Arg)	ICAM5 (G905R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2366213	NM_003259.4(ICAM5):c.2717G>A (p.Gly906Asp)	ICAM5 (G906D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2288870	NM_003259.4(ICAM5):c.2752G>T (p.Ala918Ser)	ICAM5 (A918S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	BICRA, BLOC1S3 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	A1BG, ABCA7 +1364 more	Copy number gain	See cases	GPathogenic
Select item 395688	GRCh37/hg19 19p13.2-13.12(chr19:9678768-14853426)	ADGRL1, ANGPTL6 +153 more	Copy number gain	See cases	GPathogenic
Select item 394483	GRCh37/hg19 19p13.2(chr19:10286133-11040457)x1	AP1M2, ATG4D +27 more	Copy number loss	See cases	GPathogenic

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Items: 40