ICAM1[gene] - ClinVar

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Items: 58

	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 3056696	NM_000201.3(ICAM1):c.-9A>C	ICAM1, LIMASI	Single nucleotide variant (5 prime UTR variant)	ICAM1-related disorder	GBenign
Select item 2500042	NM_000201.3(ICAM1):c.118C>T (p.Arg40Trp)	ICAM1, LIMASI (R40W)	Single nucleotide variant (missense variant)	Malaria, susceptibility to	GUncertain significance
Select item 2538044	NM_000201.3(ICAM1):c.130G>A (p.Val44Met)	ICAM1, LIMASI (V44M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 721158	NM_000201.3(ICAM1):c.147C>T (p.Ser49=)	LIMASI, ICAM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3048872	NM_000201.3(ICAM1):c.162G>A (p.Gln54=)	ICAM1, LIMASI	Single nucleotide variant (synonymous variant)	ICAM1-related disorder	GLikely benign
Select item 14661	NM_000201.3(ICAM1):c.167A>T (p.Lys56Met)	ICAM1, LIMASI (K56M)	Single nucleotide variant (missense variant)	ICAM1-related disorder	GBenign
Select item 2512368	NM_000201.3(ICAM1):c.224A>G (p.Asn75Ser)	ICAM1, LIMASI (N75S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107886	NM_000201.3(ICAM1):c.292G>C (p.Asp98His)	ICAM1, LIMASI (D98H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2649290	NM_000201.3(ICAM1):c.332-4G>A	ICAM1	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 754597	NM_000201.3(ICAM1):c.366C>G (p.Pro122=)	ICAM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3107887	NM_000201.3(ICAM1):c.400C>A (p.Arg134Ser)	ICAM1 (R134S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517842	NM_000201.3(ICAM1):c.400C>T (p.Arg134Cys)	ICAM1 (R134C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2265121	NM_000201.3(ICAM1):c.416G>A (p.Gly139Asp)	ICAM1 (G139D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2256500	NM_000201.3(ICAM1):c.442G>A (p.Val148Met)	ICAM1 (V148M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2490471	NM_000201.3(ICAM1):c.454C>T (p.Arg152Cys)	ICAM1 (R152C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2554250	NM_000201.3(ICAM1):c.499G>T (p.Ala167Ser)	ICAM1 (A167S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2378075	NM_000201.3(ICAM1):c.503A>C (p.Glu168Ala)	ICAM1 (E168A)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2507936	NM_000201.3(ICAM1):c.515C>T (p.Thr172Met)	ICAM1 (T172M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2369616	NM_000201.3(ICAM1):c.539A>G (p.His180Arg)	ICAM1 (H180R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107888	NM_000201.3(ICAM1):c.559C>T (p.Arg187Cys)	ICAM1 (R187C)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2689229	NM_000201.3(ICAM1):c.571G>C (p.Asp191His)	ICAM1 (D191H)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 2512987	NM_000201.3(ICAM1):c.613G>A (p.Ala205Thr)	ICAM1 (A205T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2456549	NM_000201.3(ICAM1):c.614C>T (p.Ala205Val)	ICAM1 (A205V)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3048192	NM_000201.3(ICAM1):c.693G>A (p.Thr231=)	ICAM1	Single nucleotide variant (synonymous variant)	ICAM1-related disorder	GLikely benign
Select item 2306297	NM_000201.3(ICAM1):c.696G>C (p.Gln232His)	ICAM1 (Q232H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2299255	NM_000201.3(ICAM1):c.703G>A (p.Val235Met)	ICAM1 (V235M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 759391	NM_000201.3(ICAM1):c.720C>T (p.Asp240=)	ICAM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 3060438	NM_000201.3(ICAM1):c.721G>A (p.Gly241Arg)	ICAM1 (G241R)	Single nucleotide variant (missense variant)	ICAM1-related disorder	GBenign
Select item 717487	NM_000201.3(ICAM1):c.837C>T (p.Thr279=)	ICAM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GBenign/Likely benign
Select item 781441	NM_000201.3(ICAM1):c.846C>T (p.Asp282=)	ICAM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 746940	NM_000201.3(ICAM1):c.867G>A (p.Thr289=)	ICAM1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 2599672	NM_000201.3(ICAM1):c.937C>A (p.Pro313Thr)	ICAM1 (P313T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2517272	NM_000201.3(ICAM1):c.941A>T (p.Asn314Ile)	ICAM1 (N314I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2385287	NM_000201.3(ICAM1):c.972A>T (p.Glu324Asp)	ICAM1 (E324D)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 713658	NM_000201.3(ICAM1):c.988G>A (p.Val330Met)	ICAM1 (V330M)	Single nucleotide variant (missense variant)	not provided +1 more	GLikely benign
Select item 710376	NM_000201.3(ICAM1):c.1095C>T (p.Asn365=)	ICAM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 2288631	NM_000201.3(ICAM1):c.1129G>A (p.Val377Met)	ICAM1 (V377M)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 768970	NM_000201.3(ICAM1):c.1190G>A (p.Arg397Gln)	ICAM1 (R397Q)	Single nucleotide variant (missense variant)	not provided	GBenign
Select item 1675090	NM_000201.3(ICAM1):c.1212G>A (p.Pro404=)	ICAM1	Single nucleotide variant (synonymous variant)	Malaria, susceptibility to	GUncertain significance
Select item 788686	NM_000201.3(ICAM1):c.1224G>A (p.Thr408=)	ICAM1	Single nucleotide variant (synonymous variant)	not provided	GBenign
Select item 734259	NM_000201.3(ICAM1):c.1323C>T (p.Ile441=)	ICAM1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 717372	NM_000201.3(ICAM1):c.1372C>T (p.Arg458Trp)	ICAM1 (R458W)	Single nucleotide variant (missense variant)	not provided +1 more	GBenign/Likely benign
Select item 2345629	NM_000201.3(ICAM1):c.1373G>A (p.Arg458Gln)	ICAM1 (R458Q)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 3060077	NM_000201.3(ICAM1):c.1405A>G (p.Lys469Glu)	ICAM1 (K469E)	Single nucleotide variant (missense variant)	ICAM1-related disorder	GBenign
Select item 2649291	NM_000201.3(ICAM1):c.1427-6C>T	ICAM1	Single nucleotide variant (intron variant)	ICAM1-related disorder +1 more	GLikely benign
Select item 2295318	NM_000201.3(ICAM1):c.1429C>T (p.Pro477Ser)	ICAM1 (P477S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 828004	NM_000201.3(ICAM1):c.1432C>T (p.Arg478Trp)	ICAM1 (R478W)	Single nucleotide variant (missense variant)	Malaria, susceptibility to	GUncertain significance
Select item 2296377	NM_000201.3(ICAM1):c.1435T>C (p.Tyr479His)	ICAM1 (Y479H)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107885	NM_000201.3(ICAM1):c.1468G>A (p.Ala490Thr)	ICAM1 (A490T)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1675089	NM_000201.3(ICAM1):c.1546C>T (p.Gln516Ter)	ICAM1 (Q516*)	Single nucleotide variant (nonsense)	Malaria, susceptibility to	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: 58