ICAM4[gene] - ClinVar

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Items: 34

	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 2461507	NM_001544.5(ICAM4):c.52C>T (p.Pro18Ser)	ICAM4, ICAM4-AS1 (P18S)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1050440	NM_001544.5(ICAM4):c.54G>A (p.Pro18=)	ICAM4, ICAM4-AS1	Single nucleotide variant (synonymous variant)	not provided	GUncertain significance
Select item 2619181	NM_001544.5(ICAM4):c.127G>A (p.Gly43Arg)	ICAM4, ICAM4-AS1 (G43R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2620460	NM_001544.5(ICAM4):c.145T>C (p.Trp49Arg)	ICAM4, ICAM4-AS1 (W49R)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2406780	NM_001544.5(ICAM4):c.159C>A (p.Ser53Arg)	ICAM4, ICAM4-AS1 (S53R)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2352983	NM_001544.5(ICAM4):c.182C>T (p.Pro61Leu)	ICAM4, ICAM4-AS1 (P61L)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 17715	NM_001544.5(ICAM4):c.299A>G (p.Gln100Arg)	ICAM4, ICAM4-AS1 (Q100R)	Single nucleotide variant (missense variant)	Landsteiner-Wiener phenotype	GAffects
Select item 1185005	NM_001544.5(ICAM4):c.309C>A (p.Asp103Glu)	ICAM4, ICAM4-AS1 (D103E)	Single nucleotide variant (missense variant)	Landsteiner-Wiener phenotype	GUncertain significance
Select item 31099	NM_001544.5(ICAM4):c.346_355del (p.Thr116fs)	ICAM4, ICAM4-AS1 (T116fs)	Deletion (frameshift variant)	Landsteiner-Wiener phenotype	GAffects
Select item 2321610	NM_001544.5(ICAM4):c.374C>T (p.Thr125Ile)	ICAM4, ICAM4-AS1 (T125I)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2542781	NM_001544.5(ICAM4):c.422C>T (p.Pro141Leu)	ICAM4, ICAM4-AS1 (P141L)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107913	NM_001544.5(ICAM4):c.464T>C (p.Val155Ala)	ICAM4, ICAM4-AS1 (V155A)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GUncertain significance
Select item 2276367	NM_001544.5(ICAM4):c.479C>G (p.Pro160Arg)	ICAM4, ICAM4-AS1 (P160R)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3107915	NM_001544.5(ICAM4):c.490T>A (p.Leu164Met)	ICAM4, ICAM4-AS1 (L138H +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2467837	NM_001544.5(ICAM4):c.508C>T (p.His170Tyr)	ICAM4, ICAM4-AS1 (A144V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107916	NM_001544.5(ICAM4):c.544C>T (p.Arg182Cys)	ICAM4, ICAM4-AS1 (A156V +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 2279696	NM_001544.5(ICAM4):c.586G>A (p.Glu196Lys)	ICAM4, ICAM4-AS1 (E196K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2483233	NM_001544.5(ICAM4):c.616C>A (p.Gln206Lys)	ICAM4, ICAM4-AS1 (A180E +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3037227	NM_001544.5(ICAM4):c.622G>C (p.Val208Leu)	ICAM4, ICAM4-AS1 (R182P +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	ICAM4-related disorder	GLikely benign
Select item 3107917	NM_001544.5(ICAM4):c.648C>T (p.Leu216=)	ICAM4, ICAM4-AS1 (R191*)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2304593	NM_001544.5(ICAM4):c.674C>G (p.Ser225Trp)	ICAM4, ICAM4-AS1 (S225W)	Single nucleotide variant (synonymous variant +1 more)	not specified	GUncertain significance
Select item 3107918	NM_001544.5(ICAM4):c.678A>C (p.Ala226=)	ICAM4, ICAM4-AS1 (T201P)	Single nucleotide variant (non-coding transcript variant +2 more)	not specified	GLikely benign
Select item 2325905	NM_001544.5(ICAM4):c.691A>G (p.Met231Val)	ICAM4, ICAM4-AS1 (M231V +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2597454	NM_001544.5(ICAM4):c.709G>A (p.Ala237Thr)	ICAM4, ICAM4-AS1 (A237T +1 more)	Single nucleotide variant (non-coding transcript variant +1 more)	not specified	GUncertain significance
Select item 3248456	NC_000019.9:g.(?_10244343)_(10610709_?)del	CDC37, DNMT1 +12 more	Deletion	Immunodeficiency 35	GPathogenic
Select item 3248376	NC_000019.9:g.(?_10244343)_(11231218_?)del	AP1M2, ATG4D +29 more	Deletion	Familial hypercholesterolemia	GPathogenic
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: 34