ClinVar for Gene (Select 3385) - ClinVar

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Links from Gene

Items: 61

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 3285180	NM_002162.5(ICAM3):c.1001T>C (p.Val334Ala)	ICAM3 (V238A +5 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285179	NM_002162.5(ICAM3):c.892C>G (p.Leu298Val)	ICAM3 (L103V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285178	NM_002162.5(ICAM3):c.1465G>T (p.Val489Phe)	ICAM3 (V198F +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3285177	NM_002162.5(ICAM3):c.917G>A (p.Arg306Gln)	ICAM3 (R306Q +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3285176	NM_002162.5(ICAM3):c.1313A>C (p.Glu438Ala)	ICAM3 (E102A +6 more)	Single nucleotide variant (missense variant)	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 3107912	NM_002162.5(ICAM3):c.728T>C (p.Leu243Pro)	ICAM3 (L166P +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107911	NM_002162.5(ICAM3):c.664C>T (p.Pro222Ser)	ICAM3 (P27S +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107910	NM_002162.5(ICAM3):c.662C>T (p.Thr221Ile)	ICAM3 (T144I +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107909	NM_002162.5(ICAM3):c.656C>T (p.Pro219Leu)	ICAM3 (P142L +2 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3107908	NM_002162.5(ICAM3):c.643A>C (p.Thr215Pro)	ICAM3 (T20P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107907	NM_002162.5(ICAM3):c.605G>A (p.Gly202Glu)	ICAM3 (G7E +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GLikely benign
Select item 3107906	NM_002162.5(ICAM3):c.305G>A (p.Gly102Asp)	ICAM3 (G102D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107905	NM_002162.5(ICAM3):c.235G>A (p.Gly79Ser)	ICAM3 (G79S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107904	NM_002162.5(ICAM3):c.185A>G (p.Lys62Arg)	ICAM3 (K62R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3107903	NM_002162.5(ICAM3):c.1447A>G (p.Ser483Gly)	ICAM3 (S222G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107902	NM_002162.5(ICAM3):c.1403G>A (p.Arg468Gln)	ICAM3 (R207Q +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107901	NM_002162.5(ICAM3):c.1217C>T (p.Thr406Ile)	ICAM3 (T115I +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107899	NM_002162.5(ICAM3):c.1178A>G (p.Gln393Arg)	ICAM3 (Q316R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107898	NM_002162.5(ICAM3):c.1012G>A (p.Ala338Thr)	ICAM3 (A261T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3107897	NM_002162.5(ICAM3):c.1010T>A (p.Met337Lys)	ICAM3 (M1K +6 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3062391	GRCh37/hg19 19p13.2(chr19:10441330-13077352)x1	MIR199A1, ODAD3 +87 more	Copy number loss	not specified	GPathogenic
Select item 2603181	NM_002162.5(ICAM3):c.487C>T (p.Arg163Trp)	ICAM3 (R86W +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2588878	NM_002162.5(ICAM3):c.337G>A (p.Val113Met)	ICAM3 (V113M +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2559789	NM_002162.5(ICAM3):c.880T>A (p.Cys294Ser)	ICAM3 (C294S +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2545300	NM_002162.5(ICAM3):c.1300C>T (p.Arg434Trp)	ICAM3 (R173W +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2539820	NM_002162.5(ICAM3):c.365T>C (p.Leu122Pro)	ICAM3 (L122P +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2526665	NM_002162.5(ICAM3):c.302A>G (p.Asn101Ser)	ICAM3 (N101S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2509583	NM_002162.5(ICAM3):c.1028A>G (p.Gln343Arg)	ICAM3 (Q52R +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2492054	NM_002162.5(ICAM3):c.1355T>C (p.Val452Ala)	ICAM3 (V116A +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2485614	NM_002162.5(ICAM3):c.866C>T (p.Ala289Val)	ICAM3 (A212V +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2484113	NM_002162.5(ICAM3):c.335C>T (p.Thr112Ile)	ICAM3 (T112I +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2409883	NM_002162.5(ICAM3):c.1088A>C (p.Asn363Thr)	ICAM3 (N286T +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2388700	NM_002162.5(ICAM3):c.1244A>G (p.Asp415Gly)	ICAM3 (D338G +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2356988	NM_002162.5(ICAM3):c.564C>G (p.Phe188Leu)	ICAM3 (F111L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2341286	NM_002162.5(ICAM3):c.58T>C (p.Cys20Arg)	ICAM3 (C20R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2339200	NM_002162.5(ICAM3):c.802A>C (p.Met268Leu)	ICAM3 (M268L +3 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2338866	NM_002162.5(ICAM3):c.1390G>C (p.Ala464Pro)	ICAM3 (A128P +6 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2309757	NM_002162.5(ICAM3):c.20C>A (p.Ser7Tyr)	ICAM3, LOC130063488 (S7Y)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2253371	NM_002162.5(ICAM3):c.641G>C (p.Arg214Pro)	ICAM3 (R137P +2 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2244287	NM_002162.5(ICAM3):c.139G>A (p.Gly47Arg)	ICAM3 (G47R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2240058	NM_002162.5(ICAM3):c.350C>T (p.Pro117Leu)	ICAM3 (P40L +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2225363	NM_002162.5(ICAM3):c.224C>T (p.Ala75Val)	ICAM3 (A75V)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2209347	NM_002162.5(ICAM3):c.559C>T (p.Pro187Ser)	ICAM3 (P110S +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2208270	NM_002162.5(ICAM3):c.1351T>C (p.Phe451Leu)	ICAM3 (F115L +6 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 1340718	GRCh37/hg19 19p13.2(chr19:9941033-11739567)x3	ACP5, ANGPTL6 +59 more	Copy number gain	not provided	GUncertain significance
Select item 710379	NM_002162.5(ICAM3):c.187A>G (p.Ile63Val)	ICAM3 (I63V)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign
Select item 710378	NM_002162.5(ICAM3):c.343+8G>A	ICAM3	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 710377	NM_002162.5(ICAM3):c.873G>A (p.Glu291=)	ICAM3	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 688450	GRCh37/hg19 19p13.2(chr19:10441330-10977962)x1	CDKN2D, DNM2 +16 more	Copy number loss	not provided	GUncertain significance
Select item 443499	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)	PGLYRP1, PGLYRP2 +1364 more	Copy number gain	See cases	GPathogenic
Select item 443498	GRCh37/hg19 19p13.3-q13.43(chr19:260912-58956888)x3	TMC4, TMED1 +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
Select item 153250	GRCh38/hg38 19p13.2(chr19:10330655-10920552)x1	AP1M2, ATG4D +84 more	Copy number loss	See cases	GLikely pathogenic
Select item 153069	GRCh38/hg38 19p13.2-13.13(chr19:10319474-13777860)x1	ACP5, ANGPTL8 +434 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 146077	GRCh38/hg38 19p13.2(chr19:9735443-11228001)x1	PPAN, PPAN-P2RY11 +184 more	Copy number loss	See cases	GPathogenic
Select item 59111	GRCh38/hg38 19p13.2-13.12(chr19:10315258-14048994)x3	LOC130063608, LOC130063609 +484 more	Copy number gain	See cases	GPathogenic
Select item 59110	GRCh38/hg38 19p13.2-13.13(chr19:8831147-13331227)x3	LOC126862863, LOC126862864 +536 more	Copy number gain	See cases	GLikely pathogenic

ClinVar

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Links from Gene

Items: 61