ICA1L[gene] - ClinVar

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Items: 45

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	ABI2, AGPS +697 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	LOC129935413, LOC129935414 +1097 more	Copy number gain	See cases	GPathogenic
Select item 59158	GRCh38/hg38 2q32.2-37.3(chr2:188818195-242065208)x3	AAMP, ABCA12 +1703 more	Copy number gain	See cases	GPathogenic
Select item 154206	GRCh38/hg38 2q32.2-37.3(chr2:189436149-241841232)x3	ABCA12, ABCB6 +1687 more	Copy number gain	See cases	GPathogenic
Select item 59159	GRCh38/hg38 2q32.2-37.3(chr2:190310736-241892770)x3	AAMP, ABCA12 +1665 more	Copy number gain	See cases	GPathogenic
Select item 152738	GRCh38/hg38 2q32.3-35(chr2:192938826-215705052)x1	FAM117B, FAM237A +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC126806461, LOC126806467 +1299 more	Copy number gain	See cases	GPathogenic
Select item 146015	GRCh38/hg38 2q32.3-33.2(chr2:195660594-203969488)x1	ABI2, ALS2 +279 more	Copy number loss	See cases	GPathogenic
Select item 155234	GRCh38/hg38 2q33.1-34(chr2:199937273-210031924)x1	ABI2, ADAM23 +298 more	Copy number loss	See cases	GPathogenic
Select item 152538	GRCh38/hg38 2q33.1-34(chr2:199946494-209985195)x1	ABI2, ADAM23 +293 more	Copy number loss	See cases	GPathogenic
Select item 147740	GRCh38/hg38 2q33.2-33.3(chr2:202631428-204929860)x1	ABI2, CARF +47 more	Copy number loss	See cases	GPathogenic
Select item 2472709	NM_001288622.3(ICA1L):c.1405C>A (p.Pro469Thr)	ICA1L (P469T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2347954	NM_001288622.3(ICA1L):c.1187G>A (p.Arg396Gln)	ICA1L (R396Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2454298	NM_001288622.3(ICA1L):c.1174G>A (p.Ala392Thr)	ICA1L (A392T)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2240768	NM_001288622.3(ICA1L):c.1139C>T (p.Thr380Ile)	ICA1L (T380I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2407968	NM_001288622.3(ICA1L):c.1087G>C (p.Glu363Gln)	ICA1L (E363Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2392131	NM_001288622.3(ICA1L):c.1013T>C (p.Leu338Ser)	ICA1L (L338S)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2296774	NM_001288622.3(ICA1L):c.797C>T (p.Thr266Met)	ICA1L (T266M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2250056	NM_001288622.3(ICA1L):c.779T>C (p.Leu260Pro)	ICA1L (L260P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2350256	NM_001288622.3(ICA1L):c.706A>G (p.Lys236Glu)	ICA1L (K236E)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GLikely benign
Select item 2556538	NM_001288622.3(ICA1L):c.386G>T (p.Arg129Leu)	ICA1L (R129L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2320865	NM_001288622.3(ICA1L):c.370T>C (p.Cys124Arg)	ICA1L (C124R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2525232	NM_001288622.3(ICA1L):c.200T>C (p.Leu67Pro)	ICA1L (L67P)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2209611	NM_001288622.3(ICA1L):c.127G>A (p.Val43Met)	ICA1L (V43M)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3062594	GRCh37/hg19 2q32.3-34(chr2:194305623-215261531)x1	ABI2, ACADL +95 more	Copy number loss	not specified	GPathogenic
Select item 2684941	GRCh37/hg19 2q33.2(chr2:203662536-203857352)x1	CARF, ICA1L +1 more	Copy number loss	not provided	GUncertain significance
Select item 2580353	GRCh37/hg19 2q32.1-36.1(chr2:186698504-223918111)x3	AAMP, ABCA12 +208 more	Copy number gain	See cases	GPathogenic
Select item 2423982	NC_000002.11:g.(?_201943606)_(204824322_?)dup	ABI2, ALS2 +25 more	Duplication	Autoimmune lymphoproliferative syndrome type 2B +1 more	GUncertain significance
Select item 1808940	GRCh37/hg19 2q33.2(chr2:203632510-203693302)x1	FAM117B, ICA1L	Copy number loss	not provided	GUncertain significance
Select item 1808483	GRCh37/hg19 2q32.2-34(chr2:189909904-209468383)x1	ABI2, ADAM23 +107 more	Copy number loss	not provided	GPathogenic
Select item 1703543	GRCh37/hg19 2p25.3-q37.3(chr2:1-243199373)	ABCA12, ABCB11 +1216 more	Copy number gain	Mosaic trisomy 2	GPathogenic
Select item 1703524	GRCh37/hg19 2q32.1-34(chr2:185697659-213002074)	ABI2, ACADL +127 more	Copy number loss	Chromosome 2q32-q33 deletion syndrome	GPathogenic
Select item 1526943	GRCh37/hg19 2q33.1-34(chr2:200851079-209054267)	ABI2, ADAM23 +58 more	Copy number loss	not specified	GPathogenic
Select item 1526933	GRCh37/hg19 2q31.1-35(chr2:169829974-215521436)	AGPS, ANKAR +217 more	Copy number gain	not specified	GPathogenic
Select item 1511552	NC_000002.11:g.(?_203420070)_(211811277_?)del	ADAM23, CPO +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 1456057	NC_000002.11:g.(?_201943606)_(204824322_?)del	C2CD6, CASP8 +25 more	Deletion	Immunodeficiency, common variable, 1 +2 more	GPathogenic
Select item 983184	GRCh37/hg19 2q31.2-37.3(chr2:178397959-243007457)x3	AAMP, ABCA12 +384 more	Copy number gain	See cases	GPathogenic
Select item 979399	GRCh37/hg19 2q33.2(chr2:203658040-203743708)x1	ICA1L	Copy number loss	not provided	GUncertain significance
Select item 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
Select item 813271	Single allele	ICA1L, NBEAL1 +4 more	Deletion	Pulmonary arterial hypertension	GLikely pathogenic
Select item 813264	Single allele	FZD7, ICA1L +13 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 813263	Single allele	ABI2, ALS2 +35 more	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 635897	Single allele	ACSL3, ADAM23 +208 more	Duplication	Neurodevelopmental disorder	GPathogenic
Select item 442998	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)	DCAF17, DCDC2C +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	AAK1, AAMP +1214 more	Copy number gain	See cases	GPathogenic

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Items: 45