ABI2[gene] - ClinVar

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Items: 43

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 57301	GRCh38/hg38 2q31.1-33.2(chr2:174898848-203941548)x1	LOC129935164, LOC129935165 +697 more	Copy number loss	See cases	GPathogenic
Select item 150620	GRCh38/hg38 2q31.3-36.2(chr2:180513793-224302848)x3	INPP1, ITGA4 +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	LOC129935343, LOC129935344 +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	ABCA12, ABI2 +509 more	Copy number loss	See cases	GPathogenic
Select item 57419	GRCh38/hg38 2q32.3-37.3(chr2:194898783-236473913)x3	LOC129935480, LOC129935481 +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 3131298	NM_001375670.1(ABI2):c.38C>T (p.Pro13Leu)	ABI2 (P13L)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3131286	NM_001375670.1(ABI2):c.251G>A (p.Arg84Gln)	ABI2 (R84Q +3 more)	Single nucleotide variant (missense variant +3 more)	not specified	GUncertain significance
Select item 2558337	NM_001375670.1(ABI2):c.268A>G (p.Ile90Val)	ABI2 (I90V +2 more)	Single nucleotide variant (intron variant +4 more)	not specified	GUncertain significance
Select item 2535800	NM_001375670.1(ABI2):c.344A>G (p.Asn115Ser)	ABI2 (N41S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2610704	NM_001375670.1(ABI2):c.382G>T (p.Ala128Ser)	ABI2 (A98S +4 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 3045954	NM_001375670.1(ABI2):c.421A>G (p.Ile141Val)	ABI2 (I111V +4 more)	Single nucleotide variant (missense variant +2 more)	not specified +1 more	GConflicting classifications of pathogenicity
Select item 3131310	NM_001375670.1(ABI2):c.763C>T (p.Arg255Trp)	ABI2 (R176W +26 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2406508	NM_001375670.1(ABI2):c.811A>G (p.Ile271Val)	ABI2 (I141V +26 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2619398	NM_001375670.1(ABI2):c.1155T>A (p.Asn385Lys)	ABI2 (N223K +30 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3131318	NM_001375670.1(ABI2):c.1165G>A (p.Gly389Arg)	ABI2 (G217R +30 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2357392	NM_001375670.1(ABI2):c.1255T>A (p.Phe419Ile)	ABI2 (F228I +25 more)	Single nucleotide variant (missense variant +2 more)	not specified	GUncertain significance
Select item 2285526	NM_001375670.1(ABI2):c.1519A>C (p.Ile507Leu)	ABI2 (I306L +62 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2227437	NM_001375670.1(ABI2):c.1600G>A (p.Val534Ile)	ABI2 (V362I +60 more)	Single nucleotide variant (missense variant +3 more)	not specified	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 3062481	GRCh37/hg19 2q33.2-34(chr2:204110688-211638554)x1	ABI2, ACADL +38 more	Copy number loss	not specified	GPathogenic
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 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 814337	GRCh37/hg19 2q24.2-34(chr2:163233162-211927188)x3	CASP8, CAVIN2 +233 more	Copy number gain	not provided	GPathogenic
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)	RGPD4, RGPD5 +1214 more	Copy number gain	See cases	GPathogenic
Select item 442997	GRCh37/hg19 2p25.3-q37.3(chr2:12771-242783384)x3	IL1F10, IL1R1 +1214 more	Copy number gain	See cases	GPathogenic
Select item 187825	GRCh37/hg19 2q33.2-33.3(chr2:204032747-205890355)x1	ABI2, NBEAL1 +6 more	Copy number loss	See cases	GLikely pathogenic

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Items: 43