29926[HGNC] - ClinVar

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Items: 44

	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 147402	GRCh38/hg38 2q33.1(chr2:198767347-202353840)x1	ALS2, AOX1 +117 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 144725	GRCh38/hg38 2q33.1(chr2:201674160-202308811)x3	ALS2, CDK15 +25 more	Copy number gain	See cases	GUncertain significance
Select item 425667	NC_000002.12:g.202249539_202474756del225218	LOC129935430, BMPR2 +12 more	Deletion	Pulmonary hypertension, primary, 1	GPathogenic
Select item 2594232	NM_015934.5(NOP58):c.154G>C (p.Asp52His)	NOP58 (D52H)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2294897	NM_015934.5(NOP58):c.257C>A (p.Pro86Gln)	NOP58 (P86Q)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2566362	NM_015934.5(NOP58):c.511G>T (p.Asp171Tyr)	NOP58 (D171Y)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2489730	NM_015934.5(NOP58):c.617A>G (p.Lys206Arg)	NOP58 (K206R)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2396192	NM_015934.5(NOP58):c.782T>C (p.Val261Ala)	NOP58 (V261A)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2376093	NM_015934.5(NOP58):c.946G>A (p.Val316Ile)	NOP58 (V316I)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2245403	NM_015934.5(NOP58):c.1036C>T (p.Leu346Phe)	NOP58 (L346F)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2508572	NM_015934.5(NOP58):c.1123T>C (p.Phe375Leu)	NOP58 (F375L)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2291793	NM_015934.5(NOP58):c.1166C>T (p.Ala389Val)	NOP58 (A389V)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 2371549	NM_015934.5(NOP58):c.1468A>G (p.Arg490Gly)	NOP58 (R490G)	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 2685872	GRCh37/hg19 2q33.1-33.2(chr2:203073570-203429007)x3	BMPR2, NOP58 +1 more	Copy number gain	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 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 1456057	NC_000002.11:g.(?_201943606)_(204824322_?)del	C2CD6, CASP8 +25 more	Deletion	Immunodeficiency, common variable, 1 +2 more	GPathogenic
Select item 1455397	NC_000002.11:g.(?_202566574)_(203424669_?)del	ALS2, BMPR2 +4 more	Deletion	Primary pulmonary hypertension	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 813266	Single allele	BMPR2, NOP58	Deletion	Pulmonary arterial hypertension	GPathogenic
Select item 813265	Single allele	BMPR2, NOP58 +1 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 562503	GRCh37/hg19 2q33.1(chr2:203146719-203226067)x1	NOP58	Copy number loss	not provided	GUncertain significance
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: 44