1653[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	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 3140493	NM_006139.4(CD28):c.44A>G (p.Gln15Arg)	CD28 (Q15R)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 774413	NM_006139.4(CD28):c.105G>A (p.Ala35=)	CD28	Single nucleotide variant (synonymous variant +1 more)	not provided	GBenign
Select item 2208444	NM_006139.4(CD28):c.116G>C (p.Ser39Thr)	CD28 (S39T +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3140491	NM_006139.4(CD28):c.277G>A (p.Glu93Lys)	CD28 (E93K +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2392428	NM_006139.4(CD28):c.307T>G (p.Tyr103Asp)	CD28 (Y103D +1 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2530704	NM_006139.4(CD28):c.445C>T (p.Pro149Ser)	CD28 (P30S +3 more)	Single nucleotide variant (missense variant)	not specified	GLikely benign
Select item 2556924	NM_006139.4(CD28):c.505C>A (p.Leu169Ile)	CD28 (L169I +3 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688238	NM_006139.4(CD28):c.534+17T>C	CD28	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2454950	NM_006139.4(CD28):c.607C>T (p.Arg203Cys)	CD28 (R217C +3 more)	Single nucleotide variant (missense variant)	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 2685874	GRCh37/hg19 2q33.2(chr2:204521345-204770485)x3	CD28, CTLA4	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	Immunodeficiency, common variable, 1 +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	CREB1, CRYGA +44 more	Deletion	Primary pulmonary hypertension	GUncertain significance
Select item 1456057	NC_000002.11:g.(?_201943606)_(204824322_?)del	CARF, NOP58 +25 more	Deletion	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency +2 more	GPathogenic
Select item 988910	GRCh37/hg19 2q33.2-33.3(chr2:204312776-208235204)x3	CD28, CMKLR2 +15 more	Copy number gain	not provided	GUncertain significance
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 979400	GRCh37/hg19 2q33.2-34(chr2:204445619-212580788)x1	ACADL, ADAM23 +36 more	Copy number loss	not provided	GPathogenic
Select item 833421	NC_000002.12:g.(?_203444868)_(203957883_?)del	RAPH1, CD28 +2 more	Deletion	Autoimmune lymphoproliferative syndrome due to CTLA4 haploinsufficiency	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 393938	GRCh37/hg19 2q33.2-33.3(chr2:204516055-205732024)x3	CD28, CTLA4 +2 more	Copy number gain	See cases	GUncertain significance
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: 44