7341[Gene ID] - ClinVar

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Items: 53

	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 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 898330	NM_003352.8(SUMO1):c.*1038C>T	SUMO1	Single nucleotide variant (3 prime UTR variant +1 more)	Orofacial cleft 10	GUncertain significance
Select item 333609	NM_003352.8(SUMO1):c.*944G>C	SUMO1	Single nucleotide variant (3 prime UTR variant +1 more)	Orofacial cleft 10	GUncertain significance
Select item 333610	NM_003352.8(SUMO1):c.*884A>G	SUMO1	Single nucleotide variant (3 prime UTR variant +1 more)	Orofacial cleft 10	GUncertain significance
Select item 895351	NM_003352.8(SUMO1):c.*814G>A	SUMO1	Single nucleotide variant (3 prime UTR variant +1 more)	Orofacial cleft 10	GUncertain significance
Select item 895352	NM_003352.8(SUMO1):c.*776A>T	SUMO1	Single nucleotide variant (3 prime UTR variant +1 more)	Orofacial cleft 10	GUncertain significance
Select item 895353	NM_003352.8(SUMO1):c.*753C>G	SUMO1	Single nucleotide variant (3 prime UTR variant +1 more)	Orofacial cleft 10	GUncertain significance
Select item 333611	NM_003352.8(SUMO1):c.*724A>G	SUMO1	Single nucleotide variant (3 prime UTR variant +1 more)	Orofacial cleft 10	GUncertain significance
Select item 333612	NM_003352.8(SUMO1):c.*545G>T	SUMO1	Single nucleotide variant (3 prime UTR variant +1 more)	Orofacial cleft 10	GUncertain significance
Select item 333613	NM_003352.8(SUMO1):c.*475A>G	SUMO1	Single nucleotide variant (3 prime UTR variant +1 more)	Orofacial cleft 10	GUncertain significance
Select item 2496196	NM_003352.8(SUMO1):c.284C>T (p.Thr95Met)	SUMO1 (T95M +4 more)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 895354	NM_003352.8(SUMO1):c.88-8C>T	SUMO1	Single nucleotide variant (intron variant)	Orofacial cleft 10	GUncertain significance
Select item 333614	NM_003352.8(SUMO1):c.88-17_88-11del	SUMO1	Deletion (intron variant)	Cleft Lip +/- Cleft Palate, Autosomal Dominant	GUncertain significance
Select item 1258470	NM_003352.8(SUMO1):c.88-150A>G	SUMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1274105	NM_003352.8(SUMO1):c.13-160C>G	SUMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 1258266	NM_003352.8(SUMO1):c.12+251T>C	LOC129935428, SUMO1	Single nucleotide variant (intron variant)	not provided	GBenign
Select item 333615	NM_003352.8(SUMO1):c.-32T>G	SUMO1	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 10	GLikely benign
Select item 896763	NM_003352.8(SUMO1):c.-48C>T	SUMO1	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 10	GUncertain significance
Select item 896764	NM_003352.8(SUMO1):c.-83A>G	SUMO1	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 10	GUncertain significance
Select item 896765	NM_003352.8(SUMO1):c.-94G>A	SUMO1	Single nucleotide variant (5 prime UTR variant +1 more)	Orofacial cleft 10	GLikely benign
Select item 1286859	NC_000002.12:g.202238678G>A	SUMO1	Single nucleotide variant	not provided	GBenign
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	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 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 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 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 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 253679	GRCh37/hg19 2q33.1(chr2:200776457-203070949)x3	ALS2, AOX1 +25 more	Copy number gain	See cases	GUncertain significance
Select item 7629	46,XX,t(2;8)(q33.1;q24.3)	SUMO1	Translocation	Orofacial cleft 10	GPathogenic

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Items: 53