6688[geneid] - ClinVar

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Items: 42

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 148316	GRCh38/hg38 11p12-11.12(chr11:39179252-49135735)x1	ACCS, ACCSL +265 more	Copy number loss	See cases	GPathogenic
Select item 146079	GRCh38/hg38 11p12-11.2(chr11:41118322-48643003)x1	ACCS, ACCSL +259 more	Copy number loss	See cases	GPathogenic
Select item 150595	GRCh38/hg38 11p12-11.12(chr11:42727555-49135735)x3	ACCS, ACCSL +255 more	Copy number gain	See cases	GLikely pathogenic
Select item 57329	GRCh38/hg38 11p11.2(chr11:46840454-48643003)x1	ACP2, AGBL2 +88 more	Copy number loss	See cases	GPathogenic
Select item 151005	GRCh38/hg38 11p11.2(chr11:47210659-47427331)x1	ACP2, DDB2 +21 more	Copy number loss	See cases	GPathogenic
Select item 3346589	NM_003120.3(SPI1):c.802C>A (p.Pro268Thr)	SPI1 (P268T +1 more)	Single nucleotide variant (missense variant)	SPI1-related condition	GUncertain significance
Select item 3169079	NM_003120.3(SPI1):c.760G>A (p.Gly254Ser)	SPI1 (G254S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 801321	NM_003120.3(SPI1):c.722T>G (p.Val241Gly)	SPI1 (V242G +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 10, autosomal dominant	GLikely pathogenic
Select item 1691622	NM_003120.3(SPI1):c.695del (p.Leu232fs)	SPI1 (L232fs +1 more)	Deletion (frameshift variant)	not provided	GUncertain significance
Select item 989449	NM_003120.3(SPI1):c.693_694del (p.Leu232fs)	SPI1 (L232fs +1 more)	Microsatellite (frameshift variant)	PU.1-mutated agammaglobulinemia +1 more	GPathogenic
Select item 2672188	NM_003120.3(SPI1):c.689G>C (p.Arg230Pro)	SPI1 (R230P +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 10, autosomal dominant +1 more	GConflicting classifications of pathogenicity
Select item 801322	NM_003120.3(SPI1):c.632A>C (p.His211Pro)	SPI1 (H212P +1 more)	Single nucleotide variant (missense variant)	Agammaglobulinemia 10, autosomal dominant	GLikely pathogenic
Select item 3075679	NM_003120.3(SPI1):c.573G>A (p.Trp191Ter)	SPI1 (W191* +1 more)	Single nucleotide variant (nonsense)	Agammaglobulinemia 10, autosomal dominant	GLikely pathogenic
Select item 2688018	NM_003120.3(SPI1):c.493+334T>G	SPI1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2688186	NM_003120.3(SPI1):c.493+105TG[8]	SPI1	Microsatellite (intron variant)	not specified	GBenign
Select item 2687986	NM_003120.3(SPI1):c.493+55C>A	SPI1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 2403927	NM_003120.3(SPI1):c.442G>A (p.Gly148Ser)	SPI1 (G148S +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2553801	NM_003120.3(SPI1):c.409G>A (p.Glu137Lys)	SPI1 (E138K +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169078	NM_003120.3(SPI1):c.388A>T (p.Ser130Cys)	SPI1 (S130C +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 1335903	NM_003120.3(SPI1):c.363C>A (p.Tyr121Ter)	SPI1 (Y122* +1 more)	Single nucleotide variant (nonsense)	Agammaglobulinemia 10, autosomal dominant	GPathogenic
Select item 801323	NM_003120.3(SPI1):c.363C>G (p.Tyr121Ter)	SPI1 (Y121* +1 more)	Single nucleotide variant (nonsense)	PU.1-mutated agammaglobulinemia	GPathogenic
Select item 2687976	NM_003120.3(SPI1):c.331-36C>T	SPI1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 989450	NM_003120.3(SPI1):c.328C>T (p.Gln110Ter)	SPI1 (Q110* +1 more)	Single nucleotide variant (nonsense)	Agammaglobulinemia 10, autosomal dominant	GPathogenic
Select item 585156	NM_001080547.2(SPI1):c.325_327delinsAG (p.Gly109fs)	SPI1 (G109fs +1 more)	Indel (frameshift variant)	PU.1-mutated agammaglobulinemia +1 more	GPathogenic
Select item 3169076	NM_003120.3(SPI1):c.311A>C (p.His104Pro)	SPI1 (H104P +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3169075	NM_003120.3(SPI1):c.293C>T (p.Thr98Ile)	SPI1 (T99I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2319048	NM_003120.3(SPI1):c.283G>A (p.Val95Ile)	SPI1 (V95I +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 3239082	NM_003120.3(SPI1):c.186C>T (p.Phe62=)	SPI1	Single nucleotide variant (synonymous variant)	not provided	GLikely benign
Select item 2506651	NM_003120.3(SPI1):c.143-2A>C	SPI1	Single nucleotide variant (splice acceptor variant)	not provided	GPathogenic
Select item 3169074	NM_003120.3(SPI1):c.97C>T (p.His33Tyr)	SPI1 (H33Y +1 more)	Single nucleotide variant (missense variant)	not specified	GUncertain significance
Select item 2688056	NM_003120.3(SPI1):c.46-73C>T	SPI1	Single nucleotide variant (intron variant)	not specified	GBenign
Select item 3244527	NC_000011.9:g.(?_47362534)_(47433610_?)dup	MYBPC3, SLC39A13 +1 more	Duplication	Hypertrophic cardiomyopathy	GUncertain significance
Select item 3244520	NC_000011.9:g.(?_47353422)_(47436914_?)del	MYBPC3, SLC39A13 +1 more	Deletion	Hypertrophic cardiomyopathy	GPathogenic
Select item 2426467	NC_000011.9:g.(?_45827353)_(47804770_?)del	ACP2, AGBL2 +40 more	Deletion	Leukocyte adhesion deficiency type II	GPathogenic
Select item 1707422	GRCh37/hg19 11p11.2-q12.2(chr11:51581311-54891247)x3	ACP2, ACCS +216 more	Copy number gain	See cases	GPathogenic
Select item 1704646	GRCh37/hg19 11p13-q25(chr11:32799481-134938470)x3	MAML2, MAP3K11 +955 more	Copy number gain	MISSED ABORTION	GPathogenic
Select item 1459820	NC_000011.9:g.(?_46880534)_(47470516_?)del	ACP2, ARFGAP2 +12 more	Deletion	Congenital myasthenic syndrome 11 +1 more	GPathogenic
Select item 1000344	NC_000011.9:g.(?_45827353)_(47804770_?)dup	ARHGAP1, ATG13 +40 more	Duplication	Leukocyte adhesion deficiency type II	GUncertain significance
Select item 997825	Single allele	MMP13, MMP20 +904 more	Deletion	Intellectual disability	GPathogenic
Select item 525135	NC_000011.9:g.(?_46880514)_(47470726_?)del	MADD-AS1, ARFGAP2 +12 more	Deletion	Hypertrophic cardiomyopathy	GPathogenic
Select item 441904	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)	AAMDC, AASDHPPT +1289 more	Copy number gain	See cases	GPathogenic
Select item 441903	GRCh37/hg19 11p15.5-q25(chr11:230616-134938470)x3	SLC37A4, SNORD26 +1289 more	Copy number gain	See cases	GPathogenic

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Items: 42